#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1562240	1562240	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:1562240G>T	ENST00000357210.4	+	10	1491	c.1275G>T	c.(1273-1275)gtG>gtT	p.V425V	MIB2_ENST00000505820.2_Silent_p.V482V|MIB2_ENST00000378710.3_Silent_p.V389V|MIB2_ENST00000378712.1_Silent_p.V302V|MIB2_ENST00000504599.1_Silent_p.V381V|MIB2_ENST00000378708.1_Silent_p.V331V|MIB2_ENST00000355826.5_Silent_p.V468V|MIB2_ENST00000518681.1_Silent_p.V417V|MIB2_ENST00000520777.1_Silent_p.V478V|MIB2_ENST00000360522.4_Silent_p.V390V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	425					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V425V(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCGGGAAGGTGGTGAAAGTGT	0.711																																						uc001agg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1273-1275)GTG>GTT		mindbomb homolog 2							40.0	43.0	42.0					1																	1562240		2049	4172	6221	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1562240G>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1275G>T	1.37:g.1562240G>T						MIB2_uc001agh.2_Silent_p.V411V|MIB2_uc001agi.2_Silent_p.V421V|MIB2_uc001agj.2_Silent_p.V266V|MIB2_uc001agk.2_Silent_p.V360V|MIB2_uc001agl.1_Silent_p.V381V|MIB2_uc001agm.2_Silent_p.V302V|MIB2_uc010nyq.1_Silent_p.V381V|MIB2_uc009vkh.2_Silent_p.V231V|MIB2_uc001agn.2_Silent_p.V57V|MIB2_uc001ago.2_5'Flank	p.V425V	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	10	1402	+	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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	425					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.1275G>T		.	.	.	.	.	.	.	.	.	.	G	10.23	1.292533	0.23564	.	.	ENSG00000197530	ENST00000514234	.	.	.	4.59	1.52	0.23074	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	-22.9556	6.9678	0.24632	0.1634:0.1423:0.6943:0.0	.	.	.	.	C	241	.	.	G	+	1	0	MIB2	1552103	1.000000	0.71417	0.921000	0.36526	0.965000	0.64279	2.993000	0.49425	0.025000	0.15241	0.455000	0.32223	GGT		PASS	0.711	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		3	6	3	6	---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3389665	3389665	+	Missense_Mutation	SNP	G	G	A	rs536938385		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:3389665G>A	ENST00000378378.4	+	7	1451	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R61Q|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R61Q|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R53Q	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	349	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R53Q(1)|p.R349Q(1)|p.R61Q(1)		lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGGAGCAGCGGCACAAGGCC	0.627																																						uc001akg.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1045-1047)CGG>CAG		Rho guanine exchange factor 16							104.0	78.0	87.0					1																	3389665		2203	4300	6503	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3389665G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1046G>A	1.37:g.3389665G>A	ENSP00000367629:p.Arg349Gln					ARHGEF16_uc001aki.2_Missense_Mutation_p.R61Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R61Q|ARHGEF16_uc009vli.1_Missense_Mutation_p.R53Q|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R53Q	p.R349Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	7	1294	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	349			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1046G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	36	5.756341	0.96898	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	4.38	4.38	0.52667	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	T	0.62011	0.2393	M	0.83692	2.655	0.80722	D	1	D;D;D	0.67145	0.996;0.977;0.996	D;P;P	0.65323	0.934;0.701;0.883	T	0.69837	-0.5037	10	0.66056	D	0.02	-37.9591	17.1187	0.86696	0.0:0.0:1.0:0.0	.	53;53;349	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	Q	349;61;61;61;53;53	ENSP00000367629:R349Q;ENSP00000367624:R61Q;ENSP00000367622:R61Q;ENSP00000411936:R61Q;ENSP00000390853:R53Q;ENSP00000408887:R53Q	ENSP00000367622:R61Q	R	+	2	0	ARHGEF16	3379525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.086000	0.76885	2.274000	0.75844	0.561000	0.74099	CGG		PASS	0.627	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		20	11	20	11	---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6636553	6636553	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:6636553A>T	ENST00000333172.6	+	4	1532	c.1339A>T	c.(1339-1341)Agt>Tgt	p.S447C	TAS1R1_ENST00000328191.4_Intron|TAS1R1_ENST00000351136.3_Missense_Mutation_p.S193C	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	447					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S447C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGATCCCCTCAGTAGCTATAA	0.468																																						uc001ant.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1339-1341)AGT>TGT		sweet taste receptor T1r isoform b							157.0	151.0	153.0					1																	6636553		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6636553A>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1339A>T	1.37:g.6636553A>T	ENSP00000331867:p.Ser447Cys					TAS1R1_uc001anu.2_Missense_Mutation_p.S193C|TAS1R1_uc001anv.2_Missense_Mutation_p.S193C|TAS1R1_uc001anw.2_Intron	p.S447C	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	4	1339	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	447			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.1339A>T	CCDS81.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380009	0.42207	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	D;T	0.86769	-2.17;-0.86	5.05	1.27	0.21489	Extracellular ligand-binding receptor (1);	0.322321	0.37906	N	0.001883	D	0.88291	0.6397	L	0.53249	1.67	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.998	P;D;P	0.65443	0.719;0.935;0.905	T	0.78902	-0.2021	10	0.87932	D	0	.	4.5806	0.12257	0.6588:0.1642:0.177:0.0	.	193;193;447	Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;TS1R1_HUMAN	C	447;115;193	ENSP00000331867:S447C;ENSP00000312558:S193C	ENSP00000331867:S447C	S	+	1	0	TAS1R1	6559140	0.000000	0.05858	0.110000	0.21437	0.820000	0.46376	0.398000	0.20899	-0.040000	0.13580	0.482000	0.46254	AGT		PASS	0.468	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			46	74	46	74	---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8398050	8398050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:8398050C>G	ENST00000471889.1	+	7	2157	c.1772C>G	c.(1771-1773)tCa>tGa	p.S591*	SLC45A1_ENST00000377479.2_Nonsense_Mutation_p.S625*|SLC45A1_ENST00000289877.8_Nonsense_Mutation_p.S591*			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	591					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S591*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCTACTCAGGTACCCGC	0.577																																						uc001apb.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1771-1773)TCA>TGA		DNB5							65.0	61.0	63.0					1																	8398050		2203	4300	6503	SO:0001587	stop_gained	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8398050C>G	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1772C>G	1.37:g.8398050C>G	ENSP00000418096:p.Ser591*					SLC45A1_uc001apc.2_Nonsense_Mutation_p.S289*	p.S591*	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	6	1772	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	591			Helical; (Potential).		Q5VY46|Q5VY49	Nonsense_Mutation	SNP	ENST00000471889.1	37	c.1772C>G	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	38	7.001324	0.97994	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	.	.	.	4.83	4.83	0.62350	.	0.076632	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.5165	16.8972	0.86102	0.0:1.0:0.0:0.0	.	.	.	.	X	591;625;591	.	ENSP00000289877:S591X	S	+	2	0	SLC45A1	8320637	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.415000	0.80131	2.189000	0.69895	0.655000	0.94253	TCA		PASS	0.577	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			5	26	5	26	---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24663009	24663009	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:24663009C>A	ENST00000350501.5	+	4	431	c.304C>A	c.(304-306)Ccc>Acc	p.P102T	GRHL3_ENST00000361548.4_Missense_Mutation_p.P102T|GRHL3_ENST00000342072.4_Missense_Mutation_p.P9T|GRHL3_ENST00000356046.2_Missense_Mutation_p.P56T|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.P107T	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	102					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P107T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGACCTCACTCCCCTTGAAAG	0.502																																						uc001biy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)CCC>ACC		sister-of-mammalian grainyhead protein isoform							83.0	92.0	89.0					1																	24663009		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663009C>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.304C>A	1.37:g.24663009C>A	ENSP00000288955:p.Pro102Thr					GRHL3_uc001bix.2_Missense_Mutation_p.P102T|GRHL3_uc001biz.2_Missense_Mutation_p.P9T	p.P107T	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	365	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	102					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.319C>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052380	0.19827	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000524724;ENST00000236255	T;T;T;T;T;T	0.42131	2.99;2.76;2.97;3.02;0.98;2.99	5.59	5.59	0.84812	.	0.082777	0.52532	D	0.000062	T	0.23492	0.0568	N	0.19112	0.55	0.36183	D	0.849548	B;B;B	0.12630	0.001;0.006;0.006	B;B;B	0.12156	0.003;0.007;0.007	T	0.26326	-1.0106	10	0.12103	T	0.63	-14.7707	6.9607	0.24595	0.1749:0.7352:0.0:0.0899	.	56;107;102	A2A297;Q8TE85-2;G3XAF0	.;.;.	T	102;9;102;56;56;107	ENSP00000354943:P102T;ENSP00000340543:P9T;ENSP00000288955:P102T;ENSP00000348333:P56T;ENSP00000431290:P56T;ENSP00000236255:P107T	ENSP00000236255:P107T	P	+	1	0	GRHL3	24535596	0.159000	0.22864	0.962000	0.40283	0.270000	0.26580	0.557000	0.23454	2.627000	0.88993	0.655000	0.94253	CCC		PASS	0.502	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		21	82	21	82	---	---	---	---
BSDC1	55108	broad.mit.edu	37	1	32841982	32841982	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:32841982G>A	ENST00000455895.2	-	9	1070	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	BSDC1_ENST00000413080.1_Missense_Mutation_p.P285L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P290L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P346L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P251L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P363L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000341071.7_Missense_Mutation_p.P363L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	346								p.P363L(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCTGGGCTCTGGGCCGCCGGT	0.622																																						uc001bvh.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1036-1038)CCA>CTA		BSD domain containing 1 isoform b							63.0	71.0	68.0					1																	32841982		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32841982G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1037C>T	1.37:g.32841982G>A	ENSP00000412173:p.Pro346Leu					BSDC1_uc010ohg.1_Missense_Mutation_p.P363L|BSDC1_uc010ohh.1_Missense_Mutation_p.P290L|BSDC1_uc010ohi.1_Missense_Mutation_p.P251L|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.P242L|BSDC1_uc001bvi.2_Missense_Mutation_p.P363L	p.P346L	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN			9	1084	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	346					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1037C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545660	0.27652	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	2.92	0.33932	.	0.361740	0.35378	N	0.003246	T	0.25494	0.0620	N	0.19112	0.55	0.09310	N	0.999996	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.002;0.0	B;B;B;B;B	0.13407	0.005;0.009;0.004;0.003;0.0	T	0.17228	-1.0376	9	0.52906	T	0.07	0.0525	7.1605	0.25661	0.1726:0.1453:0.6821:0.0	.	251;290;363;363;346	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	346;285;363;251;290;363;346	.	ENSP00000344816:P363L	P	-	2	0	BSDC1	32614569	0.521000	0.26258	0.042000	0.18584	0.793000	0.44817	3.842000	0.55858	0.685000	0.31468	0.462000	0.41574	CCA		PASS	0.622	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		11	29	11	29	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38003387	38003387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:38003387C>A	ENST00000296215.6	-	4	1225	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	385	Poly-Glu.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E385*(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCCTCATCCTCGTCATCTTTC	0.423																																						uc001cbi.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1153-1155)GAG>TAG		Smad nuclear interacting protein							198.0	187.0	191.0					1																	38003387		2203	4300	6503	SO:0001587	stop_gained	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003387C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1153G>T	1.37:g.38003387C>A	ENSP00000296215:p.Glu385*					SNIP1_uc010oid.1_RNA	p.E385*	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			4	1226	-		Myeloproliferative disorder(586;0.0393)	385			Poly-Glu.		Q96SP9|Q9H9T7	Nonsense_Mutation	SNP	ENST00000296215.6	37	c.1153G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379977	0.61845	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	.	.	.	6.04	6.04	0.98038	.	0.224752	0.44688	D	0.000434	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-22.0195	20.2052	0.98274	0.0:1.0:0.0:0.0	.	.	.	.	X	385;369	.	ENSP00000296215:E385X	E	-	1	0	SNIP1	37775974	1.000000	0.71417	0.982000	0.44146	0.034000	0.12701	5.573000	0.67417	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.423	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		5	86	5	86	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717492	47717492	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:47717492C>G	ENST00000360380.3	-	18	3543	c.3180G>C	c.(3178-3180)ttG>ttC	p.L1060F	STIL_ENST00000396221.2_Missense_Mutation_p.L1043F|STIL_ENST00000337817.5_Missense_Mutation_p.L1060F|STIL_ENST00000371877.3_Missense_Mutation_p.L1061F|STIL_ENST00000243182.6_Missense_Mutation_p.L1060F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1060					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L1060F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CCTCCATGCTCAAATCCACAC	0.428																																						uc001crc.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(3178-3180)TTG>TTC		SCL/TAL1 interrupting locus isoform 2							93.0	95.0	94.0					1																	47717492		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717492C>G	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3180G>C	1.37:g.47717492C>G	ENSP00000353544:p.Leu1060Phe					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1014F|STIL_uc010omo.1_Missense_Mutation_p.L1043F|STIL_uc001crd.1_Missense_Mutation_p.L1061F|STIL_uc001cre.1_Missense_Mutation_p.L1060F	p.L1060F	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3335	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1060					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3180G>C	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407234	0.62399	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.35973	1.29;1.29;1.28;1.67;1.29	5.58	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.62723	1.935	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57757	-0.7756	10	0.87932	D	0	-6.0947	10.8885	0.46981	0.0:0.8545:0.0:0.1455	.	1043;1061;1060	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	F	1060;1060;1061;1043;1060	ENSP00000353544:L1060F;ENSP00000337367:L1060F;ENSP00000360944:L1061F;ENSP00000379523:L1043F;ENSP00000243182:L1060F	ENSP00000243182:L1060F	L	-	3	2	STIL	47490079	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.863000	0.27913	1.331000	0.45412	0.460000	0.39030	TTG		PASS	0.428	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		15	63	15	63	---	---	---	---
CMPK1	51727	broad.mit.edu	37	1	47838719	47838719	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:47838719C>G	ENST00000371873.5	+	3	560	c.411C>G	c.(409-411)aaC>aaG	p.N137K	CMPK1_ENST00000450808.2_Missense_Mutation_p.N88K	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic									p.N137K(1)		endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						AAGGATGGAACAAGACCATGG	0.388																																						uc001cri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)AAC>AAG		UMP-CMP kinase 1 isoform a	Gemcitabine(DB00441)						146.0	127.0	133.0					1																	47838719		2203	4300	6503	SO:0001583	missense	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47838719C>G	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.411C>G	1.37:g.47838719C>G	ENSP00000360939:p.Asn137Lys					CMPK1_uc010omp.1_Missense_Mutation_p.N88K|CMPK1_uc010omq.1_RNA	p.N137K	NM_016308	NP_057392	P30085	KCY_HUMAN			3	560	+			105						Missense_Mutation	SNP	ENST00000371873.5	37	c.411C>G	CCDS549.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939664	0.34189	.	.	ENSG00000162368	ENST00000371873;ENST00000450808	T;T	0.75477	-0.94;-0.94	5.45	-0.0754	0.13727	.	0.125013	0.64402	D	0.000001	T	0.51143	0.1657	N	0.17872	0.535	0.54753	D	0.999985	B;B	0.30542	0.005;0.284	B;B	0.20184	0.021;0.028	T	0.22068	-1.0227	10	0.46703	T	0.11	-21.9579	6.479	0.22053	0.1134:0.4784:0.0:0.4082	.	88;137	E9PGI8;B2R6S5	.;.	K	137;88	ENSP00000360939:N137K;ENSP00000398192:N88K	ENSP00000360937:N137K	N	+	3	2	CMPK1	47611306	0.518000	0.26234	0.991000	0.47740	0.981000	0.71138	-0.239000	0.08965	-0.309000	0.08779	-0.253000	0.11424	AAC		PASS	0.388	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		25	28	25	28	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52803487	52803487	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:52803487G>C	ENST00000371591.1	+	15	3845	c.3714G>C	c.(3712-3714)ttG>ttC	p.L1238F	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.L1238F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L1179F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1238					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.L1238F(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGATTCCTTGAGGCAGGCAC	0.517																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(3712-3714)TTG>TTC		zinc finger, FYVE domain containing 9 isoform 3							113.0	95.0	101.0					1																	52803487		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52803487G>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3714G>C	1.37:g.52803487G>C	ENSP00000360647:p.Leu1238Phe					ZFYVE9_uc001ctp.2_Missense_Mutation_p.L1179F	p.L1238F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			16	3886	+			1238					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.3714G>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896550	0.72639	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.57273	0.54;0.41;0.41	5.54	4.63	0.57726	Domain of unknown function DUF3480 (1);	0.070561	0.64402	D	0.000018	T	0.69043	0.3067	M	0.70842	2.15	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72312	-0.4331	10	0.87932	D	0	.	10.6764	0.45789	0.1443:0.0:0.8557:0.0	.	1179;1238	O95405-2;O95405	.;ZFYV9_HUMAN	F	1179;1238;1238	ENSP00000349737:L1179F;ENSP00000287727:L1238F;ENSP00000360647:L1238F	ENSP00000287727:L1238F	L	+	3	2	ZFYVE9	52576075	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	2.023000	0.41040	1.593000	0.50029	0.650000	0.86243	TTG		PASS	0.517	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		3	44	3	44	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54610191	54610191	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:54610191G>C	ENST00000371330.1	-	2	1222	c.375C>G	c.(373-375)ttC>ttG	p.F125L	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	125	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.F125L(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGTCCGAGTGGAAGATGACAG	0.607																																						uc001cwv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)TTC>TTG		CUB domain containing protein 2 precursor							53.0	52.0	52.0					1																	54610191		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54610191G>C		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.375C>G	1.37:g.54610191G>C	ENSP00000360381:p.Phe125Leu						p.F125L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			2	1223	-			125			CUB 1.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.375C>G	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217398	0.79352	.	.	ENSG00000157211	ENST00000371330	T	0.33654	1.4	5.08	4.15	0.48705	CUB (5);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.78049	2.395	0.58432	D	0.999996	D	0.69078	0.997	D	0.63381	0.914	T	0.56553	-0.7960	10	0.59425	D	0.04	-26.6434	8.701	0.34325	0.2339:0.0:0.7661:0.0	.	125	Q5VXM1	CDCP2_HUMAN	L	125	ENSP00000360381:F125L	ENSP00000360381:F125L	F	-	3	2	CDCP2	54382779	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.976000	0.49289	1.105000	0.41606	0.591000	0.81541	TTC		PASS	0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		8	27	8	27	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	78958457	78958457	+	Missense_Mutation	SNP	T	T	A	rs115647706		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:78958457T>A	ENST00000370757.3	+	2	266	c.29T>A	c.(28-30)gTg>gAg	p.V10E	PTGFR_ENST00000370758.1_Missense_Mutation_p.V10E|PTGFR_ENST00000370756.3_Missense_Mutation_p.V10E	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	10					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.V10E(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAACAGCTAGTGTCTCCTGCA	0.448																																						uc001din.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|skin(1)	6						c.(28-30)GTG>GAG		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						69.0	75.0	73.0					1																	78958457		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958457T>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.29T>A	1.37:g.78958457T>A	ENSP00000359793:p.Val10Glu					PTGFR_uc001dim.2_Missense_Mutation_p.V10E	p.V10E	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	295	+			10			Extracellular (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.29T>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	T	7.834	0.720467	0.15372	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.36699	1.24;1.24;1.24	5.55	1.85	0.25348	.	1.384280	0.04365	N	0.358065	T	0.09024	0.0223	L	0.36672	1.1	0.09310	N	1	B;B	0.27679	0.0;0.185	B;B	0.27076	0.0;0.076	T	0.21177	-1.0253	10	0.07813	T	0.8	-0.6031	5.7832	0.18318	0.0:0.3541:0.1513:0.4946	.	10;10	P43088;P43088-2	PF2R_HUMAN;.	E	10	ENSP00000359794:V10E;ENSP00000359793:V10E;ENSP00000359792:V10E	ENSP00000359792:V10E	V	+	2	0	PTGFR	78731045	0.004000	0.15560	0.989000	0.46669	0.572000	0.35998	-0.008000	0.12788	0.456000	0.26937	0.533000	0.62120	GTG		PASS	0.448	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		7	29	7	29	---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85573813	85573813	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:85573813C>G	ENST00000294664.6	+	15	1831	c.1651C>G	c.(1651-1653)Cca>Gca	p.P551A	WDR63_ENST00000370596.1_Missense_Mutation_p.P512A|WDR63_ENST00000326813.8_Missense_Mutation_p.P512A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	551								p.P551A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGATGTACCATCTACTTT	0.373																																						uc001dkt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1651-1653)CCA>GCA		WD repeat domain 63							155.0	151.0	152.0					1																	85573813		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85573813C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1651C>G	1.37:g.85573813C>G	ENSP00000294664:p.Pro551Ala					WDR63_uc009wcl.2_Missense_Mutation_p.P512A	p.P551A	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	15	1842	+			551					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1651C>G	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544842	0.65198	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.47177	0.85;0.85;0.85	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.106561	0.64402	D	0.000004	T	0.37237	0.0996	M	0.71581	2.175	0.52099	D	0.999948	P;P	0.44006	0.824;0.73	B;B	0.38020	0.263;0.209	T	0.41662	-0.9496	10	0.45353	T	0.12	-4.2589	16.5041	0.84264	0.0:1.0:0.0:0.0	.	512;551	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	A	512;512;551	ENSP00000359628:P512A;ENSP00000317463:P512A;ENSP00000294664:P551A	ENSP00000294664:P551A	P	+	1	0	WDR63	85346401	0.932000	0.31603	0.859000	0.33776	0.965000	0.64279	3.095000	0.50235	2.610000	0.88304	0.650000	0.86243	CCA		PASS	0.373	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		7	41	7	41	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85655743	85655743	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:85655743C>A	ENST00000341460.5	-	2	1487	c.1438G>T	c.(1438-1440)Gca>Tca	p.A480S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	480					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.A402S(1)|p.A480S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTTTACCTGCAAAAGGAGAT	0.328																																						uc009wcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1438-1440)GCA>TCA		synapse defective 1, Rho GTPase, homolog 2							199.0	190.0	193.0					1																	85655743		1868	4096	5964	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85655743C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1438G>T	1.37:g.85655743C>A	ENSP00000340594:p.Ala480Ser					SYDE2_uc001dku.3_Missense_Mutation_p.A480S	p.A480S	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1487	-			480					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1438G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273037	0.23221	.	.	ENSG00000097096	ENST00000341460	T	0.07216	3.21	5.52	-4.36	0.03645	.	0.779595	0.12353	N	0.476373	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.20671	0.016;0.047	B;B	0.16289	0.007;0.015	T	0.45571	-0.9252	10	0.30078	T	0.28	.	5.2561	0.15548	0.3532:0.2831:0.0:0.3637	.	480;480	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	S	480	ENSP00000340594:A480S	ENSP00000340594:A480S	A	-	1	0	SYDE2	85428331	0.001000	0.12720	0.842000	0.33263	0.886000	0.51366	-0.396000	0.07278	-0.656000	0.05380	-0.157000	0.13467	GCA		PASS	0.328	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			46	53	46	53	---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89279297	89279297	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:89279297G>T	ENST00000370521.3	+	16	2519	c.2160G>T	c.(2158-2160)ttG>ttT	p.L720F	PKN2_ENST00000370505.3_Missense_Mutation_p.L563F|PKN2_ENST00000370513.5_Missense_Mutation_p.L672F|PKN2_ENST00000544045.1_Missense_Mutation_p.L394F	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.L720F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATCCCTTTTTGGTGAACCTTT	0.338																																						uc001dmn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2158-2160)TTG>TTT		protein kinase N2							150.0	138.0	142.0					1																	89279297		1860	4097	5957	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279297G>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2160G>T	1.37:g.89279297G>T	ENSP00000359552:p.Leu720Phe					PKN2_uc010osp.1_Missense_Mutation_p.L704F|PKN2_uc010osq.1_Missense_Mutation_p.L563F|PKN2_uc009wcv.2_Missense_Mutation_p.L672F|PKN2_uc010osr.1_Missense_Mutation_p.L385F	p.L720F	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2502	+		Lung NSC(277;0.123)	720			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2160G>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189391	0.78789	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.41	4.49	0.54785	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	0.36444	U	0.002596	T	0.36248	0.0960	L	0.43757	1.38	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	0.31138	-0.9954	10	0.87932	D	0	.	13.2245	0.59907	0.078:0.0:0.922:0.0	.	704;672;720	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	F	720;563;672;394	ENSP00000359552:L720F;ENSP00000359536:L563F;ENSP00000359544:L672F;ENSP00000439643:L394F	ENSP00000359536:L563F	L	+	3	2	PKN2	89051885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.398000	0.73244	1.272000	0.44329	0.650000	0.86243	TTG		PASS	0.338	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		5	83	5	83	---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114380790	114380790	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:114380790T>C	ENST00000359785.5	-	13	1367	c.1232A>G	c.(1231-1233)aAg>aGg	p.K411R	PTPN22_ENST00000420377.2_Missense_Mutation_p.K411R|PTPN22_ENST00000528414.1_Missense_Mutation_p.K356R|PTPN22_ENST00000538253.1_Missense_Mutation_p.K167R|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.K284R	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	411					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.K411R(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTGATGCTTCTGAAGAGG	0.378																																						uc001eds.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(1231-1233)AAG>AGG		protein tyrosine phosphatase, non-receptor type							80.0	83.0	82.0					1																	114380790		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380790T>C	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1232A>G	1.37:g.114380790T>C	ENSP00000352833:p.Lys411Arg					PTPN22_uc009wgq.2_Missense_Mutation_p.K356R|PTPN22_uc010owo.1_Missense_Mutation_p.K167R|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.K411R|PTPN22_uc009wgs.2_Missense_Mutation_p.K284R|PTPN22_uc001edu.2_Missense_Mutation_p.K411R	p.K411R	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1362	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	411					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1232A>G	CCDS863.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332118	0.81801	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.49184	0.1542	M	0.71581	2.175	0.42575	D	0.993193	D;D;D;D;D;D	0.89917	1.0;0.997;0.958;1.0;0.99;0.958	D;D;P;D;P;P	0.91635	0.999;0.914;0.759;0.996;0.841;0.697	T	0.49184	-0.8966	10	0.38643	T	0.18	.	13.7071	0.62646	0.0:0.0:0.0:1.0	.	167;284;411;356;411;411	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	R	411;356;167;411;284;411	ENSP00000352833:K411R;ENSP00000435176:K356R;ENSP00000439372:K167R;ENSP00000388229:K411R;ENSP00000432674:K284R	ENSP00000346621:K411R	K	-	2	0	PTPN22	114182313	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.413000	0.59795	2.222000	0.72286	0.533000	0.62120	AAG		PASS	0.378	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		27	30	27	30	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118554983	118554983	+	Silent	SNP	G	G	T	rs375014476		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:118554983G>T	ENST00000336338.5	-	30	4365	c.4300C>A	c.(4300-4302)Cga>Aga	p.R1434R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1434						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R1434R(1)		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)		TTGTCTTCTCGAGTTGTCATA	0.388																																						uc001ehk.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4300-4302)CGA>AGA		sperm associated antigen 17							151.0	127.0	135.0					1																	118554983		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554983G>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.4300C>A	1.37:g.118554983G>T							p.R1434R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4368	-	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)	1434					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4300C>A	CCDS899.1																																																																																				PASS	0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		4	47	4	47	---	---	---	---
C1orf54	79630	broad.mit.edu	37	1	150248195	150248195	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:150248195C>T	ENST00000369102.1	+	5	946	c.176C>T	c.(175-177)tCa>tTa	p.S59L	C1orf54_ENST00000369098.3_Missense_Mutation_p.S59L|C1orf54_ENST00000369099.3_Missense_Mutation_p.S59L			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	59						extracellular region (GO:0005576)		p.S59L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATTTGAGTCAGAGGACAGG	0.388																																						uc001eud.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TCA>TTA		hypothetical protein LOC79630 precursor							81.0	79.0	80.0					1																	150248195		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150248195C>T	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.176C>T	1.37:g.150248195C>T	ENSP00000358098:p.Ser59Leu					C1orf54_uc001euc.2_Missense_Mutation_p.S59L|C1orf54_uc001eue.2_Missense_Mutation_p.S59L|C1orf54_uc001euf.2_Missense_Mutation_p.S59L|C1orf54_uc001eug.2_Missense_Mutation_p.S59L	p.S59L	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	214	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		59					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.176C>T	CCDS948.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.923225	0.52653	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	1.86	0.25419	.	0.620281	0.13525	N	0.381408	T	0.21761	0.0524	L	0.58101	1.795	0.25128	N	0.990591	B;B	0.15930	0.015;0.004	B;B	0.16722	0.016;0.011	T	0.31475	-0.9942	9	0.72032	D	0.01	-3.4994	5.3141	0.15847	0.0:0.7191:0.0:0.2809	.	59;59	Q5TB16;Q8WWF1	.;CA054_HUMAN	L	59	.	ENSP00000358094:S59L	S	+	2	0	C1orf54	148514819	0.205000	0.23458	0.998000	0.56505	0.998000	0.95712	-0.330000	0.07925	0.531000	0.28639	0.604000	0.83254	TCA		PASS	0.388	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579		4	24	4	24	---	---	---	---
PRPF3	9129	broad.mit.edu	37	1	150305169	150305169	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:150305169G>T	ENST00000324862.6	+	5	603	c.438G>T	c.(436-438)atG>atT	p.M146I	PRPF3_ENST00000543398.1_Missense_Mutation_p.M11I|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.M97I	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	146					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.M146I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AACAGATGATGGAGGCAGCAA	0.418																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)ATG>ATT		PRP3 pre-mRNA processing factor 3 homolog							140.0	145.0	143.0					1																	150305169		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150305169G>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.438G>T	1.37:g.150305169G>T	ENSP00000315379:p.Met146Ile					PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.M105I|PRPF3_uc010pcb.1_Missense_Mutation_p.M97I|PRPF3_uc009wlq.1_5'Flank	p.M146I	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	5	600	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		146					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.438G>T	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913402	0.92178	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.80994	-1.44;-1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	M	0.76170	2.325	0.80722	D	1	D;D	0.58620	0.97;0.983	P;P	0.53102	0.629;0.718	D	0.86016	0.1504	10	0.66056	D	0.02	-17.7899	19.6576	0.95849	0.0:0.0:1.0:0.0	.	97;146	E7EVD1;O43395	.;PRPF3_HUMAN	I	146;97;11	ENSP00000315379:M146I;ENSP00000387844:M97I	ENSP00000315379:M146I	M	+	3	0	PRPF3	148571793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.166000	0.94766	2.651000	0.90000	0.650000	0.86243	ATG		PASS	0.418	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		15	72	15	72	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154229595	154229595	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:154229595C>T	ENST00000361546.2	+	18	2256	c.2214C>T	c.(2212-2214)acC>acT	p.T738T	UBAP2L_ENST00000343815.6_Silent_p.T738T|UBAP2L_ENST00000428931.1_Silent_p.T738T|UBAP2L_ENST00000271877.7_Silent_p.T749T|AL590431.1_ENST00000517008.1_RNA|SNORA58_ENST00000364259.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	738					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.T738T(2)|p.T234T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTTTCCACCACATCCAGCA	0.537																																						uc001fep.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2212-2214)ACC>ACT		ubiquitin associated protein 2-like isoform a							121.0	110.0	114.0					1																	154229595		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154229595C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2214C>T	1.37:g.154229595C>T						UBAP2L_uc009wot.2_Silent_p.T738T|UBAP2L_uc010pek.1_Silent_p.T730T|UBAP2L_uc010pel.1_Silent_p.T748T|UBAP2L_uc010pen.1_Silent_p.T652T|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR	p.T738T	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		19	2381	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		738					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.2214C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	9.093	1.002104	0.19121	.	.	ENSG00000143569	ENST00000433615;ENST00000428595	.	.	.	5.56	2.13	0.27403	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31194	-0.9952	4	.	.	.	-4.667	8.1481	0.31124	0.0:0.6127:0.0:0.3873	.	.	.	.	Y	69;17	.	.	H	+	1	0	UBAP2L	152496219	0.018000	0.18449	0.991000	0.47740	0.988000	0.76386	-0.281000	0.08456	0.711000	0.32018	0.655000	0.94253	CAC		PASS	0.537	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		23	23	23	23	---	---	---	---
ETV3L	440695	broad.mit.edu	37	1	157062453	157062453	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:157062453C>A	ENST00000454449.2	-	5	1358	c.1074G>T	c.(1072-1074)ttG>ttT	p.L358F		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	358					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L358F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AAGGAGGATCCAAGGGCCACA	0.572																																						uc001fqq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1072-1074)TTG>TTT		ets variant 3-like							67.0	71.0	70.0					1																	157062453		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062453C>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.1074G>T	1.37:g.157062453C>A	ENSP00000430271:p.Leu358Phe						p.L358F	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			5	1359	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	358						Missense_Mutation	SNP	ENST00000454449.2	37	c.1074G>T	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757475	0.31137	.	.	ENSG00000253831	ENST00000454449	T	0.35236	1.32	4.28	1.32	0.21799	.	.	.	.	.	T	0.19525	0.0469	L	0.29908	0.895	0.25166	N	0.990316	D	0.64830	0.994	P	0.55824	0.785	T	0.04708	-1.0932	9	0.87932	D	0	.	4.9647	0.14085	0.167:0.6552:0.0:0.1778	.	358	Q6ZN32	ETV3L_HUMAN	F	358	ENSP00000430271:L358F	ENSP00000430271:L358F	L	-	3	2	ETV3L	155329077	1.000000	0.71417	0.666000	0.29783	0.107000	0.19398	1.346000	0.33964	0.089000	0.17243	0.561000	0.74099	TTG		PASS	0.572	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	37	12	37	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:158057941C>A	ENST00000359209.6	+	7	980	c.913C>A	c.(913-915)Cac>Aac	p.H305N	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000368172.1_Missense_Mutation_p.H103N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.H305N(2)|p.H141N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTAAATGTCCACTGTGAGTA	0.532											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001frn.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(913-915)CAC>AAC		kin of IRRE like precursor							122.0	130.0	127.0					1																	158057941		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057941C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.913C>A	1.37:g.158057941C>A	ENSP00000352138:p.His305Asn		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_uc010pib.1_Missense_Mutation_p.H205N|KIRREL_uc009wsq.2_Missense_Mutation_p.H141N|KIRREL_uc001fro.3_Missense_Mutation_p.H103N	p.H305N	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			7	1317	+	all_hematologic(112;0.0378)		305			Extracellular (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.913C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875650	0.72180	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000341	T	0.07683	0.0193	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.44521	0.605;0.571;0.684;0.837	B;B;B;B	0.43536	0.288;0.312;0.423;0.346	T	0.16453	-1.0402	10	0.37606	T	0.19	-44.7724	16.7618	0.85514	0.0:1.0:0.0:0.0	.	205;141;103;305	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	141;305;202;305;205;103	ENSP00000353202:H141N;ENSP00000357155:H305N;ENSP00000376098:H202N;ENSP00000352138:H305N;ENSP00000389674:H205N;ENSP00000357154:H103N	ENSP00000352138:H305N	H	+	1	0	KIRREL	156324565	0.994000	0.37717	0.996000	0.52242	0.987000	0.75469	3.117000	0.50407	2.557000	0.86248	0.557000	0.71058	CAC		PASS	0.532	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		6	75	6	75	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160100080	160100080	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:160100080G>T	ENST00000361216.3	+	12	1739	c.1650G>T	c.(1648-1650)ctG>ctT	p.L550L	ATP1A2_ENST00000392233.3_Splice_Site_p.L550L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	550					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.L550L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCGTGTGCTGGGTGAGAGGC	0.622																																						uc001fvc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1648-1650)CTG>CTT		Na+/K+ -ATPase alpha 2 subunit proprotein							47.0	48.0	48.0					1																	160100080		2203	4300	6503	SO:0001630	splice_region_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160100080G>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1651+1G>T	1.37:g.160100080G>T						ATP1A2_uc001fvb.2_Silent_p.L550L|ATP1A2_uc001fvd.2_Silent_p.L286L|ATP1A2_uc009wtg.1_Silent_p.L238L	p.L550L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		12	1782	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		550			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1650G>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446820	0.25987	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.61	1.01	0.19927	.	.	.	.	.	T	0.35393	0.0930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	.	4.7103	0.12870	0.2717:0.0:0.5392:0.1891	.	.	.	.	L	261	.	.	W	+	2	0	ATP1A2	158366704	0.978000	0.34361	1.000000	0.80357	0.963000	0.63663	0.067000	0.14510	0.486000	0.27676	0.511000	0.50034	TGG		PASS	0.622	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Silent	20	19	20	19	---	---	---	---
APOA2	336	broad.mit.edu	37	1	161192260	161192260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:161192260C>A	ENST00000367990.3	-	4	295	c.238G>T	c.(238-240)Gga>Tga	p.G80*	APOA2_ENST00000470459.2_Intron|APOA2_ENST00000463812.1_Nonsense_Mutation_p.G32*|APOA2_ENST00000468465.1_Nonsense_Mutation_p.G32*|AL590714.1_ENST00000594609.1_Silent_p.S65S|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000464492.1_Nonsense_Mutation_p.G113*	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	80					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G80*(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGTTCCGTTCCAGCCTTCTTG	0.502																																						uc001fzc.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(238-240)GGA>TGA		apolipoprotein A-II preproprotein							222.0	201.0	208.0					1																	161192260		2203	4300	6503	SO:0001587	stop_gained	336				cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr1:161192260C>A		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.238G>T	1.37:g.161192260C>A	ENSP00000356969:p.Gly80*					APOA2_uc001fzb.1_RNA	p.G80*	NM_001643	NP_001634	P02652	APOA2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	296	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		80					B2R524	Nonsense_Mutation	SNP	ENST00000367990.3	37	c.238G>T	CCDS1226.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808531	0.31961	.	.	ENSG00000158874	ENST00000367990	.	.	.	4.97	-0.329	0.12686	.	0.746542	0.12000	N	0.508910	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.5597	1.5342	0.02542	0.1603:0.3416:0.3125:0.1855	.	.	.	.	X	80	.	ENSP00000356969:G80X	G	-	1	0	APOA2	159458884	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.479000	0.06567	0.288000	0.22398	0.655000	0.94253	GGA		PASS	0.502	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		6	150	6	150	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564494	176564494	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:176564494A>G	ENST00000367662.3	+	3	2918	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N585S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	585	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N585S(2)		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						GTGCTTGTGAACTGTGAGCCC	0.602																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1753-1755)AAC>AGC		pappalysin 2 isoform 1							115.0	116.0	115.0					1																	176564494		2099	4239	6338	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564494A>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.1754A>G	1.37:g.176564494A>G	ENSP00000356634:p.Asn585Ser					PAPPA2_uc001gky.1_Missense_Mutation_p.N585S|PAPPA2_uc009www.2_RNA	p.N585S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2918	+			585			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1754A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429089	0.43122	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91124	-2.79;-2.79	5.24	4.11	0.48088	Notch domain (2);	0.435856	0.26883	N	0.022010	D	0.90762	0.7100	L	0.42245	1.32	0.28413	N	0.918081	P;P	0.51240	0.943;0.851	P;P	0.59221	0.854;0.482	D	0.84878	0.0829	10	0.66056	D	0.02	-15.5843	7.6418	0.28298	0.7649:0.0:0.2351:0.0	.	585;585	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	S	585	ENSP00000356634:N585S;ENSP00000356633:N585S	ENSP00000356633:N585S	N	+	2	0	PAPPA2	174831117	1.000000	0.71417	0.904000	0.35570	0.500000	0.33767	3.175000	0.50855	0.828000	0.34709	0.528000	0.53228	AAC		PASS	0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			18	50	18	50	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176668281	176668281	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:176668281G>T	ENST00000367662.3	+	8	3956	c.2792G>T	c.(2791-2793)tGg>tTg	p.W931L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	931					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W931L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTACAGGCCTGGAGCCCTGAG	0.562																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2791-2793)TGG>TTG		pappalysin 2 isoform 1							85.0	85.0	85.0					1																	176668281		1943	4125	6068	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668281G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2792G>T	1.37:g.176668281G>T	ENSP00000356634:p.Trp931Leu					PAPPA2_uc009www.2_RNA	p.W931L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	3956	+			931					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2792G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943712	0.92593	.	.	ENSG00000116183	ENST00000367662	T	0.02709	4.19	5.14	5.14	0.70334	Fibronectin, type III (2);	0.113706	0.64402	D	0.000004	T	0.17365	0.0417	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00132	-1.2012	10	0.87932	D	0	-14.142	18.3931	0.90490	0.0:0.0:1.0:0.0	.	931	Q9BXP8	PAPP2_HUMAN	L	931	ENSP00000356634:W931L	ENSP00000356634:W931L	W	+	2	0	PAPPA2	174934904	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.081000	0.94049	2.649000	0.89929	0.655000	0.94253	TGG		PASS	0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			5	48	5	48	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182554630	182554630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:182554630C>A	ENST00000367559.3	-	2	1565	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*	RNASEL_ENST00000444138.1_Nonsense_Mutation_p.E438*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.E438*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.E438*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGAGTCTGCTCACAGAGGGTG	0.488																																						uc001gpj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|stomach(1)	5						c.(1312-1314)GAG>TAG		ribonuclease L							85.0	83.0	84.0					1																	182554630		2203	4300	6503	SO:0001587	stop_gained	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554630C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1312G>T	1.37:g.182554630C>A	ENSP00000356530:p.Glu438*					RNASEL_uc009wxz.1_Nonsense_Mutation_p.E438*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.E438*|RNASEL_uc009wya.1_Nonsense_Mutation_p.E438*	p.E438*	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	1479	-			438			Protein kinase.|C6-type; atypical.		Q5W0L2|Q6AI46	Nonsense_Mutation	SNP	ENST00000367559.3	37	c.1312G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	39	7.609594	0.98387	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000543858;ENST00000539397	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-45.8282	18.1505	0.89672	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;82;438	.	ENSP00000356530:E438X	E	-	1	0	RNASEL	180821253	1.000000	0.71417	0.981000	0.43875	0.561000	0.35649	4.696000	0.61774	2.825000	0.97269	0.650000	0.86243	GAG		PASS	0.488	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		20	21	20	21	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204948542	204948542	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:204948542C>A	ENST00000401399.1	+	18	2230	c.2031C>A	c.(2029-2031)gaC>gaA	p.D677E	NFASC_ENST00000367171.4_Missense_Mutation_p.D662E|NFASC_ENST00000338515.6_Missense_Mutation_p.D677E|NFASC_ENST00000404076.1_Missense_Mutation_p.D656E|NFASC_ENST00000404907.1_Missense_Mutation_p.D673E|NFASC_ENST00000367170.4_Missense_Mutation_p.D677E|NFASC_ENST00000513543.1_Missense_Mutation_p.D673E|NFASC_ENST00000367172.4_Missense_Mutation_p.D677E|NFASC_ENST00000338586.6_Missense_Mutation_p.D677E|NFASC_ENST00000367169.4_Missense_Mutation_p.D677E|NFASC_ENST00000360049.4_Missense_Mutation_p.D673E|NFASC_ENST00000339876.6_Missense_Mutation_p.D677E|NFASC_ENST00000539706.1_Missense_Mutation_p.D673E			O94856	NFASC_HUMAN	neurofascin	677	Fibronectin type-III 1. {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)		p.D677E(1)|p.D673E(1)		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)			TCTGGCATGACCATTCCAAGT	0.547																																						uc001hbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2029-2031)GAC>GAA		neurofascin isoform 1 precursor							107.0	104.0	105.0					1																	204948542		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.chr1:204948542C>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.2031C>A	1.37:g.204948542C>A	ENSP00000385637:p.Asp677Glu					NFASC_uc010pra.1_Missense_Mutation_p.D673E|NFASC_uc001hbi.2_Missense_Mutation_p.D673E|NFASC_uc010prb.1_Missense_Mutation_p.D688E|NFASC_uc010prc.1_Missense_Mutation_p.D244E|NFASC_uc001hbk.1_Missense_Mutation_p.D483E|NFASC_uc001hbl.1_5'Flank	p.D677E	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)		19	2359	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		677			Extracellular (Potential).|Fibronectin type-III 1.		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.2031C>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.56|10.56	1.384077|1.384077	0.25031|0.25031	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.17|5.17	4.25|4.25	0.50352|0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.215118|.	0.31092|.	N|.	0.008267|.	T|T	0.23846|0.23846	0.0577|0.0577	N|N	0.02011|0.02011	-0.69|-0.69	0.36496|0.36496	D|D	0.868731|0.868731	B;B;B;B;B;B|.	0.20988|.	0.024;0.031;0.003;0.009;0.05;0.006|.	B;B;B;B;B;B|.	0.25614|.	0.056;0.062;0.003;0.014;0.024;0.003|.	T|T	0.27971|0.27971	-1.0058|-1.0058	10|5	0.02654|.	T|.	1|.	.|.	12.7592|12.7592	0.57354|0.57354	0.0:0.9203:0.0:0.0797|0.0:0.9203:0.0:0.0797	.|.	677;688;673;662;677;673|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	E|N	677;662;677;677;677;677;688;673;673;677;656;677;673;673;664|647	ENSP00000356140:D677E;ENSP00000356139:D662E;ENSP00000356138:D677E;ENSP00000342128:D677E;ENSP00000344786:D677E;ENSP00000343509:D677E;ENSP00000438614:D673E;ENSP00000353154:D673E;ENSP00000356137:D677E;ENSP00000385676:D656E;ENSP00000385637:D677E;ENSP00000384061:D673E;ENSP00000425908:D673E;ENSP00000415031:D664E|.	ENSP00000295776:D688E|.	D|T	+|+	3|2	2|0	NFASC|NFASC	203215165|203215165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	3.126000|3.126000	0.50477|0.50477	2.407000|2.407000	0.81776|0.81776	0.655000|0.655000	0.94253|0.94253	GAC|ACC		PASS	0.547	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		18	30	18	30	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205064080	205064080	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:205064080G>C	ENST00000264515.6	-	13	1650	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	RBBP5_ENST00000367164.1_Intron	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	503					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.L503L(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCCTTTGTAGAGTTTCGGTT	0.493																																						uc001hbu.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1507-1509)CTC>CTG		retinoblastoma binding protein 5							158.0	150.0	153.0					1																	205064080		2203	4300	6503	SO:0001819	synonymous_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205064080G>C	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1509C>G	1.37:g.205064080G>C						RBBP5_uc010prd.1_Silent_p.L538L|RBBP5_uc001hbv.1_Intron|RBBP5_uc010pre.1_Silent_p.L370L	p.L503L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		13	1639	-	Breast(84;0.0505)		503					A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	c.1509C>G	CCDS30983.1																																																																																				PASS	0.493	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		29	43	29	43	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223568618	223568618	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:223568618C>G	ENST00000366875.3	+	1	1904	c.1801C>G	c.(1801-1803)Ccc>Gcc	p.P601A		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		601								p.P601A(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAGAGCGCCTCCCAACAGCTC	0.577																																						uc001hoa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1801-1803)CCC>GCC		hypothetical protein LOC164127							53.0	53.0	53.0					1																	223568618		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568618C>G																												ENST00000366875.3:c.1801C>G	1.37:g.223568618C>G	ENSP00000355840:p.Pro601Ala						p.P601A	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1904	+			601					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1801C>G	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	c	0.037	-1.300796	0.01364	.	.	ENSG00000178395	ENST00000366875	T	0.19250	2.16	5.38	0.29	0.15728	.	.	.	.	.	T	0.05364	0.0142	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	9	0.06236	T	0.91	.	3.1071	0.06345	0.3366:0.262:0.3191:0.0823	.	601	Q8N715	CA065_HUMAN	A	601	ENSP00000355840:P601A	ENSP00000355840:P601A	P	+	1	0	C1orf65	221635241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.441000	0.21611	-0.200000	0.10300	-0.771000	0.03389	CCC		PASS	0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			17	17	17	17	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229772214	229772214	+	Silent	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr1:229772214T>C	ENST00000258243.2	+	4	1990	c.1854T>C	c.(1852-1854)gcT>gcC	p.A618A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	618						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A618A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGGTGGACGCTATGTTCAGTT	0.562																																						uc001hts.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1852-1854)GCT>GCC		URB2 ribosome biogenesis 2 homolog							168.0	169.0	168.0					1																	229772214		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772214T>C	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1854T>C	1.37:g.229772214T>C						URB2_uc009xfd.1_Silent_p.A618A	p.A618A	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1990	+			618					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1854T>C	CCDS31052.1																																																																																				PASS	0.562	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		64	68	64	68	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20137518	20137518	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:20137518G>T	ENST00000345530.3	-	20	2401	c.2286C>A	c.(2284-2286)ctC>ctA	p.L762L	WDR35_ENST00000281405.4_Silent_p.L751L|WDR35_ENST00000416055.2_Silent_p.L327L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	762					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.L762L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCATCTCGAGATACGTTC	0.423																																						uc002rdi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2284-2286)CTC>CTA		WD repeat domain 35 isoform 1							167.0	166.0	167.0					2																	20137518		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20137518G>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2286C>A	2.37:g.20137518G>T						WDR35_uc002rdj.2_Silent_p.L751L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.L327L|WDR35_uc002rdk.3_Silent_p.L327L	p.L762L	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			20	2394	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		762					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.2286C>A	CCDS33152.1																																																																																				PASS	0.423	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		4	83	4	83	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24222688	24222688	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:24222688T>A	ENST00000309033.4	+	7	975	c.731T>A	c.(730-732)aTt>aAt	p.I244N	RN7SL610P_ENST00000463845.2_RNA|UBXN2A_ENST00000535786.1_Missense_Mutation_p.I191N|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.I244N	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	244	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)		p.I244N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GCTGTCATCATTCAGAGACTC	0.418																																						uc010exy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)ATT>AAT		UBX domain containing 4							87.0	91.0	89.0					2																	24222688		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24222688T>A	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.731T>A	2.37:g.24222688T>A	ENSP00000312107:p.Ile244Asn					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.I244N|UBXN2A_uc010ykj.1_Missense_Mutation_p.I191N	p.I244N	NM_181713	NP_859064	P68543	UBX2A_HUMAN			8	1199	+			244			UBX.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.731T>A	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635721	0.67130	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.47528	0.84;0.84;0.84	4.99	3.84	0.44239	UBX (3);	0.050370	0.85682	D	0.000000	T	0.64294	0.2585	M	0.79926	2.475	0.32045	N	0.597745	D;D	0.65815	0.989;0.995	P;D	0.63283	0.726;0.913	T	0.72434	-0.4295	10	0.87932	D	0	-6.4121	8.8583	0.35242	0.0:0.089:0.0:0.911	.	191;244	B7ZKP8;P68543	.;UBX2A_HUMAN	N	244;244;191	ENSP00000385525:I244N;ENSP00000312107:I244N;ENSP00000440533:I191N	ENSP00000312107:I244N	I	+	2	0	UBXN2A	24076192	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	5.236000	0.65354	1.002000	0.39104	0.459000	0.35465	ATT		PASS	0.418	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		10	52	10	52	---	---	---	---
NDUFAF7	55471	broad.mit.edu	37	2	37474646	37474646	+	Silent	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:37474646A>T	ENST00000002125.4	+	9	1024	c.984A>T	c.(982-984)acA>acT	p.T328T	NDUFAF7_ENST00000336237.6_Silent_p.T230T	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	328					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.T328T(1)									CCCCAGGAACAGCAGATCTAA	0.388																																						uc002rqa.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(982-984)ACA>ACT		hypothetical protein LOC55471 isoform 1							97.0	90.0	92.0					2																	37474646		2203	4300	6503	SO:0001819	synonymous_variant	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37474646A>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.984A>T	2.37:g.37474646A>T						C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.T230T|C2orf56_uc010ynk.1_Silent_p.T257T|C2orf56_uc010ynl.1_Silent_p.T301T|C2orf56_uc010fah.2_RNA	p.T328T	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			9	1059	+		all_hematologic(82;0.21)	328					Q7Z399|Q9P1G3	Silent	SNP	ENST00000002125.4	37	c.984A>T	CCDS1788.1																																																																																				PASS	0.388	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		17	43	17	43	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530055	80530055	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:80530055G>T	ENST00000295057.3	-	2	1546	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P297H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	297					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P297H(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGGATCCGGGGCTCGATGTA	0.622										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(889-891)CCC>CAC		leucine rich repeat transmembrane neuronal 1							56.0	55.0	56.0					2																	80530055		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530055G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.890C>A	2.37:g.80530055G>T	ENSP00000295057:p.Pro297His	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P297H	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1160	-			297			LRR 9.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.890C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638492	0.29157	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.60920	0.15;0.15	5.26	4.38	0.52667	.	0.216987	0.39407	U	0.001365	T	0.56077	0.1961	M	0.72624	2.21	0.47308	D	0.999382	B	0.12013	0.005	B	0.15052	0.012	T	0.53049	-0.8493	9	.	.	.	.	13.7814	0.63085	0.0744:0.0:0.9256:0.0	.	297	Q86UE6	LRRT1_HUMAN	H	297	ENSP00000295057:P297H;ENSP00000386646:P297H	.	P	-	2	0	LRRTM1	80383566	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.846000	0.62860	1.189000	0.43028	0.655000	0.94253	CCC		PASS	0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		6	24	6	24	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98375392	98375393	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:98375392_98375393CC>AA	ENST00000186436.5	-	40	5558_5559	c.5330_5331GG>TT	c.(5329-5331)tGG>tTT	p.W1777F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1777	Ser-rich.					integral component of membrane (GO:0016021)		p.W1777F(1)|p.W1777C(1)|p.W1777L(1)|p.W1664F(1)|p.W1664C(1)|p.W1664L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACTGGCTGGCCAGGAAGGACT	0.614																																						uc002syh.3																			6	Substitution - Missense(6)		lung(6)	ovary(4)|central_nervous_system(2)	6						c.(5329-5331)TGG>TGT|c.(5329-5331)TGG>TTG		RW1 protein																																				SO:0001583	missense	23505					integral to membrane		g.chr2:98375392C>A|g.chr2:98375393C>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5330_5331delinsAA	2.37:g.98375392_98375393delinsAA	ENSP00000186436:p.Trp1777Phe					TMEM131_uc002syg.2_Missense_Mutation_p.W157C|TMEM131_uc002syg.2_Missense_Mutation_p.W157L	p.W1777C|p.W1777L	NM_015348	NP_056163	Q92545	TM131_HUMAN			40	5560|5559	-			1777			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5331G>T|c.5330G>T	CCDS46368.1																																																																																				PASS	0.614	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5|6	6|8	5	6	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136422968	136422968	+	Intron	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:136422968G>C	ENST00000264160.4	+	18	2417				R3HDM1_ENST00000409606.1_Intron|R3HDM1_ENST00000329971.3_Intron|MIR128-1_ENST00000384921.1_RNA|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409478.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTTGTTCCTGAGCTGTTGGA	0.403																																						hsa-mir-128-1|MI0000447																			0					0															148.0	131.0	137.0					2																	136422968		1568	3582	5150	SO:0001627	intron_variant	406915							g.chr2:136422968G>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2047+4005G>C	2.37:g.136422968G>C						R3HDM1_uc002tuo.2_Intron|R3HDM1_uc010fni.2_Intron|R3HDM1_uc002tup.2_Intron|R3HDM1_uc010zbh.1_Intron|uc010zbi.1_RNA										+								A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	RNA	SNP	ENST00000264160.4	37	c.2G>C	CCDS2177.1																																																																																				PASS	0.403	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		5	52	5	52	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136423002	136423002	+	Intron	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:136423002G>C	ENST00000264160.4	+	18	2417				R3HDM1_ENST00000409606.1_Intron|R3HDM1_ENST00000329971.3_Intron|MIR128-1_ENST00000384921.1_RNA|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409478.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACTGTCTGAGAGGTTTACAT	0.408																																						hsa-mir-128-1|MI0000447																			0					0															150.0	133.0	138.0					2																	136423002		1568	3582	5150	SO:0001627	intron_variant	406915							g.chr2:136423002G>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2047+4039G>C	2.37:g.136423002G>C						R3HDM1_uc002tuo.2_Intron|R3HDM1_uc010fni.2_Intron|R3HDM1_uc002tup.2_Intron|R3HDM1_uc010zbh.1_Intron|uc010zbi.1_RNA										+								A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	RNA	SNP	ENST00000264160.4	37	c.36G>C	CCDS2177.1																																																																																				PASS	0.408	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		6	48	6	48	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141299491	141299491	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:141299491T>A	ENST00000389484.3	-	44	8215	c.7244A>T	c.(7243-7245)gAc>gTc	p.D2415V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2415					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D2415V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATATAATTGTCATAAACAGC	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7243-7245)GAC>GTC		low density lipoprotein-related protein 1B							82.0	78.0	79.0					2																	141299491		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299491T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7244A>T	2.37:g.141299491T>A	ENSP00000374135:p.Asp2415Val	TSP Lung(27;0.18)					p.D2415V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8216	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2415			Extracellular (Potential).|LDL-receptor class B 26.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7244A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611396	0.66558	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92699	-3.09	5.46	3.1	0.35709	Six-bladed beta-propeller, TolB-like (1);	0.339500	0.27549	U	0.018877	D	0.86146	0.5863	L	0.41824	1.3	0.46901	D	0.999247	B	0.30763	0.294	B	0.24974	0.057	T	0.82868	-0.0244	10	0.52906	T	0.07	.	9.3503	0.38133	0.0:0.1455:0.0:0.8545	.	2415	Q9NZR2	LRP1B_HUMAN	V	2415;2353	ENSP00000374135:D2415V	ENSP00000374135:D2415V	D	-	2	0	LRP1B	141015961	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.428000	0.34892	0.899000	0.36444	0.402000	0.26972	GAC		PASS	0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	28	9	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495591	179495591	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:179495591G>C	ENST00000591111.1	-	188	39395	c.39171C>G	c.(39169-39171)atC>atG	p.I13057M	TTN_ENST00000589042.1_Missense_Mutation_p.I14698M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5758M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5633M|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5825M|TTN_ENST00000342992.6_Missense_Mutation_p.I12130M|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13057					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I12130M(2)|p.I5758M(1)|p.I5825M(1)|p.I5633M(1)|p.I5825I(1)|p.I5633I(1)|p.I12130I(1)|p.I5758I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTCAGAGATTTCGGTTT	0.493																																						uc010zfg.1																			9	Substitution - Missense(5)|Substitution - coding silent(4)		lung(5)|large_intestine(4)	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.(36388-36390)ATC>ATG		titin isoform N2-A							138.0	134.0	136.0					2																	179495591		1930	4144	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495591G>C	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.39171C>G	2.37:g.179495591G>C	ENSP00000465570:p.Ile13057Met					TTN_uc010zfh.1_Missense_Mutation_p.I5825M|TTN_uc010zfi.1_Missense_Mutation_p.I5758M|TTN_uc010zfj.1_Missense_Mutation_p.I5633M	p.I12130M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		187	36614	-			13057					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36390C>G		.	.	.	.	.	.	.	.	.	.	G	11.64	1.698159	0.30142	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63510	0.2517	M	0.83953	2.67	0.42596	D	0.993269	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.66964	-0.5790	9	0.87932	D	0	.	14.7514	0.69528	0.0:0.0:0.7464:0.2536	.	5633;5758;5825;13057	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12130;5633;5825;5758;5633	ENSP00000343764:I12130M;ENSP00000434586:I5633M;ENSP00000340554:I5825M;ENSP00000352154:I5758M	ENSP00000340554:I5825M	I	-	3	3	TTN	179203836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.454000	0.44979	2.941000	0.99782	0.655000	0.94253	ATC		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	90	19	90	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187627145	187627145	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:187627145G>C	ENST00000304698.5	+	8	2279	c.2076G>C	c.(2074-2076)ctG>ctC	p.L692L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	692						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L692L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTATAGACCTGAAAAAGGGCA	0.507																																						uc002ups.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2074-2076)CTG>CTC		KIAA1946							61.0	63.0	63.0					2																	187627145		2203	4300	6503	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187627145G>C	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2076G>C	2.37:g.187627145G>C						FAM171B_uc002upr.1_Silent_p.L659L|FAM171B_uc002upt.2_Silent_p.L161L	p.L692L	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2188	+			692			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.2076G>C	CCDS33347.1																																																																																				PASS	0.507	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		9	35	9	35	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190530930	190530930	+	Silent	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:190530930A>G	ENST00000260952.4	+	4	485	c.72A>G	c.(70-72)ctA>ctG	p.L24L	ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	24	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.L24L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGGACTTACTATATAATCTTA	0.358																																						uc002uqt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(70-72)CTA>CTG		asparagine synthetase domain containing 1							103.0	104.0	104.0					2																	190530930		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190530930A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.72A>G	2.37:g.190530930A>G							p.L24L	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	506	+			24			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.72A>G	CCDS2300.1																																																																																				PASS	0.358	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		21	53	21	53	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190569878	190569878	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:190569878A>G	ENST00000520309.1	+	8	1926	c.1838A>G	c.(1837-1839)tAt>tGt	p.Y613C	ANKAR_ENST00000313581.4_Missense_Mutation_p.Y613C|ANKAR_ENST00000281412.6_Missense_Mutation_p.Y377C|ANKAR_ENST00000438402.2_Missense_Mutation_p.Y613C|ANKAR_ENST00000431575.2_Missense_Mutation_p.Y542C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	613						integral component of membrane (GO:0016021)		p.Y613C(1)|p.Y542C(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCCGCTTTCTATGACAACGTT	0.413																																						uc002uqw.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1624-1626)TAT>TGT		ankyrin and armadillo repeat containing							166.0	159.0	161.0					2																	190569878		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190569878A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1838A>G	2.37:g.190569878A>G	ENSP00000427882:p.Tyr613Cys					ANKAR_uc002uqu.2_RNA	p.Y542C	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1625	+			613			ANK 3.		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1625A>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088133	0.76642	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.49	5.49	0.81192	.	0.000000	0.47093	D	0.000243	T	0.71451	0.3341	M	0.64404	1.975	0.48571	D	0.999671	.	.	.	.	.	.	T	0.71988	-0.4426	8	0.45353	T	0.12	-17.9306	14.5683	0.68194	1.0:0.0:0.0:0.0	.	.	.	.	C	613;613;613;542;377	ENSP00000427882:Y613C;ENSP00000313513:Y613C;ENSP00000397243:Y613C;ENSP00000393043:Y542C;ENSP00000281412:Y377C	ENSP00000281412:Y377C	Y	+	2	0	ANKAR	190278123	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.665000	0.61547	2.081000	0.62600	0.459000	0.35465	TAT		PASS	0.413	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		25	62	25	62	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196756523	196756523	+	Silent	SNP	T	T	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:196756523T>G	ENST00000312428.6	-	31	5002	c.4902A>C	c.(4900-4902)ctA>ctC	p.L1634L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1634	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L1634L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCTTCCATTAGCCCCTTAA	0.328																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(4900-4902)CTA>CTC		dynein, axonemal, heavy chain 7							97.0	85.0	89.0					2																	196756523		1814	4071	5885	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196756523T>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4902A>C	2.37:g.196756523T>G							p.L1634L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			31	5003	-			1634			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.4902A>C	CCDS42794.1																																																																																				PASS	0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	10	7	10	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197530317	197530317	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:197530317G>T	ENST00000389175.4	+	6	807	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	224								p.K224N(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCAGGAGAAGTACCTTAGGG	0.403																																						uc002utp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)AAG>AAT		coiled-coil domain containing 150							67.0	65.0	66.0					2																	197530317		1901	4119	6020	SO:0001583	missense	284992							g.chr2:197530317G>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.672G>T	2.37:g.197530317G>T	ENSP00000373827:p.Lys224Asn					CCDC150_uc002uto.1_Missense_Mutation_p.K224N|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.K224N	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			6	807	+			224			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.672G>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	5.747	0.322263	0.10900	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30714	1.52	4.99	3.15	0.36227	.	0.741356	0.12278	N	0.483235	T	0.28001	0.0690	L	0.51422	1.61	0.24779	N	0.992824	P;P	0.44429	0.557;0.835	B;B	0.42798	0.224;0.398	T	0.18555	-1.0333	10	0.56958	D	0.05	.	4.7144	0.12887	0.1836:0.0:0.6439:0.1726	.	224;224	Q8NCX0;F5H6M2	CC150_HUMAN;.	N	224	ENSP00000373827:K224N	ENSP00000373827:K224N	K	+	3	2	CCDC150	197238562	0.883000	0.30277	0.950000	0.38849	0.018000	0.09664	0.655000	0.24933	1.318000	0.45170	0.491000	0.48974	AAG		PASS	0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		14	23	14	23	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209027951	209027952	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:209027951_209027952GG>TT	ENST00000304502.4	-	2	247_248	c.228_229CC>AA	c.(226-231)gtCCaa>gtAAaa	p.Q77K		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	77	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.Q77K(2)|p.V76V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CGGCAGGATTGGACCGAGTCGC	0.5																																						uc002vcq.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(229-231)CAA>AAA|c.(226-228)GTC>GTA		crystallin, gamma A																																				SO:0001583	missense	1418				visual perception		structural constituent of eye lens	g.chr2:209027951G>T|g.chr2:209027952G>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.228_229delinsTT	2.37:g.209027951_209027952delinsTT	ENSP00000302105:p.Gln77Lys						p.Q77K|p.V76V	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	246|245	-			77|76			Beta/gamma crystallin 'Greek key' 2.		Q53ST5	Missense_Mutation|Silent	SNP	ENST00000304502.4	37	c.229C>A|c.228C>A	CCDS33367.1																																																																																				PASS	0.500	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		20	32	20	32	---	---	---	---
TUBA4A	7277	broad.mit.edu	37	2	220115571	220115571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:220115571C>A	ENST00000248437.4	-	4	1023	c.850G>T	c.(850-852)Gag>Tag	p.E284*	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Nonsense_Mutation_p.E269*|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	284					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E284*(1)|p.E269*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GACAGCTGCTCGTGGTATGCC	0.582																																						uc002vkt.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(850-852)GAG>TAG		tubulin, alpha 4a							105.0	98.0	100.0					2																	220115571		2203	4300	6503	SO:0001587	stop_gained	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115571C>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.850G>T	2.37:g.220115571C>A	ENSP00000248437:p.Glu284*					TUBA4A_uc010zkz.1_Nonsense_Mutation_p.E269*|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.E284*	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	908	-		Renal(207;0.0474)	284					A8MUB1|B3KNQ6|P05215	Nonsense_Mutation	SNP	ENST00000248437.4	37	c.850G>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	40	7.915630	0.98560	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	.	.	.	X	284;269;131	.	ENSP00000248437:E284X	E	-	1	0	TUBA4A	219823815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.538000	0.82048	2.837000	0.97791	0.655000	0.94253	GAG		PASS	0.582	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		4	81	4	81	---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223559869	223559869	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:223559869C>A	ENST00000446656.3	+	5	715	c.715C>A	c.(715-717)Cct>Act	p.P239T	snoU13_ENST00000459212.1_RNA	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	239					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.P238T(2)|p.P239T(2)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AACTGACAACCCTGAAGGATC	0.423																																					Ovarian(93;205 1446 2385 11581 25911)	uc010fws.1																			4	Substitution - Missense(4)		lung(4)	breast(1)	1						c.(715-717)CCT>ACT		monoacylglycerol O-acyltransferase 1							101.0	92.0	95.0					2																	223559869		1838	4086	5924	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223559869C>A	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.715C>A	2.37:g.223559869C>A	ENSP00000406674:p.Pro239Thr					MOGAT1_uc010fwt.1_Missense_Mutation_p.P199T	p.P239T	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	5	763	+		Renal(207;0.0183)	239					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.715C>A	CCDS46524.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.480922	0.44044	.	.	ENSG00000124003	ENST00000446656	T	0.15603	2.41	4.84	4.84	0.62591	.	0.166782	0.42172	D	0.000746	T	0.41073	0.1143	M	0.83384	2.64	0.58432	D	0.999998	P	0.42649	0.786	P	0.53722	0.733	T	0.31138	-0.9954	10	0.46703	T	0.11	-6.834	18.1489	0.89668	0.0:1.0:0.0:0.0	.	239	Q96PD6	MOGT1_HUMAN	T	239	ENSP00000406674:P239T	ENSP00000406674:P239T	P	+	1	0	MOGAT1	223268113	1.000000	0.71417	0.047000	0.18901	0.017000	0.09413	5.401000	0.66326	2.503000	0.84419	0.551000	0.68910	CCT		PASS	0.423	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		8	22	8	22	---	---	---	---
ING5	84289	broad.mit.edu	37	2	242662685	242662685	+	Splice_Site	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:242662685T>C	ENST00000313552.6	+	7	705	c.679T>C	c.(679-681)Tgg>Cgg	p.W227R	AC114730.11_ENST00000435195.1_RNA|ING5_ENST00000406941.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	227					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W227R(1)		large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CAAAGGAAAATGGTGAGTGTG	0.552																																						uc002wcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TGG>CGG		inhibitor of growth family, member 5							205.0	213.0	210.0					2																	242662685		2203	4300	6503	SO:0001630	splice_region_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242662685T>C	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.680+1T>C	2.37:g.242662685T>C							p.W227R	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	704	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	227			PHD-type.		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.679T>C	CCDS33425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.14|19.14	3.769650|3.769650	0.69992|0.69992	.|.	.|.	ENSG00000168395|ENSG00000168395	ENST00000313552|ENST00000406941	D|.	0.92348|.	-3.02|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|.	0.91925|.	0.7443|.	H|H	0.99820|0.99820	4.81|4.81	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.95624|.	0.8683|.	10|.	0.87932|.	D|.	0|.	-18.1095|-18.1095	15.898|15.898	0.79350|0.79350	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	227|.	Q8WYH8|.	ING5_HUMAN|.	R|R	227|227	ENSP00000322142:W227R|.	ENSP00000322142:W227R|.	W|X	+|+	1|1	0|0	ING5|ING5	242311358|242311358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.054000|7.054000	0.76649|0.76649	2.156000|2.156000	0.67533|0.67533	0.523000|0.523000	0.50628|0.50628	TGG|TGA		PASS	0.552	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329	Missense_Mutation	38	108	38	108	---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242755806	242755806	+	Missense_Mutation	SNP	A	A	G	rs368132672		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr2:242755806A>G	ENST00000391969.2	+	3	836	c.125A>G	c.(124-126)cAg>cGg	p.Q42R	NEU4_ENST00000407683.1_Missense_Mutation_p.Q42R|NEU4_ENST00000325935.6_Missense_Mutation_p.Q55R|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Missense_Mutation_p.Q54R|NEU4_ENST00000405370.1_Missense_Mutation_p.Q42R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	42					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.Q54R(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTGGAGCAGCGGCTCAGC	0.741													A|||	1	0.000199681	0.0	0.0	5008	,	,		12107	0.0		0.001	False		,,,				2504	0.0					uc010fzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CAG>CGG		sialidase 4		A	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN	0,4388		0,0,2194	12.0	14.0	13.0		164,125,125,125,161	3.8	0.9	2		13	2,8578		0,2,4288	no	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	43,43,43,43,43	0,2,6482	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	55/498,42/485,42/485,42/485,54/497	242755806	2,12966	2194	4290	6484	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755806A>G	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.125A>G	2.37:g.242755806A>G	ENSP00000375830:p.Gln42Arg					NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.Q42R|NEU4_uc002wcn.1_Missense_Mutation_p.Q54R|NEU4_uc002wco.1_Missense_Mutation_p.Q42R|NEU4_uc002wcp.1_Missense_Mutation_p.Q54R	p.Q42R	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	211	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	42					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.125A>G	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044651	0.55110	0.0	2.33E-4	ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	D;D;D;D;D;D;D;D;D;D;T	0.87256	-2.23;-1.75;-2.23;-2.23;-2.23;-2.23;-2.23;-1.75;-1.75;-2.23;2.99	3.77	3.77	0.43336	Neuraminidase (2);	0.119316	0.56097	U	0.000039	D	0.84019	0.5380	L	0.33485	1.01	0.33327	D	0.568084	P;P;B	0.52692	0.955;0.944;0.213	P;P;B	0.52343	0.696;0.57;0.115	T	0.83285	-0.0036	10	0.12766	T	0.61	-16.1045	12.4684	0.55773	1.0:0.0:0.0:0.0	.	54;54;42	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	R	42;42;42;42;54;42;55;42;54;42;83	ENSP00000385402:Q42R;ENSP00000397167:Q42R;ENSP00000384804:Q42R;ENSP00000397860:Q42R;ENSP00000385149:Q54R;ENSP00000375830:Q42R;ENSP00000320318:Q55R;ENSP00000398571:Q42R;ENSP00000406678:Q54R;ENSP00000388707:Q42R;ENSP00000396197:Q83R	ENSP00000320318:Q55R	Q	+	2	0	NEU4	242404479	1.000000	0.71417	0.937000	0.37676	0.736000	0.42039	5.260000	0.65490	1.349000	0.45751	0.368000	0.22195	CAG		PASS	0.741	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		3	5	3	5	---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19924172	19924172	+	Missense_Mutation	SNP	C	C	T	rs149572350	byFrequency	TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:19924172C>T	ENST00000295824.9	-	12	2359	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	EFHB_ENST00000344838.4_Missense_Mutation_p.R603Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	733							calcium ion binding (GO:0005509)	p.R733Q(1)|p.R731Q(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GCGACGAATTCGGGGAGCAGG	0.423													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15320	0.0		0.002	False		,,,				2504	0.0					uc003cbl.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2197-2199)CGA>CAA		EF hand domain family, member B		C	GLN/ARG	0,4406		0,0,2203	97.0	80.0	86.0		2198	4.7	1.0	3	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense	EFHB	NM_144715.3	43	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	possibly-damaging	733/834	19924172	8,12998	2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19924172C>T	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2198G>A	3.37:g.19924172C>T	ENSP00000295824:p.Arg733Gln					EFHB_uc003cbm.2_Missense_Mutation_p.R603Q	p.R733Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			12	2394	-			733					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2198G>A	CCDS33715.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.2	4.712762	0.89112	0.0	9.3E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.26373	1.74;1.76	5.54	4.66	0.58398	.	0.069907	0.64402	D	0.000015	T	0.42314	0.1197	M	0.68317	2.08	0.45837	D	0.998707	D;D	0.89917	1.0;0.999	P;P	0.61477	0.889;0.889	T	0.28744	-1.0034	9	.	.	.	-6.2252	9.5016	0.39022	0.1438:0.7852:0.0:0.071	.	603;733	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Q	733;603	ENSP00000295824:R733Q;ENSP00000342263:R603Q	.	R	-	2	0	EFHB	19899176	0.845000	0.29573	0.996000	0.52242	0.965000	0.64279	1.584000	0.36589	1.462000	0.47948	0.650000	0.86243	CGA		PASS	0.423	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		15	14	15	14	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36898233	36898233	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:36898233G>T	ENST00000429976.2	-	12	3095	c.2848C>A	c.(2848-2850)Cgc>Agc	p.R950S	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1198-1200)CGC>AGC		lupus brain antigen 1							197.0	193.0	194.0					3																	36898233		2061	4213	6274	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898233G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2848C>A	3.37:g.36898233G>T	ENSP00000416168:p.Arg950Ser						p.R400S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1500	-			950					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1198C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182752	0.78677	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.75;1.33	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	T	0.50854	0.1640	L	0.32530	0.975	0.52501	D	0.999952	D	0.89917	1.0	D	0.67548	0.952	T	0.49163	-0.8968	10	0.59425	D	0.04	.	19.7548	0.96285	0.0:0.0:1.0:0.0	.	950	O15050	TRNK1_HUMAN	S	400;950;400	ENSP00000416826:R400S;ENSP00000416168:R950S;ENSP00000301807:R400S	ENSP00000301807:R400S	R	-	1	0	TRANK1	36873237	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.499000	0.81566	2.759000	0.94783	0.549000	0.68633	CGC		PASS	0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	126	5	126	---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47618715	47618715	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:47618715G>T	ENST00000383738.2	-	2	2899	c.801C>A	c.(799-801)ccC>ccA	p.P267P	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.P129P|CSPG5_ENST00000264723.4_Silent_p.P267P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	267	Interaction with TNC and TNR. {ECO:0000250}.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.P267P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGATGTGGTGGGGTAGAAAT	0.483																																						uc003crp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(799-801)CCC>CCA		chondroitin sulfate proteoglycan 5 (neuroglycan							22.0	24.0	23.0					3																	47618715		2203	4300	6503	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618715G>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.801C>A	3.37:g.47618715G>T						CSPG5_uc003crn.2_Silent_p.P129P|CSPG5_uc003cro.3_Silent_p.P267P|CSPG5_uc011bbb.1_Silent_p.P129P	p.P267P	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	977	-			267			Interaction with TNC and TNR (By similarity).|Extracellular (Potential).		Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.801C>A	CCDS56253.1																																																																																				PASS	0.483	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		3	6	3	6	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51749755	51749755	+	Missense_Mutation	SNP	C	C	A	rs375087136		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:51749755C>A	ENST00000395052.3	+	4	2200	c.1966C>A	c.(1966-1968)Cgc>Agc	p.R656S	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	656					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R656S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAAGACCAACCGCATTGCACG	0.612																																						uc010hlv.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1966-1968)CGC>AGC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						91.0	78.0	82.0					3																	51749755		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749755C>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1966C>A	3.37:g.51749755C>A	ENSP00000378492:p.Arg656Ser					GRM2_uc003dbo.3_Missense_Mutation_p.R38S|GRM2_uc010hlu.2_RNA	p.R656S	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2205	+			656			Cytoplasmic (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1966C>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742788	0.69418	.	.	ENSG00000164082	ENST00000395052	D	0.90261	-2.64	5.16	4.29	0.51040	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.74546	2.27	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.94634	0.7824	10	0.59425	D	0.04	.	14.0507	0.64734	0.0:0.9267:0.0:0.0733	.	656	Q14416	GRM2_HUMAN	S	656	ENSP00000378492:R656S	ENSP00000378492:R656S	R	+	1	0	GRM2	51724795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.168000	0.50801	1.324000	0.45282	0.561000	0.74099	CGC		PASS	0.612	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			15	6	15	6	---	---	---	---
TWF2	11344	broad.mit.edu	37	3	52265552	52265552	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:52265552G>C	ENST00000305533.5	-	4	529	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_5'Flank|TWF2_ENST00000499914.2_Missense_Mutation_p.R96G	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	96	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.R96G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCTTCAGCCGCACCTGAAGG	0.607											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ddd.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(286-288)CGG>GGG		twinfilin-like protein							82.0	78.0	80.0					3																	52265552		2203	4300	6503	SO:0001583	missense	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52265552G>C	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.286C>G	3.37:g.52265552G>C	ENSP00000303908:p.Arg96Gly		OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_uc003ddb.2_5'Flank|TLR9_uc003ddc.1_5'Flank|TWF2_uc010hmc.2_Missense_Mutation_p.R96G	p.R96G	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	437	-			96			ADF-H 1.		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.286C>G	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899325	0.72754	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.40476	1.03;1.03	5.43	5.43	0.79202	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.70710	0.3255	M	0.93978	3.48	0.52099	D	0.999942	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.969	T	0.77542	-0.2549	9	0.87932	D	0	.	10.752	0.46216	0.0:0.123:0.6752:0.2018	.	96;96	D6RG15;Q6IBS0	.;TWF2_HUMAN	G	96	ENSP00000303908:R96G;ENSP00000426464:R96G	ENSP00000303908:R96G	R	-	1	2	TWF2	52240592	0.913000	0.31002	1.000000	0.80357	0.984000	0.73092	1.277000	0.33167	2.537000	0.85549	0.462000	0.41574	CGG		PASS	0.607	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			13	29	13	29	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806719	97806719	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:97806719G>T	ENST00000358642.2	+	1	703	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	235					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.G235C(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GTCTGAAAAGGGCAGAAGCAA	0.398																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(703-705)GGC>TGC		olfactory receptor, family 5, subfamily AC,							53.0	50.0	51.0					3																	97806719		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806719G>T	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.703G>T	3.37:g.97806719G>T	ENSP00000351466:p.Gly235Cys						p.G235C	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	703	+			235			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.703G>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155050	0.57259	.	.	ENSG00000196578	ENST00000358642	T	0.00304	8.19	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.210432	0.23662	U	0.045815	T	0.01421	0.0046	H	0.99058	4.415	0.23936	N	0.996413	D	0.89917	1.0	D	0.91635	0.999	T	0.19224	-1.0312	10	0.87932	D	0	-10.5112	14.7152	0.69262	0.0:0.0:1.0:0.0	.	235	Q9NZP5	O5AC2_HUMAN	C	235	ENSP00000351466:G235C	ENSP00000351466:G235C	G	+	1	0	OR5AC2	99289409	0.002000	0.14202	0.920000	0.36463	0.949000	0.60115	0.940000	0.28992	2.321000	0.78463	0.523000	0.50628	GGC		PASS	0.398	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			22	19	22	19	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518583	98518583	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:98518583G>T	ENST00000326840.6	-	16	2323	c.1961C>A	c.(1960-1962)cCt>cAt	p.P654H	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P668H	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	654					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.P654H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGAGTTGTAAGGATCTAGGTC	0.468																																						uc003dtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1960-1962)CCT>CAT		discoidin, CUB and LCCL domain containing 2							116.0	109.0	111.0					3																	98518583		1937	4138	6075	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518583G>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1961C>A	3.37:g.98518583G>T	ENSP00000321573:p.Pro654His					DCBLD2_uc003dte.2_Missense_Mutation_p.P668H	p.P654H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			16	2324	-			654			Cytoplasmic (Potential).		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1961C>A	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359441	0.24598	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.31247	1.5;1.5	5.73	4.86	0.63082	.	0.189258	0.47852	D	0.000203	T	0.31167	0.0788	N	0.25485	0.75	0.41583	D	0.988755	P;P	0.52692	0.955;0.948	P;P	0.52710	0.707;0.594	T	0.03555	-1.1025	10	0.24483	T	0.36	-18.5009	12.3437	0.55109	0.0815:0.0:0.9185:0.0	.	668;654	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	H	654;668	ENSP00000321573:P654H;ENSP00000321646:P668H	ENSP00000321573:P654H	P	-	2	0	DCBLD2	100001273	1.000000	0.71417	0.896000	0.35187	0.955000	0.61496	4.187000	0.58344	1.422000	0.47177	0.655000	0.94253	CCT		PASS	0.468	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		5	72	5	72	---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112198390	112198390	+	Silent	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:112198390C>G	ENST00000334529.5	-	2	517	c.315G>C	c.(313-315)gtG>gtC	p.V105V	BTLA_ENST00000383680.4_Silent_p.V105V	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	105	Ig-like V-type.			V -> M (in Ref. 1; AAP44003). {ECO:0000305}.	immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V105V(1)		breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CATTAGGAAGCACTGGTTCAA	0.373																																						uc003dza.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)GTG>GTC		B and T lymphocyte associated isoform 1							178.0	172.0	174.0					3																	112198390		2203	4300	6503	SO:0001819	synonymous_variant	151888				T cell costimulation		receptor activity	g.chr3:112198390C>G	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.315G>C	3.37:g.112198390C>G						BTLA_uc003dzb.3_Silent_p.V105V	p.V105V	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN			2	518	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	105	V -> M (in Ref. 1; AAP44003).		Ig-like V-type.|Extracellular (Potential).		Q3B831|Q3HS85|Q6ZNH9	Silent	SNP	ENST00000334529.5	37	c.315G>C	CCDS33819.1																																																																																				PASS	0.373	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		58	103	58	103	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113524215	113524215	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:113524215A>G	ENST00000273398.3	+	14	1712	c.1604A>G	c.(1603-1605)tAc>tGc	p.Y535C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Y502C|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	535					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)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Y535C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TGCCCATTCTACAAGACAGTA	0.363																																						uc003eao.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1603-1605)TAC>TGC		ATPase, H+ transporting, lysosomal V1 subunit A							103.0	96.0	98.0					3																	113524215		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113524215A>G	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1604A>G	3.37:g.113524215A>G	ENSP00000273398:p.Tyr535Cys					ATP6V1A_uc011bik.1_Missense_Mutation_p.Y502C	p.Y535C	NM_001690	NP_001681	P38606	VATA_HUMAN			14	1670	+			535					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.1604A>G	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040655	0.75732	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.77358	-1.09;-1.09	5.96	4.81	0.61882	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89805	0.6821	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90811	0.4701	10	0.59425	D	0.04	-2.2953	12.0793	0.53662	0.9331:0.0:0.0669:0.0	.	535	P38606	VATA_HUMAN	C	252;535;502	ENSP00000273398:Y535C;ENSP00000439874:Y502C	ENSP00000273398:Y535C	Y	+	2	0	ATP6V1A	115006905	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.296000	0.96104	1.081000	0.41110	0.533000	0.62120	TAC		PASS	0.363	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		21	35	21	35	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121489331	121489331	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:121489331T>C	ENST00000310864.6	-	15	1872	c.1658A>G	c.(1657-1659)cAt>cGt	p.H553R	IQCB1_ENST00000349820.6_Missense_Mutation_p.H420R	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	553					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.H553R(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGTTGTGAGATGGGCCTGCTT	0.502																																						uc010hre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1657-1659)CAT>CGT		IQ motif containing B1 isoform a							183.0	176.0	178.0					3																	121489331		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489331T>C	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1658A>G	3.37:g.121489331T>C	ENSP00000311505:p.His553Arg					IQCB1_uc003eek.2_Missense_Mutation_p.H420R|IQCB1_uc010hrf.1_RNA	p.H553R	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1873	-			553					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1658A>G	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847111	0.71603	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79352	-1.26;-1.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	L	0.59436	1.845	0.51482	D	0.999929	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	D	0.86015	0.1503	10	0.72032	D	0.01	-12.5145	11.909	0.52729	0.0:0.0:0.0:1.0	.	553;420	Q15051;Q15051-2	IQCB1_HUMAN;.	R	553;420	ENSP00000311505:H553R;ENSP00000323756:H420R	ENSP00000311505:H553R	H	-	2	0	IQCB1	122972021	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	5.019000	0.64060	2.304000	0.77564	0.528000	0.53228	CAT		PASS	0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		42	72	42	72	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124738345	124738345	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:124738345C>A	ENST00000311127.4	-	5	1416	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	450					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R450I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCTCCACCTCTCATGGGTGC	0.507																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1348-1350)AGA>ATA		HEG homolog 1 precursor							214.0	209.0	211.0					3																	124738345		2120	4242	6362	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738345C>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1349G>T	3.37:g.124738345C>A	ENSP00000311502:p.Arg450Ile					HEG1_uc011bke.1_Missense_Mutation_p.R450I	p.R450I	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			5	1417	-			450			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1349G>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052234	0.36181	.	.	ENSG00000173706	ENST00000311127	D	0.90900	-2.75	5.39	-1.17	0.09648	.	.	.	.	.	D	0.86986	0.6065	L	0.57536	1.79	0.09310	N	1	P;P	0.44380	0.834;0.744	B;B	0.43052	0.406;0.165	T	0.77127	-0.2702	9	0.48119	T	0.1	.	5.9548	0.19267	0.0:0.4833:0.1243:0.3924	.	450;450	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	I	450	ENSP00000311502:R450I	ENSP00000311502:R450I	R	-	2	0	HEG1	126221035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.682000	0.05185	-0.423000	0.07394	-0.806000	0.03193	AGA		PASS	0.507	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		7	250	7	250	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130305389	130305389	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:130305389C>T	ENST00000358511.6	+	10	4041	c.4010C>T	c.(4009-4011)gCt>gTt	p.A1337V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1337V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1337	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A1337V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATGGACCTGCTGATTCAAGT	0.448																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4009-4011)GCT>GTT		collagen type VI alpha 6 precursor							207.0	203.0	204.0					3																	130305389		1959	4172	6131	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130305389C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4010C>T	3.37:g.130305389C>T	ENSP00000351310:p.Ala1337Val					COL6A6_uc003eni.3_5'UTR	p.A1337V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			10	4041	+			1337			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4010C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467153	0.26335	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.36878	1.23;1.23	5.65	0.372	0.16173	von Willebrand factor, type A (2);	.	.	.	.	T	0.23926	0.0579	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26677	-1.0096	9	0.22109	T	0.4	.	1.5681	0.02608	0.2369:0.4235:0.1159:0.2237	.	1337	A6NMZ7	CO6A6_HUMAN	V	1337	ENSP00000351310:A1337V;ENSP00000399236:A1337V	ENSP00000351310:A1337V	A	+	2	0	COL6A6	131788079	0.019000	0.18553	0.002000	0.10522	0.003000	0.03518	0.567000	0.23608	0.067000	0.16545	-0.157000	0.13467	GCT		PASS	0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		78	115	78	115	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138189849	138189849	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:138189849C>T	ENST00000389567.4	+	17	1907	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	574					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S574F(2)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGCCTCATCTCCATGAGGCTG	0.597																																						uc003esk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1720-1722)TCC>TTC		family with sequence similarity 62 (C2 domain							81.0	83.0	82.0					3																	138189849		1939	4146	6085	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138189849C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1721C>T	3.37:g.138189849C>T	ENSP00000374218:p.Ser574Phe					ESYT3_uc010hug.2_RNA	p.S574F	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			17	1947	+			574					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1721C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685967	0.68157	.	.	ENSG00000158220	ENST00000389567	T	0.71698	-0.59	4.93	4.93	0.64822	C2 calcium/lipid-binding domain, CaLB (1);	0.179557	0.35708	N	0.003037	T	0.75243	0.3823	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.69243	-0.5196	10	0.13853	T	0.58	-8.0086	13.5262	0.61597	0.0:1.0:0.0:0.0	.	574	A0FGR9	ESYT3_HUMAN	F	574	ENSP00000374218:S574F	ENSP00000374218:S574F	S	+	2	0	ESYT3	139672539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	2.565000	0.86533	0.561000	0.74099	TCC		PASS	0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		11	67	11	67	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155208639	155208639	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:155208639C>G	ENST00000340059.7	-	18	2289	c.2290G>C	c.(2290-2292)Gaa>Caa	p.E764Q	PLCH1_ENST00000414191.1_Missense_Mutation_p.E746Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.E746Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.E764Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.E746Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.E764Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	764	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E764Q(1)|p.E746Q(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTTCAACTTCAACAAAAGGG	0.299																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2290-2292)GAA>CAA		phospholipase C eta 1 isoform a							100.0	91.0	94.0					3																	155208639		2203	4298	6501	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155208639C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2290G>C	3.37:g.155208639C>G	ENSP00000345988:p.Glu764Gln					PLCH1_uc011boj.1_Missense_Mutation_p.E764Q|PLCH1_uc011bol.1_Missense_Mutation_p.E746Q	p.E764Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		18	2567	-			764			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2290G>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184173	0.94885	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	6.06	6.06	0.98353	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.984	T	0.80968	-0.1145	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	746;764;764	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	764;746;764;764;746;746	ENSP00000419100:E764Q;ENSP00000417502:E746Q;ENSP00000402759:E764Q;ENSP00000345988:E764Q;ENSP00000335469:E746Q;ENSP00000412977:E746Q	ENSP00000335469:E746Q	E	-	1	0	PLCH1	156691333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.711000	0.84669	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.299	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		11	39	11	39	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171377037	171377037	+	Missense_Mutation	SNP	C	C	T	rs540439098		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:171377037C>T	ENST00000351298.4	-	21	2521	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.D799N|PLD1_ENST00000356327.5_Missense_Mutation_p.D761N	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	799	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.D799N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCAATGGCATCGCCTATCTTG	0.388																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2395-2397)GAT>AAT		phospholipase D1 isoform a	Choline(DB00122)						191.0	192.0	192.0					3																	171377037		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171377037C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2395G>A	3.37:g.171377037C>T	ENSP00000342793:p.Asp799Asn					PLD1_uc003fht.2_Missense_Mutation_p.D761N|PLD1_uc003fhu.3_Missense_Mutation_p.D93N|PLD1_uc003fhv.1_Missense_Mutation_p.D124N	p.D799N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2511	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		799			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2395G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267966	0.59540	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.28454	1.61;1.61;1.61	5.66	3.84	0.44239	.	0.092711	0.64402	N	0.000001	T	0.30293	0.0760	L	0.60845	1.875	0.80722	D	1	B;B;B;B	0.29531	0.005;0.012;0.007;0.247	B;B;B;B	0.30251	0.005;0.019;0.015;0.113	T	0.04255	-1.0965	10	0.35671	T	0.21	-15.7722	12.022	0.53348	0.0:0.8544:0.0:0.1456	.	761;799;784;799	Q13393-2;Q13393-4;Q59EA4;Q13393	.;.;.;PLD1_HUMAN	N	761;799;799	ENSP00000348681:D761N;ENSP00000342793:D799N;ENSP00000340326:D799N	ENSP00000340326:D799N	D	-	1	0	PLD1	172859731	0.996000	0.38824	0.371000	0.25978	0.918000	0.54935	3.469000	0.53093	0.722000	0.32252	0.563000	0.77884	GAT		PASS	0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		24	229	24	229	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	38	5	38	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185181425	185181425	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:185181425C>A	ENST00000265026.3	+	8	1700	c.1366C>A	c.(1366-1368)Cga>Aga	p.R456R	MAP3K13_ENST00000535426.1_Silent_p.R312R|MAP3K13_ENST00000446828.1_Silent_p.R249R|MAP3K13_ENST00000424227.1_Silent_p.R456R|MAP3K13_ENST00000443863.1_Silent_p.R312R	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R456R(2)|p.R456*(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAACTGATTCGAAGGCGCAG	0.468																																						uc010hyf.2																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		large_intestine(2)|lung(2)	ovary(2)|skin(1)	3						c.(1366-1368)CGA>AGA		mitogen-activated protein kinase kinase kinase							125.0	111.0	116.0					3																	185181425		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185181425C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1366C>A	3.37:g.185181425C>A						MAP3K13_uc011brt.1_Silent_p.R249R|MAP3K13_uc011bru.1_Silent_p.R312R|MAP3K13_uc003fpi.2_Silent_p.R456R|MAP3K13_uc010hyg.2_Silent_p.R146R	p.R456R	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1632	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		456						Silent	SNP	ENST00000265026.3	37	c.1366C>A	CCDS3270.1																																																																																				PASS	0.468	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		4	103	4	103	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194379714	194379714	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:194379714C>G	ENST00000265245.5	-	7	1045	c.731G>C	c.(730-732)gGa>gCa	p.G244A		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	244	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G244A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGGAATGGCTCCGGCCAAAGC	0.463																																						uc003fui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GGA>GCA		large subunit GTPase 1							129.0	139.0	135.0					3																	194379714		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194379714C>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.731G>C	3.37:g.194379714C>G	ENSP00000265245:p.Gly244Ala						p.G244A	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	7	1046	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		244					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.731G>C	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	4.462	0.085543	0.08583	.	.	ENSG00000041802	ENST00000265245	T	0.29655	1.56	6.17	2.61	0.31194	.	0.144833	0.64402	N	0.000009	T	0.05731	0.0150	N	0.00256	-1.76	0.26730	N	0.970602	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.06625	T	0.88	.	6.0099	0.19569	0.0:0.1477:0.1381:0.7142	.	244	Q9H089	LSG1_HUMAN	A	244	ENSP00000265245:G244A	ENSP00000265245:G244A	G	-	2	0	LSG1	195861003	1.000000	0.71417	0.018000	0.16275	0.050000	0.14768	3.884000	0.56175	0.222000	0.20900	0.655000	0.94253	GGA		PASS	0.463	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		47	153	47	153	---	---	---	---
WDR53	348793	broad.mit.edu	37	3	196281625	196281625	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:196281625C>A	ENST00000332629.5	-	4	1101	c.534G>T	c.(532-534)caG>caT	p.Q178H	WDR53_ENST00000433160.1_Missense_Mutation_p.Q19H|WDR53_ENST00000429115.1_Missense_Mutation_p.Q17H	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	178								p.Q178H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTTCATCCTCCTGTAAATTTG	0.428																																						uc003fwt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(532-534)CAG>CAT		WD repeat domain 53							95.0	99.0	98.0					3																	196281625		2203	4298	6501	SO:0001583	missense	348793							g.chr3:196281625C>A	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.534G>T	3.37:g.196281625C>A	ENSP00000328079:p.Gln178His						p.Q178H	NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	4	1005	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		178					A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	c.534G>T	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973571	0.74246	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.28666	1.6;1.87;1.87	5.96	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058361	0.64402	D	0.000001	T	0.30355	0.0762	L	0.29908	0.895	0.47659	D	0.999489	D	0.64830	0.994	P	0.58013	0.831	T	0.10451	-1.0629	10	0.02654	T	1	-10.8712	11.3177	0.49401	0.0:0.8048:0.0:0.1952	.	178	Q7Z5U6	WDR53_HUMAN	H	178;17;19	ENSP00000328079:Q178H;ENSP00000396668:Q17H;ENSP00000410677:Q19H	ENSP00000328079:Q178H	Q	-	3	2	WDR53	197766022	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.820000	0.48057	1.536000	0.49237	0.655000	0.94253	CAG		PASS	0.428	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		6	187	6	187	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197592992	197592992	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:197592992C>G	ENST00000425562.2	+	17	1775	c.1775C>G	c.(1774-1776)tCc>tGc	p.S592C	LRCH3_ENST00000536618.1_Missense_Mutation_p.S187C|LRCH3_ENST00000334859.4_Missense_Mutation_p.S592C|LRCH3_ENST00000414675.2_Missense_Mutation_p.S540C|LRCH3_ENST00000441090.2_Missense_Mutation_p.S438C|LRCH3_ENST00000438796.2_Missense_Mutation_p.S592C			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	592						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S592C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTTCATCATTCCCCTGCATAT	0.368																																						uc011bul.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)TCC>TGC		leucine-rich repeats and calponin homology (CH)							107.0	110.0	109.0					3																	197592992		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197592992C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1775C>G	3.37:g.197592992C>G	ENSP00000393579:p.Ser592Cys					LRCH3_uc003fyj.1_Missense_Mutation_p.S592C|LRCH3_uc011bum.1_Missense_Mutation_p.S540C|LRCH3_uc011bun.1_Missense_Mutation_p.S438C|LRCH3_uc003fyk.2_Missense_Mutation_p.S187C	p.S592C	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	17	1780	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		592					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1775C>G		.	.	.	.	.	.	.	.	.	.	C	15.63	2.889876	0.52014	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.54071	1.82;1.24;1.74;2.09;1.86;0.59	5.36	5.36	0.76844	.	0.070231	0.64402	D	0.000015	T	0.60196	0.2250	L	0.32530	0.975	0.40035	D	0.975587	B;B;P;B;D	0.61080	0.021;0.009;0.532;0.004;0.989	B;B;B;B;P	0.58454	0.025;0.007;0.43;0.006;0.839	T	0.62205	-0.6903	10	0.51188	T	0.08	-4.7786	18.7647	0.91868	0.0:1.0:0.0:0.0	.	438;540;592;592;592	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	C	592;438;540;592;592;187	ENSP00000399751:S592C;ENSP00000394609:S438C;ENSP00000394965:S540C;ENSP00000334375:S592C;ENSP00000393579:S592C;ENSP00000439083:S187C	ENSP00000334375:S592C	S	+	2	0	LRCH3	199077389	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.005000	0.40864	2.522000	0.85027	0.555000	0.69702	TCC		PASS	0.368	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		25	50	25	50	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3208226	3208226	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:3208226C>G	ENST00000355072.5	+	43	5867	c.5722C>G	c.(5722-5724)Cag>Gag	p.Q1908E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1908					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.Q1908E(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCTTAGTGTCAGAACCTCCA	0.423																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(5728-5730)CAG>GAG		huntingtin							81.0	77.0	78.0					4																	3208226		1928	4149	6077	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3208226C>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5722C>G	4.37:g.3208226C>G	ENSP00000347184:p.Gln1908Glu						p.Q1910E	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	44	5873	+		all_epithelial(65;0.18)	1908					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5728C>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079159	0.76528	.	.	ENSG00000197386	ENST00000355072	T	0.04502	3.61	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	L	0.49699	1.58	0.80722	D	1	D	0.56287	0.975	D	0.67103	0.949	T	0.02161	-1.1203	10	0.24483	T	0.36	.	19.6451	0.95773	0.0:1.0:0.0:0.0	.	1908	P42858	HD_HUMAN	E	1908	ENSP00000347184:Q1908E	ENSP00000347184:Q1908E	Q	+	1	0	HTT	3178024	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.715000	0.84713	2.720000	0.93068	0.655000	0.94253	CAG		PASS	0.423	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		13	63	13	63	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6043916	6043916	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:6043916G>A	ENST00000409021.3	-	17	2516	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	JAKMIP1_ENST00000409371.3_Silent_p.T504T	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	31					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.T689T(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCATCTTCTGGGTCAGGGCGG	0.557																																						uc010idb.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(2065-2067)ACC>ACT		janus kinase and microtubule interacting protein							88.0	92.0	91.0					4																	6043916		1931	4132	6063	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6043916G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2067C>T	4.37:g.6043916G>A						JAKMIP1_uc010idc.1_Silent_p.T504T|JAKMIP1_uc010idd.1_Intron	p.T689T	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN			17	2553	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2067C>T	CCDS47005.1																																																																																				PASS	0.557	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		28	38	28	38	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13601318	13601318	+	Silent	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:13601318C>G	ENST00000040738.5	-	10	7341	c.7206G>C	c.(7204-7206)gtG>gtC	p.V2402V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2402						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V2402V(1)									CCTCGGTGCTCACTGCCAACA	0.587																																						uc003gmz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(7204-7206)GTG>GTC		biorientation of chromosomes in cell division							140.0	136.0	137.0					4																	13601318		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601318C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7206G>C	4.37:g.13601318C>G						BOD1L_uc010idr.1_Silent_p.V1739V	p.V2402V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7323	-			2402					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7206G>C	CCDS3411.2																																																																																				PASS	0.587	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	120	5	120	---	---	---	---
LAP3	51056	broad.mit.edu	37	4	17590574	17590574	+	Silent	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:17590574T>C	ENST00000226299.4	+	7	1111	c.837T>C	c.(835-837)ttT>ttC	p.F279F	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.F248F	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	279					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.F279F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CCCTGGTGTTTGTTGGGAAAG	0.433																																						uc003gph.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(835-837)TTT>TTC		leucine aminopeptidase 3							102.0	101.0	101.0					4																	17590574		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17590574T>C	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.837T>C	4.37:g.17590574T>C							p.F279F	NM_015907	NP_056991	P28838	AMPL_HUMAN			7	999	+			279					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.837T>C	CCDS3422.1																																																																																				PASS	0.433	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			27	40	27	40	---	---	---	---
TBC1D19	55296	broad.mit.edu	37	4	26667970	26667970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:26667970G>T	ENST00000264866.4	+	9	885	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.E138*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	203							Rab GTPase activator activity (GO:0005097)	p.E203*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ATGCTTTGTGGAACTTGGCTT	0.343																																						uc003gsf.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(607-609)GAA>TAA		TBC1 domain family, member 19							158.0	163.0	161.0					4																	26667970		2203	4300	6503	SO:0001587	stop_gained	55296					intracellular	Rab GTPase activator activity	g.chr4:26667970G>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.607G>T	4.37:g.26667970G>T	ENSP00000264866:p.Glu203*					TBC1D19_uc010iew.2_Nonsense_Mutation_p.E203*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.E138*	p.E203*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			9	877	+		Breast(46;0.0503)	203					B9A6M0|Q9NUX1	Nonsense_Mutation	SNP	ENST00000264866.4	37	c.607G>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346327	0.82022	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.5717	20.0096	0.97446	0.0:0.0:1.0:0.0	.	.	.	.	X	172;203;138;138	.	ENSP00000264866:E203X	E	+	1	0	TBC1D19	26277068	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.472000	0.80996	2.727000	0.93392	0.579000	0.79373	GAA		PASS	0.343	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		12	54	12	54	---	---	---	---
GNPDA2	132789	broad.mit.edu	37	4	44705119	44705119	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:44705119G>A	ENST00000295448.3	-	7	966	c.810C>T	c.(808-810)ttC>ttT	p.F270F	GNPDA2_ENST00000507534.1_Silent_p.F200F|RP11-700J17.2_ENST00000610267.1_RNA|GNPDA2_ENST00000507917.1_Silent_p.F236F	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	270					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.F270F(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CTTTCATACTGAATAGTGGAT	0.323																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(808-810)TTC>TTT		glucosamine-6-phosphate deaminase 2							113.0	110.0	111.0					4																	44705119		2202	4299	6501	SO:0001819	synonymous_variant	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44705119G>A	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.810C>T	4.37:g.44705119G>A						GNPDA2_uc010iga.2_Silent_p.F236F|GNPDA2_uc011bzb.1_Silent_p.F200F	p.F270F	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			7	967	-			270					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Silent	SNP	ENST00000295448.3	37	c.810C>T	CCDS3469.1																																																																																				PASS	0.323	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		10	32	10	32	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56316315	56316315	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:56316315A>C	ENST00000309964.4	-	15	1541	c.1291T>G	c.(1291-1293)Tct>Gct	p.S431A	CLOCK_ENST00000513440.1_Missense_Mutation_p.S431A|CLOCK_ENST00000381322.1_Missense_Mutation_p.S431A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	431	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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)|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)|signal transducer activity (GO:0004871)	p.S431A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GAAGAGGCAGAAGGGGTTGGG	0.458																																						uc003haz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1291-1293)TCT>GCT		clock							145.0	145.0	145.0					4																	56316315		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56316315A>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1291T>G	4.37:g.56316315A>C	ENSP00000308741:p.Ser431Ala					CLOCK_uc003hba.1_Missense_Mutation_p.S431A|CLOCK_uc010igu.1_5'Flank	p.S431A	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		17	2217	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		431					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1291T>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660632	0.88154	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05855	3.38;3.38;3.38	5.8	5.8	0.92144	.	0.109712	0.64402	D	0.000004	T	0.27798	0.0684	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01121	-1.1445	10	0.49607	T	0.09	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	431	O15516	CLOCK_HUMAN	A	431	ENSP00000308741:S431A;ENSP00000370723:S431A;ENSP00000426983:S431A	ENSP00000308741:S431A	S	-	1	0	CLOCK	56011072	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.725000	0.91468	2.212000	0.71576	0.528000	0.53228	TCT		PASS	0.458	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		25	52	25	52	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797217	57797217	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:57797217G>T	ENST00000309042.7	+	4	2507	c.2193G>T	c.(2191-2193)atG>atT	p.M731I		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	731	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M731I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTTCAGATGGAGCTGTCTC	0.562																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2191-2193)ATG>ATT		RE1-silencing transcription factor							205.0	212.0	210.0					4																	57797217		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797217G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2193G>T	4.37:g.57797217G>T	ENSP00000311816:p.Met731Ile					REST_uc003hci.2_Missense_Mutation_p.M731I|REST_uc010ihf.2_Missense_Mutation_p.M405I	p.M731I	NM_005612	NP_005603	Q13127	REST_HUMAN			4	2540	+	Glioma(25;0.08)|all_neural(26;0.181)		731			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2193G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	5.451	0.268258	0.10349	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08458	3.09	3.04	0.396	0.16309	.	1.364250	0.05311	N	0.524779	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.41963	-0.9479	10	0.38643	T	0.18	1.077	5.4404	0.16504	0.3852:0.0:0.6148:0.0	.	708;731	F8WAN5;Q13127	.;REST_HUMAN	I	731;708	ENSP00000311816:M731I	ENSP00000311816:M731I	M	+	3	0	REST	57491974	0.078000	0.21339	0.076000	0.20297	0.360000	0.29518	0.487000	0.22356	0.036000	0.15547	-0.263000	0.10527	ATG		PASS	0.562	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		8	326	8	326	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66270172	66270172	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:66270172G>T	ENST00000273854.3	-	8	2310	c.1710C>A	c.(1708-1710)agC>agA	p.S570R	EPHA5_ENST00000354839.4_Missense_Mutation_p.S570R|EPHA5_ENST00000432638.2_Missense_Mutation_p.S407R|EPHA5_ENST00000511294.1_Missense_Mutation_p.S571R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	570					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.S570R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGGAATCTGGCTTTGATCGC	0.438										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1708-1710)AGC>AGA		ephrin receptor EphA5 isoform a precursor							125.0	104.0	111.0					4																	66270172		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270172G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1710C>A	4.37:g.66270172G>T	ENSP00000273854:p.Ser570Arg	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.S502R|EPHA5_uc003hcz.2_Missense_Mutation_p.S570R|EPHA5_uc011cah.1_Missense_Mutation_p.S571R|EPHA5_uc011cai.1_Missense_Mutation_p.S571R|EPHA5_uc003hda.2_Missense_Mutation_p.S571R	p.S570R	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1903	-			570			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1710C>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837174	0.32513	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.73897	-0.74;-0.79;-0.72;-0.74	5.05	4.2	0.49525	.	0.000000	0.64402	D	0.000001	T	0.55146	0.1902	N	0.08118	0	0.41598	D	0.988837	B;B;B;B	0.25743	0.002;0.133;0.004;0.018	B;B;B;B	0.28465	0.013;0.09;0.019;0.004	T	0.50882	-0.8775	10	0.21540	T	0.41	.	13.7361	0.62817	0.0751:0.0:0.9249:0.0	.	571;571;570;570	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	R	570;407;570;571	ENSP00000273854:S570R;ENSP00000389208:S407R;ENSP00000346899:S570R;ENSP00000427638:S571R	ENSP00000273854:S570R	S	-	3	2	EPHA5	65952767	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.320000	0.72876	1.266000	0.44231	0.650000	0.86243	AGC		PASS	0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		25	32	25	32	---	---	---	---
ALB	213	broad.mit.edu	37	4	74279238	74279238	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:74279238C>T	ENST00000503124.1	+	6	702	c.495C>T	c.(493-495)gcC>gcT	p.A165A	ALB_ENST00000401494.3_Silent_p.A200A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.A123A|ALB_ENST00000509063.1_Silent_p.A315A|ALB_ENST00000295897.4_Silent_p.A315A			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.A315A(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGCATTGCCGAAGTGGAAA	0.418																																						uc003hgs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(943-945)GCC>GCT		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						143.0	135.0	138.0					4																	74279238		2203	4300	6503	SO:0001819	synonymous_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279238C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.495C>T	4.37:g.74279238C>T						ALB_uc003hgw.3_Silent_p.A123A|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.A315A|ALB_uc010iii.2_Silent_p.A200A|ALB_uc003hgu.3_Silent_p.A165A|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.A205A|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	p.A315A	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1018	+	Breast(15;0.00102)		315			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37	c.945C>T		.	.	.	.	.	.	.	.	.	.	C	5.062	0.197177	0.09599	.	.	ENSG00000163631	ENST00000511370	.	.	.	5.98	-6.99	0.01605	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8203	1.8642	0.03195	0.197:0.3346:0.2781:0.1903	.	.	.	.	X	160	.	.	R	+	1	2	ALB	74498102	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.577000	0.02127	-1.066000	0.03164	-0.312000	0.09012	CGA		PASS	0.418	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		4	105	4	105	---	---	---	---
TSPAN5	10098	broad.mit.edu	37	4	99408000	99408000	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:99408000G>T	ENST00000305798.3	-	3	570	c.168C>A	c.(166-168)ctC>ctA	p.L56L	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	56					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.L56L(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CAAAGCCGCCGAGATCGGTGA	0.512																																						uc003hub.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CTC>CTA		transmembrane 4 superfamily member 9							142.0	139.0	140.0					4																	99408000		2203	4300	6503	SO:0001819	synonymous_variant	10098					integral to membrane		g.chr4:99408000G>T		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.168C>A	4.37:g.99408000G>T						TSPAN5_uc011cdz.1_5'UTR	p.L56L	NM_005723	NP_005714	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	3	518	-			56			Extracellular (Potential).		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Silent	SNP	ENST00000305798.3	37	c.168C>A	CCDS3646.1																																																																																				PASS	0.512	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		5	129	5	129	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104640772	104640772	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:104640772C>A	ENST00000304883.2	-	1	201	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	21					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.A21S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGTTCACGGCGTCTGCACCC	0.677																																						uc003hxe.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(61-63)GCC>TCC		tachykinin receptor 3							36.0	42.0	40.0					4																	104640772		2203	4298	6501	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640772C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.61G>T	4.37:g.104640772C>A	ENSP00000303325:p.Ala21Ser						p.A21S	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	204	-		Hepatocellular(203;0.217)	21			Extracellular (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.61G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	1.702	-0.501224	0.04261	.	.	ENSG00000169836	ENST00000304883	T	0.64260	-0.09	3.79	-7.57	0.01318	.	2.240520	0.02698	N	0.111459	T	0.24624	0.0597	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.08837	T	0.75	.	1.409	0.02287	0.4717:0.1392:0.1099:0.2792	.	21	P29371	NK3R_HUMAN	S	21	ENSP00000303325:A21S	ENSP00000303325:A21S	A	-	1	0	TACR3	104860221	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-2.894000	0.00707	-1.946000	0.01035	0.313000	0.20887	GCC		PASS	0.677	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	18	7	18	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114257120	114257120	+	Silent	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:114257120A>T	ENST00000357077.4	+	30	3551	c.3498A>T	c.(3496-3498)ccA>ccT	p.P1166P	ANK2_ENST00000509550.1_Silent_p.P342P|ANK2_ENST00000394537.3_Silent_p.P1166P|ANK2_ENST00000264366.6_Silent_p.P1133P|ANK2_ENST00000506722.1_Silent_p.P1157P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1166	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)	p.P1166P(1)		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)		TGATTGGCCCAGAAGGAGGTG	0.567																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3496-3498)CCA>CCT		ankyrin 2 isoform 1							113.0	108.0	110.0					4																	114257120		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.chr4:114257120A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3498A>T	4.37:g.114257120A>T						ANK2_uc003ibd.3_Silent_p.P1157P|ANK2_uc003ibf.3_Silent_p.P1166P|ANK2_uc011cgc.1_Silent_p.P342P|ANK2_uc003ibg.3_Silent_p.P161P|ANK2_uc003ibc.2_Silent_p.P1142P|ANK2_uc011cgb.1_Silent_p.P1181P	p.P1166P	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3598	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1133					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3498A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	9.351	1.065440	0.20067	.	.	ENSG00000145362	ENST00000514960	.	.	.	4.97	-9.94	0.00449	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4027	0.07330	0.0928:0.2962:0.3119:0.2991	.	.	.	.	X	179	.	.	R	+	1	2	ANK2	114476569	0.000000	0.05858	0.338000	0.25549	0.983000	0.72400	-3.431000	0.00473	-3.060000	0.00257	-0.408000	0.06270	AGA		PASS	0.567	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	48	28	48	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121828652	121828652	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:121828652T>C	ENST00000264808.3	-	2	394	c.154A>G	c.(154-156)Atg>Gtg	p.M52V	PRDM5_ENST00000394435.2_Missense_Mutation_p.M52V|PRDM5_ENST00000515109.1_Missense_Mutation_p.M52V|PRDM5_ENST00000428209.2_Missense_Mutation_p.M52V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	52	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.M52V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTAATCCATATTTTCATCC	0.333																																						uc003idn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(154-156)ATG>GTG		PR domain containing 5							155.0	153.0	154.0					4																	121828652		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121828652T>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.154A>G	4.37:g.121828652T>C	ENSP00000264808:p.Met52Val					PRDM5_uc003ido.2_Missense_Mutation_p.M52V|PRDM5_uc010ine.2_Missense_Mutation_p.M52V|PRDM5_uc010inf.2_Missense_Mutation_p.M52V|PRDM5_uc003idp.1_Missense_Mutation_p.M52V	p.M52V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			2	404	-			52			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.154A>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479205	0.26511	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.81	3.42	0.39159	SET domain (2);	0.398412	0.30940	N	0.008576	T	0.32526	0.0832	N	0.03608	-0.345	0.24255	N	0.995303	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.16512	-1.0400	10	0.11485	T	0.65	-20.0171	9.099	0.36656	0.0:0.1514:0.0:0.8486	.	52;52;52;52	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	V	52	ENSP00000264808:M52V;ENSP00000422309:M52V;ENSP00000404832:M52V;ENSP00000377955:M52V	ENSP00000264808:M52V	M	-	1	0	PRDM5	122048102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.405000	0.44548	1.020000	0.39573	0.533000	0.62120	ATG		PASS	0.333	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			24	50	24	50	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123156042	123156042	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:123156042C>G	ENST00000264501.4	+	27	3811	c.3438C>G	c.(3436-3438)ttC>ttG	p.F1146L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.F1146L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.F1146L			Q2LD37	K1109_HUMAN	KIAA1109	1146					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F1146L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGATTTCTTCAAACTTGAAG	0.443																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3436-3438)TTC>TTG		fragile site-associated protein							133.0	130.0	131.0					4																	123156042		1886	4114	6000	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123156042C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3438C>G	4.37:g.123156042C>G	ENSP00000264501:p.Phe1146Leu					KIAA1109_uc003iei.1_Missense_Mutation_p.F899L|KIAA1109_uc010ins.1_Missense_Mutation_p.F489L	p.F1146L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			25	3483	+			1146					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3438C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.209019|4.209019	0.79240|0.79240	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.27256|.	2.27;2.27;1.68|.	5.28|5.28	3.52|3.52	0.40303|0.40303	.|.	0.342649|.	0.26328|.	N|.	0.025019|.	T|T	0.55162|0.55162	0.1903|0.1903	L|L	0.41710|0.41710	1.295|1.295	0.43745|0.43745	D|D	0.996243|0.996243	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.50759|0.50759	-0.8790|-0.8790	10|5	0.62326|.	D|.	0.03|.	.|.	11.5068|11.5068	0.50471|0.50471	0.0:0.8527:0.0:0.1473|0.0:0.8527:0.0:0.1473	.|.	1146|.	Q2LD37|.	K1109_HUMAN|.	L|E	1146|978	ENSP00000264501:F1146L;ENSP00000373390:F1146L;ENSP00000389925:F1146L|.	ENSP00000264501:F1146L|.	F|Q	+|+	3|1	2|0	KIAA1109|KIAA1109	123375492|123375492	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.980000|0.980000	0.70556|0.70556	4.450000|4.450000	0.60041|0.60041	1.203000|1.203000	0.43233|0.43233	0.563000|0.563000	0.77884|0.77884	TTC|CAA		PASS	0.443	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		8	66	8	66	---	---	---	---
JADE1	79960	broad.mit.edu	37	4	129767537	129767537	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:129767537G>T	ENST00000226319.6	+	4	426	c.146G>T	c.(145-147)aGg>aTg	p.R49M	PHF17_ENST00000413543.2_Missense_Mutation_p.R49M|PHF17_ENST00000512960.1_Missense_Mutation_p.R49M|PHF17_ENST00000452328.2_Missense_Mutation_p.R49M|PHF17_ENST00000511647.1_Missense_Mutation_p.R49M	NM_199320.2	NP_955352.1												p.R49M(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGGTGTTTAGGACAGACCTG	0.468																																						uc003igk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)AGG>ATG		PHD finger protein 17 long isoform							180.0	167.0	171.0					4																	129767537		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129767537G>T																												ENST00000226319.6:c.146G>T	4.37:g.129767537G>T	ENSP00000226319:p.Arg49Met					PHF17_uc003igj.2_Missense_Mutation_p.R49M|PHF17_uc003igl.2_Missense_Mutation_p.R49M|PHF17_uc011cgy.1_Missense_Mutation_p.R49M|PHF17_uc003igm.2_Missense_Mutation_p.R49M	p.R49M	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			4	426	+			49						Missense_Mutation	SNP	ENST00000226319.6	37	c.146G>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616609	0.87359	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.68	4.68	0.58851	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.76761	-0.2840	9	.	.	.	.	17.807	0.88604	0.0:0.0:1.0:0.0	.	49;49;49	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	M	49	ENSP00000226319:R49M;ENSP00000423737:R49M;ENSP00000388015:R49M;ENSP00000426590:R49M;ENSP00000425730:R49M;ENSP00000422445:R49M;ENSP00000421265:R49M;ENSP00000404211:R49M;ENSP00000424280:R49M;ENSP00000425535:R49M	.	R	+	2	0	PHF17	129986987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.901000	0.92560	2.423000	0.82170	0.561000	0.74099	AGG		PASS	0.468	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			6	113	6	113	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141592024	141592024	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:141592024G>C	ENST00000442267.2	-	7	1190	c.1116C>G	c.(1114-1116)atC>atG	p.I372M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	372							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.I372M(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTCGGGTGCTGATGGATAAGG	0.433																																						uc010ioj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1114-1116)ATC>ATG		TBC1 domain family, member 9 (with GRAM domain)							163.0	164.0	164.0					4																	141592024		1942	4166	6108	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141592024G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1116C>G	4.37:g.141592024G>C	ENSP00000411197:p.Ile372Met						p.I372M	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			7	1388	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	372					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1116C>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886414	0.72410	.	.	ENSG00000109436	ENST00000442267	T	0.15718	2.4	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.46484	-0.9188	10	0.87932	D	0	-10.9321	12.9504	0.58397	0.0741:0.0:0.9259:0.0	.	372	Q6ZT07	TBCD9_HUMAN	M	372	ENSP00000411197:I372M	ENSP00000411197:I372M	I	-	3	3	TBC1D9	141811474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.586000	0.67503	2.701000	0.92244	0.650000	0.86243	ATC		PASS	0.433	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		27	125	27	125	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153893693	153893693	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:153893693G>T	ENST00000511601.1	+	11	1571	c.1383G>T	c.(1381-1383)aaG>aaT	p.K461N	FHDC1_ENST00000260008.3_Splice_Site_p.K461N			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	461	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.K461N(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGCAGTTAAGGTACATCTGG	0.383																																						uc003inf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1381-1383)AAG>AAT		FH2 domain containing 1							109.0	112.0	111.0					4																	153893693		2203	4300	6503	SO:0001630	splice_region_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893693G>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1383+1G>T	4.37:g.153893693G>T							p.K461N	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	1458	+	all_hematologic(180;0.093)		461			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.1383G>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406115	0.62288	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.63417	-0.04;-0.04	5.42	5.42	0.78866	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.277370	0.40385	N	0.001120	T	0.80502	0.4635	M	0.83312	2.635	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.82376	-0.0488	10	0.56958	D	0.05	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	461	Q9C0D6	FHDC1_HUMAN	N	461	ENSP00000427567:K461N;ENSP00000260008:K461N	ENSP00000260008:K461N	K	+	3	2	FHDC1	154113143	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.476000	0.97823	2.546000	0.85860	0.650000	0.86243	AAG		PASS	0.383	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	Missense_Mutation	6	100	6	100	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160267955	160267955	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:160267955G>T	ENST00000264431.4	+	19	3453	c.3034G>T	c.(3034-3036)Ggt>Tgt	p.G1012C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1012					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.G1000C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TAAGAATCCTGGTGACAAAAA	0.458																																						uc003iqg.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3034-3036)GGT>TGT		Rap guanine nucleotide exchange factor 2							98.0	105.0	103.0					4																	160267955		1911	4139	6050	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160267955G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3034G>T	4.37:g.160267955G>T	ENSP00000264431:p.Gly1012Cys						p.G1012C	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	19	3344	+	all_hematologic(180;0.24)		1012					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3034G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.437487|2.437487	0.43224|0.43224	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.29655|.	1.56|.	6.17|6.17	5.34|5.34	0.76211|0.76211	Ras guanine nucleotide exchange factor, domain (1);|.	0.239866|.	0.48767|.	D|.	0.000161|.	T|T	0.51058|0.51058	0.1652|0.1652	L|L	0.31294|0.31294	0.92|0.92	0.45227|0.45227	D|D	0.998231|0.998231	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.47873|0.47873	-0.9083|-0.9083	10|5	0.54805|.	T|.	0.06|.	.|.	10.4003|10.4003	0.44225|0.44225	0.0666:0.0:0.7996:0.1337|0.0666:0.0:0.7996:0.1337	.|.	1012|.	Q9Y4G8|.	RPGF2_HUMAN|.	C|L	1012|117	ENSP00000264431:G1012C|.	ENSP00000264431:G1012C|.	G|W	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160487405|160487405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.425000|4.425000	0.59875|0.59875	1.634000|1.634000	0.50500|0.50500	0.655000|0.655000	0.94253|0.94253	GGT|TGG		PASS	0.458	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		6	162	6	162	---	---	---	---
NEK1	4750	broad.mit.edu	37	4	170428227	170428227	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:170428227C>A	ENST00000439128.2	-	21	2524	c.1884G>T	c.(1882-1884)aaG>aaT	p.K628N	NEK1_ENST00000510533.1_Missense_Mutation_p.K584N|NEK1_ENST00000511633.1_Missense_Mutation_p.K612N|NEK1_ENST00000512193.1_Missense_Mutation_p.K559N|NEK1_ENST00000507142.1_Missense_Mutation_p.K656N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	628					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.K656N(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATAAGCCTCCTTTCTCTTTC	0.358																																						uc003isb.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|large_intestine(1)	6						c.(1882-1884)AAG>AAT		NIMA-related kinase 1							151.0	135.0	140.0					4																	170428227		1826	4074	5900	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428227C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1884G>T	4.37:g.170428227C>A	ENSP00000408020:p.Lys628Asn					NEK1_uc003isc.1_Missense_Mutation_p.K584N|NEK1_uc003isd.1_Missense_Mutation_p.K656N|NEK1_uc003ise.1_Missense_Mutation_p.K612N|NEK1_uc003isf.1_Missense_Mutation_p.K559N	p.K628N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	21	2376	-		Prostate(90;0.00601)|Renal(120;0.0183)	628					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1884G>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500802	0.44455	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.71341	-0.52;-0.53;-0.52;-0.54;-0.56	4.7	2.97	0.34412	.	0.091052	0.47455	D	0.000231	T	0.72358	0.3450	L	0.54323	1.7	0.36503	D	0.86909	P;P;D;D;P	0.56035	0.953;0.944;0.974;0.973;0.922	P;P;P;P;P	0.55713	0.782;0.557;0.782;0.56;0.611	T	0.74819	-0.3535	10	0.49607	T	0.09	.	7.6327	0.28249	0.0:0.7417:0.0:0.2583	.	559;612;656;584;628	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	N	628;612;584;656;559	ENSP00000408020:K628N;ENSP00000423332:K612N;ENSP00000427653:K584N;ENSP00000424757:K656N;ENSP00000424938:K559N	ENSP00000408020:K628N	K	-	3	2	NEK1	170664802	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	1.623000	0.37008	0.690000	0.31570	-0.158000	0.13435	AAG		PASS	0.358	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			16	18	16	18	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183245358	183245358	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr4:183245358G>A	ENST00000511685.1	+	2	308	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM3_ENST00000406950.2_Missense_Mutation_p.R62K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	62	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R62K(1)									TACGGCAACAGAGTGAAGGAT	0.473																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)AGA>AAA		odz, odd Oz/ten-m homolog 3							109.0	109.0	109.0					4																	183245358		1953	4143	6096	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183245358G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.185G>A	4.37:g.183245358G>A	ENSP00000424226:p.Arg62Lys					ODZ3_uc010irv.1_Missense_Mutation_p.R62K	p.R62K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	1	222	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	62			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.185G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661740	0.67700	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.40756	1.02;1.02;1.02	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.48768	0.1518	L	0.56769	1.78	0.30374	N	0.782625	B;B	0.31968	0.349;0.258	B;B	0.36378	0.223;0.135	T	0.52852	-0.8520	9	0.59425	D	0.04	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	62;62	D6RGC5;Q9P273	.;TEN3_HUMAN	K	62	ENSP00000421320:R62K;ENSP00000424226:R62K;ENSP00000385276:R62K	ENSP00000385276:R62K	R	+	2	0	ODZ3	183482352	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.409000	0.80053	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	73	4	73	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	837482	837482	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:837482G>T	ENST00000283441.8	-	6	1281	c.898C>A	c.(898-900)Cag>Aag	p.Q300K	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.Q300K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	300						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q300K(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTGGTACCTGGAGAACTCCT	0.483																																						uc011cma.1																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(898-900)CAG>AAG		zinc finger, DHHC-type containing 11							303.0	279.0	287.0					5																	837482		2203	4300	6503	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837482G>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.898C>A	5.37:g.837482G>T	ENSP00000283441:p.Gln300Lys					ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	p.Q300K	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1282	-			300					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.898C>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	10.16	1.274893	0.23307	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.26957	1.7;1.7	1.39	1.39	0.22231	.	2.317120	0.03551	U	0.225562	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.50270	0.636	T	0.32188	-0.9916	10	0.06099	T	0.92	-18.567	6.3416	0.21327	0.0:0.0:1.0:0.0	.	300	Q9H8X9	ZDH11_HUMAN	K	300	ENSP00000397719:Q300K;ENSP00000283441:Q300K	ENSP00000283441:Q300K	Q	-	1	0	ZDHHC11	890482	0.473000	0.25878	0.092000	0.20876	0.028000	0.11728	0.879000	0.28146	1.115000	0.41800	0.121000	0.15741	CAG		PASS	0.483	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		6	134	6	134	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078737	22078737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:22078737C>A	ENST00000382254.1	-	5	1135	c.49G>T	c.(49-51)Gga>Tga	p.G17*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.G17*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.G17*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	17					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)	p.G17*(1)		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						AGGAGACCTCCATCAAACAGA	0.453										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(49-51)GGA>TGA		cadherin 12, type 2 preproprotein							172.0	174.0	174.0					5																	22078737		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078737C>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.49G>T	5.37:g.22078737C>A	ENSP00000371689:p.Gly17*	HNSCC(59;0.17)				CDH12_uc011cno.1_Nonsense_Mutation_p.G17*|CDH12_uc003jgk.2_Nonsense_Mutation_p.G17*	p.G17*	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	507	-			17					B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.49G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	39	7.492808	0.98319	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.67	5.67	0.87782	.	0.334410	0.32608	N	0.005870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7756	0.96391	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000371689:G17X	G	-	1	0	CDH12	22114494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.061000	0.49963	2.694000	0.91930	0.555000	0.69702	GGA		PASS	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	145	6	145	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983569	31983569	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:31983569A>G	ENST00000438447.1	+	3	1173	c.785A>G	c.(784-786)cAt>cGt	p.H262R	PDZD2_ENST00000282493.3_Missense_Mutation_p.H262R			O15018	PDZD2_HUMAN	PDZ domain containing 2	262					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.H262R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAACGGCCATGTCTTTCAG	0.557																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(784-786)CAT>CGT		PDZ domain containing 2							65.0	67.0	66.0					5																	31983569		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983569A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.785A>G	5.37:g.31983569A>G	ENSP00000402033:p.His262Arg					PDZD2_uc003jhm.2_Missense_Mutation_p.H262R|PDZD2_uc011cnx.1_Missense_Mutation_p.H88R	p.H262R	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	1173	+			262					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.785A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546529	0.27652	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09445	2.98;2.98	4.19	4.19	0.49359	.	0.283498	0.25628	N	0.029371	T	0.08179	0.0204	L	0.29908	0.895	0.20563	N	0.99989	B;P	0.39282	0.031;0.666	B;B	0.37508	0.004;0.252	T	0.26643	-1.0097	10	0.33940	T	0.23	.	9.9386	0.41567	1.0:0.0:0.0:0.0	.	88;262	B4E3P2;O15018	.;PDZD2_HUMAN	R	262	ENSP00000402033:H262R;ENSP00000282493:H262R	ENSP00000282493:H262R	H	+	2	0	PDZD2	32019326	0.982000	0.34865	0.178000	0.23040	0.253000	0.25986	0.074000	0.14662	2.118000	0.64928	0.528000	0.53228	CAT		PASS	0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			37	52	37	52	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32088214	32088214	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:32088214G>A	ENST00000438447.1	+	20	5048	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1554N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1554					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.D1554N(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGTATGGCGATGCTGAGGA	0.542																																						uc003jhl.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4660-4662)GAT>AAT		PDZ domain containing 2							70.0	68.0	68.0					5																	32088214		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088214G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4660G>A	5.37:g.32088214G>A	ENSP00000402033:p.Asp1554Asn					PDZD2_uc003jhm.2_Missense_Mutation_p.D1554N	p.D1554N	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5048	+			1554					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4660G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.646992	0.14516	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.34275	1.37;1.37	5.36	3.56	0.40772	.	0.232546	0.30428	N	0.009652	T	0.24084	0.0583	L	0.45581	1.43	0.09310	N	1	B	0.28850	0.225	B	0.17722	0.019	T	0.20042	-1.0287	10	0.10902	T	0.67	.	7.7685	0.28993	0.2593:0.0:0.7407:0.0	.	1554	O15018	PDZD2_HUMAN	N	1554;1355;1554	ENSP00000402033:D1554N;ENSP00000282493:D1554N	ENSP00000282493:D1554N	D	+	1	0	PDZD2	32123971	0.994000	0.37717	0.011000	0.14972	0.101000	0.19017	3.258000	0.51507	0.632000	0.30432	-0.136000	0.14681	GAT		PASS	0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			20	50	20	50	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35955849	35955849	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:35955849A>T	ENST00000274278.3	-	6	1550	c.1193T>A	c.(1192-1194)aTg>aAg	p.M398K	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.M364K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.M398K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	398						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.M398K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTCGGACCATGTTTCCATG	0.478																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1192-1194)ATG>AAG		UDP glycosyltransferase 3 family, polypeptide A1							227.0	203.0	211.0					5																	35955849		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955849A>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1193T>A	5.37:g.35955849A>T	ENSP00000274278:p.Met398Lys					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.M398K|UGT3A1_uc011cor.1_Missense_Mutation_p.M364K	p.M398K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1350	-	all_lung(31;0.000197)		398			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1193T>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	17.15	3.317348	0.60524	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.59224	0.28;0.28;0.28	3.97	3.97	0.46021	.	0.441498	0.20753	U	0.086319	T	0.56645	0.1999	L	0.45228	1.405	0.37408	D	0.913127	P;P;B	0.48407	0.91;0.773;0.429	P;P;B	0.51657	0.676;0.53;0.425	T	0.64118	-0.6482	10	0.87932	D	0	.	7.2272	0.26022	0.8938:0.0:0.1062:0.0	.	364;398;398	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	K	398;398;364	ENSP00000274278:M398K;ENSP00000427079:M398K;ENSP00000426100:M364K	ENSP00000274278:M398K	M	-	2	0	UGT3A1	35991606	0.721000	0.28007	0.005000	0.12908	0.866000	0.49608	6.093000	0.71422	1.561000	0.49584	0.383000	0.25322	ATG		PASS	0.478	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		38	59	38	59	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37350302	37350302	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:37350302G>A	ENST00000231498.3	-	7	992	c.789C>T	c.(787-789)ttC>ttT	p.F263F	NUP155_ENST00000381843.2_Silent_p.F204F|NUP155_ENST00000513532.1_Silent_p.F263F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	263					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.F263F(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAACAAGGAAAGAAAGTG	0.358																																						uc003jku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(787-789)TTC>TTT		nucleoporin 155kDa isoform 1							163.0	161.0	162.0					5																	37350302		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37350302G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.789C>T	5.37:g.37350302G>A						NUP155_uc003jkt.1_Silent_p.F204F|NUP155_uc010iuz.1_Silent_p.F263F	p.F263F	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	907	-	all_lung(31;0.000137)		263					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.789C>T	CCDS3921.1																																																																																				PASS	0.358	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		10	73	10	73	---	---	---	---
C9	735	broad.mit.edu	37	5	39316013	39316013	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:39316013G>T	ENST00000263408.4	-	6	829	c.734C>A	c.(733-735)cCc>cAc	p.P245H	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	245	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.P245H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTTTCAGTGGGTGTAAATTT	0.333																																						uc003jlv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CCC>CAC		complement component 9 precursor							117.0	116.0	116.0					5																	39316013		2203	4299	6502	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39316013G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.734C>A	5.37:g.39316013G>T	ENSP00000263408:p.Pro245His						p.P245H	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		6	823	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	245			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.734C>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689855	0.48097	.	.	ENSG00000113600	ENST00000263408	T	0.31510	1.49	5.56	2.61	0.31194	Membrane attack complex component/perforin (MACPF) domain (1);	5.913700	0.00465	N	0.000102	T	0.39733	0.1089	N	0.22421	0.69	0.09310	N	0.999992	D	0.76494	0.999	P	0.60173	0.87	T	0.29761	-1.0001	10	0.59425	D	0.04	-4.8456	7.7105	0.28675	0.1448:0.0:0.7233:0.1319	.	245	P02748	CO9_HUMAN	H	245	ENSP00000263408:P245H	ENSP00000263408:P245H	P	-	2	0	C9	39351770	0.223000	0.23663	0.003000	0.11579	0.449000	0.32228	0.919000	0.28692	0.809000	0.34255	0.655000	0.94253	CCC		PASS	0.333	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			5	64	5	64	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262343	45262343	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:45262343G>T	ENST00000303230.4	-	8	2410	c.2353C>A	c.(2353-2355)Cca>Aca	p.P785T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	785					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)	p.P785T(2)		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						GCGGAGAGTGGCCTGACTTCC	0.627																																						uc003jok.2																			2	Substitution - Missense(2)		lung(1)|liver(1)	ovary(1)	1						c.(2353-2355)CCA>ACA		hyperpolarization activated cyclic							72.0	69.0	70.0					5																	45262343		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262343G>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.2353C>A	5.37:g.45262343G>T	ENSP00000307342:p.Pro785Thr						p.P785T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2378	-			785			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2353C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247317	0.39697	.	.	ENSG00000164588	ENST00000303230	T	0.76968	-1.06	5.02	4.13	0.48395	.	0.091207	0.47093	D	0.000250	T	0.61299	0.2336	N	0.19112	0.55	0.42587	D	0.993234	P	0.35433	0.501	B	0.25140	0.058	T	0.60672	-0.7217	10	0.30078	T	0.28	.	15.5847	0.76473	0.0:0.1384:0.8616:0.0	.	785	O60741	HCN1_HUMAN	T	785	ENSP00000307342:P785T	ENSP00000307342:P785T	P	-	1	0	HCN1	45298100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.359000	0.66074	1.211000	0.43351	0.655000	0.94253	CCA		PASS	0.627	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	28	9	28	---	---	---	---
CCDC125	202243	broad.mit.edu	37	5	68616126	68616126	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:68616126C>T	ENST00000396496.2	-	2	349	c.242G>A	c.(241-243)aGc>aAc	p.S81N	CCDC125_ENST00000383374.2_Missense_Mutation_p.S81N|CCDC125_ENST00000396499.1_Missense_Mutation_p.S81N|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	81						cytoplasm (GO:0005737)		p.S81N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATCTTGCTGGCTCTTATGCTT	0.408																																						uc003jvv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)AGC>AAC		coiled-coil domain containing 125							219.0	212.0	215.0					5																	68616126		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616126C>T	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.242G>A	5.37:g.68616126C>T	ENSP00000379754:p.Ser81Asn					CCDC125_uc003jvx.1_Missense_Mutation_p.S81N|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.S81N	p.S81N	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	285	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	81					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.242G>A	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	c	9.207	1.029961	0.19512	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.14266	2.55;2.55;2.52	5.1	-0.447	0.12234	.	0.545115	0.20408	N	0.092907	T	0.08537	0.0212	L	0.33485	1.01	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.13407	0.009;0.006	T	0.33979	-0.9847	10	0.23891	T	0.37	-3.8254	7.5217	0.27633	0.0:0.4583:0.0:0.5417	.	81;81	F8W912;Q86Z20	.;CC125_HUMAN	N	81	ENSP00000379754:S81N;ENSP00000379756:S81N;ENSP00000372865:S81N	ENSP00000372865:S81N	S	-	2	0	CCDC125	68651882	0.000000	0.05858	0.013000	0.15412	0.025000	0.11179	-0.213000	0.09305	0.026000	0.15269	-0.265000	0.10407	AGC		PASS	0.408	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		66	47	66	47	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70856009	70856009	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:70856009C>G	ENST00000358731.4	+	37	7704	c.7441C>G	c.(7441-7443)Cct>Gct	p.P2481A	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2481					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P2481A(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGATGCTGCTCCTAAGTCTCA	0.403																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(7441-7443)CCT>GCT		transcription factor-like nuclear regulator							105.0	97.0	100.0					5																	70856009		1934	4155	6089	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70856009C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7441C>G	5.37:g.70856009C>G	ENSP00000351575:p.Pro2481Ala					BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.P2481A	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7704	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2481					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7441C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	2.413	-0.335000	0.05278	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.03413	3.94	5.42	-1.49	0.08718	.	0.890982	0.09587	N	0.782051	T	0.02571	0.0078	L	0.40543	1.245	0.20926	N	0.99982	B	0.15473	0.013	B	0.16289	0.015	T	0.48990	-0.8985	10	0.02654	T	1	.	4.4811	0.11767	0.1554:0.389:0.0:0.4556	.	2481	A6H8Y1	BDP1_HUMAN	A	2481;2029	ENSP00000351575:P2481A	ENSP00000351575:P2481A	P	+	1	0	BDP1	70891765	0.046000	0.20272	0.327000	0.25402	0.542000	0.35054	-0.003000	0.12901	-0.022000	0.13986	-0.225000	0.12378	CCT		PASS	0.403	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		10	25	10	25	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112363013	112363013	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:112363013C>G	ENST00000302475.4	-	17	3039	c.2476G>C	c.(2476-2478)Gaa>Caa	p.E826Q	MCC_ENST00000515367.2_Missense_Mutation_p.E763Q|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E1016Q	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	826					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E1016Q(1)|p.E826Q(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGCGAAGTTTCATTGGTGTGT	0.532																																						uc003kqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2476-2478)GAA>CAA		mutated in colorectal cancers isoform 2							224.0	199.0	208.0					5																	112363013		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363013C>G		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2476G>C	5.37:g.112363013C>G	ENSP00000305617:p.Glu826Gln					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E1016Q	p.E826Q	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	3006	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	826					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.2476G>C	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287824	0.80803	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.57107	1.54;1.55;0.42	5.83	5.83	0.93111	.	0.000000	0.41396	U	0.000882	T	0.63094	0.2482	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.932	T	0.66380	-0.5938	10	0.87932	D	0	-13.3238	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1016;826	P23508-2;P23508	.;CRCM_HUMAN	Q	826;763;1016	ENSP00000305617:E826Q;ENSP00000421615:E763Q;ENSP00000386227:E1016Q	ENSP00000305617:E826Q	E	-	1	0	MCC	112390912	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	5.942000	0.70203	2.763000	0.94921	0.563000	0.77884	GAA		PASS	0.532	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		13	28	13	28	---	---	---	---
FEM1C	56929	broad.mit.edu	37	5	114879045	114879045	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:114879045G>C	ENST00000274457.3	-	2	707	c.146C>G	c.(145-147)gCc>gGc	p.A49G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	49					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.A49G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCCATACCTGGCGGCCATCAA	0.507																																						uc003krb.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(145-147)GCC>GGC		feminization 1 homolog a							51.0	53.0	53.0					5																	114879045		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114879045G>C		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.146C>G	5.37:g.114879045G>C	ENSP00000274457:p.Ala49Gly						p.A49G	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	708	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	49			ANK 2.		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.146C>G	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969636	0.92855	.	.	ENSG00000145780	ENST00000274457	T	0.68765	-0.35	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.121163	0.56097	D	0.000027	T	0.75474	0.3854	M	0.88775	2.98	0.58432	D	0.999999	P	0.41366	0.747	B	0.40134	0.32	T	0.81705	-0.0811	10	0.87932	D	0	-11.4757	19.291	0.94100	0.0:0.0:1.0:0.0	.	49	Q96JP0	FEM1C_HUMAN	G	49	ENSP00000274457:A49G	ENSP00000274457:A49G	A	-	2	0	FEM1C	114906944	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.809000	0.99208	2.557000	0.86248	0.591000	0.81541	GCC		PASS	0.507	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		17	6	17	6	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148700003	148700003	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:148700003G>A	ENST00000296721.4	+	14	1773	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.D559N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	559						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D559N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTATGATGATGTTCCTTA	0.458																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1675-1677)GAT>AAT		actin filament associated protein 1-like 1							110.0	103.0	105.0					5																	148700003		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148700003G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1675G>A	5.37:g.148700003G>A	ENSP00000296721:p.Asp559Asn					AFAP1L1_uc010jgy.2_Missense_Mutation_p.D559N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.D174N	p.D559N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1806	+			559					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1675G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636960	0.67130	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.16597	2.33;2.33	5.41	5.41	0.78517	.	0.152182	0.64402	D	0.000015	T	0.23766	0.0575	M	0.64404	1.975	0.50313	D	0.999866	B;B	0.27559	0.127;0.181	B;B	0.32022	0.139;0.075	T	0.01508	-1.1337	10	0.42905	T	0.14	-18.6368	16.5079	0.84277	0.0:0.0:1.0:0.0	.	559;559	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	559	ENSP00000296721:D559N;ENSP00000424427:D559N	ENSP00000296721:D559N	D	+	1	0	AFAP1L1	148680196	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.362000	0.79507	2.826000	0.97356	0.655000	0.94253	GAT		PASS	0.458	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		11	21	11	21	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413281	178413281	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr5:178413281G>T	ENST00000517717.1	-	9	2012	c.1974C>A	c.(1972-1974)ggC>ggA	p.G658G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G658G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	658					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.G658G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCGTGCCCAGGCCCAGGAAGA	0.637																																						uc003mjr.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1972-1974)GGC>GGA		glutamate receptor, metabotropic 6 precursor							43.0	46.0	45.0					5																	178413281		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413281G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1974C>A	5.37:g.178413281G>T						GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.G241G|GRM6_uc003mjs.1_Silent_p.G278G	p.G658G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2153	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	658			Helical; Name=3; (Potential).			Silent	SNP	ENST00000517717.1	37	c.1974C>A	CCDS4442.1																																																																																				PASS	0.637	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	3	7	3	---	---	---	---
ZKSCAN8	7745	broad.mit.edu	37	6	28116249	28116249	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:28116249C>G	ENST00000330236.6	+	2	248	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L22V	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	22					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L22V(1)									TGAAGAGGATCTTGTAATCGT	0.502																																						uc003nkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CTT>GTT		zinc finger protein 192							96.0	84.0	88.0					6																	28116249		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28116249C>G		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.64C>G	6.37:g.28116249C>G	ENSP00000332750:p.Leu22Val					ZNF192_uc010jqx.1_Missense_Mutation_p.L22V|ZNF192_uc010jqy.1_Translation_Start_Site|ZNF192_uc011dkz.1_Translation_Start_Site	p.L22V	NM_006298	NP_006289	Q15776	ZN192_HUMAN			2	248	+			22					A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.64C>G	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487722	0.64074	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.07688	3.17;3.17;3.74	5.02	4.15	0.48705	.	0.000000	0.41712	D	0.000836	T	0.13713	0.0332	M	0.70903	2.155	0.31592	N	0.653745	D	0.63880	0.993	D	0.70016	0.967	T	0.01863	-1.1258	10	0.46703	T	0.11	.	10.186	0.42998	0.0:0.9053:0.0:0.0946	.	22	Q15776	ZN192_HUMAN	V	22	ENSP00000332750:L22V;ENSP00000402948:L22V;ENSP00000439117:L22V	ENSP00000332750:L22V	L	+	1	0	ZNF192	28224228	0.179000	0.23135	0.974000	0.42286	0.980000	0.70556	1.393000	0.34497	1.430000	0.47334	0.563000	0.77884	CTT		PASS	0.502	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			13	57	13	57	---	---	---	---
GPX5	2880	broad.mit.edu	37	6	28499635	28499635	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:28499635G>C	ENST00000412168.2	+	3	411	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	GPX5_ENST00000469384.1_Intron|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	108					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.E108Q(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGGAAAGCAAGAACCAGGAGA	0.488																																						uc003nll.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(322-324)GAA>CAA		glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)						195.0	183.0	187.0					6																	28499635		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28499635G>C	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.322G>C	6.37:g.28499635G>C	ENSP00000392398:p.Glu108Gln					GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	p.E108Q	NM_001509	NP_001500	O75715	GPX5_HUMAN			3	324	+			108					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.322G>C	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154519	0.78114	.	.	ENSG00000224586	ENST00000412168	T	0.17370	2.28	3.88	3.88	0.44766	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66724	-0.5851	10	0.87932	D	0	-8.3344	11.6415	0.51235	0.0:0.0:1.0:0.0	.	108	O75715	GPX5_HUMAN	Q	108	ENSP00000392398:E108Q	ENSP00000392398:E108Q	E	+	1	0	GPX5	28607614	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.264000	0.89866	2.471000	0.83476	0.561000	0.74099	GAA		PASS	0.488	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			42	156	42	156	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31322940	31322940	+	Missense_Mutation	SNP	G	G	T	rs9264619		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:31322940G>T	ENST00000412585.2	-	5	984	c.956C>A	c.(955-957)gCa>gAa	p.A319E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	319					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.A319E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GACCACAACTGCTAGGACAGC	0.607									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)GCA>GAA		major histocompatibility complex, class I, B							92.0	91.0	91.0					6																	31322940		1511	2709	4220	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31322940G>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.956C>A	6.37:g.31322940G>T	ENSP00000399168:p.Ala319Glu					HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A198E|HLA-B_uc003nti.1_Intron	p.A319E	NM_005514	NP_005505	P01889	1B07_HUMAN			5	1010	-			319			Helical; (Potential).		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.956C>A	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	7.701	0.693139	0.15039	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00695	5.83	2.14	-1.11	0.09840	.	1.659780	0.04630	U	0.403459	T	0.01254	0.0041	M	0.94142	3.5	0.09310	N	1	P	0.48016	0.904	P	0.49387	0.609	T	0.21042	-1.0257	10	0.87932	D	0	.	4.555	0.12133	0.4354:0.3479:0.2167:0.0	.	319	P01889	1B07_HUMAN	E	319;198	ENSP00000399168:A319E	ENSP00000399168:A319E	A	-	2	0	HLA-B	31430919	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.818000	0.00751	-0.309000	0.08779	-0.437000	0.05841	GCA		PASS	0.607	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		23	54	23	54	---	---	---	---
LTB	4050	broad.mit.edu	37	6	31548838	31548838	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:31548838G>T	ENST00000429299.2	-	4	390	c.383C>A	c.(382-384)cCg>cAg	p.P128Q	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	128					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.P128Q(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GCCGTCCTGCGGGAGCGCCAG	0.721																																						uc003nuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)CCG>CAG		lymphotoxin-beta isoform a	Infliximab(DB00065)|Simvastatin(DB00641)						18.0	19.0	19.0					6																	31548838		1508	2706	4214	SO:0001583	missense	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548838G>T	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.383C>A	6.37:g.31548838G>T	ENSP00000410481:p.Pro128Gln					LTB_uc003nul.2_3'UTR	p.P128Q	NM_002341	NP_002332	Q06643	TNFC_HUMAN			4	391	-			128			Extracellular (Potential).		P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	c.383C>A	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633554	0.67015	.	.	ENSG00000227507	ENST00000429299	D	0.95001	-3.58	5.47	4.58	0.56647	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.181464	0.38492	N	0.001677	D	0.93582	0.7951	M	0.86178	2.8	0.80722	D	1	P	0.41420	0.749	P	0.44647	0.456	D	0.93829	0.7126	10	0.87932	D	0	-34.0817	11.3923	0.49822	0.0:0.0:0.8189:0.1811	.	128	Q06643	TNFC_HUMAN	Q	128	ENSP00000410481:P128Q	ENSP00000410481:P128Q	P	-	2	0	LTB	31656817	0.979000	0.34478	0.212000	0.23672	0.610000	0.37248	3.378000	0.52432	1.252000	0.44001	0.591000	0.81541	CCG		PASS	0.721	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			3	6	3	6	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38854590	38854590	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:38854590G>C	ENST00000359357.3	+	55	7886	c.7632G>C	c.(7630-7632)caG>caC	p.Q2544H	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q2761H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q2508H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2544	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q2544H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGTGCGACAGATGATGGAAA	0.378																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7630-7632)CAG>CAC		dynein, axonemal, heavy polypeptide 8							138.0	127.0	130.0					6																	38854590		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38854590G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7632G>C	6.37:g.38854590G>C	ENSP00000352312:p.Gln2544His						p.Q2544H	NM_001371	NP_001362					55	8232	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7632G>C		.	.	.	.	.	.	.	.	.	.	G	18.08	3.545072	0.65198	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.45276	0.9;0.9;0.9	5.79	2.9	0.33743	ATPase, AAA+ type, core (1);	0.056618	0.64402	D	0.000001	T	0.68504	0.3008	H	0.97940	4.11	0.46298	D	0.998976	D	0.89917	1.0	D	0.97110	1.0	T	0.77389	-0.2606	10	0.66056	D	0.02	.	11.7358	0.51765	0.2627:0.0:0.7373:0.0	.	2544	Q96JB1	DYH8_HUMAN	H	2749;2749;2544;2508	ENSP00000333363:Q2749H;ENSP00000352312:Q2544H;ENSP00000402294:Q2508H	ENSP00000333363:Q2749H	Q	+	3	2	DNAH8	38962568	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.321000	0.51999	0.276000	0.22118	0.561000	0.74099	CAG		PASS	0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		18	56	18	56	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42996841	42996841	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:42996841C>A	ENST00000244496.5	+	7	665	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	219					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q219K(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TGAGCAGCGCCAGTTGGCACT	0.483																																						uc003otp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CAG>AAG		hypothetical protein LOC88745							177.0	184.0	181.0					6																	42996841		2203	4300	6503	SO:0001583	missense	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42996841C>A	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.655C>A	6.37:g.42996841C>A	ENSP00000244496:p.Gln219Lys						p.Q219K	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	663	+			219					Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	c.655C>A	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	C	5.507	0.278497	0.10403	.	.	ENSG00000124541	ENST00000244496	T	0.34859	1.34	5.37	5.37	0.77165	.	0.145241	0.44902	D	0.000409	T	0.03220	0.0094	N	0.00424	-1.51	0.38622	D	0.951163	B	0.21225	0.053	B	0.19946	0.027	T	0.41805	-0.9488	10	0.02654	T	1	.	12.1834	0.54223	0.213:0.787:0.0:0.0	.	219	Q96EU6	RRP36_HUMAN	K	219	ENSP00000244496:Q219K	ENSP00000244496:Q219K	Q	+	1	0	RRP36	43104819	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	4.564000	0.60830	2.706000	0.92434	0.557000	0.71058	CAG		PASS	0.483	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		7	222	7	222	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72975123	72975123	+	Silent	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:72975123A>G	ENST00000521978.1	+	21	3225	c.3225A>G	c.(3223-3225)aaA>aaG	p.K1075K	RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000522291.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1075					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)	p.K1075K(1)		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)				CTAAGACCAAATCAGTGACTA	0.299																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3223-3225)AAA>AAG		regulating synaptic membrane exocytosis 1							117.0	104.0	108.0					6																	72975123		1848	4098	5946	SO:0001819	synonymous_variant	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.chr6:72975123A>G	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.3225A>G	6.37:g.72975123A>G						RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	p.K1075K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			21	3302	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1075					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.3225A>G	CCDS47449.1																																																																																				PASS	0.299	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			27	28	27	28	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023089	76023089	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:76023089G>C	ENST00000237172.7	-	5	2789	c.2459C>G	c.(2458-2460)cCa>cGa	p.P820R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.P721R|FILIP1_ENST00000393004.2_Missense_Mutation_p.P820R	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	820								p.P820R(1)		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						GAATACAGCTGGCGTTTCTTC	0.463																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2458-2460)CCA>CGA		filamin A interacting protein 1							151.0	162.0	158.0					6																	76023089		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023089G>C	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.2459C>G	6.37:g.76023089G>C	ENSP00000237172:p.Pro820Arg					FILIP1_uc003phy.1_Missense_Mutation_p.P820R|FILIP1_uc003phz.2_Missense_Mutation_p.P721R|FILIP1_uc010kbe.2_Missense_Mutation_p.P823R|FILIP1_uc003pib.1_Missense_Mutation_p.P572R	p.P820R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2832	-			820					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2459C>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118448	0.20877	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21031	2.04;2.03;2.04	5.28	5.28	0.74379	.	0.172532	0.52532	D	0.000070	T	0.24586	0.0596	L	0.47716	1.5	0.58432	D	0.999999	D;D;D	0.60575	0.988;0.97;0.982	P;P;P	0.59889	0.797;0.737;0.865	T	0.00995	-1.1487	10	0.15952	T	0.53	-17.9481	19.1041	0.93285	0.0:0.0:1.0:0.0	.	820;820;820	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	R	820;820;721	ENSP00000376728:P820R;ENSP00000237172:P820R;ENSP00000359037:P721R	ENSP00000237172:P820R	P	-	2	0	FILIP1	76079809	1.000000	0.71417	0.703000	0.30354	0.487000	0.33371	7.653000	0.83643	2.758000	0.94735	0.563000	0.77884	CCA		PASS	0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	133	5	133	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82882108	82882109	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:82882108_82882109CC>AA	ENST00000306270.7	-	28	4467_4468	c.3918_3919GG>TT	c.(3916-3921)ttGGct>ttTTct	p.1306_1307LA>FS	IBTK_ENST00000503631.1_Missense_Mutation_p.1105_1106LA>FS|IBTK_ENST00000510291.1_Missense_Mutation_p.1291_1292LA>FS	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1306					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.L1306F(1)|p.L1306_A1307>FS(1)|p.A1307S(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAATCAGAGCCAACGGTTTTT	0.371																																						uc003pjl.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|central_nervous_system(2)	4						c.(3919-3921)GCT>TCT|c.(3916-3918)TTG>TTT		inhibitor of Bruton's tyrosine kinase																																				SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82882108C>A|g.chr6:82882109C>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3918_3919delinsAA	6.37:g.82882108_82882109delinsAA	ENSP00000305721:p.L1306_A1307delinsFS					IBTK_uc011dyu.1_Missense_Mutation_p.A258S|IBTK_uc011dyv.1_Missense_Mutation_p.A1292S|IBTK_uc011dyw.1_Missense_Mutation_p.A1106S|IBTK_uc010kbi.1_Missense_Mutation_p.A1001S|IBTK_uc011dyu.1_Missense_Mutation_p.L257F|IBTK_uc011dyv.1_Missense_Mutation_p.L1291F|IBTK_uc011dyw.1_Missense_Mutation_p.L1105F|IBTK_uc010kbi.1_Missense_Mutation_p.L1000F	p.A1307S|p.L1306F	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	28	4446|4445	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	1307|1306					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.3919G>T|c.3918G>T	CCDS34490.1																																																																																				PASS	0.371	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		5	31|30	5	30	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82922461	82922461	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:82922461T>C	ENST00000306270.7	-	13	2803	c.2254A>G	c.(2254-2256)Aac>Gac	p.N752D	RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Missense_Mutation_p.N551D|IBTK_ENST00000510291.1_Missense_Mutation_p.N752D	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	752					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.N752D(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTACCAGTGTTCTTGGCAATA	0.299																																						uc003pjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2254-2256)AAC>GAC		inhibitor of Bruton's tyrosine kinase							156.0	140.0	145.0					6																	82922461		2203	4298	6501	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82922461T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2254A>G	6.37:g.82922461T>C	ENSP00000305721:p.Asn752Asp					IBTK_uc011dyv.1_Missense_Mutation_p.N752D|IBTK_uc011dyw.1_Missense_Mutation_p.N551D|IBTK_uc010kbi.1_Missense_Mutation_p.N446D|IBTK_uc003pjm.2_Missense_Mutation_p.N752D	p.N752D	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	13	2781	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	752					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2254A>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808441	0.50421	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.26223	2.04;1.75;2.04	5.77	4.59	0.56863	BTB/POZ fold (1);	0.145914	0.64402	D	0.000013	T	0.04227	0.0117	N	0.08118	0	0.22656	N	0.998884	P;B;B;B	0.37158	0.585;0.004;0.024;0.004	B;B;B;B	0.31442	0.13;0.008;0.03;0.008	T	0.26224	-1.0109	10	0.19147	T	0.46	-8.4474	12.1567	0.54081	0.0:0.0707:0.0:0.9293	.	551;752;752;752	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	D	752;551;752	ENSP00000305721:N752D;ENSP00000422762:N551D;ENSP00000426405:N752D	ENSP00000305721:N752D	N	-	1	0	IBTK	82979180	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.945000	0.63568	2.330000	0.79161	0.477000	0.44152	AAC		PASS	0.299	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		6	32	6	32	---	---	---	---
QRSL1	55278	broad.mit.edu	37	6	107111000	107111000	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:107111000G>C	ENST00000369046.4	+	10	1410	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.E436Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GTTCATCAAAGAGGACAACAG	0.413																																					NSCLC(192;2127 2142 11668 26277 49545)	uc003prm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)GAG>CAG		glutaminyl-tRNA synthase							97.0	89.0	92.0					6																	107111000		2203	4300	6503	SO:0001583	missense	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107111000G>C	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1306G>C	6.37:g.107111000G>C	ENSP00000358042:p.Glu436Gln						p.E436Q	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	10	1422	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	436						Missense_Mutation	SNP	ENST00000369046.4	37	c.1306G>C	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045894	0.75846	.	.	ENSG00000130348	ENST00000369046	T	0.55413	0.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	N	0.11756	0.17	0.80722	D	1	B	0.34399	0.452	P	0.47705	0.555	T	0.43097	-0.9412	10	0.31617	T	0.26	-21.4283	19.2883	0.94087	0.0:0.0:1.0:0.0	.	436	Q9H0R6	GATA_HUMAN	Q	436	ENSP00000358042:E436Q	ENSP00000358042:E436Q	E	+	1	0	QRSL1	107217693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.578000	0.87016	0.484000	0.47621	GAG		PASS	0.413	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		13	29	13	29	---	---	---	---
MTFR2	113115	broad.mit.edu	37	6	136560824	136560824	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:136560824G>C	ENST00000420702.1	-	6	1038	c.649C>G	c.(649-651)Cag>Gag	p.Q217E	MTFR2_ENST00000451457.2_Missense_Mutation_p.Q217E	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	217	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)		p.Q217E(1)									GATGAAAACTgaggaggaagt	0.502																																						uc010kgp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(649-651)CAG>GAG		DUF729 domain containing 1							70.0	64.0	66.0					6																	136560824		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136560824G>C	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.649C>G	6.37:g.136560824G>C	ENSP00000395232:p.Gln217Glu					FAM54A_uc003qgt.1_Missense_Mutation_p.Q217E|FAM54A_uc003qgu.1_Missense_Mutation_p.Q174E	p.Q217E	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN		GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)	6	1039	-	Colorectal(23;0.24)		217			Pro-rich.		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.649C>G	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	6.618	0.482471	0.12581	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.44482	0.92;0.92;0.92	5.33	4.44	0.53790	.	3.689560	0.00397	N	0.000051	T	0.17831	0.0428	L	0.54323	1.7	0.09310	N	1	B	0.21606	0.058	B	0.18871	0.023	T	0.48055	-0.9068	10	0.05525	T	0.97	1.1256	12.0484	0.53493	0.0:0.174:0.826:0.0	.	217	Q6P444	FA54A_HUMAN	E	217;217;174	ENSP00000407010:Q217E;ENSP00000395232:Q217E;ENSP00000410861:Q174E	ENSP00000410861:Q174E	Q	-	1	0	FAM54A	136602517	0.964000	0.33143	0.005000	0.12908	0.333000	0.28666	1.798000	0.38814	1.333000	0.45449	0.650000	0.86243	CAG		PASS	0.502	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		7	29	7	29	---	---	---	---
NUP43	348995	broad.mit.edu	37	6	150067096	150067096	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:150067096C>A	ENST00000340413.2	-	2	299	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	NUP43_ENST00000460354.2_Missense_Mutation_p.G75C|NUP43_ENST00000367403.3_Missense_Mutation_p.G136C|NUP43_ENST00000367404.4_Missense_Mutation_p.G75C|NUP43_ENST00000463048.3_5'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	75					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.G75C(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATTACATCACCATGGTGTCTG	0.363																																						uc003qmz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(223-225)GGT>TGT		nucleoporin 43kDa							127.0	124.0	125.0					6																	150067096		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067096C>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.223G>T	6.37:g.150067096C>A	ENSP00000342262:p.Gly75Cys					NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.G75C	p.G75C	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	2	280	-		Ovarian(120;0.0164)	75			WD 2.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.223G>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262985	0.95399	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.72942	-0.23;-0.23;-0.7;-0.7;-0.7	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85967	0.1474	10	0.87932	D	0	-26.5731	20.6647	0.99678	0.0:1.0:0.0:0.0	.	75;75	B4E2F0;Q8NFH3	.;NUP43_HUMAN	C	75;75;136;75;82	ENSP00000342262:G75C;ENSP00000432401:G75C;ENSP00000356373:G136C;ENSP00000356374:G75C;ENSP00000438031:G82C	ENSP00000342262:G75C	G	-	1	0	NUP43	150108789	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	GGT		PASS	0.363	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		84	74	84	74	---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151773689	151773689	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:151773689C>A	ENST00000367294.3	+	1	268	c.9C>A	c.(7-9)gtC>gtA	p.V3V	C6orf211_ENST00000483931.1_3'UTR|RMND1_ENST00000367303.4_5'Flank|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	3								p.V3V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGATGGCTGTCGTCCCGGCGT	0.632																																						uc003qok.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)GTC>GTA		hypothetical protein LOC79624							65.0	70.0	68.0					6																	151773689		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151773689C>A	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.9C>A	6.37:g.151773689C>A						C6orf211_uc011ees.1_5'UTR|RMND1_uc003qoi.2_5'Flank	p.V3V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	1	268	+			3					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.9C>A	CCDS5233.1																																																																																				PASS	0.632	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		15	67	15	67	---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153042995	153042995	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:153042995G>A	ENST00000367245.5	+	2	323	c.315G>A	c.(313-315)caG>caA	p.Q105Q	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	105						nucleus (GO:0005634)		p.Q105Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCATCTCACAGTGGAGTTCAA	0.507																																						uc003qpd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(313-315)CAG>CAA		myc target 1							152.0	138.0	143.0					6																	153042995		2203	4300	6503	SO:0001819	synonymous_variant	80177					nucleus		g.chr6:153042995G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.315G>A	6.37:g.153042995G>A						MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.Q105Q	p.Q105Q	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	323	+		Ovarian(120;0.0654)	105			Bipartite nuclear localization signal (Potential).		Q8N396|Q8TBE8|Q9H763	Silent	SNP	ENST00000367245.5	37	c.315G>A	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	8.490	0.861912	0.17178	.	.	ENSG00000120279	ENST00000532295	.	.	.	5.77	0.0404	0.14209	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	-11.693	5.2061	0.15291	0.2928:0.0:0.4848:0.2224	.	.	.	.	N	86	.	.	S	+	2	0	MYCT1	153084688	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	1.794000	0.38774	0.044000	0.15775	-0.254000	0.11334	AGT		PASS	0.507	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		82	54	82	54	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160553335	160553335	+	Nonsense_Mutation	SNP	C	C	A	rs373689990		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:160553335C>A	ENST00000366963.4	+	3	734	c.587C>A	c.(586-588)tCg>tAg	p.S196*	SLC22A1_ENST00000457470.2_Nonsense_Mutation_p.S196*|SLC22A1_ENST00000324965.4_Nonsense_Mutation_p.S196*	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	196					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.S196*(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	ATGGCCTTCTCGCCCAACTAC	0.577																																						uc003qtc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(586-588)TCG>TAG		solute carrier family 22 member 1 isoform a							214.0	177.0	190.0					6																	160553335		2203	4300	6503	SO:0001587	stop_gained	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160553335C>A	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.587C>A	6.37:g.160553335C>A	ENSP00000355930:p.Ser196*					SLC22A1_uc003qtd.2_Nonsense_Mutation_p.S196*	p.S196*	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	3	692	+		Breast(66;0.000776)|Ovarian(120;0.00556)	196			Helical; (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Nonsense_Mutation	SNP	ENST00000366963.4	37	c.587C>A	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849830	0.32699	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470;ENST00000540443	.	.	.	4.34	2.56	0.30785	.	0.430817	0.22669	N	0.057100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	8.6324	0.33928	0.0:0.7236:0.0:0.2764	.	.	.	.	X	196;196;196;4	.	ENSP00000318103:S196X	S	+	2	0	SLC22A1	160473325	0.045000	0.20229	0.000000	0.03702	0.002000	0.02628	2.470000	0.45119	0.306000	0.22856	-0.253000	0.11424	TCG		PASS	0.577	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			5	155	5	155	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2740387	2740387	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:2740387T>C	ENST00000312371.4	+	2	670	c.302T>C	c.(301-303)aTa>aCa	p.I101T	AMZ1_ENST00000407112.1_Missense_Mutation_p.I101T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	101							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I101T(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTACAGCCGATAGGTACGGGA	0.632																																						uc003smr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)ATA>ACA		archaelysin family metallopeptidase 1							35.0	40.0	38.0					7																	2740387		2202	4297	6499	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740387T>C	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.302T>C	7.37:g.2740387T>C	ENSP00000308149:p.Ile101Thr					AMZ1_uc003sms.1_Missense_Mutation_p.I101T|AMZ1_uc011jwa.1_5'Flank	p.I101T	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	663	+		Ovarian(82;0.0779)	101					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.302T>C	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534703	0.64972	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.19105	2.17;2.17	4.34	4.34	0.51931	.	0.000000	0.64402	D	0.000002	T	0.42607	0.1210	M	0.81341	2.54	0.45390	D	0.998374	D;P	0.61697	0.99;0.9	P;P	0.59115	0.852;0.517	T	0.46582	-0.9181	10	0.66056	D	0.02	-5.3761	12.1049	0.53807	0.0:0.0:0.0:1.0	.	101;101	B3KRS0;Q400G9	.;AMZ1_HUMAN	T	101	ENSP00000308149:I101T;ENSP00000386020:I101T	ENSP00000308149:I101T	I	+	2	0	AMZ1	2706913	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	5.233000	0.65337	1.603000	0.50134	0.459000	0.35465	ATA		PASS	0.632	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		14	19	14	19	---	---	---	---
MRPL32	64983	broad.mit.edu	37	7	42972006	42972006	+	Silent	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:42972006C>G	ENST00000223324.2	+	1	208	c.21C>G	c.(19-21)gtC>gtG	p.V7V	PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	7					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.V7V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						CCATGCTGGTCTTGGTGGTTT	0.652																																						uc003tia.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)GTC>GTG		mitochondrial ribosomal protein L32 precursor							54.0	57.0	56.0					7																	42972006		2203	4300	6503	SO:0001819	synonymous_variant	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42972006C>G	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.21C>G	7.37:g.42972006C>G						C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	p.V7V	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			1	68	+			7					Q96Q68|Q9P098	Silent	SNP	ENST00000223324.2	37	c.21C>G	CCDS5468.1																																																																																				PASS	0.652	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		15	19	15	19	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963091	88963091	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:88963091C>T	ENST00000333190.4	+	4	1404	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	265							metal ion binding (GO:0046872)	p.C265C(1)		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)			AGTGCAAGTGCTGCAGGTTTG	0.368										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(793-795)TGC>TGT		zinc finger protein 804B							73.0	68.0	70.0					7																	88963091		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963091C>T	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.795C>T	7.37:g.88963091C>T		HNSCC(36;0.09)					p.C265C	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1333	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		265					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.795C>T	CCDS5613.1																																																																																				PASS	0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		19	19	19	19	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98506544	98506544	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:98506544G>C	ENST00000359863.4	+	14	1518	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E437Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E437Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	437					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.E437Q(2)		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)			GAGCGAGCAGGAGAGTGGCAA	0.542																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1309-1311)GAG>CAG		transformation/transcription domain-associated							73.0	68.0	69.0					7																	98506544		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.chr7:98506544G>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.1309G>C	7.37:g.98506544G>C	ENSP00000352925:p.Glu437Gln					TRRAP_uc011kis.1_Missense_Mutation_p.E437Q|TRRAP_uc003upr.2_Missense_Mutation_p.E129Q	p.E437Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1518	+	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)		437					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1309G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.387265|4.387265	0.82902|0.82902	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64803|.	3.98;-0.12|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76933|0.76933	0.4057|0.4057	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.989;0.981;0.981|.	D;D;D|.	0.70487|.	0.969;0.932;0.932|.	T|T	0.74309|0.74309	-0.3707|-0.3707	10|5	0.39692|.	T|.	0.17|.	.|.	20.1551|20.1551	0.98106|0.98106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	437;151;437|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|S	437|151	ENSP00000352925:E437Q;ENSP00000347733:E437Q|.	ENSP00000347733:E437Q|.	E|R	+|+	1|3	0|2	TRRAP|TRRAP	98344480|98344480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.625000|9.625000	0.98406|0.98406	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GAG|AGG		PASS	0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	31	3	31	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629586	103629586	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:103629586T>G	ENST00000428762.1	-	1	377	c.218A>C	c.(217-219)gAa>gCa	p.E73A	RELN_ENST00000343529.5_Missense_Mutation_p.E73A|RELN_ENST00000424685.2_Missense_Mutation_p.E73A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	73	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)	p.E73A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCATGGTATTCTTGTCCCGG	0.642																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(217-219)GAA>GCA		reelin isoform a							50.0	51.0	51.0					7																	103629586		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.chr7:103629586T>G		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.218A>C	7.37:g.103629586T>G	ENSP00000392423:p.Glu73Ala					RELN_uc010liz.2_Missense_Mutation_p.E73A	p.E73A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	378	-			73			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.218A>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	34	5.355439	0.95854	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22743	1.94;1.94;1.94	5.31	5.31	0.75309	Reeler domain (2);	0.070956	0.53938	D	0.000048	T	0.32941	0.0846	N	0.24115	0.695	0.58432	D	0.999992	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	T	0.10706	-1.0618	10	0.56958	D	0.05	.	15.4278	0.75069	0.0:0.0:0.0:1.0	.	73;73	P78509-2;P78509	.;RELN_HUMAN	A	73	ENSP00000392423:E73A;ENSP00000345694:E73A;ENSP00000388446:E73A	ENSP00000345694:E73A	E	-	2	0	RELN	103416822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.157000	0.77461	2.228000	0.72767	0.460000	0.39030	GAA		PASS	0.642	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	23	20	23	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107706244	107706244	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:107706244G>T	ENST00000388781.3	-	21	2882	c.2799C>A	c.(2797-2799)agC>agA	p.S933R	LAMB4_ENST00000388780.3_Missense_Mutation_p.S933R|LAMB4_ENST00000205386.4_Missense_Mutation_p.S933R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	933	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.S933R(1)		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						TTACATCTGAGCTCCACAGAT	0.418																																						uc010ljo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2797-2799)AGC>AGA		laminin, beta 4 precursor							150.0	140.0	143.0					7																	107706244		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706244G>T	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.2799C>A	7.37:g.107706244G>T	ENSP00000373433:p.Ser933Arg					LAMB4_uc003vey.2_Missense_Mutation_p.S933R|LAMB4_uc010ljp.1_5'Flank	p.S933R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			21	2883	-			933			Laminin EGF-like 9.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2799C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080438	0.55753	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.64260	-0.09;-0.09;-0.09	4.8	2.8	0.32819	EGF-like, laminin (2);	0.733878	0.12460	N	0.466976	T	0.63212	0.2492	L	0.50333	1.59	0.09310	N	0.999998	P	0.46784	0.884	P	0.53062	0.717	T	0.52563	-0.8559	10	0.52906	T	0.07	.	4.8538	0.13549	0.2008:0.2105:0.5886:0.0	.	933	A4D0S4	LAMB4_HUMAN	R	933	ENSP00000205386:S933R;ENSP00000373433:S933R;ENSP00000373432:S933R	ENSP00000205386:S933R	S	-	3	2	LAMB4	107493480	0.001000	0.12720	0.987000	0.45799	0.978000	0.69477	1.114000	0.31196	1.208000	0.43306	0.563000	0.77884	AGC		PASS	0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		20	66	20	66	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915186	119915186	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:119915186C>T	ENST00000331113.4	+	1	1465	c.500C>T	c.(499-501)gCa>gTa	p.A167V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	167					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)	p.A167V(1)		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)	ACCATGACTGCAAGGCAGAGG	0.607																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(499-501)GCA>GTA		potassium voltage-gated channel, Shal-related							68.0	68.0	68.0					7																	119915186		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915186C>T	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.500C>T	7.37:g.119915186C>T	ENSP00000333496:p.Ala167Val						p.A167V	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1465	+	all_neural(327;0.117)		167			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.500C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471658	0.26423	.	.	ENSG00000184408	ENST00000331113	D	0.96459	-4.02	5.58	5.58	0.84498	.	0.312995	0.31427	N	0.007663	D	0.90501	0.7024	N	0.05078	-0.115	0.48185	D	0.999605	B	0.02656	0.0	B	0.06405	0.002	D	0.86026	0.1510	9	.	.	.	.	19.5831	0.95478	0.0:1.0:0.0:0.0	.	167	Q9NZV8	KCND2_HUMAN	V	167	ENSP00000333496:A167V	.	A	+	2	0	KCND2	119702422	0.818000	0.29161	0.217000	0.23759	0.622000	0.37654	2.404000	0.44539	2.641000	0.89580	0.563000	0.77884	GCA		PASS	0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	37	13	37	---	---	---	---
SSMEM1	136263	broad.mit.edu	37	7	129855864	129855864	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:129855864C>T	ENST00000297819.3	+	3	340	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	97						integral component of membrane (GO:0016021)		p.P97S(1)									TGCCTGGGATCCCTCACAAAC	0.428																																						uc003vpp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)CCC>TCC		hypothetical protein LOC136263							129.0	114.0	119.0					7																	129855864		2203	4300	6503	SO:0001583	missense	136263					integral to membrane		g.chr7:129855864C>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.289C>T	7.37:g.129855864C>T	ENSP00000297819:p.Pro97Ser						p.P97S	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			3	336	+	Melanoma(18;0.0435)		97						Missense_Mutation	SNP	ENST00000297819.3	37	c.289C>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.504255	0.00155	.	.	ENSG00000165120	ENST00000297819	T	0.27720	1.65	5.84	-1.17	0.09648	.	0.851711	0.10564	N	0.659916	T	0.05181	0.0138	N	0.00465	-1.465	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35624	-0.9781	10	0.02654	T	1	-1.3248	1.3051	0.02087	0.1347:0.2274:0.1398:0.4982	.	97	Q8WWF3	CG045_HUMAN	S	97	ENSP00000297819:P97S	ENSP00000297819:P97S	P	+	1	0	C7orf45	129643100	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	-0.001000	0.12947	-0.123000	0.11745	-0.964000	0.02622	CCC		PASS	0.428	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		32	50	32	50	---	---	---	---
TSGA13	114960	broad.mit.edu	37	7	130353950	130353950	+	Missense_Mutation	SNP	C	C	A	rs149212840		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:130353950C>A	ENST00000456951.1	-	9	1583	c.732G>T	c.(730-732)ttG>ttT	p.L244F	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Missense_Mutation_p.L244F			Q96PP4	TSG13_HUMAN	testis specific, 13	244								p.L244F(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCATGTCTTCCAAGAGCGATG	0.582																																						uc003vqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(730-732)TTG>TTT		testis specific, 13							113.0	107.0	109.0					7																	130353950		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130353950C>A	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.732G>T	7.37:g.130353950C>A	ENSP00000406047:p.Leu244Phe					COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.L244F	p.L244F	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			8	1189	-	Melanoma(18;0.0435)		244					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.732G>T	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560867	0.45590	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.44	1.54	0.23209	.	0.620826	0.13378	N	0.392389	T	0.40448	0.1117	L	0.34521	1.04	0.09310	N	1	D	0.57571	0.98	P	0.60068	0.868	T	0.17137	-1.0379	9	0.52906	T	0.07	-0.1325	7.6367	0.28270	0.0:0.6373:0.0:0.3626	.	244	Q96PP4	TSG13_HUMAN	F	244	.	ENSP00000348996:L244F	L	-	3	2	TSGA13	130004490	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.084000	0.14891	0.261000	0.21753	-0.258000	0.10820	TTG		PASS	0.582	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		5	54	5	54	---	---	---	---
SLC35G5	83650	broad.mit.edu	37	8	11189484	11189484	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:11189484T>C	ENST00000382435.4	+	1	1088	c.869T>C	c.(868-870)gTg>gCg	p.V290A		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	290	EamA 2.					integral component of membrane (GO:0016021)		p.V290A(1)									CATTCCGAGGTGGTTGTGGCC	0.577																																						uc003wtp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)GTG>GCG		acyl-malonyl condensing enzyme							131.0	120.0	124.0					8																	11189484		2203	4299	6502	SO:0001583	missense	83650					integral to membrane		g.chr8:11189484T>C	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.869T>C	8.37:g.11189484T>C	ENSP00000371872:p.Val290Ala						p.V290A	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	990	+			290			DUF6 2.|Helical; (Potential).		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.869T>C	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	12.46	1.944264	0.34283	.	.	ENSG00000177710	ENST00000382435	T	0.52754	0.65	.	.	.	.	0.000000	0.40064	N	0.001191	T	0.43122	0.1233	N	0.14661	0.345	0.34475	D	0.703255	D	0.69078	0.997	D	0.79108	0.992	T	0.53620	-0.8413	9	0.87932	D	0	-5.9244	4.4978	0.11848	0.0:7.0E-4:0.0:0.9993	.	290	Q96KT7	S35G5_HUMAN	A	290	ENSP00000371872:V290A	ENSP00000371872:V290A	V	+	2	0	SLC35G5	11226894	1.000000	0.71417	0.107000	0.21349	0.108000	0.19459	3.198000	0.51035	0.056000	0.16144	0.055000	0.15244	GTG		PASS	0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		7	53	7	53	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18730071	18730071	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:18730071G>A	ENST00000327040.8	-	3	405	c.303C>T	c.(301-303)caC>caT	p.H101H	PSD3_ENST00000440756.2_Silent_p.H101H|PSD3_ENST00000523619.1_Silent_p.H36H	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	101					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.H101H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGAGCCCAGAGTGGCAGCCAG	0.522																																						uc003wza.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(301-303)CAC>CAT		ADP-ribosylation factor guanine nucleotide							48.0	50.0	49.0					8																	18730071		1905	4125	6030	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18730071G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.303C>T	8.37:g.18730071G>A							p.H101H	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	406	-			101					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.303C>T	CCDS43720.1																																																																																				PASS	0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		11	15	11	15	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21856683	21856683	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:21856683C>A	ENST00000252512.9	+	23	2610	c.2510C>A	c.(2509-2511)tCc>tAc	p.S837Y	XPO7_ENST00000434536.1_Missense_Mutation_p.S846Y|XPO7_ENST00000433566.4_Missense_Mutation_p.S838Y	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	837					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.S837Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATCTGCTTCTCCATGCTGAAG	0.502																																						uc003xaa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(2509-2511)TCC>TAC		exportin 7 isoform b							268.0	262.0	264.0					8																	21856683		2103	4242	6345	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21856683C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2510C>A	8.37:g.21856683C>A	ENSP00000252512:p.Ser837Tyr					XPO7_uc010lti.2_Missense_Mutation_p.S846Y|XPO7_uc010ltk.2_Missense_Mutation_p.S838Y	p.S837Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	23	2612	+			837					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2510C>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238814	0.79800	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.68331	-0.32;-0.32;-0.32	5.83	5.83	0.93111	Armadillo-type fold (1);	0.101272	0.64402	D	0.000001	T	0.74786	0.3762	M	0.83118	2.625	0.80722	D	1	P;B;B	0.40398	0.716;0.08;0.129	B;B;B	0.41988	0.372;0.139;0.281	T	0.77731	-0.2478	10	0.56958	D	0.05	-13.7121	19.7825	0.96422	0.0:1.0:0.0:0.0	.	838;846;837	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Y	846;837;838	ENSP00000404853:S846Y;ENSP00000252512:S837Y;ENSP00000410249:S838Y	ENSP00000252512:S837Y	S	+	2	0	XPO7	21912629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.774000	0.95407	0.650000	0.86243	TCC		PASS	0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		8	304	8	304	---	---	---	---
SLC25A37	51312	broad.mit.edu	37	8	23423786	23423786	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:23423786G>C	ENST00000519973.1	+	2	574	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	126					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.E126Q(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TGCCTGCTATGAAAACATGAA	0.488																																						uc003xdo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GAA>CAA		solute carrier family 25, member 37							82.0	79.0	80.0					8																	23423786		1955	4142	6097	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423786G>C	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.376G>C	8.37:g.23423786G>C	ENSP00000429200:p.Glu126Gln					SLC25A37_uc003xdn.1_Missense_Mutation_p.E126Q|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank	p.E126Q	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	529	+		Prostate(55;0.114)	126			Solcar 1.		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.376G>C	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003016	0.93287	.	.	ENSG00000147454	ENST00000519973;ENST00000523930	D;D	0.83591	-1.74;-1.74	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95147	0.8269	10	0.87932	D	0	-1.3418	18.2734	0.90076	0.0:0.0:1.0:0.0	.	126;126	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	Q	126;107	ENSP00000429200:E126Q;ENSP00000428066:E107Q	ENSP00000290075:E126Q	E	+	1	0	SLC25A37	23479731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.447000	0.97595	2.652000	0.90054	0.655000	0.94253	GAA		PASS	0.488	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		17	64	17	64	---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737097	27737097	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:27737097C>G	ENST00000354914.3	-	8	1825	c.1340G>C	c.(1339-1341)cGa>cCa	p.R447P	SCARA5_ENST00000380385.2_Missense_Mutation_p.R222P	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	447	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)	p.R447P(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTGCCCGAATCGAGCTGTGCG	0.622																																						uc003xgj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1339-1341)CGA>CCA		scavenger receptor class A, member 5							142.0	110.0	121.0					8																	27737097		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737097C>G	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1340G>C	8.37:g.27737097C>G	ENSP00000346990:p.Arg447Pro					SCARA5_uc010luz.2_Missense_Mutation_p.R222P	p.R447P	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1780	-		Ovarian(32;0.0218)	447			SRCR.|Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1340G>C	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970184	0.34754	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.44482	0.92;0.92	4.87	1.96	0.26148	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.165261	0.40554	N	0.001077	T	0.38665	0.1049	L	0.38531	1.155	0.80722	D	1	P;P	0.47409	0.729;0.895	B;P	0.50352	0.401;0.638	T	0.15407	-1.0438	10	0.59425	D	0.04	.	7.6192	0.28175	0.0:0.6991:0.0:0.3009	.	222;447	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	P	447;222	ENSP00000346990:R447P;ENSP00000369746:R222P	ENSP00000346990:R447P	R	-	2	0	SCARA5	27793016	0.174000	0.23070	0.360000	0.25837	0.505000	0.33919	1.411000	0.34702	0.536000	0.28733	0.591000	0.81541	CGA		PASS	0.622	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		10	65	10	65	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55539799	55539799	+	Silent	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:55539799T>C	ENST00000220676.1	+	4	3505	c.3357T>C	c.(3355-3357)tcT>tcC	p.S1119S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1119					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1119S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTTCATTCTGCAATATGTA	0.423																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(3355-3357)TCT>TCC		retinitis pigmentosa RP1 protein							71.0	63.0	66.0					8																	55539799		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539799T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3357T>C	8.37:g.55539799T>C						RP1_uc011ldy.1_Intron	p.S1119S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3505	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1119						Silent	SNP	ENST00000220676.1	37	c.3357T>C	CCDS6160.1																																																																																				PASS	0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	33	14	33	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61749418	61749418	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:61749418C>A	ENST00000423902.2	+	17	4511	c.4032C>A	c.(4030-4032)ctC>ctA	p.L1344L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1344	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1344L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGGCAACCTCCGCCAGGCAG	0.498																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4030-4032)CTC>CTA		chromodomain helicase DNA binding protein 7							166.0	160.0	162.0					8																	61749418		1972	4173	6145	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61749418C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4032C>A	8.37:g.61749418C>A							p.L1344L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		17	4509	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1344			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4032C>A	CCDS47865.1																																																																																				PASS	0.498	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	167	7	167	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618478	77618478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:77618478C>T	ENST00000521891.2	+	2	2603	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q719*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q719*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q719*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	719					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q719*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTCATATGCAGTCGGACAA	0.517										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2155-2157)CAG>TAG		zinc finger homeodomain 4							66.0	69.0	68.0					8																	77618478		2198	4298	6496	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618478C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2155C>T	8.37:g.77618478C>T	ENSP00000430497:p.Gln719*	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q719*	p.Q719*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2542	+			719			C2H2-type 3.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.2155C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	37	6.335668	0.97485	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.99	4.99	0.66335	.	0.000000	0.42294	U	0.000722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.8304	0.92137	0.0:1.0:0.0:0.0	.	.	.	.	X	719	.	ENSP00000050961:Q719X	Q	+	1	0	ZFHX4	77781033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.746000	0.94184	0.650000	0.86243	CAG		PASS	0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		19	36	19	36	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89086966	89086966	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:89086966C>G	ENST00000286614.6	-	7	1370	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	363					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q363H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GCCAAAACCACTGGTCCTGCA	0.493																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1087-1089)CAG>CAC		matrix metalloproteinase 16 isoform 1							152.0	144.0	147.0					8																	89086966		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89086966C>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1089G>C	8.37:g.89086966C>G	ENSP00000286614:p.Gln363His					MMP16_uc003yec.2_Missense_Mutation_p.Q363H	p.Q363H	NM_005941	NP_005932	P51512	MMP16_HUMAN			7	1371	-			363			Extracellular (Potential).|Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1089G>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839192	0.32513	.	.	ENSG00000156103	ENST00000286614	T	0.02472	4.28	4.88	3.09	0.35607	Hemopexin/matrixin (2);	0.222920	0.47455	D	0.000228	T	0.03348	0.0097	L	0.45352	1.415	0.47308	D	0.999386	B;B	0.10296	0.003;0.001	B;B	0.15052	0.011;0.012	T	0.42292	-0.9460	10	0.62326	D	0.03	.	8.4998	0.33150	0.0:0.63:0.0:0.37	.	363;363	P51512-2;P51512	.;MMP16_HUMAN	H	363	ENSP00000286614:Q363H	ENSP00000286614:Q363H	Q	-	3	2	MMP16	89156082	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.665000	0.25083	0.579000	0.29504	-0.781000	0.03364	CAG		PASS	0.493	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		51	90	51	90	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103299702	103299702	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:103299702C>G	ENST00000520539.1	-	37	5522	c.4916G>C	c.(4915-4917)cGc>cCc	p.R1639P	UBR5_ENST00000220959.4_Missense_Mutation_p.R1639P|UBR5_ENST00000521922.1_Missense_Mutation_p.R1633P|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1639					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)	p.R1639P(1)		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)			AACGCTTCTGCGCCCACTAGC	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4915-4917)CGC>CCC		ubiquitin protein ligase E3 component n-recognin							200.0	148.0	165.0					8																	103299702		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.chr8:103299702C>G	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.4916G>C	8.37:g.103299702C>G	ENSP00000429084:p.Arg1639Pro					UBR5_uc003yks.1_Missense_Mutation_p.R1639P	p.R1639P	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		37	4949	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1639					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4916G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220643	0.95139	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.46451	0.88;0.87;0.87	5.96	5.09	0.68999	.	0.056256	0.64402	D	0.000001	T	0.37544	0.1007	N	0.22421	0.69	0.80722	D	1	P;P	0.49862	0.929;0.929	P;P	0.46510	0.519;0.519	T	0.33828	-0.9853	10	0.72032	D	0.01	.	15.1291	0.72507	0.0:0.9325:0.0:0.0675	.	1633;1639	E7EMW7;O95071	.;UBR5_HUMAN	P	1639;1639;1633	ENSP00000429084:R1639P;ENSP00000220959:R1639P;ENSP00000427819:R1633P	ENSP00000220959:R1639P	R	-	2	0	UBR5	103368878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	1.539000	0.49286	0.655000	0.94253	CGC		PASS	0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		25	40	25	40	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109215290	109215290	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:109215290C>A	ENST00000220849.5	-	12	1283	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	EIF3E_ENST00000519517.1_5'Flank|EIF3E_ENST00000519030.1_Missense_Mutation_p.K314N	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.K407N(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GGCTTTTGGTCTTTTCAATCA	0.388																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1219-1221)AAG>AAT		eukaryotic translation initiation factor 3,							156.0	141.0	146.0					8																	109215290		2203	4297	6500	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109215290C>A	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1221G>T	8.37:g.109215290C>A	ENSP00000220849:p.Lys407Asn					EIF3E_uc003ymt.2_Missense_Mutation_p.K358N|EIF3E_uc003ymv.2_Missense_Mutation_p.K314N	p.K407N	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		12	1249	-			407			Sufficient for interaction with MCM7.			Missense_Mutation	SNP	ENST00000220849.5	37	c.1221G>T	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.685186|3.685186	0.68157|0.68157	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000522352|ENST00000220849;ENST00000519030	.|T;T	.|0.54866	.|0.55;0.58	5.7|5.7	3.92|3.92	0.45320|0.45320	.|Proteasome component (PCI) domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.28385	.|0.089	T|T	0.35176|0.35176	-0.9799|-0.9799	5|10	.|0.44086	.|T	.|0.13	-23.5023|-23.5023	12.0842|12.0842	0.53688|0.53688	0.0:0.8617:0.0:0.1383|0.0:0.8617:0.0:0.1383	.|.	.|407	.|P60228	.|EIF3E_HUMAN	Y|N	118|407;314	.|ENSP00000220849:K407N;ENSP00000428796:K314N	.|ENSP00000220849:K407N	D|K	-|-	1|3	0|2	EIF3E|EIF3E	109284466|109284466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.047000|1.047000	0.30367|0.30367	0.776000|0.776000	0.33473|0.33473	-0.224000|-0.224000	0.12420|0.12420	GAC|AAG		PASS	0.388	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		34	48	34	48	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124146370	124146370	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:124146370G>T	ENST00000287380.1	+	17	2513	c.2423G>T	c.(2422-2424)cGa>cTa	p.R808L	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R808L|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R362L|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R703L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R685L	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	808						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.R808L(1)									ATGAGAGATCGAGAAATTGCT	0.328																																						uc003ypp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2422-2424)CGA>CTA		WD repeat domain 67 isoform 1							92.0	97.0	95.0					8																	124146370		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124146370G>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2423G>T	8.37:g.124146370G>T	ENSP00000287380:p.Arg808Leu					WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R698L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R442L|WDR67_uc003ypt.1_Missense_Mutation_p.R265L|WDR67_uc003ypu.1_Missense_Mutation_p.R265L	p.R808L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		17	2513	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		808			Potential.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2423G>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615608	0.46631	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	D;T;D;D;T	0.85556	-2.0;-0.2;-2.0;-2.0;0.99	5.49	-4.45	0.03546	.	0.895784	0.09777	N	0.757192	T	0.74291	0.3697	L	0.27053	0.805	0.80722	D	1	B;B;B	0.24651	0.022;0.065;0.108	B;B;B	0.22601	0.028;0.04;0.039	T	0.54655	-0.8261	10	0.66056	D	0.02	-0.0863	11.792	0.52075	0.5645:0.0:0.4355:0.0	.	808;703;808	Q96DN5-2;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	L	808;808;703;685;362	ENSP00000287380:R808L;ENSP00000308358:R808L;ENSP00000429334:R703L;ENSP00000430628:R685L;ENSP00000429494:R362L	ENSP00000287380:R808L	R	+	2	0	WDR67	124215551	0.603000	0.26924	0.965000	0.40720	0.915000	0.54546	-0.078000	0.11375	-0.720000	0.04935	-0.290000	0.09829	CGA		PASS	0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		6	134	6	134	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143995723	143995723	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:143995723A>G	ENST00000323110.2	-	5	913	c.911T>C	c.(910-912)aTc>aCc	p.I304T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	304					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)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.I304T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GTTGGCCTTGATGGCTTCTAG	0.587									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)ATC>ACC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						162.0	136.0	145.0					8																	143995723		2203	4300	6503	SO:0001583	missense	1585	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|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995723A>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.911T>C	8.37:g.143995723A>G	ENSP00000325822:p.Ile304Thr						p.I304T	NM_000498	NP_000489	P19099	C11B2_HUMAN			5	914	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)		304					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.911T>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	16.18	3.050137	0.55218	.	.	ENSG00000179142	ENST00000323110	T	0.72942	-0.7	3.83	3.83	0.44106	.	0.133758	0.33732	N	0.004612	D	0.82572	0.5066	M	0.83603	2.65	0.47778	D	0.999516	D	0.67145	0.996	D	0.70487	0.969	D	0.84040	0.0364	10	0.56958	D	0.05	.	10.6117	0.45425	1.0:0.0:0.0:0.0	.	304	P19099	C11B2_HUMAN	T	304	ENSP00000325822:I304T	ENSP00000325822:I304T	I	-	2	0	CYP11B2	143992725	1.000000	0.71417	0.994000	0.49952	0.477000	0.33069	6.812000	0.75226	1.609000	0.50190	0.260000	0.18958	ATC		PASS	0.587	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			16	26	16	26	---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145058587	145058587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:145058587G>A	ENST00000313028.7	-	6	1565	c.1471C>T	c.(1471-1473)Cag>Tag	p.Q491*	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Nonsense_Mutation_p.Q503*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.Q491*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	491					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q491*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGAAGCCTGGGCTCCACAG	0.602																																						uc003zal.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1471-1473)CAG>TAG		poly (ADP-ribose) polymerase family, member 10							18.0	21.0	20.0					8																	145058587		2199	4287	6486	SO:0001587	stop_gained	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058587G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1471C>T	8.37:g.145058587G>A	ENSP00000325618:p.Gln491*					PARP10_uc003zak.3_Nonsense_Mutation_p.Q197*|PARP10_uc011lku.1_Nonsense_Mutation_p.Q503*|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Nonsense_Mutation_p.Q491*	p.Q491*	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1579	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		491					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	ENST00000313028.7	37	c.1471C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677007	0.68042	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	3.82	2.9	0.33743	.	1.765760	0.03613	N	0.235053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1657	0.20388	0.0:0.1999:0.5751:0.225	.	.	.	.	X	491;197;491;503	.	ENSP00000325618:Q491X	Q	-	1	0	PARP10	145130575	0.066000	0.20996	0.625000	0.29200	0.060000	0.15804	1.690000	0.37711	0.750000	0.32877	0.645000	0.84053	CAG		PASS	0.602	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		8	17	8	17	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6604779	6604779	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:6604779C>T	ENST00000321612.6	-	7	1017	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	289					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)	p.L289L(1)		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)	CACAGCAGGCCAGGCTCTAGA	0.502																																						uc003zkc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(865-867)CTG>CTA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						72.0	68.0	69.0					9																	6604779		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6604779C>T	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.867G>A	9.37:g.6604779C>T							p.L289L	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	7	1060	-		Acute lymphoblastic leukemia(23;0.161)	289					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.867G>A	CCDS34987.1																																																																																				PASS	0.502	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		89	53	89	53	---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19058888	19058888	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:19058888G>T	ENST00000380502.3	-	16	2344	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	HAUS6_ENST00000380496.1_Missense_Mutation_p.P490H	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	626					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)		p.P626H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGCAACACAGGTAATGATTC	0.363																																						uc003znk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1876-1878)CCT>CAT		HAUS augmin-like complex, subunit 6							72.0	65.0	67.0					9																	19058888		2202	4297	6499	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058888G>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1877C>A	9.37:g.19058888G>T	ENSP00000369871:p.Pro626His					HAUS6_uc011lmz.1_Missense_Mutation_p.P346H|HAUS6_uc003znl.1_Missense_Mutation_p.P490H	p.P626H	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			16	2130	-			626					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1877C>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	5.474	0.272474	0.10349	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.52057	1.71;1.68;0.68	4.64	3.72	0.42706	.	0.397738	0.23947	N	0.042981	T	0.54398	0.1856	L	0.60455	1.87	0.09310	N	0.999999	B;D;P	0.56287	0.073;0.975;0.911	B;P;P	0.54100	0.02;0.742;0.621	T	0.47522	-0.9111	10	0.29301	T	0.29	-2.9595	13.115	0.59295	0.0:0.1633:0.8367:0.0	.	591;490;626	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	H	626;490;142	ENSP00000369871:P626H;ENSP00000369865:P490H;ENSP00000409615:P142H	ENSP00000369865:P490H	P	-	2	0	HAUS6	19048888	0.018000	0.18449	0.133000	0.22050	0.033000	0.12548	1.397000	0.34543	1.217000	0.43442	0.467000	0.42956	CCT		PASS	0.363	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		5	21	5	21	---	---	---	---
SMU1	55234	broad.mit.edu	37	9	33053169	33053169	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:33053169C>A	ENST00000397149.3	-	10	1292	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	SMU1_ENST00000536631.1_Silent_p.V253V	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V414V(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TGTTGCACACCACAAAGTGCT	0.483																																						uc003zsf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)GTG>GTT		smu-1 suppressor of mec-8 and unc-52 homolog							180.0	168.0	172.0					9																	33053169		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33053169C>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1242G>T	9.37:g.33053169C>A						SMU1_uc010mjo.1_Silent_p.V414V|SMU1_uc010mjp.1_Intron|SMU1_uc011lnu.1_Silent_p.V253V	p.V414V	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	10	1350	-			414			WD 5.		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.1242G>T	CCDS6534.1																																																																																				PASS	0.483	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		6	127	6	127	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73736162	73736162	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:73736162G>T	ENST00000377111.2	-	1	352	c.109C>A	c.(109-111)Cga>Aga	p.R37R	TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377110.3_Silent_p.R37R|TRPM3_ENST00000357533.2_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	37					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R37R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTAGGGGTCGAGGAGCATCA	0.498																																						uc004aid.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(109-111)CGA>AGA		transient receptor potential cation channel,							92.0	94.0	94.0					9																	73736162		1947	4141	6088	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73736162G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.109C>A	9.37:g.73736162G>T						TRPM3_uc004aic.2_Silent_p.R37R|TRPM3_uc010mor.2_Silent_p.R37R|TRPM3_uc004aii.2_Intron	p.R37R	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			1	353	-			37			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.109C>A																																																																																					PASS	0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		5	65	5	65	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79896842	79896842	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:79896842G>T	ENST00000360280.3	+	28	3224	c.2964G>T	c.(2962-2964)aaG>aaT	p.K988N	VPS13A_ENST00000357409.5_Splice_Site_p.K988N|VPS13A_ENST00000376634.4_Splice_Site_p.K988N|VPS13A_ENST00000376636.3_Splice_Site_p.K988N|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	988					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K988N(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATTGATTAAGGTATGAGTAG	0.259																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(2962-2964)AAG>AAT		vacuolar protein sorting 13A isoform A							56.0	54.0	54.0					9																	79896842		2198	4281	6479	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79896842G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2964+1G>T	9.37:g.79896842G>T						VPS13A_uc004akp.3_Missense_Mutation_p.K988N|VPS13A_uc004akq.3_Missense_Mutation_p.K988N|VPS13A_uc004aks.2_Missense_Mutation_p.K988N	p.K988N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			28	3224	+			988					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2964G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960990	0.53400	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.56	4.56	0.56223	.	0.055973	0.64402	D	0.000001	T	0.44159	0.1280	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.89917	0.729;0.999;1.0;1.0	B;D;D;D	0.79108	0.32;0.947;0.992;0.992	T	0.26916	-1.0089	10	0.20519	T	0.43	.	15.2659	0.73660	0.0:0.0:1.0:0.0	.	988;988;988;988	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	988	ENSP00000365821:K988N;ENSP00000365823:K988N;ENSP00000353422:K988N;ENSP00000349985:K988N	ENSP00000349985:K988N	K	+	3	2	VPS13A	79086662	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.647000	0.74354	2.363000	0.80096	0.563000	0.77884	AAG		PASS	0.259	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Missense_Mutation	13	2	13	2	---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95400369	95400369	+	Missense_Mutation	SNP	C	C	T	rs148738677		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:95400369C>T	ENST00000287996.3	-	9	1106	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	277			R -> W (in dbSNP:rs2277168).		inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.R277Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGTGCCTGCCCGGCCCTTGTC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14185	0.0		0.0	False		,,,				2504	0.001					uc004asl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(829-831)CGG>CAG		inositol 1,3,4,5,6-pentakisphosphate 2-kinase		C	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	23.0	25.0	24.0		830	2.2	0.5	9	dbSNP_134	24	0,8598		0,0,4299	no	missense	IPPK	NM_022755.5	43	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	277/492	95400369	1,13001	2202	4299	6501	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400369C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.830G>A	9.37:g.95400369C>T	ENSP00000287996:p.Arg277Gln					IPPK_uc004ask.1_5'Flank	p.R277Q	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			9	1107	-			277					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.830G>A	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.802106	0.31869	2.27E-4	0.0	ENSG00000127080	ENST00000287996	T	0.31510	1.49	5.11	2.18	0.27775	.	0.376564	0.27275	N	0.020120	T	0.22742	0.0549	L	0.49126	1.545	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.06607	-1.0817	10	0.19590	T	0.45	-8.0031	6.3937	0.21601	0.2608:0.5995:0.0:0.1397	.	277	Q9H8X2	IPPK_HUMAN	Q	277	ENSP00000287996:R277Q	ENSP00000287996:R277Q	R	-	2	0	IPPK	94440190	0.997000	0.39634	0.469000	0.27204	0.371000	0.29859	2.677000	0.46892	0.243000	0.21327	0.462000	0.41574	CGG		PASS	0.682	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		7	4	7	4	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109685872	109685872	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:109685872G>C	ENST00000277225.5	+	2	497	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.E70Q|RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.E70Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	70					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E70Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCATTGCAGAAGATTTATC	0.403																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(208-210)GAA>CAA		zinc finger protein 462							101.0	100.0	101.0					9																	109685872		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109685872G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.208G>C	9.37:g.109685872G>C	ENSP00000277225:p.Glu70Gln					ZNF462_uc010mto.2_5'Flank|ZNF462_uc004bda.2_5'Flank	p.E70Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			2	497	+			70					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.208G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014461	0.54468	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05649	3.41;3.85	6.17	6.17	0.99709	.	0.256877	0.40222	N	0.001152	T	0.06690	0.0171	N	0.24115	0.695	0.80722	D	1	P	0.38395	0.629	B	0.32465	0.146	T	0.27839	-1.0062	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	70	Q96JM2	ZN462_HUMAN	Q	70	ENSP00000277225:E70Q;ENSP00000414570:E70Q	ENSP00000277225:E70Q	E	+	1	0	ZNF462	108725693	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.204000	0.77872	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.403	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	57	7	57	---	---	---	---
FNBP1	23048	broad.mit.edu	37	9	132689609	132689609	+	Silent	SNP	C	C	T	rs41279170		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:132689609C>T	ENST00000446176.2	-	8	840	c.654G>A	c.(652-654)gaG>gaA	p.E218E	FNBP1_ENST00000478129.1_5'Flank|FNBP1_ENST00000355681.3_Silent_p.E218E|FNBP1_ENST00000420781.1_Silent_p.E218E	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	218	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E218E(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTTCCTCCATCTCTTGTATTT	0.393			T	MLL	AML																																	uc004byw.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		1	Substitution - coding silent(1)		lung(1)		0						c.(652-654)GAG>GAA		formin binding protein 1							269.0	267.0	267.0					9																	132689609		1867	4114	5981	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132689609C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.654G>A	9.37:g.132689609C>T						FNBP1_uc011mbv.1_Silent_p.E218E|FNBP1_uc011mbw.1_Silent_p.E218E|FNBP1_uc004bza.2_Silent_p.E218E|FNBP1_uc004byz.1_Silent_p.E218E|FNBP1_uc004byx.1_Silent_p.E139E|FNBP1_uc004byy.1_Silent_p.E139E	p.E218E	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	8	873	-		Ovarian(14;0.000536)	218			Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.654G>A	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902909	0.17760	.	.	ENSG00000187239	ENST00000449089	.	.	.	6.03	5.12	0.69794	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62006	-0.6945	4	.	.	.	-43.9704	11.2022	0.48747	0.1437:0.7181:0.1383:0.0	.	.	.	.	K	180	.	.	R	-	2	0	FNBP1	131729430	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.747000	0.38298	1.503000	0.48686	0.557000	0.71058	AGA		PASS	0.393	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			38	137	38	137	---	---	---	---
C9orf171	389799	broad.mit.edu	37	9	135357713	135357713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:135357713C>A	ENST00000343036.2	+	2	260	c.212C>A	c.(211-213)tCg>tAg	p.S71*	C9orf171_ENST00000393216.2_Intron|C9orf171_ENST00000393215.3_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	71								p.S71*(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGCCCGGCCTCGGTGGGAACC	0.522																																						uc004cbn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(211-213)TCG>TAG		hypothetical protein LOC389799							93.0	87.0	89.0					9																	135357713		2203	4300	6503	SO:0001587	stop_gained	389799							g.chr9:135357713C>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.212C>A	9.37:g.135357713C>A	ENSP00000343290:p.Ser71*					C9orf171_uc004cbo.2_Intron	p.S71*	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			2	260	+			71					Q147X1	Nonsense_Mutation	SNP	ENST00000343036.2	37	c.212C>A	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268285	0.40095	.	.	ENSG00000188523	ENST00000343036	.	.	.	3.62	-3.52	0.04682	.	0.467716	0.17470	N	0.173140	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	2.6162	0.04905	0.1358:0.2272:0.4436:0.1935	.	.	.	.	X	71	.	ENSP00000343290:S71X	S	+	2	0	C9orf171	134347534	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.579000	0.00907	-0.790000	0.04492	0.655000	0.94253	TCG		PASS	0.522	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		4	35	4	35	---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137802992	137802992	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:137802992G>T	ENST00000371806.3	-	8	811	c.720C>A	c.(718-720)gtC>gtA	p.V240V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	240	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.V240V(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CACTGCCCCCGACAAAGGCTC	0.582																																						uc004cfi.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(718-720)GTC>GTA		ficolin 1 precursor							210.0	202.0	205.0					9																	137802992		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137802992G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.720C>A	9.37:g.137802992G>T							p.V240V	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	812	-		Myeloproliferative disorder(178;0.0333)	240			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.720C>A	CCDS6985.1																																																																																				PASS	0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		5	150	5	150	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5494346	5494346	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:5494346G>C	ENST00000355029.4	+	5	531	c.389G>C	c.(388-390)aGa>aCa	p.R130T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R76T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	130					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R130T(1)|p.R76T(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGTGACCACAGATCCCCAGCC	0.428																																						uc001iia.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(388-390)AGA>ACA		neuroepithelial cell transforming gene 1 isoform							60.0	58.0	59.0					10																	5494346		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5494346G>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.389G>C	10.37:g.5494346G>C	ENSP00000347134:p.Arg130Thr					NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.R76T|NET1_uc010qas.1_5'UTR	p.R130T	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			5	527	+			130					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.389G>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210914	0.58343	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.12879	2.75;2.64	5.53	5.53	0.82687	.	0.000000	0.46145	D	0.000320	T	0.23806	0.0576	M	0.67397	2.05	0.80722	D	1	P;P	0.41420	0.616;0.749	B;P	0.48982	0.258;0.597	T	0.00778	-1.1570	10	0.87932	D	0	-24.3465	8.6281	0.33901	0.1615:0.0:0.8385:0.0	.	76;130	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	130;76	ENSP00000347134:R130T;ENSP00000369717:R76T	ENSP00000347134:R130T	R	+	2	0	NET1	5484346	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.155000	0.64900	2.585000	0.87301	0.650000	0.86243	AGA		PASS	0.428	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		5	16	5	16	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6549443	6549443	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:6549443G>C	ENST00000263125.5	-	4	433	c.334C>G	c.(334-336)Caa>Gaa	p.Q112E	PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Missense_Mutation_p.Q112E	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	112	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q112E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATTCGGCCTTGAGGTTTCAGC	0.478																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(334-336)CAA>GAA		protein kinase C, theta							287.0	254.0	265.0					10																	6549443		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6549443G>C	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.334C>G	10.37:g.6549443G>C	ENSP00000263125:p.Gln112Glu					PRKCQ_uc009xim.1_Missense_Mutation_p.Q112E|PRKCQ_uc001iji.1_Missense_Mutation_p.Q145E|PRKCQ_uc009xin.1_Missense_Mutation_p.Q76E|PRKCQ_uc010qax.1_Intron	p.Q112E	NM_006257	NP_006248	Q04759	KPCT_HUMAN			4	409	-			112			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.334C>G	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191428	0.38707	.	.	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.66995	-0.24;-0.19	5.14	4.23	0.50019	C2 calcium/lipid-binding domain, CaLB (1);	0.059016	0.64402	N	0.000001	T	0.63189	0.2490	M	0.66939	2.045	0.80722	D	1	B;B	0.26902	0.003;0.163	B;B	0.26416	0.007;0.069	T	0.59825	-0.7381	10	0.11794	T	0.64	.	16.0229	0.80512	0.0:0.1347:0.8653:0.0	.	112;112	Q04759-2;Q04759	.;KPCT_HUMAN	E	112	ENSP00000263125:Q112E;ENSP00000380361:Q112E	ENSP00000263125:Q112E	Q	-	1	0	PRKCQ	6589449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	1.262000	0.44165	0.563000	0.77884	CAA		PASS	0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		37	117	37	117	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25888200	25888200	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:25888200G>T	ENST00000376351.3	+	11	4004	c.3645G>T	c.(3643-3645)gtG>gtT	p.V1215V	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1215					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.V1215V(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						GTTTTAAAGTGTAGCATCTCC	0.418																																						uc001isj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3643-3645)GTG>GTT		G protein-coupled receptor 158 precursor							38.0	45.0	42.0					10																	25888200		2203	4297	6500	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25888200G>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.3645G>T	10.37:g.25888200G>T						GPR158_uc001isk.2_Silent_p.V590V	p.V1215V	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3705	+			1215			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.3645G>T	CCDS31166.1																																																																																				PASS	0.418	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		12	32	12	32	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29821624	29821624	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:29821624G>T	ENST00000355867.4	-	8	2424	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.Q558K	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	558					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.Q558K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCAAGGCCTGGAGCTGAGGG	0.572																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1672-1674)CAG>AAG		supervillin isoform 2							113.0	115.0	114.0					10																	29821624		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821624G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1672C>A	10.37:g.29821624G>T	ENSP00000348128:p.Gln558Lys					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.Q558K	p.Q558K	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2425	-		Breast(68;0.103)	558					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1672C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629655	0.46944	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.24538	1.85;1.85	5.8	4.88	0.63580	.	1.080180	0.07154	N	0.849621	T	0.31199	0.0789	M	0.63428	1.95	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.05683	-1.0870	9	.	.	.	-11.7188	13.1522	0.59496	0.0:0.3846:0.6154:0.0	.	558	O95425	SVIL_HUMAN	K	558	ENSP00000364547:Q558K;ENSP00000348128:Q558K	.	Q	-	1	0	SVIL	29861630	0.991000	0.36638	0.999000	0.59377	0.548000	0.35241	3.075000	0.50073	2.748000	0.94277	0.655000	0.94253	CAG		PASS	0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			5	70	5	70	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31812972	31812972	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:31812972G>C	ENST00000320985.10	+	8	2823	c.2713G>C	c.(2713-2715)Gct>Cct	p.A905P	ZEB1_ENST00000446923.2_Missense_Mutation_p.A889P|ZEB1_ENST00000361642.5_Missense_Mutation_p.A906P|ZEB1_ENST00000542815.3_Missense_Mutation_p.A838P|ZEB1_ENST00000560721.2_Missense_Mutation_p.A885P			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	905			A -> T (in FECD6). {ECO:0000269|PubMed:20036349}.		cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A905P(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGGAATGTATGCTTGTGATTT	0.368																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(2713-2715)GCT>CCT		zinc finger E-box binding homeobox 1 isoform b							121.0	121.0	121.0					10																	31812972		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31812972G>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2713G>C	10.37:g.31812972G>C	ENSP00000319248:p.Ala905Pro					ZEB1_uc001ivr.3_Missense_Mutation_p.A687P|ZEB1_uc010qee.1_Missense_Mutation_p.A687P|ZEB1_uc010qef.1_Missense_Mutation_p.A687P|ZEB1_uc009xlk.1_Missense_Mutation_p.A687P|ZEB1_uc001ivt.3_Missense_Mutation_p.A687P|ZEB1_uc001ivu.3_Missense_Mutation_p.A906P|ZEB1_uc001ivv.3_Missense_Mutation_p.A885P|ZEB1_uc010qeh.1_Missense_Mutation_p.A838P|ZEB1_uc009xlp.2_Missense_Mutation_p.A889P	p.A905P	NM_030751	NP_110378	P37275	ZEB1_HUMAN			8	2776	+		Prostate(175;0.0156)	905		A -> T (in FECD6).	C2H2-type 5.		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2713G>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551969	0.86127	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.454035	0.20802	N	0.085404	T	0.27900	0.0687	L	0.53249	1.67	0.80722	D	1	P;D;B;D;D	0.76494	0.694;0.999;0.026;0.999;0.999	B;D;B;D;D	0.83275	0.381;0.996;0.059;0.996;0.996	T	0.00097	-1.2071	10	0.56958	D	0.05	-15.5808	19.8685	0.96840	0.0:0.0:1.0:0.0	.	838;889;885;906;905	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	P	687;905;906;900;838;905;885;796;889	ENSP00000444282:A687P;ENSP00000354487:A906P;ENSP00000444891:A838P;ENSP00000319248:A905P;ENSP00000391612:A889P	ENSP00000319248:A905P	A	+	1	0	ZEB1	31852978	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.863000	0.87023	2.715000	0.92844	0.585000	0.79938	GCT		PASS	0.368	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		10	51	10	51	---	---	---	---
RPP30	10556	broad.mit.edu	37	10	92660332	92660332	+	Missense_Mutation	SNP	A	A	G	rs139597628		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:92660332A>G	ENST00000371703.3	+	11	974	c.703A>G	c.(703-705)Aga>Gga	p.R235G	RPP30_ENST00000413330.1_Missense_Mutation_p.R235G|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	235					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.R235G(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TACAGAAACTAGAAAAACTGC	0.383																																						uc009xtx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(703-705)AGA>GGA		ribonuclease P/MRP 30kDa subunit isoform b		A	GLY/ARG,GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	169.0	185.0	180.0		703,703	6.1	1.0	10	dbSNP_134	180	0,8600		0,0,4300	no	missense,missense	RPP30	NM_001104546.1,NM_006413.4	125,125	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	235/323,235/269	92660332	1,13005	2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92660332A>G	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.703A>G	10.37:g.92660332A>G	ENSP00000360768:p.Arg235Gly					RPP30_uc001khd.2_Missense_Mutation_p.R235G	p.R235G	NM_006413	NP_006404	P78346	RPP30_HUMAN			11	738	+			235					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.703A>G	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048765	0.75846	2.27E-4	0.0	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000414836	T;T	0.69435	-0.4;-0.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.963;0.973	T	0.82442	-0.0455	10	0.87932	D	0	-12.7013	14.5871	0.68335	1.0:0.0:0.0:0.0	.	235;235	P78346;E9PB02	RPP30_HUMAN;.	G	235;235;225;179	ENSP00000360768:R235G;ENSP00000389182:R235G	ENSP00000360768:R235G	R	+	1	2	RPP30	92650312	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.134000	0.57990	2.330000	0.79161	0.477000	0.44152	AGA		PASS	0.383	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		84	50	84	50	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95557020	95557020	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:95557020G>T	ENST00000371418.4	+	8	1394	c.1134G>T	c.(1132-1134)agG>agT	p.R378S	LGI1_ENST00000542308.1_Missense_Mutation_p.R330S|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	378					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.R378S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGTGGTACAGGGACACTGATG	0.418																																						uc001kjc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1132-1134)AGG>AGT		leucine-rich, glioma inactivated 1 precursor							96.0	86.0	89.0					10																	95557020		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557020G>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1134G>T	10.37:g.95557020G>T	ENSP00000360472:p.Arg378Ser					LGI1_uc010qnv.1_Missense_Mutation_p.R330S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	p.R378S	NM_005097	NP_005088	O95970	LGI1_HUMAN			8	1470	+		Colorectal(252;0.124)	378			EAR 4.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1134G>T	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828582	0.50845	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.78364	-1.17;-1.17	4.93	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.84365	0.5456	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	D	0.84499	0.0615	10	0.87932	D	0	-9.2954	3.9436	0.09338	0.3091:0.0:0.6909:0.0	.	330;378	O95970-3;O95970	.;LGI1_HUMAN	S	330;378	ENSP00000440763:R330S;ENSP00000360472:R378S	ENSP00000360472:R378S	R	+	3	2	LGI1	95547010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.250000	0.43178	2.567000	0.86603	0.655000	0.94253	AGG		PASS	0.418	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		5	36	5	36	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95931253	95931253	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:95931253G>T	ENST00000371380.3	+	3	2044	c.1809G>T	c.(1807-1809)gaG>gaT	p.E603D	PLCE1_ENST00000371375.1_Splice_Site_p.E295D|PLCE1_ENST00000371385.3_Splice_Site_p.E295D|PLCE1_ENST00000260766.3_Splice_Site_p.E603D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	603	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)	p.E295D(1)|p.E603D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGTTTAATGAGGTAAGAAGCC	0.453																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1807-1809)GAG>GAT		phospholipase C, epsilon 1 isoform 1							85.0	85.0	85.0					10																	95931253		2000	4166	6166	SO:0001630	splice_region_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.chr10:95931253G>T		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.1809+1G>T	10.37:g.95931253G>T						PLCE1_uc010qnx.1_Missense_Mutation_p.E603D|PLCE1_uc001kjm.2_Missense_Mutation_p.E295D	p.E603D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			4	2443	+		Colorectal(252;0.0458)	603			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1809G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178073	0.94846	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.84	5.84	0.93424	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.060628	0.64402	N	0.000005	T	0.57651	0.2068	M	0.68593	2.085	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.993;0.999	T	0.57004	-0.7885	10	0.72032	D	0.01	.	20.1533	0.98095	0.0:0.0:1.0:0.0	.	603;295;603	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	603;603;295;295	ENSP00000260766:E603D;ENSP00000360431:E603D;ENSP00000360438:E295D;ENSP00000360426:E295D	ENSP00000260766:E603D	E	+	3	2	PLCE1	95921243	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.670000	0.91168	2.758000	0.94735	0.655000	0.94253	GAG		PASS	0.453	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	Missense_Mutation	17	16	17	16	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115350345	115350345	+	IGR	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:115350345G>A	ENST00000351270.3	+	0	3009				NRAP_ENST00000369360.3_Nonsense_Mutation_p.Q1623*|NRAP_ENST00000369358.4_Nonsense_Mutation_p.Q1658*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.Q1615*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q1650*	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.Q1650*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ACATCACTCTGCAGCTGGTGG	0.622																																						uc001laj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4948-4950)CAG>TAG		nebulin-related anchoring protein isoform S							36.0	34.0	35.0					10																	115350345		2203	4300	6503	SO:0001628	intergenic_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115350345G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115350345G>A						NRAP_uc009xyb.2_Nonsense_Mutation_p.Q403*|NRAP_uc001lak.2_Nonsense_Mutation_p.Q1615*|NRAP_uc001lal.3_Nonsense_Mutation_p.Q1650*	p.Q1650*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	40	5112	-		Colorectal(252;0.0233)|Breast(234;0.188)	1650			Nebulin 44.		A8K467|B7Z8U5|F5H5M6|O00663	Nonsense_Mutation	SNP	ENST00000351270.3	37	c.4948C>T	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	46	12.160139	0.99642	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	.	.	.	X	1658;1623;1650;1615;772	.	ENSP00000353078:Q1650X	Q	-	1	0	NRAP	115340335	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	9.835000	0.99442	2.757000	0.94681	0.655000	0.94253	CAG		PASS	0.622	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		5	18	5	18	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115970710	115970710	+	Silent	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:115970710T>C	ENST00000369280.1	+	13	2104	c.1644T>C	c.(1642-1644)tgT>tgC	p.C548C	TDRD1_ENST00000251864.2_Silent_p.C548C|TDRD1_ENST00000369281.2_Silent_p.C548C|TDRD1_ENST00000369282.1_Silent_p.C548C|TDRD1_ENST00000422662.1_Silent_p.C209C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	548	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.C548C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTGATATATGTTGTGCTCAGT	0.353																																						uc001lbg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1642-1644)TGT>TGC		tudor domain containing 1							148.0	130.0	136.0					10																	115970710		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970710T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1644T>C	10.37:g.115970710T>C						TDRD1_uc001lbf.2_Silent_p.C539C|TDRD1_uc001lbh.1_Silent_p.C539C|TDRD1_uc001lbi.1_Silent_p.C539C|TDRD1_uc010qsc.1_Silent_p.C209C|TDRD1_uc001lbj.2_Silent_p.C257C	p.C548C	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	13	1797	+		Colorectal(252;0.172)|Breast(234;0.188)	548			Tudor 2.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.1644T>C																																																																																					PASS	0.353	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			9	41	9	41	---	---	---	---
GLRX3	10539	broad.mit.edu	37	10	131958268	131958268	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:131958268G>A	ENST00000368644.1	+	3	233	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	GLRX3_ENST00000331244.5_Missense_Mutation_p.E71K	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	71	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.E71K(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTGGAAGCTGAAGGTGTTCC	0.318																																						uc001lkm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(211-213)GAA>AAA		glutaredoxin 3							124.0	141.0	135.0					10																	131958268		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131958268G>A	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.211G>A	10.37:g.131958268G>A	ENSP00000357633:p.Glu71Lys					GLRX3_uc001lkn.1_Missense_Mutation_p.E71K|GLRX3_uc001lko.2_RNA	p.E71K	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	3	233	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	71			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.211G>A	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873255	0.91664	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.16196	2.36;2.36	5.74	5.74	0.90152	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68292	-0.5447	10	0.87932	D	0	-31.8753	18.9208	0.92525	0.0:0.0:1.0:0.0	.	71	O76003	GLRX3_HUMAN	K	71	ENSP00000330836:E71K;ENSP00000357633:E71K	ENSP00000330836:E71K	E	+	1	0	GLRX3	131848258	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.767000	0.91732	2.720000	0.93068	0.650000	0.86243	GAA		PASS	0.318	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		8	36	8	36	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862792	5862792	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:5862792C>A	ENST00000329322.5	-	1	335	c.336G>T	c.(334-336)atG>atT	p.M112I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M116I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M116I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGATGCTCTCCATGACAGTGA	0.448																																						uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(334-336)ATG>ATT		olfactory receptor, family 52, subfamily E,							185.0	175.0	178.0					11																	5862792		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862792C>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.336G>T	11.37:g.5862792C>A	ENSP00000328878:p.Met112Ile					TRIM5_uc001mbq.1_Intron	p.M112I	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	336	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	112			Helical; Name=3; (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.336G>T	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015892	0.19355	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.02863	4.13;4.13	3.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.082273	0.52532	D	0.000076	T	0.02230	0.0069	L	0.27975	0.815	0.09310	N	1	B	0.23058	0.079	B	0.19946	0.027	T	0.42999	-0.9418	10	0.62326	D	0.03	.	5.7254	0.18010	0.3068:0.5913:0.0:0.1018	.	112	Q96RD3	O52E6_HUMAN	I	112;116	ENSP00000328878:M112I;ENSP00000369279:M116I	ENSP00000328878:M112I	M	-	3	0	OR52E6	5819368	0.000000	0.05858	0.039000	0.18376	0.905000	0.53344	-3.609000	0.00415	0.161000	0.19458	0.551000	0.68910	ATG		PASS	0.448	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		6	135	6	135	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18637425	18637425	+	Silent	SNP	G	G	T	rs374022129		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:18637425G>T	ENST00000336349.5	-	3	631	c.396C>A	c.(394-396)ctC>ctA	p.L132L	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	132								p.L132L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GATTGTACTCGAGGAATTCAT	0.473																																						uc001moy.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(394-396)CTC>CTA		SPT2, Suppressor of Ty, domain containing 1							175.0	167.0	170.0					11																	18637425		2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18637425G>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.396C>A	11.37:g.18637425G>T						SPTY2D1_uc010rdi.1_Silent_p.L132L	p.L132L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	612	-			132			Potential.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.396C>A	CCDS31441.1																																																																																				PASS	0.473	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		6	91	6	91	---	---	---	---
EHF	26298	broad.mit.edu	37	11	34680224	34680224	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:34680224A>G	ENST00000533754.1	+	8	969	c.752A>G	c.(751-753)aAa>aGa	p.K251R	EHF_ENST00000530286.1_Missense_Mutation_p.K251R|EHF_ENST00000257831.3_Missense_Mutation_p.K251R|EHF_ENST00000450654.2_Missense_Mutation_p.K228R|EHF_ENST00000531794.1_Missense_Mutation_p.K273R					ets homologous factor									p.K251R(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CTATGGGGTAAAAAGAAGAAC	0.453																																						uc001mvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)AAA>AGA		ets homologous factor							90.0	95.0	93.0					11																	34680224		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680224A>G	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.752A>G	11.37:g.34680224A>G	ENSP00000435837:p.Lys251Arg					EHF_uc009yke.1_Missense_Mutation_p.K228R|EHF_uc009ykf.1_Missense_Mutation_p.K254R	p.K251R	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	863	+		all_hematologic(20;0.117)	251			ETS.			Missense_Mutation	SNP	ENST00000533754.1	37	c.752A>G	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.008969	0.54361	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.7	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.040054	0.85682	N	0.000000	T	0.07908	0.0198	N	0.08118	0	0.80722	D	1	B;B;B	0.18610	0.029;0.0;0.001	B;B;B	0.22880	0.042;0.002;0.006	T	0.24905	-1.0147	10	0.33940	T	0.23	.	11.6118	0.51064	0.9306:0.0:0.0694:0.0	.	273;228;251	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	R	251;228;251;251;273	ENSP00000257831:K251R;ENSP00000399733:K228R;ENSP00000433508:K251R;ENSP00000435837:K251R;ENSP00000435835:K273R	ENSP00000257831:K251R	K	+	2	0	EHF	34636800	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	6.319000	0.72871	1.001000	0.39076	0.459000	0.35465	AAA		PASS	0.453	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		33	49	33	49	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36472839	36472839	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:36472839C>A	ENST00000378867.3	+	9	1021	c.666C>A	c.(664-666)ctC>ctA	p.L222L	PRR5L_ENST00000311599.5_Silent_p.L149L|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Silent_p.L222L	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	222					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.L222L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTCCTTTCCTCGGCATCAGCG	0.542																																						uc001mwo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(664-666)CTC>CTA		protor-2 isoform a							162.0	132.0	142.0					11																	36472839		2202	4298	6500	SO:0001819	synonymous_variant	79899							g.chr11:36472839C>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.666C>A	11.37:g.36472839C>A						PRR5L_uc001mwp.2_Silent_p.L222L|PRR5L_uc009ykk.2_Silent_p.L94L|PRR5L_uc010rfc.1_Intron	p.L222L	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN			8	1055	+			222					A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	ENST00000378867.3	37	c.666C>A	CCDS31463.1																																																																																				PASS	0.542	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		5	84	5	84	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47311834	47311834	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:47311834C>A	ENST00000311027.5	+	19	3303	c.3138C>A	c.(3136-3138)acC>acA	p.T1046T	MADD_ENST00000402799.1_Silent_p.T983T|MADD_ENST00000406482.1_Silent_p.T983T|MADD_ENST00000342922.4_Silent_p.T1026T|MADD_ENST00000407859.3_Silent_p.T1003T|MADD_ENST00000349238.3_Silent_p.T1046T|MADD_ENST00000395336.3_Silent_p.T1046T|MADD_ENST00000395344.3_Silent_p.T983T|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000402192.2_Silent_p.T1026T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.T1046T(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTGCCCAGACCCACTACTATA	0.532																																						uc001ner.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3136-3138)ACC>ACA		MAP-kinase activating death domain-containing							78.0	75.0	76.0					11																	47311834		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47311834C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3138C>A	11.37:g.47311834C>A						MADD_uc001neq.2_Silent_p.T1026T|MADD_uc001nev.1_Silent_p.T983T|MADD_uc001nes.1_Silent_p.T1003T|MADD_uc001net.1_Silent_p.T1046T|MADD_uc009yln.1_Silent_p.T983T|MADD_uc001neu.1_Silent_p.T983T|MADD_uc001nex.2_Silent_p.T1046T|MADD_uc001nez.2_Silent_p.T983T|MADD_uc001new.2_Silent_p.T1026T|MADD_uc009ylo.2_5'Flank	p.T1046T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	19	3329	+			1046						Silent	SNP	ENST00000311027.5	37	c.3138C>A	CCDS7930.1																																																																																				PASS	0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			5	29	5	29	---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47726218	47726218	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:47726218C>T	ENST00000525123.1	-	7	748	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AGBL2_ENST00000357610.3_Missense_Mutation_p.E155K|AGBL2_ENST00000298861.4_Missense_Mutation_p.E155K|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E117K	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	155						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E155K(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGGTTTACTTCATCCAACTCA	0.443																																						uc001ngg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(463-465)GAA>AAA		carboxypeptidase 2, cytosolic							149.0	135.0	140.0					11																	47726218		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47726218C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.463G>A	11.37:g.47726218C>T	ENSP00000435582:p.Glu155Lys					AGBL2_uc010rhq.1_Missense_Mutation_p.E117K|AGBL2_uc001ngh.1_Missense_Mutation_p.E99K	p.E155K	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			6	563	-			155					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.463G>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	5.051	0.195163	0.09599	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04	5.47	-1.2	0.09554	.	0.558704	0.19217	N	0.119768	T	0.41488	0.1161	L	0.28556	0.865	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.003	T	0.18241	-1.0343	10	0.22706	T	0.39	-0.6361	6.7794	0.23638	0.0:0.5543:0.1147:0.331	.	117;117;155	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	K	155;155;155;117;99;99;97	ENSP00000435582:E155K;ENSP00000350228:E155K;ENSP00000298861:E155K;ENSP00000436630:E117K;ENSP00000436063:E99K;ENSP00000432264:E97K	ENSP00000298861:E155K	E	-	1	0	AGBL2	47682794	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-0.254000	0.08781	-0.180000	0.10637	-0.218000	0.12543	GAA		PASS	0.443	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		17	70	17	70	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515752	51515752	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:51515752G>T	ENST00000328188.1	+	1	471	c.471G>T	c.(469-471)caG>caT	p.Q157H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q157H(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAACCATACAGATCCTCTTCA	0.473																																						uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)CAG>CAT		olfactory receptor, family 4, subfamily C,							121.0	115.0	117.0					11																	51515752		2201	4293	6494	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515752G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.471G>T	11.37:g.51515752G>T	ENSP00000329056:p.Gln157His						p.Q157H	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	471	+			157			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.471G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.814	0.519314	0.13005	.	.	ENSG00000185926	ENST00000328188	T	0.00019	9.06	2.48	0.491	0.16867	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000581	T	0.00109	0.0003	N	0.16166	0.38	0.09310	N	1	P	0.40731	0.728	P	0.49853	0.624	T	0.36841	-0.9731	10	0.66056	D	0.02	.	6.2352	0.20758	0.2971:0.0:0.7029:0.0	.	157	A6NHA9	O4C46_HUMAN	H	157	ENSP00000329056:Q157H	ENSP00000329056:Q157H	Q	+	3	2	OR4C46	51372328	0.000000	0.05858	0.133000	0.22050	0.107000	0.19398	-0.227000	0.09126	0.408000	0.25621	0.134000	0.15878	CAG		PASS	0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		18	58	18	58	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310527	56310527	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:56310527C>A	ENST00000528616.2	-	1	230	c.207G>T	c.(205-207)gtG>gtT	p.V69V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCACAAATCCACAAAGGCTA	0.453																																						uc010rjl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GTG>GTT		olfactory receptor, family 5, subfamily M,							142.0	142.0	142.0					11																	56310527		2163	4276	6439	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310527C>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.207G>T	11.37:g.56310527C>A							p.V69V	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	207	-			69			Helical; Name=2; (Potential).		B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.207G>T	CCDS53629.1																																																																																				PASS	0.453	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		48	93	48	93	---	---	---	---
SCGB2A1	4246	broad.mit.edu	37	11	61976227	61976227	+	Missense_Mutation	SNP	G	G	A	rs143379489	byFrequency	TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:61976227G>A	ENST00000244930.4	+	1	88	c.24G>A	c.(22-24)atG>atA	p.M8I		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	8					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.M8I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGGTCCTCATGCTGGCGGCCC	0.602																																						uc001nta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)ATG>ATA		secretoglobin, family 2A, member 1 precursor							104.0	94.0	97.0					11																	61976227		2202	4299	6501	SO:0001583	missense	4246					extracellular region	androgen binding	g.chr11:61976227G>A	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.24G>A	11.37:g.61976227G>A	ENSP00000244930:p.Met8Ile						p.M8I	NM_002407	NP_002398	O75556	SG2A1_HUMAN			1	88	+			8						Missense_Mutation	SNP	ENST00000244930.4	37	c.24G>A	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516129	0.12944	.	.	ENSG00000124939	ENST00000244930	.	.	.	4.66	2.61	0.31194	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.19943	-1.0290	7	0.59425	D	0.04	.	4.904	0.13789	0.1086:0.0:0.6814:0.21	.	8	O75556	SG2A1_HUMAN	I	8	.	ENSP00000244930:M8I	M	+	3	0	SCGB2A1	61732803	0.223000	0.23663	0.135000	0.22099	0.038000	0.13279	0.489000	0.22387	1.265000	0.44215	0.549000	0.68633	ATG		PASS	0.602	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		34	55	34	55	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64518818	64518818	+	Missense_Mutation	SNP	G	G	C	rs114073621		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:64518818G>C	ENST00000164139.3	-	16	2346	c.1948C>G	c.(1948-1950)Cga>Gga	p.R650G	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R562G	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	650					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R650G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGAGACTCGGTAGTTCTCC	0.577																																						uc001oax.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2	GRCh37	CM071957	PYGM	M	rs114073621	c.(1948-1950)CGA>GGA		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						80.0	76.0	77.0					11																	64518818		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64518818G>C		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1948C>G	11.37:g.64518818G>C	ENSP00000164139:p.Arg650Gly					PYGM_uc001oay.3_Missense_Mutation_p.R562G	p.R650G	NM_005609	NP_005600	P11217	PYGM_HUMAN			16	2765	-			650					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1948C>G	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300375	0.60195	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93133	-3.17;-3.16	5.16	4.22	0.49857	.	0.000000	0.49916	D	0.000136	D	0.95265	0.8464	M	0.64260	1.97	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.99	D	0.94093	0.7355	10	0.35671	T	0.21	-9.3374	12.4647	0.55751	0.0:0.0:0.8131:0.1869	.	562;650	A6NDY6;P11217	.;PYGM_HUMAN	G	562;650;631	ENSP00000366650:R562G;ENSP00000164139:R650G	ENSP00000164139:R650G	R	-	1	2	PYGM	64275394	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.018000	0.30002	1.334000	0.45468	0.561000	0.74099	CGA		PASS	0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		14	23	14	23	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64572546	64572546	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:64572546G>T	ENST00000337652.1	-	9	1828	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	MEN1_ENST00000377316.2_Intron|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.A437D|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Missense_Mutation_p.A437D|MEN1_ENST00000443283.1_Missense_Mutation_p.A442D|MEN1_ENST00000394376.1_Missense_Mutation_p.A442D|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Missense_Mutation_p.A442D|MEN1_ENST00000377321.1_Missense_Mutation_p.A402D|MEN1_ENST00000312049.6_Missense_Mutation_p.A437D|MEN1_ENST00000377313.1_Missense_Mutation_p.A442D	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	442					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)	p.A437D(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAGAAAGGTGGCCCAGCCCAC	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)	p.Q442*(1)	lung(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(1324-1326)GCC>GAC		menin isoform 1							86.0	74.0	78.0					11																	64572546		2201	4297	6498	SO:0001583	missense	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572546G>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1325C>A	11.37:g.64572546G>T	ENSP00000337088:p.Ala442Asp					MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.A442D|MEN1_uc001obl.2_Missense_Mutation_p.A402D|MEN1_uc001obm.2_Missense_Mutation_p.A437D|MEN1_uc001obn.2_Missense_Mutation_p.A442D|MEN1_uc001obo.2_Missense_Mutation_p.A442D|MEN1_uc001obp.2_Missense_Mutation_p.A437D|MEN1_uc001obq.2_Missense_Mutation_p.A442D|MEN1_uc001obr.2_Missense_Mutation_p.A442D	p.A442D	NM_130800	NP_570712	O00255	MEN1_HUMAN			9	1398	-			442					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1325C>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018833	0.93404	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36	4.01	4.01	0.46588	.	0.120361	0.53938	D	0.000043	D	0.99542	0.9836	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.97662	1.0161	10	0.87932	D	0	-21.8544	14.0916	0.64995	0.0:0.0:1.0:0.0	.	437;402;442	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	D	402;437;437;437;442;442;442;442;442	ENSP00000366538:A402D;ENSP00000366543:A437D;ENSP00000308975:A437D;ENSP00000323747:A437D;ENSP00000337088:A442D;ENSP00000377901:A442D;ENSP00000377899:A442D;ENSP00000396940:A442D;ENSP00000366530:A442D	ENSP00000308975:A437D	A	-	2	0	MEN1	64329122	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.452000	0.90346	2.257000	0.74773	0.456000	0.33151	GCC		PASS	0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			4	36	4	36	---	---	---	---
SYT12	91683	broad.mit.edu	37	11	66816119	66816119	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:66816119A>G	ENST00000393946.2	+	11	2319	c.1157A>G	c.(1156-1158)cAt>cGt	p.H386R	SYT12_ENST00000525457.1_Missense_Mutation_p.H386R|SYT12_ENST00000527043.1_Missense_Mutation_p.H386R			Q8IV01	SYT12_HUMAN	synaptotagmin XII	386	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.H386R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AACGTGGGCCATGTCATCATT	0.642																																					Ovarian(65;2862 3307)	uc009yrl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)CAT>CGT		synaptotagmin XII							117.0	87.0	97.0					11																	66816119		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66816119A>G	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1157A>G	11.37:g.66816119A>G	ENSP00000377520:p.His386Arg					SYT12_uc001oju.2_Missense_Mutation_p.H386R	p.H386R	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			8	1387	+			386			C2 2.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393946.2	37	c.1157A>G	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298140	0.81025	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.67345	-0.26;-0.26;-0.26	4.47	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	N	0.13140	0.3	0.80722	D	1	D	0.59357	0.985	D	0.63793	0.918	T	0.56511	-0.7967	10	0.07030	T	0.85	.	12.0151	0.53309	1.0:0.0:0.0:0.0	.	386	Q8IV01	SYT12_HUMAN	R	386	ENSP00000377520:H386R;ENSP00000431400:H386R;ENSP00000435316:H386R	ENSP00000377520:H386R	H	+	2	0	SYT12	66572695	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.437000	0.80417	1.790000	0.52503	0.260000	0.18958	CAT		PASS	0.642	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		13	22	13	22	---	---	---	---
ANKRD13D	338692	broad.mit.edu	37	11	67067552	67067552	+	Missense_Mutation	SNP	G	G	T	rs78983123		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:67067552G>T	ENST00000447274.2	+	10	1945	c.770G>T	c.(769-771)cGg>cTg	p.R257L	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R257L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R257L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R344L|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	257						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.R257L(1)|p.R344L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGAGTCACGGAACATTGGC	0.637																																						uc001okc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(769-771)CGG>CTG		ankyrin repeat domain 13 family, member D							123.0	117.0	119.0					11																	67067552		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67067552G>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.770G>T	11.37:g.67067552G>T	ENSP00000402616:p.Arg257Leu					ANKRD13D_uc001okd.1_Missense_Mutation_p.R344L|ANKRD13D_uc001oke.1_Missense_Mutation_p.R257L|ANKRD13D_uc001okg.1_Missense_Mutation_p.R40L|ANKRD13D_uc001okh.1_Missense_Mutation_p.R40L|ANKRD13D_uc001oki.1_5'Flank	p.R257L	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1281	+			257					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.770G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.107459	0.94292	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000017	T	0.68467	0.3004	M	0.81497	2.545	0.80722	D	1	D;P	0.56035	0.974;0.906	D;P	0.63488	0.915;0.665	T	0.73173	-0.4066	10	0.52906	T	0.07	-18.3648	16.6887	0.85315	0.0:0.0:1.0:0.0	.	344;257	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	L	257;344;257;257	ENSP00000402616:R257L;ENSP00000427130:R344L;ENSP00000310874:R257L;ENSP00000444404:R257L	ENSP00000310874:R257L	R	+	2	0	ANKRD13D	66824128	1.000000	0.71417	0.759000	0.31340	0.944000	0.59088	7.512000	0.81728	2.263000	0.75096	0.563000	0.77884	CGG		PASS	0.637	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		24	56	24	56	---	---	---	---
NDUFV1	4723	broad.mit.edu	37	11	67379866	67379866	+	Silent	SNP	G	G	A	rs371954170	byFrequency	TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:67379866G>A	ENST00000322776.6	+	10	1485	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	NDUFV1_ENST00000529927.1_Silent_p.P435P|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000532303.1_Silent_p.P343P|NDUFV1_ENST00000415352.2_Silent_p.P437P	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	444					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.P444P(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ACTTTCGGCCGGAGCTCGAGG	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		15094	0.0		0.0	False		,,,				2504	0.002					uc001omj.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1330-1332)CCG>CCA		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)	G	,	0,4400		0,0,2200	30.0	32.0	32.0		1305,1332	-10.3	0.7	11		32	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	NDUFV1	NM_001166102.1,NM_007103.3	,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,	435/456,444/465	67379866	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379866G>A	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1332G>A	11.37:g.67379866G>A						NDUFV1_uc010rpv.1_Silent_p.P343P|NDUFV1_uc001oml.2_Silent_p.P437P|NDUFV1_uc001omk.3_Silent_p.P435P|NDUFV1_uc010rpw.1_Silent_p.P153P	p.P444P	NM_007103	NP_009034	P49821	NDUV1_HUMAN			10	1485	+			444					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.1332G>A	CCDS8173.1																																																																																				PASS	0.647	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		4	5	4	5	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	69957845	69957845	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:69957845G>A	ENST00000355303.5	+	7	1137	c.832G>A	c.(832-834)Gcg>Acg	p.A278T	ANO1_ENST00000398543.2_Missense_Mutation_p.A162T|ANO1_ENST00000316296.5_Missense_Mutation_p.A250T|ANO1_ENST00000530676.1_Missense_Mutation_p.A162T|ANO1_ENST00000531349.1_Missense_Mutation_p.A13T|ANO1_ENST00000538023.1_Missense_Mutation_p.A278T	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	278					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A278P(2)|p.A278T(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGGTGTGTACGCGGCTGCATA	0.562																																						uc001opj.2																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)|pancreas(1)	2						c.(832-834)GCG>ACG		anoctamin 1, calcium activated chloride channel							157.0	165.0	162.0					11																	69957845		2023	4186	6209	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69957845G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.832G>A	11.37:g.69957845G>A	ENSP00000347454:p.Ala278Thr					ANO1_uc001opk.1_Missense_Mutation_p.A250T|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.A13T	p.A278T	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			7	1137	+			278			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.832G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591257	0.13812	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.1	5.26	1.32	0.21799	.	0.525055	0.18489	N	0.139684	T	0.23133	0.0559	N	0.00841	-1.15	0.24888	N	0.992188	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.15484	0.0;0.013;0.001	T	0.22906	-1.0203	9	.	.	.	.	4.2864	0.10857	0.3477:0.0:0.2556:0.3967	.	13;250;278	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	T	278;278;162;62;245;250;162;13	ENSP00000347454:A278T;ENSP00000444689:A278T;ENSP00000381551:A162T;ENSP00000436392:A245T;ENSP00000319477:A250T;ENSP00000435797:A162T;ENSP00000432843:A13T	.	A	+	1	0	ANO1	69635493	1.000000	0.71417	0.994000	0.49952	0.394000	0.30568	3.206000	0.51098	0.305000	0.22832	-0.521000	0.04368	GCG		PASS	0.562	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		43	774	43	774	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70224135	70224135	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:70224135G>T	ENST00000253925.7	+	26	3599		c.e26-1		AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_Splice_Site|PPFIA1_ENST00000389547.3_Splice_Site	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.?(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TAATTTACCAGGATGATGATA	0.378																																						uc001opo.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)	3						c.e26-1		PTPRF interacting protein alpha 1 isoform b							96.0	101.0	99.0					11																	70224135		2200	4294	6494	SO:0001630	splice_region_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70224135G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3385-1G>T	11.37:g.70224135G>T						PPFIA1_uc001opn.1_Splice_Site_p.D1129_splice|PPFIA1_uc001opp.2_Splice_Site|PPFIA1_uc001opr.2_Splice_Site_p.D268_splice|PPFIA1_uc001ops.2_Splice_Site_p.D168_splice|uc001opt.1_Intron	p.D1129_splice	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		26	3583	+								A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37	c.3385_splice	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624659	0.66901	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0993	0.86645	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69901783	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	9.638000	0.98445	2.042000	0.60477	0.561000	0.74099	.		PASS	0.378	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	Intron	9	448	9	448	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85701343	85701343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:85701343G>C	ENST00000393346.3	-	13	1506	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Nonsense_Mutation_p.S446*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.S453*			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	453					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)	p.S453*(1)		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)				AGATACATCTGAAGAAATGGA	0.363			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		1	Substitution - Nonsense(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1357-1359)TCA>TGA		phosphatidylinositol-binding clathrin assembly							132.0	127.0	129.0					11																	85701343		2203	4299	6502	SO:0001587	stop_gained	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.chr11:85701343G>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.1358C>G	11.37:g.85701343G>C	ENSP00000377015:p.Ser453*					PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Nonsense_Mutation_p.S446*|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Nonsense_Mutation_p.S85*	p.S453*	NM_007166	NP_009097	Q13492	PICAL_HUMAN			13	1644	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	453					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Nonsense_Mutation	SNP	ENST00000393346.3	37	c.1358C>G	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.613007|8.613007	0.98886|0.98886	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000526961;ENST00000530542|ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.469429	.|0.19734	.|N	.|0.107288	T|.	0.80444|.	0.4624|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76953|.	-0.2768|.	3|.	.|.	.|.	.|.	-5.2702|-5.2702	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	61;155|446;453;453;453	.|.	.|.	F|S	-|-	3|2	2|0	PICALM|PICALM	85378991|85378991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	TTC|TCA		PASS	0.363	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		14	66	14	66	---	---	---	---
EED	8726	broad.mit.edu	37	11	85977186	85977186	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:85977186G>T	ENST00000263360.6	+	8	1474	c.788G>T	c.(787-789)tGg>tTg	p.W263L	EED_ENST00000351625.6_Missense_Mutation_p.W263L|EED_ENST00000327320.4_Missense_Mutation_p.W263L|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	263	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.W263L(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CTTAAACTTTGGAGGATCAAT	0.289																																						uc001pbp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(787-789)TGG>TTG		embryonic ectoderm development isoform a							89.0	100.0	96.0					11																	85977186		2202	4285	6487	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977186G>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.788G>T	11.37:g.85977186G>T	ENSP00000263360:p.Trp263Leu					EED_uc010rtm.1_Missense_Mutation_p.W263L|EED_uc001pbq.2_Missense_Mutation_p.W263L|EED_uc001pbr.2_Missense_Mutation_p.W263L|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	p.W263L	NM_003797	NP_003788	O75530	EED_HUMAN			8	1245	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	263			Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.788G>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063009	0.93898	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228;ENST00000534564	T;T;D	0.83506	1.16;1.16;-1.73	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	H	0.94306	3.52	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	0.95204	0.8319	9	.	.	.	-7.3146	19.4599	0.94912	0.0:0.0:1.0:0.0	.	263;263;263	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	L	263;263;263;56;12	ENSP00000263360:W263L;ENSP00000338186:W263L;ENSP00000315587:W263L	.	W	+	2	0	EED	85654834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.671000	0.90904	0.563000	0.77884	TGG		PASS	0.289	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	79	5	79	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531505	89531505	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:89531505C>T	ENST00000329758.1	-	8	1480	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	TRIM49_ENST00000532501.2_Silent_p.K307K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K384K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAATGTCATTCTTAACACACC	0.428																																						uc001pdb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1150-1152)AAG>AAA		ring finger protein 18							88.0	94.0	92.0					11																	89531505		2096	4271	6367	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531505C>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1152G>A	11.37:g.89531505C>T							p.K384K	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1481	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	384			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1152G>A	CCDS8287.1																																																																																				PASS	0.428	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		8	78	8	78	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105732836	105732836	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:105732836G>T	ENST00000530497.1	+	4	574	c.574G>T	c.(574-576)Gtc>Ttc	p.V192F	GRIA4_ENST00000393127.2_Missense_Mutation_p.V192F|GRIA4_ENST00000525187.1_Missense_Mutation_p.V192F|GRIA4_ENST00000282499.5_Missense_Mutation_p.V192F|GRIA4_ENST00000393125.2_Missense_Mutation_p.V192F|GRIA4_ENST00000428631.2_Missense_Mutation_p.V192F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	192					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)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.V192F(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTTTAATGATGTCAGCTATAG	0.368																																						uc001pix.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(574-576)GTC>TTC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						85.0	83.0	84.0					11																	105732836		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105732836G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.574G>T	11.37:g.105732836G>T	ENSP00000435775:p.Val192Phe					GRIA4_uc001piu.1_Missense_Mutation_p.V192F|GRIA4_uc001piw.2_Missense_Mutation_p.V192F|GRIA4_uc001piv.2_Missense_Mutation_p.V192F|GRIA4_uc009yxk.1_Missense_Mutation_p.V192F	p.V192F	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	5	1020	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	192			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.574G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607933	0.66558	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.094502	0.43919	D	0.000505	T	0.76442	0.3988	N	0.08118	0	0.53005	D	0.999962	B;P;P;B	0.36789	0.004;0.515;0.57;0.164	B;B;B;B	0.43680	0.015;0.24;0.427;0.156	T	0.80469	-0.1369	10	0.66056	D	0.02	.	18.969	0.92708	0.0:0.0:1.0:0.0	.	192;192;222;192	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	F	192	ENSP00000376833:V192F;ENSP00000282499:V192F;ENSP00000376835:V192F;ENSP00000415551:V192F;ENSP00000435775:V192F;ENSP00000432180:V192F	ENSP00000282499:V192F	V	+	1	0	GRIA4	105238046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.403000	0.97302	2.477000	0.83638	0.557000	0.71058	GTC		PASS	0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			13	28	13	28	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108383320	108383320	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:108383320C>G	ENST00000265843.4	-	6	3024	c.2914G>C	c.(2914-2916)Gga>Cga	p.G972R	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.G784R|EXPH5_ENST00000525344.1_Missense_Mutation_p.G965R|EXPH5_ENST00000428840.1_Missense_Mutation_p.G896R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	972					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.G972R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCCTTTTCCTCTTTCATTC	0.393																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2914-2916)GGA>CGA		exophilin 5 isoform a							181.0	166.0	171.0					11																	108383320		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383320C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2914G>C	11.37:g.108383320C>G	ENSP00000265843:p.Gly972Arg					EXPH5_uc010rvy.1_Missense_Mutation_p.G784R|EXPH5_uc010rvz.1_Missense_Mutation_p.G816R|EXPH5_uc010rwa.1_Missense_Mutation_p.G896R	p.G972R	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3025	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	972					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2914G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574475	0.45902	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04862	4.17;4.09;3.94;4.17;4.0;3.54	5.89	4.98	0.66077	.	0.519218	0.19116	N	0.122320	T	0.09862	0.0242	M	0.64997	1.995	0.09310	N	1	P	0.46277	0.875	B	0.40825	0.341	T	0.13737	-1.0498	10	0.72032	D	0.01	-6.895	11.954	0.52970	0.0:0.9198:0.0:0.0802	.	972	Q8NEV8	EXPH5_HUMAN	R	972;896;784;965;896;784	ENSP00000265843:G972R;ENSP00000391966:G896R;ENSP00000411390:G784R;ENSP00000432546:G965R;ENSP00000432683:G896R;ENSP00000446434:G784R	ENSP00000265843:G972R	G	-	1	0	EXPH5	107888530	0.017000	0.18338	0.131000	0.22000	0.120000	0.20174	2.151000	0.42263	1.509000	0.48786	0.563000	0.77884	GGA		PASS	0.393	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		19	70	19	70	---	---	---	---
POU2AF1	5450	broad.mit.edu	37	11	111228206	111228206	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:111228206C>G	ENST00000393067.3	-	4	934	c.420G>C	c.(418-420)ttG>ttC	p.L140F		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	140					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L140F(1)		breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		AGGCATAGGTCAACACTGAGG	0.572			T	BCL6	NHL																																	uc001plg.3				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(418-420)TTG>TTC		POU class 2 associating factor 1							78.0	67.0	71.0					11																	111228206		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228206C>G		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.420G>C	11.37:g.111228206C>G	ENSP00000376786:p.Leu140Phe						p.L140F	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	675	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	140					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.420G>C	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668186	0.67814	.	.	ENSG00000110777	ENST00000393067	T	0.47528	0.84	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000005	T	0.62913	0.2467	L	0.52573	1.65	0.43503	D	0.995751	D	0.76494	0.999	D	0.91635	0.999	T	0.65635	-0.6120	10	0.72032	D	0.01	-33.3078	14.5743	0.68235	0.0:0.8529:0.147:0.0	.	140	Q16633	OBF1_HUMAN	F	140	ENSP00000376786:L140F	ENSP00000376786:L140F	L	-	3	2	POU2AF1	110733416	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.350000	0.44063	2.302000	0.77476	0.492000	0.49549	TTG		PASS	0.572	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		7	33	7	33	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118344238	118344238	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:118344238C>A	ENST00000389506.5	+	3	2364	c.2364C>A	c.(2362-2364)gcC>gcA	p.A788A	KMT2A_ENST00000354520.4_Silent_p.A788A|KMT2A_ENST00000534358.1_Silent_p.A788A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	788					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.A788A(2)									GTCCTCTTGCCACTAGTGCCT	0.473																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(2362-2364)GCC>GCA		myeloid/lymphoid or mixed-lineage leukemia							184.0	161.0	169.0					11																	118344238		2200	4296	6496	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.chr11:118344238C>A	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.2364C>A	11.37:g.118344238C>A						MLL_uc001ptb.2_Silent_p.A788A|MLL_uc001psz.1_Silent_p.A821A|MLL_uc001ptd.1_Intron	p.A788A	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)	3	2387	+	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)	788					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.2364C>A	CCDS31686.1																																																																																				PASS	0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	97	5	97	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900835	123900835	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:123900835G>C	ENST00000431524.1	+	1	539	c.506G>C	c.(505-507)gGa>gCa	p.G169A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G169A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		CCCTACTGTGGACCCAACTGG	0.532																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(505-507)GGA>GCA		olfactory receptor, family 10, subfamily G,							206.0	185.0	192.0					11																	123900835		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900835G>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.506G>C	11.37:g.123900835G>C	ENSP00000389072:p.Gly169Ala						p.G169A	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	506	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	169			Extracellular (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.506G>C	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150271	0.37923	.	.	ENSG00000234560	ENST00000431524	T	0.38560	1.13	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000229	T	0.55257	0.1909	L	0.56199	1.76	0.32191	N	0.579055	D	0.89917	1.0	D	0.97110	1.0	T	0.63594	-0.6602	10	0.87932	D	0	.	9.616	0.39692	0.1118:0.0:0.8882:0.0	.	169	Q8NGN5	O10G8_HUMAN	A	169	ENSP00000389072:G169A	ENSP00000389072:G169A	G	+	2	0	OR10G8	123406045	0.986000	0.35501	0.937000	0.37676	0.389000	0.30415	1.929000	0.40114	1.684000	0.51022	0.650000	0.86243	GGA		PASS	0.532	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		46	93	46	93	---	---	---	---
ACAD8	27034	broad.mit.edu	37	11	134130962	134130962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr11:134130962C>T	ENST00000281182.4	+	7	836	c.730C>T	c.(730-732)Cga>Tga	p.R244*	ACAD8_ENST00000537423.1_Nonsense_Mutation_p.R167*|ACAD8_ENST00000543332.1_Nonsense_Mutation_p.R146*|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Nonsense_Mutation_p.R117*	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	244					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.R244*(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	CCAGCCAACACGAGCTGTGAT	0.612																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(730-732)CGA>TGA		acyl-Coenzyme A dehydrogenase family, member 8							57.0	50.0	53.0					11																	134130962		2201	4297	6498	SO:0001587	stop_gained	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134130962C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.730C>T	11.37:g.134130962C>T	ENSP00000281182:p.Arg244*					ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Nonsense_Mutation_p.R167*|ACAD8_uc001qhl.2_Nonsense_Mutation_p.R117*|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR	p.R244*	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	7	791	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	244					B7Z5W4|Q6ZWP6|Q9BUS8	Nonsense_Mutation	SNP	ENST00000281182.4	37	c.730C>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330757	0.95733	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	.	.	.	5.44	4.45	0.53987	.	0.049058	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0213	0.71632	0.2352:0.7648:0.0:0.0	.	.	.	.	X	244;167;146;117;206	.	ENSP00000281182:R244X	R	+	1	2	ACAD8	133636172	0.936000	0.31750	0.953000	0.39169	0.968000	0.65278	1.535000	0.36061	2.561000	0.86390	0.561000	0.74099	CGA		PASS	0.612	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		4	10	4	10	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22046974	22046974	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:22046974G>C	ENST00000261201.4	-	12	1793	c.1794C>G	c.(1792-1794)gcC>gcG	p.A598A	ABCC9_ENST00000261200.4_Silent_p.A598A|ABCC9_ENST00000345162.2_Silent_p.A598A	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	598					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.A598A(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACCTTATGATGGCTTTGACTG	0.403																																						uc001rfi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1792-1794)GCC>GCG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						109.0	101.0	104.0					12																	22046974		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22046974G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1794C>G	12.37:g.22046974G>C						ABCC9_uc001rfh.2_Silent_p.A598A|ABCC9_uc001rfj.1_Silent_p.A598A	p.A598A	NM_005691	NP_005682	O60706	ABCC9_HUMAN			12	1814	-			598			Cytoplasmic (Potential).		O60707	Silent	SNP	ENST00000261201.4	37	c.1794C>G	CCDS8694.1																																																																																				PASS	0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		17	47	17	47	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22678604	22678604	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:22678604C>G	ENST00000333957.4	-	5	640	c.385G>C	c.(385-387)Gac>Cac	p.D129H	C2CD5_ENST00000396028.2_Missense_Mutation_p.D129H|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.D129H|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000446597.1_Missense_Mutation_p.D129H|C2CD5_ENST00000545552.1_Missense_Mutation_p.D129H|C2CD5_ENST00000536386.1_Missense_Mutation_p.D129H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	129					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.D129H(1)									TTGAAGAGGTCTACTTTGACA	0.294																																						uc001rfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(385-387)GAC>CAC		hypothetical protein LOC9847							167.0	185.0	179.0					12																	22678604		2203	4297	6500	SO:0001583	missense	9847						protein binding	g.chr12:22678604C>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.385G>C	12.37:g.22678604C>G	ENSP00000334229:p.Asp129His					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.D129H|KIAA0528_uc010sit.1_Missense_Mutation_p.D129H|KIAA0528_uc010siu.1_Missense_Mutation_p.D129H|KIAA0528_uc001rfr.2_Missense_Mutation_p.D129H|KIAA0528_uc009ziy.1_Missense_Mutation_p.D129H	p.D129H	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			5	613	-			129					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.385G>C	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907676	0.92107	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.76839	-1.05;-1.05;-0.13;-0.12;-1.05;-0.12	5.76	5.76	0.90799	.	0.049594	0.85682	D	0.000000	D	0.82747	0.5104	L	0.40543	1.245	0.80722	D	1	P;B;B;D;B	0.59357	0.486;0.014;0.215;0.985;0.007	B;B;B;P;B	0.59171	0.273;0.011;0.071;0.853;0.011	T	0.82776	-0.0290	10	0.54805	T	0.06	-21.7945	19.975	0.97300	0.0:1.0:0.0:0.0	.	129;129;129;129;129	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	H	129	ENSP00000334229:D129H;ENSP00000388756:D129H;ENSP00000439392:D129H;ENSP00000379345:D129H;ENSP00000441951:D129H;ENSP00000443204:D129H	ENSP00000334229:D129H	D	-	1	0	KIAA0528	22569871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.724000	0.93272	0.585000	0.79938	GAC		PASS	0.294	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		19	134	19	134	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26709212	26709212	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:26709212G>T	ENST00000381340.3	-	36	5334	c.4918C>A	c.(4918-4920)Cct>Act	p.P1640T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1640					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.P1640T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTCCCTCAGGGAACAGCAGT	0.483																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4918-4920)CCT>ACT		inositol 1,4,5-triphosphate receptor, type 2							168.0	164.0	165.0					12																	26709212		2016	4174	6190	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26709212G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4918C>A	12.37:g.26709212G>T	ENSP00000370744:p.Pro1640Thr						p.P1640T	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			36	5335	-	Colorectal(261;0.0847)		1640			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4918C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437954	0.83885	.	.	ENSG00000123104	ENST00000381340	D	0.92348	-3.02	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.93383	0.7890	M	0.79805	2.47	0.80722	D	1	P	0.39376	0.67	B	0.42593	0.392	D	0.93335	0.6704	10	0.44086	T	0.13	.	18.662	0.91474	0.0:0.0:1.0:0.0	.	1640	Q14571	ITPR2_HUMAN	T	1640	ENSP00000370744:P1640T	ENSP00000370744:P1640T	P	-	1	0	ITPR2	26600479	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	9.327000	0.96396	2.404000	0.81709	0.491000	0.48974	CCT		PASS	0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	110	6	110	---	---	---	---
YAF2	10138	broad.mit.edu	37	12	42554480	42554480	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:42554480C>T	ENST00000534854.2	-	4	521	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	YAF2_ENST00000442791.3_Missense_Mutation_p.G176S|YAF2_ENST00000380788.3_Missense_Mutation_p.G143S|YAF2_ENST00000327791.4_Missense_Mutation_p.G128S|YAF2_ENST00000380790.4_Missense_Mutation_p.G110S	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	152					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G152S(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		GAGCTAGAGCCGCTTTGACTG	0.428																																						uc001rmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GGC>AGC		YY1 associated factor 2							96.0	88.0	91.0					12																	42554480		2203	4300	6503	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42554480C>T	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.454G>A	12.37:g.42554480C>T	ENSP00000439256:p.Gly152Ser					YAF2_uc001rmw.2_Missense_Mutation_p.G176S|YAF2_uc010sko.1_Missense_Mutation_p.G143S|YAF2_uc010skp.1_Missense_Mutation_p.G110S	p.G152S	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	4	522	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	152					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.454G>A	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527809	0.44969	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.6	4.22	0.49857	.	0.089728	0.85682	N	0.000000	T	0.32071	0.0817	N	0.17800	0.525	0.80722	D	1	B;B;B;B	0.27951	0.06;0.195;0.043;0.01	B;B;B;B	0.23018	0.023;0.043;0.034;0.013	T	0.07404	-1.0774	9	0.08179	T	0.78	.	11.6408	0.51230	0.0:0.8797:0.0:0.1203	.	110;143;128;152	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	S	128;176;152;110;143	.	ENSP00000328004:G128S	G	-	1	0	YAF2	40840747	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.547000	0.60712	0.875000	0.35847	0.655000	0.94253	GGC		PASS	0.428	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			14	24	14	24	---	---	---	---
LMBR1L	55716	broad.mit.edu	37	12	49495909	49495909	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:49495909C>A	ENST00000267102.8	-	11	1266	c.924G>T	c.(922-924)gtG>gtT	p.V308V	LMBR1L_ENST00000547382.1_Silent_p.V308V|LMBR1L_ENST00000395141.4_Silent_p.V303V|LMBR1L_ENST00000553204.1_5'Flank	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	308					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V308V(1)|p.V303V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTACCGTCAGCACCAGCAAGC	0.597																																						uc001rth.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(922-924)GTG>GTT		lipocalin-interacting membrane receptor							98.0	88.0	92.0					12																	49495909		2203	4300	6503	SO:0001819	synonymous_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49495909C>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.924G>T	12.37:g.49495909C>A						LMBR1L_uc001rtg.3_Silent_p.V303V|LMBR1L_uc001rti.3_Silent_p.V308V|LMBR1L_uc001rtj.1_Silent_p.V152V|LMBR1L_uc009zld.1_Silent_p.V181V	p.V308V	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			11	1266	-			308			Helical; (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	c.924G>T	CCDS8780.2																																																																																				PASS	0.597	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		18	42	18	42	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53455039	53455039	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:53455039C>G	ENST00000314250.6	+	20	3639	c.3349C>G	c.(3349-3351)Caa>Gaa	p.Q1117E	TENC1_ENST00000451358.1_Missense_Mutation_p.Q1107E|TENC1_ENST00000379902.3_Missense_Mutation_p.Q993E|TENC1_ENST00000546602.1_Missense_Mutation_p.Q1020E|TENC1_ENST00000549700.1_Missense_Mutation_p.Q1052E|TENC1_ENST00000552570.1_Missense_Mutation_p.Q1117E|TENC1_ENST00000314276.3_Missense_Mutation_p.Q1127E	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1117	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.Q1127E(1)|p.Q1117E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TAATGTCCCCCAAACCCCAGG	0.597																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3349-3351)CAA>GAA		tensin like C1 domain containing phosphatase							47.0	57.0	54.0					12																	53455039		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53455039C>G	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3349C>G	12.37:g.53455039C>G	ENSP00000319684:p.Gln1117Glu					TENC1_uc001sbl.2_Missense_Mutation_p.Q993E|TENC1_uc001sbn.2_Missense_Mutation_p.Q1127E|TENC1_uc001sbq.2_Missense_Mutation_p.Q515E|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.Q612E|TENC1_uc001sbs.2_5'Flank	p.Q1117E	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			20	3484	+			1117			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3349C>G	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	6.417	0.444986	0.12164	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	4.46	2.49	0.30216	.	0.507470	0.16933	N	0.193574	T	0.47284	0.1437	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.13145	0.002;0.006;0.001;0.007	B;B;B;B	0.19666	0.023;0.01;0.004;0.026	T	0.28332	-1.0047	10	0.27785	T	0.31	0.0	7.1388	0.25543	0.1975:0.6119:0.1907:0.0	.	1117;1020;1117;1127	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	E	993;1127;1117;1107;1020;1117;1052	ENSP00000369232:Q993E;ENSP00000319756:Q1127E;ENSP00000319684:Q1117E;ENSP00000393362:Q1107E;ENSP00000449363:Q1020E;ENSP00000447021:Q1117E;ENSP00000449361:Q1052E	ENSP00000319684:Q1117E	Q	+	1	0	TENC1	51741306	0.000000	0.05858	0.011000	0.14972	0.056000	0.15407	0.228000	0.17814	1.260000	0.44134	-0.218000	0.12543	CAA		PASS	0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		15	57	15	57	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53881050	53881050	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:53881050C>T	ENST00000267079.2	-	2	351	c.126G>A	c.(124-126)ctG>ctA	p.L42L	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Silent_p.L42L|MAP3K12_ENST00000547488.1_Silent_p.L42L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	42					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.L42L(2)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGTAGGCGTCAGGTCCTTCT	0.627																																						uc001sdm.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(124-126)CTG>CTA		mitogen-activated protein kinase kinase kinase							129.0	102.0	111.0					12																	53881050		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53881050C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.126G>A	12.37:g.53881050C>T						MAP3K12_uc001sdn.1_Silent_p.L42L	p.L42L	NM_006301	NP_006292	Q12852	M3K12_HUMAN			2	224	-			42					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.126G>A	CCDS8860.1																																																																																				PASS	0.627	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		9	72	9	72	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63974449	63974449	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:63974449G>T	ENST00000324472.4	-	19	2076	c.1893C>A	c.(1891-1893)acC>acA	p.T631T	DPY19L2_ENST00000413230.2_Silent_p.T78T	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	631					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.T631T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CACCTGATGTGGTACTGTATT	0.313																																						uc001srp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1891-1893)ACC>ACA		dpy-19-like 2							87.0	87.0	87.0					12																	63974449		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974449G>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1893C>A	12.37:g.63974449G>T						DPY19L2_uc010sso.1_Silent_p.T78T	p.T631T	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	2074	-			631					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1893C>A	CCDS31851.1																																																																																				PASS	0.313	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		5	78	5	78	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68051497	68051497	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:68051497G>T	ENST00000344096.3	+	3	1223	c.810G>T	c.(808-810)ctG>ctT	p.L270L	DYRK2_ENST00000393555.3_Silent_p.L197L|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.L270L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCCGAATCCTGGAACACCTGC	0.527																																						uc001str.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(808-810)CTG>CTT		dual-specificity tyrosine-(Y)-phosphorylation							96.0	87.0	90.0					12																	68051497		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051497G>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.810G>T	12.37:g.68051497G>T						DYRK2_uc001sts.3_Silent_p.L197L	p.L270L	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1212	+			270			Protein kinase.		B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.810G>T	CCDS8978.1																																																																																				PASS	0.527	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			6	87	6	87	---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70150363	70150363	+	Missense_Mutation	SNP	C	C	A	rs375092922		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:70150363C>A	ENST00000247833.7	+	3	806	c.430C>A	c.(430-432)Cgt>Agt	p.R144S	RAB3IP_ENST00000378815.6_Missense_Mutation_p.R144S|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R144S|RAB3IP_ENST00000550536.1_Missense_Mutation_p.R160S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R160S					RAB3A interacting protein									p.R160S(2)		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)			TAGTCTGTCTCGTTTACGAAG	0.393																																						uc001svp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)CGT>AGT		RAB3A interacting protein isoform alpha 2							212.0	201.0	205.0					12																	70150363		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.chr12:70150363C>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.430C>A	12.37:g.70150363C>A	ENSP00000247833:p.Arg144Ser					RAB3IP_uc001svl.1_Missense_Mutation_p.R144S|RAB3IP_uc001svm.2_Missense_Mutation_p.R144S|RAB3IP_uc001svn.2_Missense_Mutation_p.R144S|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R160S|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	p.R160S	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		3	925	+	Esophageal squamous(21;0.187)		160						Missense_Mutation	SNP	ENST00000247833.7	37	c.478C>A	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.602235|4.602235	0.87055|0.87055	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025;ENST00000547055|ENST00000550647	T;T|.	0.58652|.	0.34;0.32|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.101606|.	0.64402|.	D|.	0.000003|.	T|.	0.59542|.	0.2201|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.67145|.	0.996;0.753;0.993;0.946|.	D;B;D;P|.	0.65987|.	0.94;0.256;0.94;0.538|.	T|.	0.59867|.	-0.7373|.	10|.	0.66056|0.54805	D|T	0.02|0.06	.|.	14.8846|14.8846	0.70557|0.70557	0.1433:0.8567:0.0:0.0|0.1433:0.8567:0.0:0.0	.|.	160;160;144;144|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	S|X	144;144;144;144;160;160;21|33	ENSP00000247833:R144S;ENSP00000447300:R160S|.	ENSP00000247833:R144S|ENSP00000448218:S33X	R|S	+|+	1|2	0|0	RAB3IP|RAB3IP	68436630|68436630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.501000|4.501000	0.60393|0.60393	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGT|TCG		PASS	0.393	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		4	113	4	113	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78511809	78511809	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:78511809G>A	ENST00000397909.2	+	14	2945	c.2772G>A	c.(2770-2772)ctG>ctA	p.L924L	NAV3_ENST00000228327.6_Silent_p.L924L|NAV3_ENST00000536525.2_Silent_p.L924L|NAV3_ENST00000266692.7_Silent_p.L924L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	924				L -> V (in Ref. 3; AAM73757). {ECO:0000305}.		membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L924L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTTATAGCTGAGGACAGATT	0.368										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2770-2772)CTG>CTA		neuron navigator 3							97.0	100.0	99.0					12																	78511809		1834	4093	5927	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78511809G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2772G>A	12.37:g.78511809G>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.L924L|NAV3_uc010sub.1_Silent_p.L424L|NAV3_uc009zsf.2_5'UTR	p.L924L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			14	2945	+			924	L -> V (in Ref. 3; AAM73757).				Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.2772G>A																																																																																					PASS	0.368	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		26	154	26	154	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88484529	88484529	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:88484529G>C	ENST00000552810.1	-	30	3892	c.3549C>G	c.(3547-3549)ctC>ctG	p.L1183L	CEP290_ENST00000309041.7_Silent_p.L1185L|CEP290_ENST00000547691.2_Silent_p.L243L|CEP290_ENST00000397838.3_Silent_p.L243L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1183					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.L1185L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTGCATTCTGAGGGACTCTA	0.383																																						uc001tar.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(3547-3549)CTC>CTG		centrosomal protein 290kDa							176.0	157.0	163.0					12																	88484529		1880	4101	5981	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88484529G>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3549C>G	12.37:g.88484529G>C						CEP290_uc001taq.2_Silent_p.L243L	p.L1183L	NM_025114	NP_079390	O15078	CE290_HUMAN			30	3893	-			1183			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.3549C>G	CCDS55858.1																																																																																				PASS	0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	6	3	6	---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110376235	110376235	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:110376235G>T	ENST00000355312.3	-	18	1952	c.1953C>A	c.(1951-1953)acC>acA	p.T651T	GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000338373.5_Silent_p.T553T|GIT2_ENST00000361006.5_Silent_p.T621T|GIT2_ENST00000356259.4_Silent_p.T538T|GIT2_ENST00000457474.2_Silent_p.T573T|GIT2_ENST00000343646.5_Silent_p.T541T|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Silent_p.T573T|GIT2_ENST00000360185.4_Silent_p.T601T|GIT2_ENST00000551209.1_Silent_p.T600T|GIT2_ENST00000553118.1_Silent_p.T523T	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	651					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T651T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTATGTTTTTGGTGATCTGTT	0.512																																						uc001tps.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1951-1953)ACC>ACA		G protein-coupled receptor kinase interacting							221.0	208.0	213.0					12																	110376235		2203	4300	6503	SO:0001819	synonymous_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110376235G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1953C>A	12.37:g.110376235G>T						TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Silent_p.T191T|GIT2_uc001tpq.2_Silent_p.T621T|GIT2_uc001tpv.2_Silent_p.T573T|GIT2_uc001tpu.2_Silent_p.T571T|GIT2_uc001tpt.2_Silent_p.T523T|GIT2_uc010sxu.1_Silent_p.T559T	p.T651T	NM_057169	NP_476510	Q14161	GIT2_HUMAN			18	2118	-			651					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	c.1953C>A	CCDS9138.1																																																																																				PASS	0.512	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		6	104	6	104	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704132	113704132	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:113704132G>T	ENST00000335509.6	+	4	699	c.385G>T	c.(385-387)Gcc>Tcc	p.A129S	TPCN1_ENST00000392569.4_Missense_Mutation_p.A61S|TPCN1_ENST00000550785.1_Missense_Mutation_p.A201S|TPCN1_ENST00000541517.1_Missense_Mutation_p.A201S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	129					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.A129S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGAGGCCCCCGCCGTCCCCGC	0.642																																						uc001tuw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(385-387)GCC>TCC		two pore segment channel 1 isoform 2							163.0	177.0	172.0					12																	113704132		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704132G>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.385G>T	12.37:g.113704132G>T	ENSP00000335300:p.Ala129Ser					TPCN1_uc001tux.2_Missense_Mutation_p.A201S|TPCN1_uc010syt.1_Missense_Mutation_p.A61S	p.A129S	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			4	682	+			129			Helical; Name=S1 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.385G>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492311	0.84962	.	.	ENSG00000186815	ENST00000552642;ENST00000552985;ENST00000335509;ENST00000552897;ENST00000550785;ENST00000541517;ENST00000392569;ENST00000552542;ENST00000548465	T;D;D;D;D	0.96992	-0.25;-4.09;-4.2;-4.2;-4.11	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.97529	0.9191	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.986	D;D;P	0.79108	0.992;0.964;0.807	D	0.97047	0.9761	10	0.37606	T	0.19	-23.6969	19.1947	0.93682	0.0:0.0:1.0:0.0	.	129;201;129	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	S	105;215;129;61;201;201;61;61;61	ENSP00000447569:A215S;ENSP00000335300:A129S;ENSP00000448083:A201S;ENSP00000438125:A201S;ENSP00000376350:A61S	ENSP00000335300:A129S	A	+	1	0	TPCN1	112188515	1.000000	0.71417	0.834000	0.33040	0.339000	0.28857	9.428000	0.97476	2.532000	0.85374	0.561000	0.74099	GCC		PASS	0.642	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		67	84	67	84	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124267811	124267811	+	Splice_Site	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:124267811G>T	ENST00000409039.3	+	7	841	c.816G>T	c.(814-816)caG>caT	p.Q272H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	272	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q90H(1)|p.Q272H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGACACCTCAGGTAGTTTGTG	0.532																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(814-816)CAG>CAT		dynein, axonemal, heavy chain 10							78.0	75.0	76.0					12																	124267811		2203	4300	6503	SO:0001630	splice_region_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124267811G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.816+1G>T	12.37:g.124267811G>T							p.Q272H	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	7	841	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		272			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.816G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477211	0.44044	.	.	ENSG00000197653	ENST00000409039	T	0.56103	0.48	6.01	6.01	0.97437	Dynein heavy chain, domain-1 (1);	0.178714	0.39083	N	0.001480	T	0.61073	0.2318	M	0.80028	2.48	0.58432	D	0.999995	B	0.29212	0.237	B	0.30943	0.122	T	0.59979	-0.7352	10	0.48119	T	0.1	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	272	Q8IVF4	DYH10_HUMAN	H	272	ENSP00000386770:Q272H	ENSP00000386770:Q272H	Q	+	3	2	DNAH10	122833764	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.139000	0.94554	2.861000	0.98227	0.650000	0.86243	CAG		PASS	0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	5	52	5	52	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124840062	124840062	+	Silent	SNP	T	T	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:124840062T>A	ENST00000405201.1	-	24	3297	c.3297A>T	c.(3295-3297)ccA>ccT	p.P1099P	NCOR2_ENST00000404621.1_Silent_p.P1089P|NCOR2_ENST00000404121.2_Silent_p.P660P|NCOR2_ENST00000429285.2_Silent_p.P1089P|NCOR2_ENST00000397355.1_Silent_p.P1090P|NCOR2_ENST00000356219.3_Silent_p.P1106P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1107					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P1099P(1)|p.P1106P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGATGGTGGGTGGGCGCGGCA	0.652																																						uc010tba.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(3319-3321)CCA>CCT		nuclear receptor co-repressor 2 isoform 2							50.0	71.0	64.0					12																	124840062		2107	4197	6304	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124840062T>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3297A>T	12.37:g.124840062T>A						NCOR2_uc010tay.1_Silent_p.P1106P|NCOR2_uc010taz.1_Silent_p.P1090P|NCOR2_uc010tbb.1_Silent_p.P1099P|NCOR2_uc010tbc.1_Silent_p.P1089P|NCOR2_uc001ugj.1_Silent_p.P1107P	p.P1107P	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	24	3438	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1107					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.3321A>T	CCDS41858.2																																																																																				PASS	0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		9	14	9	14	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39265581	39265581	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr13:39265581G>C	ENST00000280481.7	+	1	4316	c.4100G>C	c.(4099-4101)gGc>gCc	p.G1367A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1367					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1367A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCACACTGGGCATGAATTTT	0.393																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4099-4101)GGC>GCC		FRAS1-related extracellular matrix protein 2							66.0	64.0	65.0					13																	39265581		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265581G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4100G>C	13.37:g.39265581G>C	ENSP00000280481:p.Gly1367Ala						p.G1367A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4409	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1367			Extracellular (Potential).|CSPG 9.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4100G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982759	0.74474	.	.	ENSG00000150893	ENST00000280481	T	0.73047	-0.71	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81965	-0.0691	10	0.32370	T	0.25	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1367	Q5SZK8	FREM2_HUMAN	A	1367	ENSP00000280481:G1367A	ENSP00000280481:G1367A	G	+	2	0	FREM2	38163581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	GGC		PASS	0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		26	14	26	14	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77669539	77669539	+	Missense_Mutation	SNP	C	C	A	rs141165449		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr13:77669539C>A	ENST00000544440.2	-	58	10056	c.10039G>T	c.(10039-10041)Gat>Tat	p.D3347Y	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D3347Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D3385Y					MYC binding protein 2, E3 ubiquitin protein ligase									p.D3347Y(1)|p.E3347*(1)|p.D3385Y(1)		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)		ACAGGAAGATCCTCAGAAATG	0.428																																						uc001vkf.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10039-10041)GAT>TAT		MYC binding protein 2							109.0	100.0	103.0					13																	77669539		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77669539C>A	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.10039G>T	13.37:g.77669539C>A	ENSP00000444596:p.Asp3347Tyr					MYCBP2_uc010aev.2_Missense_Mutation_p.D2751Y|MYCBP2_uc001vke.2_5'Flank	p.D3347Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	10130	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3347						Missense_Mutation	SNP	ENST00000544440.2	37	c.10039G>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.405387	0.83230	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30448	1.53;1.53;1.53	5.88	5.88	0.94601	.	0.111852	0.64402	D	0.000011	T	0.34366	0.0895	N	0.14661	0.345	0.58432	D	0.999995	P	0.51791	0.948	P	0.54499	0.754	T	0.16188	-1.0411	10	0.66056	D	0.02	.	18.4033	0.90525	0.0:1.0:0.0:0.0	.	3347	O75592	MYCB2_HUMAN	Y	3347;3385;3347	ENSP00000349892:D3347Y;ENSP00000384288:D3385Y;ENSP00000444596:D3347Y	ENSP00000349892:D3347Y	D	-	1	0	MYCBP2	76567540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.485000	0.81204	2.789000	0.95967	0.655000	0.94253	GAT		PASS	0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		22	5	22	5	---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113832545	113832545	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr13:113832545C>G	ENST00000337344.4	-	14	1243	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	PCID2_ENST00000375457.2_Missense_Mutation_p.Q387H|PCID2_ENST00000375477.1_Missense_Mutation_p.Q389H|PCID2_ENST00000375479.2_Missense_Mutation_p.Q389H|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Missense_Mutation_p.Q443H|PCID2_ENST00000375459.1_Missense_Mutation_p.Q387H	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	389					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.Q443H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GAAATGGGTTCTGCTTGCTGA	0.527																																						uc010tju.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)CAG>CAC		PCI domain containing 2							248.0	184.0	206.0					13																	113832545		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113832545C>G	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.1167G>C	13.37:g.113832545C>G	ENSP00000337405:p.Gln389His					PCID2_uc001vtb.2_Missense_Mutation_p.Q222H|PCID2_uc010tjv.1_Missense_Mutation_p.Q389H|PCID2_uc010tjw.1_Missense_Mutation_p.Q389H|PCID2_uc001vte.2_Missense_Mutation_p.Q282H|PCID2_uc001vtd.2_Missense_Mutation_p.Q282H|PCID2_uc001vtf.2_Missense_Mutation_p.Q282H	p.Q389H	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		14	1248	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	389					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.1167G>C	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335801	0.41398	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.11	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.57571	0.98;0.975	P;P	0.60789	0.879;0.75	T	0.70303	-0.4909	9	0.56958	D	0.05	-26.1896	12.6654	0.56840	0.0:0.2774:0.0:0.7226	.	443;389	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	H	389;389;389;443;387;387;366;389;366	.	ENSP00000246505:Q443H	Q	-	3	2	PCID2	112880546	0.577000	0.26708	0.951000	0.38953	0.201000	0.24016	-0.167000	0.09940	-0.824000	0.04295	-0.812000	0.03155	CAG		PASS	0.527	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		17	25	17	25	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71524297	71524297	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr14:71524297G>T	ENST00000304743.2	+	26	5154	c.4708G>T	c.(4708-4710)Ggt>Tgt	p.G1570C	PCNX_ENST00000439984.3_Missense_Mutation_p.G1459C|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1570						integral component of membrane (GO:0016021)		p.G1570C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGCCTCTGTGGTGATTTGCT	0.388																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4708-4710)GGT>TGT		pecanex-like 1							267.0	275.0	273.0					14																	71524297		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71524297G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4708G>T	14.37:g.71524297G>T	ENSP00000304192:p.Gly1570Cys					PCNX_uc010are.1_Missense_Mutation_p.G1459C|PCNX_uc010arf.1_Intron	p.G1570C	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	26	5154	+			1570					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4708G>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337970	0.81911	.	.	ENSG00000100731	ENST00000304743;ENST00000439984	T;T	0.12774	3.03;2.65	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.57533	-0.7795	10	0.87932	D	0	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	1459;1570	B2RTR6;Q96RV3	.;PCX1_HUMAN	C	1570;1459	ENSP00000304192:G1570C;ENSP00000396617:G1459C	ENSP00000304192:G1570C	G	+	1	0	PCNX	70594050	1.000000	0.71417	0.999000	0.59377	0.651000	0.38670	9.420000	0.97426	2.623000	0.88846	0.460000	0.39030	GGT		PASS	0.388	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		6	182	6	182	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75485636	75485636	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr14:75485636G>C	ENST00000556740.1	-	11	4173	c.4138C>G	c.(4138-4140)Ctt>Gtt	p.L1380V	MLH3_ENST00000556257.1_Missense_Mutation_p.L1202V|MLH3_ENST00000238662.7_Missense_Mutation_p.L1356V|MLH3_ENST00000355774.2_Missense_Mutation_p.L1380V|MLH3_ENST00000380968.2_Missense_Mutation_p.L318V|RNU6-689P_ENST00000384197.1_RNA			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1380					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.L1380V(1)|p.L1356V(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTCAATAAGGCGGCAACTT	0.453								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4138-4140)CTT>GTT	MMR	mutL homolog 3 isoform 1							99.0	87.0	91.0					14																	75485636		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75485636G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4138C>G	14.37:g.75485636G>C	ENSP00000452316:p.Leu1380Val					MLH3_uc001xre.1_Missense_Mutation_p.L1356V	p.L1380V	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	12	4354	-			1380					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.4138C>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254544	0.39896	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.7	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.937	D	0.93511	0.6853	10	0.87932	D	0	-13.9578	16.0988	0.81152	0.0:0.0:0.8651:0.1349	.	1356;1380	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	V	1380;318;1356;1202;1380	ENSP00000348020:L1380V;ENSP00000370355:L318V;ENSP00000238662:L1356V;ENSP00000451540:L1202V;ENSP00000452316:L1380V	ENSP00000238662:L1356V	L	-	1	0	MLH3	74555389	1.000000	0.71417	0.534000	0.28014	0.008000	0.06430	5.894000	0.69806	1.393000	0.46605	0.655000	0.94253	CTT		PASS	0.453	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		11	34	11	34	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650307	93650307	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr14:93650307T>C	ENST00000556883.1	-	2	765	c.281A>G	c.(280-282)aAg>aGg	p.K94R	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.K94R|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	94					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.K94R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		gtcagggggcttaaagatcac	0.478																																						uc001ybj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(280-282)AAG>AGG		modulator of apoptosis 1							90.0	95.0	93.0					14																	93650307		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650307T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.281A>G	14.37:g.93650307T>C	ENSP00000451594:p.Lys94Arg					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.K94R	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	651	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	94					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.281A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956082	0.34471	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10192	2.9;2.9	3.34	3.34	0.38264	.	.	.	.	.	T	0.08626	0.0214	L	0.33485	1.01	0.27562	N	0.950154	P	0.36249	0.545	B	0.37451	0.25	T	0.19321	-1.0309	9	0.20046	T	0.44	-0.0868	8.4942	0.33119	0.0:0.0:0.0:1.0	.	94	Q96BY2	MOAP1_HUMAN	R	94	ENSP00000298894:K94R;ENSP00000451594:K94R	ENSP00000298894:K94R	K	-	2	0	MOAP1	92720060	1.000000	0.71417	0.864000	0.33941	0.118000	0.20060	2.457000	0.45005	1.776000	0.52262	0.529000	0.55759	AAG		PASS	0.478	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			20	40	20	40	---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96707262	96707262	+	Missense_Mutation	SNP	G	G	T	rs199831344		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr14:96707262G>T	ENST00000306005.3	+	3	793	c.597G>T	c.(595-597)aaG>aaT	p.K199N	BDKRB2_ENST00000542454.2_Missense_Mutation_p.K172N|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.K172N|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K199N	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	199					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.K199N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GGACCATGAAGGAGTACAGCG	0.597																																						uc010avm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(595-597)AAG>AAT		bradykinin receptor B2							117.0	96.0	103.0					14																	96707262		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707262G>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.597G>T	14.37:g.96707262G>T	ENSP00000307713:p.Lys199Asn					BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.K172N|BDKRB2_uc001yfg.2_Missense_Mutation_p.K199N	p.K199N	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	793	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	199			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000306005.3	37	c.597G>T	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023601	0.08006	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.72	-0.953	0.10362	GPCR, rhodopsin-like superfamily (1);	1.409140	0.03963	N	0.290389	T	0.56411	0.1983	L	0.28608	0.87	0.09310	N	1	B	0.14805	0.011	B	0.23852	0.049	T	0.46898	-0.9158	10	0.87932	D	0	-3.7791	0.9551	0.01384	0.3642:0.1518:0.3285:0.1554	.	199	P30411	BKRB2_HUMAN	N	172;199;199;172	ENSP00000439459:K172N;ENSP00000450482:K199N;ENSP00000307713:K199N;ENSP00000438376:K172N	ENSP00000307713:K199N	K	+	3	2	BDKRB2	95777015	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	-0.091000	0.11146	-0.079000	0.12707	0.561000	0.74099	AAG		PASS	0.597	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			5	35	5	35	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405270	105405270	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr14:105405270G>T	ENST00000333244.5	-	7	16637	c.16518C>A	c.(16516-16518)atC>atA	p.I5506I	AHNAK2_ENST00000557457.1_Silent_p.I504I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5506						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)		p.I5506I(1)|p.I476I(1)		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)			CTGACGTGGGGATCTCTGATT	0.453																																						uc010axc.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(16516-16518)ATC>ATA		AHNAK nucleoprotein 2							44.0	41.0	42.0					14																	105405270		1892	4114	6006	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105405270G>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.16518C>A	14.37:g.105405270G>T						AHNAK2_uc001ypx.2_Silent_p.I5406I	p.I5506I	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	16638	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5506					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.16518C>A	CCDS45177.1																																																																																				PASS	0.453	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	19	4	19	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50226290	50226290	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:50226290C>G	ENST00000284509.6	-	15	1518	c.1377G>C	c.(1375-1377)atG>atC	p.M459I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.M459I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	459						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.M459I(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGGGATCACCCATTTTAATGG	0.408																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1375-1377)ATG>ATC		ATPase class I type 8B member 4							128.0	124.0	125.0					15																	50226290		2196	4295	6491	SO:0001583	missense	79895				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.chr15:50226290C>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1377G>C	15.37:g.50226290C>G	ENSP00000284509:p.Met459Ile					ATP8B4_uc010ber.2_Missense_Mutation_p.M332I|ATP8B4_uc010ufd.1_Missense_Mutation_p.M332I|ATP8B4_uc010ufe.1_RNA	p.M459I	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1519	-		all_lung(180;0.00183)	459			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1377G>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830673	0.32329	.	.	ENSG00000104043	ENST00000284509	T	0.62639	0.01	5.93	1.8	0.24995	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.613951	0.15680	N	0.249977	T	0.31263	0.0791	N	0.03000	-0.44	0.25095	N	0.990821	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	10	0.37606	T	0.19	.	4.9958	0.14237	0.2598:0.5379:0.1265:0.0759	.	459	Q8TF62	AT8B4_HUMAN	I	459	ENSP00000284509:M459I	ENSP00000284509:M459I	M	-	3	0	ATP8B4	48013582	0.002000	0.14202	0.974000	0.42286	0.744000	0.42396	0.039000	0.13884	1.495000	0.48549	0.591000	0.81541	ATG		PASS	0.408	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		34	54	34	54	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50757333	50757333	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:50757333C>G	ENST00000396444.3	+	7	969	c.631C>G	c.(631-633)Cag>Gag	p.Q211E	USP8_ENST00000433963.1_Missense_Mutation_p.Q211E|USP8_ENST00000425032.3_Missense_Mutation_p.Q134E|USP8_ENST00000307179.4_Missense_Mutation_p.Q211E|RNA5SP395_ENST00000516567.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	211	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.Q211E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCAGGATTATCAGGATTCCTG	0.383																																						uc001zym.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(631-633)CAG>GAG		ubiquitin specific peptidase 8							111.0	92.0	98.0					15																	50757333		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50757333C>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.631C>G	15.37:g.50757333C>G	ENSP00000379721:p.Gln211Glu					USP8_uc001zyk.1_Translation_Start_Site|USP8_uc001zyl.3_Missense_Mutation_p.Q211E|USP8_uc001zyn.3_Missense_Mutation_p.Q211E|USP8_uc010ufh.1_Missense_Mutation_p.Q134E|USP8_uc010bev.1_Intron	p.Q211E	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	8	1131	+			211			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.631C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127686	0.37533	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.06	5.06	0.68205	Rhodanese-like (5);	0.470706	0.23758	N	0.044844	T	0.28599	0.0708	N	0.20986	0.625	0.47584	D	0.999465	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.15492	-1.0435	10	0.02654	T	1	-0.931	18.4381	0.90653	0.0:1.0:0.0:0.0	.	134;211	B4DKA8;P40818	.;UBP8_HUMAN	E	211;211;211;134	ENSP00000379721:Q211E;ENSP00000405537:Q211E;ENSP00000302239:Q211E;ENSP00000412682:Q134E	ENSP00000302239:Q211E	Q	+	1	0	USP8	48544625	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.318000	0.65829	2.333000	0.79357	0.650000	0.86243	CAG		PASS	0.383	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		14	57	14	57	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52902292	52902292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:52902292C>T	ENST00000261844.7	-	6	971	c.819G>A	c.(817-819)tgG>tgA	p.W273*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.W280*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	273								p.W273*(1)									GTGCCATGGTCCAAGTTTGTT	0.408																																						uc002acg.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(817-819)TGG>TGA		hypothetical protein LOC56204							176.0	144.0	154.0					15																	52902292		1921	4141	6062	SO:0001587	stop_gained	56204							g.chr15:52902292C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.819G>A	15.37:g.52902292C>T	ENSP00000261844:p.Trp273*					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.W185*|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.W280*	p.W273*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	6	972	-			273					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	ENST00000261844.7	37	c.819G>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686069	0.96784	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	5.19	5.19	0.71726	.	0.273464	0.44285	D	0.000465	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1001	0.93270	0.0:1.0:0.0:0.0	.	.	.	.	X	273;273;272;280	.	ENSP00000261844:W273X	W	-	3	0	KIAA1370	50689584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.634000	0.67833	2.565000	0.86533	0.655000	0.94253	TGG		PASS	0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		19	35	19	35	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730732	57730732	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:57730732A>G	ENST00000281282.5	+	2	613	c.535A>G	c.(535-537)Aca>Gca	p.T179A		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	179	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.T179A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAAACGTTGACAGAAGAAGG	0.458																																						uc002aeg.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(535-537)ACA>GCA		cingulin-like 1							92.0	94.0	94.0					15																	57730732		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730732A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.535A>G	15.37:g.57730732A>G	ENSP00000281282:p.Thr179Ala					CGNL1_uc010bfw.2_Missense_Mutation_p.T179A	p.T179A	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	611	+			179			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.535A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.395753	0.01175	.	.	ENSG00000128849	ENST00000281282	T	0.05319	3.46	4.86	-1.86	0.07760	.	0.285984	0.25154	N	0.032738	T	0.04952	0.0133	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42666	-0.9438	10	0.18710	T	0.47	-1.6878	7.7732	0.29021	0.2963:0.1488:0.5549:0.0	.	179	Q0VF96	CGNL1_HUMAN	A	179	ENSP00000281282:T179A	ENSP00000281282:T179A	T	+	1	0	CGNL1	55518024	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.867000	0.04241	-0.211000	0.10124	-0.263000	0.10527	ACA		PASS	0.458	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		57	101	57	101	---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64422135	64422135	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:64422135C>A	ENST00000559844.1	+	9	842	c.828C>A	c.(826-828)acC>acA	p.T276T	SNX1_ENST00000561026.1_Silent_p.T211T|SNX1_ENST00000560829.1_Silent_p.T58T|SNX1_ENST00000353874.4_Silent_p.T276T|SNX1_ENST00000261889.5_Silent_p.T276T			Q13596	SNX1_HUMAN	sorting nexin 1	276					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.T276T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCGTGGGTACCCAGACATTGA	0.468																																						uc002amv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(826-828)ACC>ACA		sorting nexin 1 isoform a							132.0	121.0	124.0					15																	64422135		2203	4300	6503	SO:0001819	synonymous_variant	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64422135C>A	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.828C>A	15.37:g.64422135C>A						SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Silent_p.T276T|SNX1_uc002amw.2_Silent_p.T276T|SNX1_uc002amx.2_Silent_p.T211T|SNX1_uc002amy.2_Silent_p.T205T|SNX1_uc010bgw.2_Silent_p.T178T	p.T276T	NM_003099	NP_003090	Q13596	SNX1_HUMAN			9	864	+			276					A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Silent	SNP	ENST00000559844.1	37	c.828C>A	CCDS32266.1																																																																																				PASS	0.468	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		6	91	6	91	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66010252	66010252	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:66010252C>T	ENST00000431932.2	-	13	1879	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	MIR4511_ENST00000582784.1_RNA|DENND4A_ENST00000443035.3_Missense_Mutation_p.M557I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	557					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)	p.M557I(2)		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						CCAAATCTATCATGTGCAACC	0.383																																						uc002aph.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1669-1671)ATG>ATA		DENN/MADD domain containing 4A isoform 2							64.0	60.0	62.0					15																	66010252		1851	4101	5952	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66010252C>T	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.1671G>A	15.37:g.66010252C>T	ENSP00000396830:p.Met557Ile					DENND4A_uc002api.2_Missense_Mutation_p.M557I|DENND4A_uc002apj.3_Missense_Mutation_p.M557I|DENND4A_uc010ujj.1_Missense_Mutation_p.M557I	p.M557I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			13	2049	-			557					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1671G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398524	0.42512	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04809	3.55;3.55	5.77	4.86	0.63082	.	0.281202	0.42420	D	0.000701	T	0.04092	0.0114	N	0.14661	0.345	0.33186	D	0.550197	B;B;B	0.17038	0.0;0.02;0.017	B;B;B	0.10450	0.0;0.005;0.004	T	0.14811	-1.0459	10	0.39692	T	0.17	.	14.9243	0.70866	0.0:0.9312:0.0:0.0688	.	557;557;557	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	I	557	ENSP00000391167:M557I;ENSP00000396830:M557I	ENSP00000396830:M557I	M	-	3	0	DENND4A	63797306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.328000	0.33758	1.447000	0.47661	0.591000	0.81541	ATG		PASS	0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		4	13	4	13	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97328309	97328309	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:97328309A>G	ENST00000328504.3	+	3	547	c.280A>G	c.(280-282)Agg>Ggg	p.R94G	SPATA8_ENST00000558553.1_Missense_Mutation_p.Q53R|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	94								p.R94G(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAAGATAAACAGGAGAAGTGT	0.453																																						uc002bue.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(280-282)AGG>GGG		spermatogenesis associated 8							160.0	148.0	152.0					15																	97328309		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97328309A>G	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.280A>G	15.37:g.97328309A>G	ENSP00000328149:p.Arg94Gly					uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.R94G	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		3	490	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		94					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.280A>G	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	A	8.416	0.845278	0.16963	.	.	ENSG00000185594	ENST00000328504	T	0.26810	1.71	3.23	0.82	0.18793	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.12837	0.008	T	0.26538	-1.0100	9	0.87932	D	0	.	2.1308	0.03749	0.5921:0.0:0.1581:0.2498	.	94	Q6RVD6	SPAT8_HUMAN	G	94	ENSP00000328149:R94G	ENSP00000328149:R94G	R	+	1	2	SPATA8	95129313	0.029000	0.19370	0.000000	0.03702	0.010000	0.07245	3.223000	0.51231	0.149000	0.19098	-0.433000	0.05886	AGG		PASS	0.453	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		36	47	36	47	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358897	102358897	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:102358897G>T	ENST00000332238.4	+	1	532	c.508G>T	c.(508-510)Ggt>Tgt	p.G170C		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACCTTTTTGTGGTCCTAATAT	0.423																																						uc010uts.1																			2	Substitution - Missense(2)		lung(2)		0						c.(508-510)GGT>TGT		olfactory receptor, family 4, subfamily F,							269.0	241.0	250.0					15																	102358897		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358897G>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.508G>T	15.37:g.102358897G>T	ENSP00000333184:p.Gly170Cys						p.G170C	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	508	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		170			Extracellular (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.508G>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.005037	0.54254	.	.	ENSG00000182854	ENST00000332238	T	0.39592	1.07	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.77850	0.4192	H	0.99090	4.425	0.33670	D	0.610859	D	0.89917	1.0	D	0.87578	0.998	D	0.88238	0.2908	9	.	.	.	.	11.6271	0.51151	0.0:0.0:0.8228:0.1772	.	170	Q8NGB8	O4F15_HUMAN	C	170	ENSP00000333184:G170C	.	G	+	1	0	OR4F15	100176420	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.449000	0.44935	2.902000	0.99343	0.650000	0.86243	GGT		PASS	0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		7	135	7	135	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	711941	711941	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:711941G>C	ENST00000293879.4	+	32	3915	c.3915G>C	c.(3913-3915)tcG>tcC	p.S1305S	WDR90_ENST00000549091.1_Silent_p.S1305S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1305								p.S1305S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGCTGACCTCGCTCTGCTACG	0.662																																						uc002cii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3913-3915)TCG>TCC		WD repeat domain 90							71.0	90.0	84.0					16																	711941		2082	4214	6296	SO:0001819	synonymous_variant	197335							g.chr16:711941G>C	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3915G>C	16.37:g.711941G>C						WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.S832S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.S479S|WDR90_uc002cin.1_5'UTR	p.S1305S	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			32	3969	+		Hepatocellular(780;0.0218)	1305			WD 15.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.3915G>C	CCDS42092.1																																																																																				PASS	0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		32	14	32	14	---	---	---	---
ABAT	18	broad.mit.edu	37	16	8868838	8868838	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:8868838C>T	ENST00000396600.2	+	13	1984	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	ABAT_ENST00000569156.1_Missense_Mutation_p.P349L|ABAT_ENST00000268251.8_Missense_Mutation_p.P349L|ABAT_ENST00000567812.1_Missense_Mutation_p.P364L|ABAT_ENST00000425191.2_Missense_Mutation_p.P349L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	349					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.P349L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGGATGACCCAGCAGACGTG	0.597																																						uc002czc.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1045-1047)CCA>CTA		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						103.0	84.0	91.0					16																	8868838		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8868838C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1046C>T	16.37:g.8868838C>T	ENSP00000379845:p.Pro349Leu					ABAT_uc002czd.3_Missense_Mutation_p.P349L|ABAT_uc010buh.2_Missense_Mutation_p.P291L|ABAT_uc010bui.2_Missense_Mutation_p.P349L	p.P349L	NM_020686	NP_065737	P80404	GABT_HUMAN			13	1212	+			349					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1046C>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217880	0.95104	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75050	-0.9;-0.9;-0.9	5.79	5.79	0.91817	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90756	0.4661	10	0.87932	D	0	-10.9914	19.0289	0.92946	0.0:1.0:0.0:0.0	.	349	P80404	GABT_HUMAN	L	349	ENSP00000268251:P349L;ENSP00000379845:P349L;ENSP00000411916:P349L	ENSP00000268251:P349L	P	+	2	0	ABAT	8776339	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	7.695000	0.84257	2.746000	0.94184	0.561000	0.74099	CCA		PASS	0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		14	26	14	26	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	10031952	10031952	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:10031952T>C	ENST00000396573.2	-	4	1180	c.871A>G	c.(871-873)Aga>Gga	p.R291G	GRIN2A_ENST00000535259.1_Missense_Mutation_p.R134G|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R291G|GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R291G|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R291G|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R291G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	291					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R291G(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCCTCACTCTCGCCTCCAGG	0.567																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(871-873)AGA>GGA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						86.0	65.0	72.0					16																	10031952		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.chr16:10031952T>C		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.871A>G	16.37:g.10031952T>C	ENSP00000379818:p.Arg291Gly					GRIN2A_uc010uym.1_Missense_Mutation_p.R291G|GRIN2A_uc010uyn.1_Missense_Mutation_p.R134G|GRIN2A_uc002czr.3_Missense_Mutation_p.R291G	p.R291G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			3	1419	-			291			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.871A>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	t	16.30	3.084294	0.55861	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	5.2	-1.91	0.07641	.	0.103040	0.64402	D	0.000008	T	0.31575	0.0801	M	0.86343	2.81	0.34230	D	0.676386	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.983;0.996;1.0	T	0.50363	-0.8837	9	.	.	.	.	18.4583	0.90729	0.0:0.0:0.7125:0.2875	.	134;291;291	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	G	291;291;134;291;291	ENSP00000379818:R291G;ENSP00000385872:R291G;ENSP00000441572:R134G;ENSP00000332549:R291G;ENSP00000379820:R291G	.	R	-	1	2	GRIN2A	9939453	0.028000	0.19301	0.006000	0.13384	0.864000	0.49448	0.137000	0.15995	-0.575000	0.05982	0.459000	0.35465	AGA		PASS	0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			16	8	16	8	---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16302587	16302587	+	Silent	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:16302587C>G	ENST00000205557.7	-	7	821	c.792G>C	c.(790-792)cgG>cgC	p.R264R	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	264					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R264R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCACTTACCTCCGGGCTGCAC	0.532																																						uc002den.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(790-792)CGG>CGC		ATP-binding cassette, sub-family C, member 6							98.0	89.0	92.0					16																	16302587		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16302587C>G	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.792G>C	16.37:g.16302587C>G						ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.R276R	p.R264R	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	7	829	-			264			Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.792G>C	CCDS10568.1																																																																																				PASS	0.532	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			18	46	18	46	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847327	18847327	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:18847327T>C	ENST00000446231.2	-	48	8397	c.7985A>G	c.(7984-7986)gAa>gGa	p.E2662G	SMG1_ENST00000389467.3_Missense_Mutation_p.E2662G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2662					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E2662G(1)|p.E2658G(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCCACTGTTCAATTCGATG	0.478																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(7984-7986)GAA>GGA		PI-3-kinase-related kinase SMG-1							64.0	59.0	60.0					16																	18847327		1990	4163	6153	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18847327T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7985A>G	16.37:g.18847327T>C	ENSP00000402515:p.Glu2662Gly					SMG1_uc010bwb.2_Missense_Mutation_p.E2522G|SMG1_uc010bwa.2_Missense_Mutation_p.E1393G	p.E2662G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			48	8348	-			2662					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7985A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529530	0.64860	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01059	5.39;5.39	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.00875	0.0029	N	0.08118	0	0.45867	D	0.998729	P	0.37466	0.596	B	0.29785	0.107	T	0.80386	-0.1404	10	0.26408	T	0.33	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	2662	Q96Q15	SMG1_HUMAN	G	2662	ENSP00000402515:E2662G;ENSP00000374118:E2662G	ENSP00000374118:E2662G	E	-	2	0	SMG1	18754828	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.782000	0.85680	2.281000	0.76405	0.533000	0.62120	GAA		PASS	0.478	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		8	4	8	4	---	---	---	---
GPRC5B	51704	broad.mit.edu	37	16	19883784	19883784	+	Silent	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:19883784G>T	ENST00000300571.2	-	2	575	c.384C>A	c.(382-384)ctC>ctA	p.L128L	GPRC5B_ENST00000537135.1_Silent_p.L154L|GPRC5B_ENST00000569479.1_Silent_p.L128L|GPRC5B_ENST00000569847.1_Silent_p.L128L|GPRC5B_ENST00000535671.1_Silent_p.L128L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	128					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.L128L(1)		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						GGACGCCCCAGAGGAAGCGGC	0.662																																						uc002dgt.2																			1	Substitution - coding silent(1)	p.L128F(1)	lung(1)	lung(1)|breast(1)|skin(1)	3						c.(382-384)CTC>CTA		G protein-coupled receptor, family C, group 5,							26.0	24.0	24.0					16																	19883784		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883784G>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.384C>A	16.37:g.19883784G>T						GPRC5B_uc010vav.1_Silent_p.L154L	p.L128L	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			2	492	-			128			Helical; Name=3; (Potential).		D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.384C>A	CCDS10581.1																																																																																				PASS	0.662	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			4	9	4	9	---	---	---	---
CCDC113	29070	broad.mit.edu	37	16	58293772	58293772	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:58293772G>C	ENST00000219299.4	+	5	640	c.561G>C	c.(559-561)gaG>gaC	p.E187D	CCDC113_ENST00000443128.2_Missense_Mutation_p.E133D	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	187						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E187D(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATATGAAGGAGAAATTACGTT	0.348																																						uc002ene.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GAG>GAC		coiled-coil domain containing 113 isoform 1							77.0	81.0	79.0					16																	58293772		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58293772G>C	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.561G>C	16.37:g.58293772G>C	ENSP00000219299:p.Glu187Asp					CCDC113_uc010vid.1_Missense_Mutation_p.E133D	p.E187D	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			5	640	+			187			Potential.		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.561G>C	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	3.101	-0.184821	0.06340	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32272	1.47;1.46	5.1	0.16	0.14972	.	0.276677	0.39407	N	0.001362	T	0.09686	0.0238	N	0.04335	-0.225	0.23249	N	0.998041	B;B	0.06786	0.0;0.001	B;B	0.09377	0.003;0.004	T	0.32666	-0.9898	10	0.07644	T	0.81	-16.3856	5.2565	0.15550	0.0:0.3435:0.16:0.4964	.	133;187	B4DR20;Q9H0I3	.;CC113_HUMAN	D	133;187	ENSP00000402588:E133D;ENSP00000219299:E187D	ENSP00000219299:E187D	E	+	3	2	CCDC113	56851273	0.871000	0.30034	0.996000	0.52242	0.778000	0.44026	-0.366000	0.07563	-0.281000	0.09141	-1.268000	0.01426	GAG		PASS	0.348	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		10	23	10	23	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61891136	61891136	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:61891136G>A	ENST00000577390.1	-	4	1508	c.554C>T	c.(553-555)tCt>tTt	p.S185F	CDH8_ENST00000299345.6_Missense_Mutation_p.S185F|CDH8_ENST00000577730.1_Missense_Mutation_p.S185F|CDH8_ENST00000584337.1_Missense_Mutation_p.S185F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.S185F(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTTAGTGACAGATGTACCTAA	0.353																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(553-555)TCT>TTT		cadherin 8, type 2 preproprotein							58.0	54.0	56.0					16																	61891136		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891136G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.554C>T	16.37:g.61891136G>A	ENSP00000462701:p.Ser185Phe					CDH8_uc002eoh.2_5'UTR	p.S185F	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	806	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	185			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.554C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837460	0.16891	.	.	ENSG00000150394	ENST00000299345	T	0.52754	0.65	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.210963	0.52532	D	0.000078	T	0.33933	0.0880	L	0.39085	1.19	0.39941	D	0.974415	B	0.02656	0.0	B	0.06405	0.002	T	0.23332	-1.0191	10	0.27082	T	0.32	.	6.8833	0.24185	0.0827:0.0:0.6147:0.3026	.	185	P55286	CADH8_HUMAN	F	185	ENSP00000299345:S185F	ENSP00000299345:S185F	S	-	2	0	CDH8	60448637	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.780000	0.47742	2.710000	0.92621	0.557000	0.71058	TCT		PASS	0.353	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		11	25	11	25	---	---	---	---
CKLF	51192	broad.mit.edu	37	16	66592182	66592182	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:66592182C>G	ENST00000264001.4	+	2	317	c.168C>G	c.(166-168)atC>atG	p.I56M	CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.I56M|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000345436.4_Missense_Mutation_p.I56M|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Intron	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	56	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)	p.I56M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCACCGTTATCTTATTTTTCA	0.338																																						uc002eow.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)ATC>ATG		chemokine-like factor isoform a							199.0	204.0	202.0					16																	66592182		2201	4300	6501	SO:0001583	missense	51192				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity	g.chr16:66592182C>G	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.168C>G	16.37:g.66592182C>G	ENSP00000264001:p.Ile56Met					CKLF_uc002eox.1_Missense_Mutation_p.I56M|CKLF_uc002eot.2_Missense_Mutation_p.I56M|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron	p.I56M	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	2	315	+		Ovarian(137;0.0563)	56			Helical; (Potential).|MARVEL.		C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.168C>G	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	C	4.210	0.037702	0.08148	.	.	ENSG00000217555	ENST00000264001;ENST00000345436;ENST00000361141;ENST00000417030	T;T	0.50277	0.75;0.82	5.05	2.72	0.32119	Marvel (1);	.	.	.	.	T	0.39572	0.1083	L	0.50333	1.59	0.09310	N	1	P;P;P	0.47677	0.828;0.828;0.899	B;B;B	0.42593	0.392;0.392;0.392	T	0.28235	-1.0050	9	0.51188	T	0.08	-6.3318	4.6786	0.12724	0.0:0.102:0.2111:0.6869	.	56;56;56	Q9UBR5-5;Q9UBR5;Q9UBR5-4	.;CKLF_HUMAN;.	M	56	ENSP00000264001:I56M;ENSP00000416678:I56M	ENSP00000264001:I56M	I	+	3	3	CKLF	65149683	0.010000	0.17322	0.105000	0.21289	0.071000	0.16799	0.819000	0.27308	0.950000	0.37743	-0.247000	0.11927	ATC		PASS	0.338	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		33	51	33	51	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338045	68338045	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:68338045G>T	ENST00000263997.6	-	3	580	c.562C>A	c.(562-564)Cag>Aag	p.Q188K		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	188					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q188K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TGTTCTTCCTGGCGCCTGACT	0.493																																						uc002evw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)CAG>AAG		solute carrier family 7, member 6 opposite							213.0	197.0	203.0					16																	68338045		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68338045G>T		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.562C>A	16.37:g.68338045G>T	ENSP00000263997:p.Gln188Lys						p.Q188K	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	3	581	-		Ovarian(137;0.192)	188					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.562C>A	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296130	0.40594	.	.	ENSG00000103061	ENST00000263997	T	0.17054	2.3	5.79	5.79	0.91817	.	0.352396	0.33327	N	0.005021	T	0.18551	0.0445	L	0.56769	1.78	0.34229	D	0.676336	B	0.33171	0.4	B	0.27170	0.077	T	0.17745	-1.0359	10	0.18710	T	0.47	-0.204	17.528	0.87807	0.0:0.0:1.0:0.0	.	188	Q96CW6	S7A6O_HUMAN	K	188	ENSP00000263997:Q188K	ENSP00000263997:Q188K	Q	-	1	0	SLC7A6OS	66895546	0.045000	0.20229	0.359000	0.25824	0.532000	0.34746	1.270000	0.33086	2.753000	0.94483	0.555000	0.69702	CAG		PASS	0.493	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		5	84	5	84	---	---	---	---
CALB2	794	broad.mit.edu	37	16	71417890	71417890	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr16:71417890G>A	ENST00000302628.4	+	7	572	c.495G>A	c.(493-495)ttG>ttA	p.L165L	CALB2_ENST00000349553.5_Silent_p.L165L	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	165	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)	p.L165L(1)		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)				TGTTTGACTTGAACGGGGATG	0.532																																						uc002faa.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)TTG>TTA		calbindin 2 isoform 1							199.0	177.0	185.0					16																	71417890		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71417890G>A	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.495G>A	16.37:g.71417890G>A						CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.L165L	p.L165L	NM_001740	NP_001731	P22676	CALB2_HUMAN			7	565	+		Ovarian(137;0.125)	165			4 (Probable).|EF-hand 4.		A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	c.495G>A	CCDS10899.1																																																																																				PASS	0.532	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		51	19	51	19	---	---	---	---
SPATA22	84690	broad.mit.edu	37	17	3352127	3352127	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:3352127C>A	ENST00000573128.1	-	6	1129	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	SPATA22_ENST00000572969.1_Missense_Mutation_p.D216Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D216Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D216Y|SPATA22_ENST00000541913.1_Missense_Mutation_p.D200Y|SPATA22_ENST00000397168.3_Missense_Mutation_p.D216Y|SPATA22_ENST00000355380.4_Missense_Mutation_p.D173Y			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	216					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.D216Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCTGGAATATCATCCAACATT	0.303																																						uc002fvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GAT>TAT		spermatogenesis associated 22							74.0	76.0	75.0					17																	3352127		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3352127C>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.646G>T	17.37:g.3352127C>A	ENSP00000459580:p.Asp216Tyr					SPATA22_uc010vrg.1_Missense_Mutation_p.D200Y|SPATA22_uc010vrf.1_Missense_Mutation_p.D216Y|SPATA22_uc002fvn.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvo.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvp.2_Missense_Mutation_p.D216Y|SPATA22_uc010ckf.2_Missense_Mutation_p.D173Y	p.D216Y	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			6	883	-			216					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.646G>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606264	0.28623	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.20069	2.12;2.14;2.1;2.13	4.82	1.63	0.23807	.	0.682481	0.13258	N	0.401468	T	0.23846	0.0577	N	0.24115	0.695	0.09310	N	1	D;D;P;D	0.89917	0.997;1.0;0.904;0.997	P;D;P;P	0.68943	0.875;0.961;0.509;0.875	T	0.08597	-1.0714	10	0.54805	T	0.06	-7.5847	2.5044	0.04641	0.153:0.5207:0.149:0.1773	.	200;216;173;216	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	Y	173;216;216;200	ENSP00000347541:D173Y;ENSP00000380354:D216Y;ENSP00000268981:D216Y;ENSP00000441920:D200Y	ENSP00000268981:D216Y	D	-	1	0	SPATA22	3298877	0.000000	0.05858	0.031000	0.17742	0.378000	0.30076	-0.231000	0.09069	0.549000	0.28973	-0.258000	0.10820	GAT		PASS	0.303	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		36	16	36	16	---	---	---	---
SLC35G6	643664	broad.mit.edu	37	17	7386172	7386172	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:7386172T>C	ENST00000412468.2	+	2	984	c.869T>C	c.(868-870)gTg>gCg	p.V290A	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	290	EamA 2.					integral component of membrane (GO:0016021)		p.V290A(1)									CATTCCGAGGTGGTGGTGGCC	0.592																																						uc010cmj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)GTG>GCG		acyl-malonyl condensing enzyme 1-like 3							192.0	179.0	184.0					17																	7386172		2203	4300	6503	SO:0001583	missense	643664					integral to membrane		g.chr17:7386172T>C		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.869T>C	17.37:g.7386172T>C	ENSP00000396523:p.Val290Ala					ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.V290A	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	984	+		Prostate(122;0.173)	290			DUF6 2.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000412468.2	37	c.869T>C	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679313	0.68042	.	.	ENSG00000181222	ENST00000412468	T	0.52754	0.65	4.38	4.38	0.52667	.	.	.	.	.	T	0.50565	0.1623	N	0.14661	0.345	0.42178	D	0.991671	D	0.69078	0.997	D	0.79108	0.992	T	0.58951	-0.7545	9	0.87932	D	0	-5.9244	12.8896	0.58064	0.0:0.0:0.0:1.0	.	290	P0C7Q6	S35G6_HUMAN	A	290	ENSP00000396523:V290A	ENSP00000396523:V290A	V	+	2	0	SLC35G6	7326896	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	6.270000	0.72563	1.756000	0.51951	0.482000	0.46254	GTG		PASS	0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		15	94	15	94	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Missense_Mutation	SNP	G	G	C	rs397516436		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:7578212G>C	ENST00000269305.4	-	6	826	c.637C>G	c.(637-639)Cga>Gga	p.R213G	TP53_ENST00000455263.2_Missense_Mutation_p.R213G|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R213G|TP53_ENST00000445888.2_Missense_Mutation_p.R213G|TP53_ENST00000359597.4_Missense_Mutation_p.R213G|TP53_ENST00000413465.2_Missense_Mutation_p.R213G	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	CM951226	TP53	M		c.(637-639)CGA>GGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>G	17.37:g.7578212G>C	ENSP00000269305:p.Arg213Gly	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.R213G|TP53_uc002gih.2_Missense_Mutation_p.R213G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81G|TP53_uc010cng.1_Missense_Mutation_p.R81G|TP53_uc002gii.1_Missense_Mutation_p.R81G|TP53_uc010cnh.1_Missense_Mutation_p.R213G|TP53_uc010cni.1_Missense_Mutation_p.R213G|TP53_uc002gij.2_Missense_Mutation_p.R213G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120G|TP53_uc002gio.2_Missense_Mutation_p.R81G|TP53_uc010vug.1_Missense_Mutation_p.R174G	p.R213G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	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.637C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847011	0.91277	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.28	3.25	0.37280	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99849	0.9930	M	0.88640	2.97	0.49213	D	0.999763	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;0.999;0.997;0.993;0.999	D	0.97122	0.9812	10	0.87932	D	0	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213G;ENSP00000352610:R213G;ENSP00000269305:R213G;ENSP00000398846:R213G;ENSP00000391127:R213G;ENSP00000391478:R213G;ENSP00000425104:R81G;ENSP00000423862:R120G	ENSP00000269305:R213G	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	11	10	11	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10309369	10309369	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:10309369C>A	ENST00000403437.2	-	21	2515	c.2421G>T	c.(2419-2421)atG>atT	p.M807I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	807	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.M807I(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTTTGCAACATCTTCTGAT	0.358									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2419-2421)ATG>ATT		myosin, heavy chain 8, skeletal muscle,							161.0	156.0	158.0					17																	10309369		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309369C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2421G>T	17.37:g.10309369C>A	ENSP00000384330:p.Met807Ile					uc002gml.1_Intron	p.M807I	NM_002472	NP_002463	P13535	MYH8_HUMAN			21	2516	-			807			IQ.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2421G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652783	0.29336	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93019	-3.15	5.22	5.22	0.72569	.	0.000000	0.50627	U	0.000110	D	0.91543	0.7329	L	0.58354	1.805	0.47441	D	0.999425	B	0.06786	0.001	B	0.09377	0.004	D	0.87397	0.2367	10	0.20519	T	0.43	.	18.9728	0.92722	0.0:1.0:0.0:0.0	.	807	P13535	MYH8_HUMAN	I	807	ENSP00000384330:M807I	ENSP00000252173:M807I	M	-	3	0	MYH8	10250094	0.011000	0.17503	1.000000	0.80357	0.995000	0.86356	0.222000	0.17699	2.732000	0.93576	0.650000	0.86243	ATG		PASS	0.358	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		22	19	22	19	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11738145	11738145	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:11738145G>A	ENST00000262442.4	+	49	9505	c.9437G>A	c.(9436-9438)tGt>tAt	p.C3146Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.C3146Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3146	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)	p.C3146Y(1)		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)		CAGAAGGACTGTGAGGAGGAC	0.547																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9436-9438)TGT>TAT		dynein, axonemal, heavy chain 9 isoform 2							147.0	103.0	118.0					17																	11738145		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.chr17:11738145G>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.9437G>A	17.37:g.11738145G>A	ENSP00000262442:p.Cys3146Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.C2440Y	p.C3146Y	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	9505	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3146			Stalk (By similarity).|Potential.		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9437G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404771	0.83230	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.81247	-1.47;-1.47	5.17	5.17	0.71159	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95957	0.8959	10	0.87932	D	0	.	18.8759	0.92334	0.0:0.0:1.0:0.0	.	3146	Q9NYC9	DYH9_HUMAN	Y	3146;3146;1728	ENSP00000262442:C3146Y;ENSP00000414874:C3146Y	ENSP00000262442:C3146Y	C	+	2	0	DNAH9	11678870	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.087000	0.71362	2.683000	0.91414	0.655000	0.94253	TGT		PASS	0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		15	13	15	13	---	---	---	---
ALDH3A1	218	broad.mit.edu	37	17	19646725	19646725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:19646725C>A	ENST00000457500.2	-	2	543	c.214G>T	c.(214-216)Gag>Tag	p.E72*	ALDH3A1_ENST00000395555.3_Nonsense_Mutation_p.E72*|ALDH3A1_ENST00000225740.6_Nonsense_Mutation_p.E72*|ALDH3A1_ENST00000444455.1_Nonsense_Mutation_p.E72*|ALDH3A1_ENST00000494157.2_5'UTR|ALDH3A1_ENST00000485231.1_5'UTR	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	72					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.E72*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		ATCATGTACTCGATCTCCTCT	0.607																																						uc010cqu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(214-216)GAG>TAG		aldehyde dehydrogenase 3A1	NADH(DB00157)						136.0	122.0	127.0					17																	19646725		2203	4300	6503	SO:0001587	stop_gained	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19646725C>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.214G>T	17.37:g.19646725C>A	ENSP00000411821:p.Glu72*					ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwk.2_5'UTR|ALDH3A1_uc002gwl.1_5'UTR	p.E72*	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	2	544	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		72					A8K828|Q9BT37	Nonsense_Mutation	SNP	ENST00000457500.2	37	c.214G>T	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340955	0.41498	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000439102;ENST00000426645	.	.	.	4.82	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.4137	0.32659	0.0:0.7627:0.1527:0.0846	.	.	.	.	X	72;72;130;72;72;72;72	.	ENSP00000225740:E72X	E	-	1	0	ALDH3A1	19587317	0.516000	0.26218	0.010000	0.14722	0.220000	0.24768	2.067000	0.41461	2.232000	0.73038	0.655000	0.94253	GAG		PASS	0.607	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		5	95	5	95	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27809300	27809300	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:27809300G>C	ENST00000261716.3	+	8	1168	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E217Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.E217Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AACATGTATTGAACTAGGTAA	0.323																																						uc002hdz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(649-651)GAA>CAA		TAO kinase 1							174.0	154.0	161.0					17																	27809300		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27809300G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.649G>C	17.37:g.27809300G>C	ENSP00000261716:p.Glu217Gln					TAOK1_uc010wbe.1_Missense_Mutation_p.E217Q|TAOK1_uc010wbf.1_Missense_Mutation_p.E217Q|TAOK1_uc002heb.1_Missense_Mutation_p.E43Q	p.E217Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		8	843	+			217			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.649G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087146	0.94100	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.70045	-0.45;1.25	5.49	5.49	0.81192	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	0.83115	0.5184	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.84866	0.0822	10	0.87932	D	0	.	19.3752	0.94505	0.0:0.0:1.0:0.0	.	217;43;217	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	Q	217	ENSP00000261716:E217Q;ENSP00000438819:E217Q	ENSP00000261716:E217Q	E	+	1	0	TAOK1	24833426	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.771000	0.98977	2.576000	0.86940	0.591000	0.81541	GAA		PASS	0.323	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		20	107	20	107	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749131	33749131	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:33749131C>A	ENST00000394562.1	-	4	1440	c.917G>T	c.(916-918)aGa>aTa	p.R306I	SLFN12_ENST00000452764.3_Missense_Mutation_p.R306I|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.R306I			Q8IYM2	SLN12_HUMAN	schlafen family member 12	306							ATP binding (GO:0005524)	p.R306I(1)		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)		GCGCTCCACTCTGAGTGCACA	0.433																																						uc002hji.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(916-918)AGA>ATA		schlafen family member 12							84.0	80.0	81.0					17																	33749131		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749131C>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.917G>T	17.37:g.33749131C>A	ENSP00000378063:p.Arg306Ile					SLFN12_uc002hjj.3_Missense_Mutation_p.R306I|SLFN12_uc010cts.2_Missense_Mutation_p.R306I	p.R306I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1294	-		Ovarian(249;0.17)	306					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.917G>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992062	0.74703	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.31247	1.5;1.5;1.5	3.49	-1.88	0.07713	.	.	.	.	.	T	0.38214	0.1032	M	0.72894	2.215	0.09310	N	0.999999	P	0.50369	0.934	P	0.50314	0.637	T	0.32613	-0.9900	9	0.72032	D	0.01	.	7.5707	0.27907	0.0:0.4966:0.0:0.5034	.	306	Q8IYM2	SLN12_HUMAN	I	306	ENSP00000378063:R306I;ENSP00000302077:R306I;ENSP00000394903:R306I	ENSP00000302077:R306I	R	-	2	0	SLFN12	30773244	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.093000	0.11111	-0.556000	0.06134	-0.436000	0.05848	AGA		PASS	0.433	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		5	42	5	42	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34942339	34942339	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:34942339C>T	ENST00000304718.4	+	11	1752	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	479					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.S479F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAACAGGTTCTCGGGAGGGT	0.423																																						uc002hnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1435-1437)TCT>TTT		zinc finger protein 403							157.0	159.0	159.0					17																	34942339		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34942339C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1436C>T	17.37:g.34942339C>T	ENSP00000307617:p.Ser479Phe					GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S308F	p.S479F	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	11	1685	+		Breast(25;0.00957)|Ovarian(249;0.17)	479					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1436C>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844290	0.91197	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	T	0.70930	-0.4738	9	0.87932	D	0	-11.3248	19.8729	0.96856	0.0:1.0:0.0:0.0	.	479;479	A8K3S2;Q9H3C7	.;GGNB2_HUMAN	F	479	.	ENSP00000307617:S479F	S	+	2	0	GGNBP2	32016452	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.194000	0.77789	2.699000	0.92147	0.561000	0.74099	TCT		PASS	0.423	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		20	27	20	27	---	---	---	---
PNMT	5409	broad.mit.edu	37	17	37826627	37826627	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:37826627G>T	ENST00000269582.2	+	3	1152	c.834G>T	c.(832-834)caG>caT	p.Q278H	PNMT_ENST00000394246.1_Missense_Mutation_p.Q180H	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	278					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.Q278H(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGGGCTCAGAAGGTTGGGC	0.562																																						uc002hsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)CAG>CAT		phenylethanolamine N-methyltransferase							25.0	21.0	23.0					17																	37826627		2203	4299	6502	SO:0001583	missense	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37826627G>T		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.834G>T	17.37:g.37826627G>T	ENSP00000269582:p.Gln278His						p.Q278H	NM_002686	NP_002677	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	1056	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		278						Missense_Mutation	SNP	ENST00000269582.2	37	c.834G>T	CCDS11343.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044855	0.55110	.	.	ENSG00000141744	ENST00000394246;ENST00000269582	T;T	0.04194	3.68;3.68	4.92	3.95	0.45737	.	0.415901	0.24134	N	0.041222	T	0.15782	0.0380	M	0.76002	2.32	0.80722	D	1	D	0.67145	0.996	P	0.59643	0.861	T	0.00350	-1.1797	10	0.72032	D	0.01	-23.5878	10.2494	0.43360	0.1666:0.0:0.8334:0.0	.	278	P11086	PNMT_HUMAN	H	180;278	ENSP00000377791:Q180H;ENSP00000269582:Q278H	ENSP00000269582:Q278H	Q	+	3	2	PNMT	35080153	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	2.209000	0.42806	1.068000	0.40764	0.491000	0.48974	CAG		PASS	0.562	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		3	5	3	5	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40842122	40842122	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:40842122C>A	ENST00000264638.4	+	12	1969	c.1752C>A	c.(1750-1752)tcC>tcA	p.S584S	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	584	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S584S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATAAGGAATCCTGTGAGGCTT	0.512																																						uc002iay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(1750-1752)TCC>TCA		contactin associated protein 1 precursor							153.0	155.0	154.0					17																	40842122		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40842122C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1752C>A	17.37:g.40842122C>A						CNTNAP1_uc010wgs.1_RNA	p.S584S	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	12	1968	+		Breast(137;0.000143)	584			Extracellular (Potential).|Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.1752C>A	CCDS11436.1																																																																																				PASS	0.512	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		6	115	6	115	---	---	---	---
MAP3K14	9020	broad.mit.edu	37	17	43350976	43350976	+	RNA	SNP	T	T	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:43350976T>A	ENST00000344686.2	-	0	1658							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.?(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTTGTCAGCTGCCAGGCCGC	0.617																																						uc002iiw.1																			1	Unknown(1)		lung(1)	central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.e10-1		mitogen-activated protein kinase kinase kinase							19.0	21.0	21.0					17																	43350976		2078	4187	6265			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43350976T>A	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43350976T>A						MAP3K14_uc002iiu.1_Silent_p.A47A|MAP3K14_uc010daj.1_Splice_Site|MAP3K14_uc002iiv.1_Splice_Site_p.A102_splice	p.A518_splice	NM_003954	NP_003945	Q99558	M3K14_HUMAN			10	1662	-								A8K2D8|D3DX67|Q8IYN1	Splice_Site	SNP	ENST00000344686.2	37	c.1553_splice		.	.	.	.	.	.	.	.	.	.	T	21.1	4.096304	0.76870	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1655	0.72821	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K14	40706759	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	8.008000	0.88588	2.179000	0.69175	0.459000	0.35465	.		PASS	0.617	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		7	13	7	13	---	---	---	---
CCDC47	57003	broad.mit.edu	37	17	61824274	61824274	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:61824274C>G	ENST00000225726.5	-	13	1801	c.1419G>C	c.(1417-1419)atG>atC	p.M473I	RP11-51F16.8_ENST00000580553.1_Intron|CCDC47_ENST00000403162.3_Missense_Mutation_p.M473I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	473					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.M473I(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GTTTCATTTTCATTTGCTTCT	0.413																																						uc002jbs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)ATG>ATC		coiled-coil domain containing 47 precursor							284.0	230.0	248.0					17																	61824274		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61824274C>G	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1419G>C	17.37:g.61824274C>G	ENSP00000225726:p.Met473Ile					CCDC47_uc010ddx.2_Missense_Mutation_p.M473I	p.M473I	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			13	1755	-			473			Potential.		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.1419G>C	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.304985	0.40795	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.87	5.87	0.94306	.	0.066114	0.85682	D	0.000000	T	0.54398	0.1856	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45687	-0.9244	9	0.18710	T	0.47	-21.861	19.5705	0.95413	0.0:1.0:0.0:0.0	.	473	Q96A33	CCD47_HUMAN	I	473	.	ENSP00000225726:M473I	M	-	3	0	CCDC47	59178006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.820000	0.75267	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.413	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		15	43	15	43	---	---	---	---
QRICH2	84074	broad.mit.edu	37	17	74287975	74287975	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr17:74287975C>A	ENST00000262765.5	-	4	2514	c.2335G>T	c.(2335-2337)Ggt>Tgt	p.G779C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	779								p.G779C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AAATATGCACCAGGTTGTACC	0.498																																						uc002jrd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2335-2337)GGT>TGT		glutamine rich 2							176.0	171.0	172.0					17																	74287975		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287975C>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2335G>T	17.37:g.74287975C>A	ENSP00000262765:p.Gly779Cys					QRICH2_uc010wsz.1_Missense_Mutation_p.G705C|QRICH2_uc010dgw.1_Intron	p.G779C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	2515	-			779					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.2335G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857607	0.32791	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.19532	2.14	4.66	3.68	0.42216	.	.	.	.	.	T	0.46054	0.1373	M	0.78801	2.425	0.21220	N	0.999755	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.967	T	0.27365	-1.0076	9	0.72032	D	0.01	.	11.2649	0.49104	0.0:0.8153:0.1847:0.0	.	779;779	B5MD94;Q9H0J4	.;QRIC2_HUMAN	C	779	ENSP00000262765:G779C	ENSP00000262765:G779C	G	-	1	0	QRICH2	71799570	0.000000	0.05858	0.080000	0.20451	0.052000	0.14988	0.085000	0.14912	1.061000	0.40601	0.448000	0.29417	GGT		PASS	0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		6	138	6	138	---	---	---	---
NDC80	10403	broad.mit.edu	37	18	2595474	2595474	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:2595474C>A	ENST00000261597.4	+	11	1257	c.1075C>A	c.(1075-1077)Cag>Aag	p.Q359K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	359	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.Q359K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CATTGACAACCAGAAGTACTC	0.333																																						uc002kli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)CAG>AAG		kinetochore associated 2							69.0	71.0	70.0					18																	2595474		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2595474C>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1075C>A	18.37:g.2595474C>A	ENSP00000261597:p.Gln359Lys						p.Q359K	NM_006101	NP_006092	O14777	NDC80_HUMAN			11	1257	+			359			Interaction with the N-terminus of CDCA1.|Potential.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1075C>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050282	0.75846	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.61859	0.07	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.66939	2.045	0.58432	D	0.999995	P	0.49635	0.926	P	0.45377	0.478	T	0.65747	-0.6093	10	0.45353	T	0.12	-11.8265	19.611	0.95606	0.0:1.0:0.0:0.0	.	359	O14777	NDC80_HUMAN	K	359	ENSP00000261597:Q359K	ENSP00000261597:Q359K	Q	+	1	0	NDC80	2585474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.519000	0.73768	2.625000	0.88918	0.650000	0.86243	CAG		PASS	0.333	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		5	70	5	70	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2740761	2740761	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:2740761C>G	ENST00000320876.6	+	28	3913	c.3575C>G	c.(3574-3576)tCt>tGt	p.S1192C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1192C|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1192					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1192C(2)|p.S640C(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTTCTTTATCTTCTTTGTCA	0.303																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(3574-3576)TCT>TGT		structural maintenance of chromosomes flexible							122.0	121.0	121.0					18																	2740761		1808	4055	5863	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2740761C>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3575C>G	18.37:g.2740761C>G	ENSP00000326603:p.Ser1192Cys					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.S1192C	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			28	3764	+			1192					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3575C>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445875	0.43429	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24908	1.83;1.83	5.33	4.41	0.53225	.	0.650884	0.16477	N	0.212689	T	0.17874	0.0429	N	0.22421	0.69	0.28592	N	0.909574	P	0.50369	0.934	B	0.40702	0.338	T	0.06041	-1.0849	10	0.62326	D	0.03	-18.1616	11.021	0.47718	0.2608:0.6337:0.1056:0.0	.	1192	A6NHR9	SMHD1_HUMAN	C	1192	ENSP00000326603:S1192C;ENSP00000261598:S1192C	ENSP00000261598:S1192C	S	+	2	0	SMCHD1	2730761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.349000	0.33998	2.654000	0.90174	0.650000	0.86243	TCT		PASS	0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			16	43	16	43	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5891948	5891948	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:5891948C>T	ENST00000581347.2	-	3	760	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	TMEM200C_ENST00000383490.2_Missense_Mutation_p.V39M|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	39						integral component of membrane (GO:0016021)		p.V39M(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						ACCACCACCACGTCGTTCTTG	0.607																																						uc002kmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GTG>ATG		transmembrane protein 200C							96.0	105.0	102.0					18																	5891948		2175	4268	6443	SO:0001583	missense	645369					integral to membrane		g.chr18:5891948C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.115G>A	18.37:g.5891948C>T	ENSP00000463375:p.Val39Met						p.V39M	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	156	-			39						Missense_Mutation	SNP	ENST00000581347.2	37	c.115G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674684	0.88445	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.73217	2.22	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.81972	-0.0688	9	0.87932	D	0	-5.7142	18.2993	0.90158	0.0:1.0:0.0:0.0	.	39	A6NKL6	T200C_HUMAN	M	39	.	ENSP00000372982:V39M	V	-	1	0	TMEM200C	5881948	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.915000	0.69973	2.376000	0.81061	0.557000	0.71058	GTG		PASS	0.607	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		8	24	8	24	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21819282	21819282	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:21819282G>A	ENST00000319481.3	-	16	1552	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T67M|OSBPL1A_ENST00000399443.3_De_novo_Start_InFrame	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	449					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.T449M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AGTGGCCAGCGTCTCCAGTGC	0.443																																						uc002kve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1345-1347)ACG>ATG		oxysterol-binding protein-like 1A isoform B							128.0	104.0	112.0					18																	21819282		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21819282G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1346C>T	18.37:g.21819282G>A	ENSP00000320291:p.Thr449Met					OSBPL1A_uc002kvd.2_Translation_Start_Site|OSBPL1A_uc010xbc.1_Missense_Mutation_p.T67M|OSBPL1A_uc002kvf.3_Missense_Mutation_p.T229M	p.T449M	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			16	1520	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		449			Potential.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.1346C>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090795	0.55968	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.46451	0.87;0.89	5.84	4.96	0.65561	.	0.152285	0.64402	D	0.000020	T	0.48909	0.1526	M	0.65975	2.015	0.80722	D	1	P;P	0.40266	0.71;0.71	B;B	0.42386	0.386;0.312	T	0.52442	-0.8575	10	0.51188	T	0.08	-3.0192	16.9957	0.86367	0.0:0.1276:0.8724:0.0	.	449;449	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	M	449;67	ENSP00000320291:T449M;ENSP00000349545:T67M	ENSP00000320291:T449M	T	-	2	0	OSBPL1A	20073280	1.000000	0.71417	0.716000	0.30569	0.988000	0.76386	6.333000	0.72939	1.454000	0.47793	0.655000	0.94253	ACG		PASS	0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	28	6	28	---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29617122	29617122	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:29617122T>C	ENST00000217740.3	+	2	700	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	70					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W70R(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GAACAACAAGTGGACCTGTCC	0.438																																						uc002kxf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)TGG>CGG		ring finger protein 125							325.0	297.0	307.0					18																	29617122		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29617122T>C	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.208T>C	18.37:g.29617122T>C	ENSP00000217740:p.Trp70Arg						p.W70R	NM_017831	NP_060301	Q96EQ8	RN125_HUMAN			2	590	+			70			RING-type.		Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.208T>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923536	0.52653	.	.	ENSG00000101695	ENST00000217740	T	0.15487	2.42	5.42	5.42	0.78866	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.48286	D	0.000192	T	0.11623	0.0283	N	0.00335	-1.625	0.32675	N	0.516241	D	0.76494	0.999	D	0.87578	0.998	T	0.50101	-0.8867	10	0.25106	T	0.35	1.8404	13.0041	0.58694	0.0:0.0:0.0:1.0	.	70	Q96EQ8	RN125_HUMAN	R	70	ENSP00000217740:W70R	ENSP00000217740:W70R	W	+	1	0	RNF125	27871120	0.999000	0.42202	0.999000	0.59377	0.923000	0.55619	4.405000	0.59741	2.054000	0.61138	0.528000	0.53228	TGG		PASS	0.438	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		86	98	86	98	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555280	44555280	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:44555280G>T	ENST00000330682.2	-	1	1169	c.934C>A	c.(934-936)Cct>Act	p.P312T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	312	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P312T(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGCGTCCAGGGAAAGCAGCT	0.652																																						uc010xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)CCT>ACT		transcription elongation factor B polypeptide							279.0	285.0	283.0					18																	44555280		1910	3732	5642	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555280G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.934C>A	18.37:g.44555280G>T	ENSP00000328232:p.Pro312Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P312T	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1170	-			312			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.934C>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.373697	0.00207	.	.	ENSG00000183791	ENST00000330682	T	0.08896	3.04	1.1	-2.21	0.06973	.	1.212080	0.06167	N	0.676943	T	0.02193	0.0068	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.02654	T	1	-0.0255	0.0922	0.00041	0.238:0.1951:0.2478:0.3191	.	312	Q8NG57	ELOA3_HUMAN	T	312	ENSP00000328232:P312T	ENSP00000328232:P312T	P	-	1	0	TCEB3C	42809278	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.053000	0.11846	-1.769000	0.01297	-2.830000	0.00107	CCT		PASS	0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		11	385	11	385	---	---	---	---
ZADH2	284273	broad.mit.edu	37	18	72914002	72914002	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr18:72914002C>A	ENST00000322342.3	-	2	792	c.503G>T	c.(502-504)gGa>gTa	p.G168V	ZADH2_ENST00000537114.2_Missense_Mutation_p.G45V	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	168						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G168V(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CGACAGTCCTCCGAGCTCTTT	0.532																																						uc002llx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)GGA>GTA		zinc binding alcohol dehydrogenase domain							288.0	303.0	298.0					18																	72914002		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914002C>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.503G>T	18.37:g.72914002C>A	ENSP00000323678:p.Gly168Val					ZADH2_uc010dqv.2_Missense_Mutation_p.G45V	p.G168V	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	771	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	168					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.503G>T	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	C	9.598	1.127875	0.20959	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.46451	0.87;0.87	5.73	3.94	0.45596	GroES-like (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.60712	-0.7209	10	0.66056	D	0.02	-2.3805	9.7466	0.40451	0.0:0.7855:0.1412:0.0733	.	168	Q8N4Q0	ZADH2_HUMAN	V	168;45	ENSP00000323678:G168V;ENSP00000440111:G45V	ENSP00000323678:G168V	G	-	2	0	ZADH2	71042990	0.972000	0.33761	0.231000	0.23993	0.905000	0.53344	2.471000	0.45127	2.718000	0.92993	0.650000	0.86243	GGA		PASS	0.532	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		10	370	10	370	---	---	---	---
SLC39A3	29985	broad.mit.edu	37	19	2733429	2733429	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:2733429T>C	ENST00000269740.4	-	3	594	c.265A>G	c.(265-267)Acc>Gcc	p.T89A	SLC39A3_ENST00000545664.1_Missense_Mutation_p.T89A|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.T89A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		AGGAGGATGGTTTCGGCCAGC	0.612																																						uc002lwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)ACC>GCC		solute carrier family 39 (zinc transporter),							65.0	60.0	62.0					19																	2733429		2203	4300	6503	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733429T>C	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.265A>G	19.37:g.2733429T>C	ENSP00000269740:p.Thr89Ala					SLC39A3_uc010xgy.1_Missense_Mutation_p.T89A	p.T89A	NM_144564	NP_653165	Q9BRY0	S39A3_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)	3	519	-		Hepatocellular(1079;0.137)	89			Helical; (Potential).		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.265A>G	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	T	9.836	1.189661	0.21954	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.45668	0.89;0.89	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.46741	1.465	0.80722	D	1	B;P	0.39094	0.42;0.659	B;B	0.38880	0.09;0.284	T	0.10382	-1.0632	10	0.18276	T	0.48	-0.5644	13.1303	0.59377	0.0:0.0:0.0:1.0	.	89;89	F5H385;Q9BRY0	.;S39A3_HUMAN	A	89	ENSP00000445345:T89A;ENSP00000269740:T89A	ENSP00000269740:T89A	T	-	1	0	SLC39A3	2684429	1.000000	0.71417	0.970000	0.41538	0.052000	0.14988	3.696000	0.54757	1.784000	0.52394	0.454000	0.30748	ACC		PASS	0.612	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			28	46	28	46	---	---	---	---
FUT3	2525	broad.mit.edu	37	19	5844194	5844194	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:5844194C>A	ENST00000303225.6	-	3	1291	c.657G>T	c.(655-657)gtG>gtT	p.V219V	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Silent_p.V219V|FUT3_ENST00000589918.1_Silent_p.V219V|FUT3_ENST00000589620.1_Silent_p.V219V	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	219					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.V219V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTACACGTCCACCTTGAGAT	0.627																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)GTG>GTT		fucosyltransferase 3							51.0	50.0	50.0					19																	5844194		2202	4298	6500	SO:0001819	synonymous_variant	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844194C>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.657G>T	19.37:g.5844194C>A						FUT3_uc002mdm.2_Silent_p.V219V|FUT3_uc002mdj.2_Silent_p.V219V|FUT3_uc002mdl.2_Silent_p.V219V	p.V219V	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	754	-			219			Lumenal (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	c.657G>T	CCDS12153.1																																																																																				PASS	0.627	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		5	68	5	68	---	---	---	---
RFX2	5990	broad.mit.edu	37	19	6040087	6040087	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:6040087G>C	ENST00000303657.5	-	5	575	c.426C>G	c.(424-426)agC>agG	p.S142R	RFX2_ENST00000592546.1_Missense_Mutation_p.S142R|RFX2_ENST00000359161.3_Missense_Mutation_p.S142R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S142R(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGACGATGGGGCTCCCCCCGA	0.697																																					Colon(38;171 817 19800 47433 48051)	uc002meb.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(424-426)AGC>AGG		regulatory factor X2 isoform a							32.0	26.0	28.0					19																	6040087		2173	4260	6433	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6040087G>C		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.426C>G	19.37:g.6040087G>C	ENSP00000306335:p.Ser142Arg					RFX2_uc002mec.2_Missense_Mutation_p.S142R|RFX2_uc010xiy.1_Missense_Mutation_p.S97R	p.S142R	NM_000635	NP_000626	P48378	RFX2_HUMAN			5	695	-			142					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.426C>G	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510057	0.44660	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	T;T	0.38401	1.14;1.14	5.21	1.66	0.24008	RFX1 transcription activation region (1);	0.169147	0.64402	D	0.000005	T	0.42787	0.1218	M	0.73598	2.24	0.54753	D	0.999989	B;P	0.36222	0.008;0.544	B;P	0.45794	0.031;0.493	T	0.28106	-1.0054	10	0.45353	T	0.12	-12.6328	6.9545	0.24563	0.4027:0.0:0.5972:0.0	.	142;142	P48378-2;P48378	.;RFX2_HUMAN	R	142	ENSP00000306335:S142R;ENSP00000352076:S142R	ENSP00000306335:S142R	S	-	3	2	RFX2	5991087	1.000000	0.71417	0.784000	0.31847	0.990000	0.78478	1.020000	0.30027	0.594000	0.29761	0.609000	0.83330	AGC		PASS	0.697	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		5	22	5	22	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091388	9091388	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:9091388C>G	ENST00000397910.4	-	1	630	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	143	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E143K(2)|p.E143Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGATGCTTCTTTGGTAAAA	0.488																																						uc002mkp.2																			4	Substitution - Missense(4)		lung(2)|skin(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(427-429)GAA>CAA		mucin 16							90.0	91.0	91.0					19																	9091388		1983	4165	6148	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091388C>G	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.427G>C	19.37:g.9091388C>G	ENSP00000381008:p.Glu143Gln						p.E143Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	631	-			143			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.427G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.784	-0.044997	0.07452	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.38	1.38	0.22167	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	.	.	.	P	0.50710	0.938	P	0.46543	0.52	T	0.44726	-0.9309	8	0.87932	D	0	.	6.1718	0.20421	0.0:1.0:0.0:0.0	.	143	B5ME49	.	Q	143	ENSP00000381008:E143Q	ENSP00000381008:E143Q	E	-	1	0	MUC16	8952388	0.002000	0.14202	0.001000	0.08648	0.146000	0.21551	1.611000	0.36879	1.068000	0.40764	0.313000	0.20887	GAA		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	74	9	74	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10131451	10131451	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:10131451C>T	ENST00000171214.1	+	4	758	c.509C>T	c.(508-510)gCt>gTt	p.A170V	RDH8_ENST00000591589.1_Missense_Mutation_p.A190V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	170					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.A170V(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAAAGCCTCGCTATCCAGCTG	0.577																																						uc002mmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(508-510)GCT>GTT		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						76.0	61.0	66.0					19																	10131451		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131451C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.509C>T	19.37:g.10131451C>T	ENSP00000171214:p.Ala170Val						p.A170V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	758	+			170			Helical; (Potential).		Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	C	27.1	4.800174	0.90538	.	.	ENSG00000080511	ENST00000171214	D	0.89270	-2.49	5.23	5.23	0.72850	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.89715	3.055	0.80722	D	1	P	0.45827	0.867	P	0.50754	0.649	D	0.94115	0.7374	10	0.51188	T	0.08	.	16.2982	0.82786	0.0:1.0:0.0:0.0	.	170	Q9NYR8	RDH8_HUMAN	V	170	ENSP00000171214:A170V	ENSP00000171214:A170V	A	+	2	0	RDH8	9992451	0.993000	0.37304	0.256000	0.24389	0.608000	0.37181	3.056000	0.49923	2.440000	0.82611	0.655000	0.94253	GCT		PASS	0.577	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				13	13	13	13	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22575630	22575630	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:22575630T>C	ENST00000357774.5	-	4	528	c.407A>G	c.(406-408)aAa>aGa	p.K136R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K136R(2)		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)				GTAACATTCTTTGTGCACCTT	0.294																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(406-408)AAA>AGA		zinc finger protein 98							63.0	59.0	61.0					19																	22575630		2047	4222	6269	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575630T>C		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.407A>G	19.37:g.22575630T>C	ENSP00000350418:p.Lys136Arg						p.K136R	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	529	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	136						Missense_Mutation	SNP	ENST00000357774.5	37	c.407A>G	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	5.018	0.189001	0.09547	.	.	ENSG00000197360	ENST00000357774	T	0.06849	3.25	1.1	1.1	0.20463	.	.	.	.	.	T	0.12135	0.0295	M	0.84219	2.685	0.09310	N	1	B	0.15141	0.012	B	0.24848	0.056	T	0.32481	-0.9905	9	0.48119	T	0.1	.	3.0241	0.06085	0.0:0.2932:0.0:0.7068	.	136	A6NK75	ZNF98_HUMAN	R	136	ENSP00000350418:K136R	ENSP00000350418:K136R	K	-	2	0	ZNF98	22367470	0.000000	0.05858	0.028000	0.17463	0.039000	0.13416	-0.716000	0.04991	0.452000	0.26830	0.254000	0.18369	AAA		PASS	0.294	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		8	32	8	32	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23545174	23545174	+	Missense_Mutation	SNP	C	C	T	rs369764933		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:23545174C>T	ENST00000300619.7	-	4	812	c.607G>A	c.(607-609)Gtt>Att	p.V203I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.V171I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	203					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V203I(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTAATATAAACGCATTTATGT	0.318													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.0					uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GTT>ATT		zinc finger protein 91		C	ILE/VAL	0,4196		0,0,2098	71.0	74.0	73.0		607	-2.0	0.0	19		73	1,8497		0,1,4248	no	missense	ZNF91	NM_003430.2	29	0,1,6346	TT,TC,CC		0.0118,0.0,0.0079	benign	203/1192	23545174	1,12693	2098	4249	6347	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545174C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.607G>A	19.37:g.23545174C>T	ENSP00000300619:p.Val203Ile					ZNF91_uc010xrj.1_Missense_Mutation_p.V171I	p.V203I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	720	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	203					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.607G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.669614	0.00105	0.0	1.18E-4	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.14391	2.51;2.51	0.982	-1.96	0.07525	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02610	0.0079	N	0.00746	-1.225	0.09310	N	1	B;B	0.21381	0.006;0.055	B;B	0.04013	0.001;0.001	T	0.38394	-0.9663	9	0.02654	T	1	.	5.1847	0.15178	0.0:0.4479:0.0:0.5521	.	171;203	Q05481-2;Q05481	.;ZNF91_HUMAN	I	203;171	ENSP00000300619:V203I;ENSP00000380272:V171I	ENSP00000300619:V203I	V	-	1	0	ZNF91	23337014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	-0.825000	0.04290	-1.252000	0.01501	GTT		PASS	0.318	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		6	50	6	50	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769798	31769798	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:31769798G>T	ENST00000240587.4	-	2	1228	c.901C>A	c.(901-903)Caa>Aaa	p.Q301K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	301					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q118K(1)|p.Q301K(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCACTTTTTGGTAGTGTTTT	0.537																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(901-903)CAA>AAA		zinc finger protein 537							85.0	82.0	83.0					19																	31769798		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769798G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.901C>A	19.37:g.31769798G>T	ENSP00000240587:p.Gln301Lys						p.Q301K	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	966	-	Esophageal squamous(110;0.226)		301					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.901C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060498	0.76074	.	.	ENSG00000121297	ENST00000240587	T	0.38077	1.16	5.67	5.67	0.87782	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.36672	1.1	0.80722	D	1	P	0.42961	0.795	D	0.67103	0.949	T	0.51764	-0.8664	10	0.62326	D	0.03	-15.073	19.7698	0.96359	0.0:0.0:1.0:0.0	.	301	Q63HK5	TSH3_HUMAN	K	301	ENSP00000240587:Q301K	ENSP00000240587:Q301K	Q	-	1	0	TSHZ3	36461638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.659000	0.90383	0.655000	0.94253	CAA		PASS	0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	79	6	79	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37642521	37642521	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:37642521C>A	ENST00000356958.4	-	5	2538	c.2280G>T	c.(2278-2280)gtG>gtT	p.V760V	ZNF585A_ENST00000292841.5_Silent_p.V705V|ZNF585A_ENST00000392157.2_Silent_p.V705V|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.V397V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	760					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V705V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGACGCTGAACACTGATTTCT	0.483																																						uc002ofo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2278-2280)GTG>GTT		zinc finger protein 585A							153.0	128.0	136.0					19																	37642521		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37642521C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2280G>T	19.37:g.37642521C>A						ZNF585A_uc002ofm.1_Silent_p.V705V|ZNF585A_uc002ofn.1_Silent_p.V705V	p.V760V	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2511	-			760			C2H2-type 22.		Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.2280G>T																																																																																					PASS	0.483	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		21	81	21	81	---	---	---	---
FBXO27	126433	broad.mit.edu	37	19	39521752	39521752	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:39521752C>G	ENST00000292853.4	-	4	608	c.489G>C	c.(487-489)aaG>aaC	p.K163N	CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000600828.1_Missense_Mutation_p.K162N|FBXO27_ENST00000509137.2_Missense_Mutation_p.K163N	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	163	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.K163N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGACCTGCTTCTTGCAACACC	0.532																																						uc002okh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)AAG>AAC		F-box protein 27							154.0	137.0	143.0					19																	39521752		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521752C>G	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.489G>C	19.37:g.39521752C>G	ENSP00000292853:p.Lys163Asn						p.K163N	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	571	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		163			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.489G>C	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113893	0.56398	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37058	1.22;1.22	3.99	1.83	0.25207	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.106349	0.38605	N	0.001638	T	0.59128	0.2171	M	0.88181	2.935	0.30031	N	0.813445	D	0.89917	1.0	D	0.91635	0.999	T	0.57814	-0.7746	10	0.72032	D	0.01	-11.7568	6.1538	0.20326	0.0:0.7643:0.0:0.2357	.	163	Q8NI29	FBX27_HUMAN	N	163	ENSP00000292853:K163N;ENSP00000437662:K163N	ENSP00000292853:K163N	K	-	3	2	FBXO27	44213592	0.780000	0.28664	0.980000	0.43619	0.658000	0.38924	-0.088000	0.11198	0.460000	0.27045	0.479000	0.44913	AAG		PASS	0.532	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			34	159	34	159	---	---	---	---
EXOSC5	56915	broad.mit.edu	37	19	41903110	41903110	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:41903110C>T	ENST00000221233.4	-	1	274	c.124G>A	c.(124-126)Gat>Aat	p.D42N	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.D42N|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.10_ENST00000598988.1_RNA	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	42					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)	p.D42N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCAGAGCCATCTGGCCGCGAC	0.587																																						uc002oqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)GAT>AAT		exosome component Rrp46							128.0	126.0	127.0					19																	41903110		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903110C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.124G>A	19.37:g.41903110C>T	ENSP00000221233:p.Asp42Asn					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|BCKDHA_uc002oqp.1_5'Flank|BCKDHA_uc002oqq.2_5'Flank|BCKDHA_uc002oqr.2_5'Flank|BCKDHA_uc010xvz.1_5'Flank	p.D42N	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			1	147	-			42					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.124G>A	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765349	0.96906	.	.	ENSG00000077348	ENST00000221233	T	0.62232	0.04	5.42	5.42	0.78866	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80781	-0.1229	10	0.62326	D	0.03	-26.4414	16.2416	0.82411	0.0:1.0:0.0:0.0	.	42	Q9NQT4	EXOS5_HUMAN	N	42	ENSP00000221233:D42N	ENSP00000221233:D42N	D	-	1	0	EXOSC5	46594950	0.999000	0.42202	0.994000	0.49952	0.997000	0.91878	5.274000	0.65569	2.824000	0.97209	0.492000	0.49549	GAT		PASS	0.587	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		37	161	37	161	---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42314027	42314027	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:42314027G>T	ENST00000357396.3	+	4	808	c.567G>T	c.(565-567)aaG>aaT	p.K189N	CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	189						integral component of membrane (GO:0016021)		p.K189N(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GTGACCTCAAGGAGCAGCAGC	0.592																																						uc002orn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(565-567)AAG>AAT		carcinoembryonic antigen-related cell adhesion							172.0	191.0	185.0					19																	42314027		2202	4299	6501	SO:0001583	missense	1084					integral to membrane		g.chr19:42314027G>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.567G>T	19.37:g.42314027G>T	ENSP00000349971:p.Lys189Asn					CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_RNA	p.K189N	NM_001815	NP_001806	P40198	CEAM3_HUMAN			4	643	+			189			Cytoplasmic (Potential).		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.567G>T	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162909	0.21538	.	.	ENSG00000170956	ENST00000357396	T	0.01215	5.16	1.56	-2.04	0.07343	.	.	.	.	.	T	0.00695	0.0023	L	0.34521	1.04	0.09310	N	1	P	0.36647	0.563	B	0.26094	0.066	T	0.43814	-0.9368	9	0.02654	T	1	.	5.2287	0.15410	0.4042:0.0:0.5958:0.0	.	189	P40198	CEAM3_HUMAN	N	189	ENSP00000349971:K189N	ENSP00000349971:K189N	K	+	3	2	CEACAM3	47005867	0.000000	0.05858	0.001000	0.08648	0.361000	0.29550	0.062000	0.14389	-0.537000	0.06290	0.407000	0.27541	AAG		PASS	0.592	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		10	394	10	394	---	---	---	---
GSK3A	2931	broad.mit.edu	37	19	42740845	42740845	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:42740845C>A	ENST00000222330.3	-	4	706	c.579G>T	c.(577-579)ctG>ctT	p.L193L	AC006486.9_ENST00000594664.1_Silent_p.L106L|GSK3A_ENST00000398249.4_Silent_p.L111L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L193L(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				ATTCCAGCACCAGATTTAGGT	0.557																																						uc002otb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(577-579)CTG>CTT		glycogen synthase kinase 3 alpha							110.0	105.0	107.0					19																	42740845		2203	4300	6503	SO:0001819	synonymous_variant	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42740845C>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.579G>T	19.37:g.42740845C>A						GSK3A_uc002ota.1_Silent_p.L111L|GSK3A_uc002otc.2_RNA	p.L193L	NM_019884	NP_063937	P49840	GSK3A_HUMAN			4	698	-		Prostate(69;0.00682)	193			Protein kinase.		O14959	Silent	SNP	ENST00000222330.3	37	c.579G>T	CCDS12599.1																																																																																				PASS	0.557	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			6	142	6	142	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43262247	43262247	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:43262247C>A	ENST00000306511.4	-	3	713	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	PSG8_ENST00000404209.4_Missense_Mutation_p.G206C|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.G84C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	206	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.G206C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTTGTGACACCCAATAGAAAG	0.522																																						uc002ouo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GGT>TGT		pregnancy specific beta-1-glycoprotein 8 isoform							255.0	263.0	260.0					19																	43262247		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262247C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.616G>T	19.37:g.43262247C>A	ENSP00000305005:p.Gly206Cys					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.G45C|PSG8_uc002ouh.2_Missense_Mutation_p.G206C|PSG8_uc010ein.2_Missense_Mutation_p.G84C|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.G45C|PSG8_uc002oul.3_Missense_Mutation_p.G206C|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.G206C	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	714	-		Prostate(69;0.00899)	206			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.616G>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	8.551	0.875587	0.17395	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.10382	2.88;2.88;2.88	1.53	-3.06	0.05379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21761	0.0524	L	0.61036	1.89	0.09310	N	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.83275	0.879;0.996;0.987;0.992	T	0.10730	-1.0617	9	0.72032	D	0.01	.	3.2002	0.06647	0.0:0.3499:0.2278:0.4222	.	84;206;206;206	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	C	206;81;84;18;206	ENSP00000385869:G206C;ENSP00000385081:G84C;ENSP00000305005:G206C	ENSP00000292109:G81C	G	-	1	0	PSG8	47954087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.148000	0.01292	-1.754000	0.01321	-0.708000	0.03648	GGT		PASS	0.522	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			11	541	11	541	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44793188	44793188	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:44793188G>T	ENST00000291182.4	-	5	502	c.400C>A	c.(400-402)Ccc>Acc	p.P134T	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P134T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGGTGCTTGGGGAACTGAGAG	0.458																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(400-402)CCC>ACC		zinc finger protein 93 homolog							97.0	99.0	99.0					19																	44793188		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793188G>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.400C>A	19.37:g.44793188G>T	ENSP00000291182:p.Pro134Thr					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.P130T|ZNF235_uc010xwx.1_Missense_Mutation_p.P48T	p.P134T	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	503	-		Prostate(69;0.0352)|all_neural(266;0.116)	134					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.400C>A	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127670	0.20959	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.04758	3.56	3.77	1.62	0.23740	.	0.838243	0.10012	N	0.727022	T	0.04003	0.0112	L	0.29908	0.895	0.09310	N	1	P;P	0.47106	0.867;0.89	B;B	0.42282	0.382;0.343	T	0.39800	-0.9596	10	0.13470	T	0.59	.	7.1549	0.25632	0.2195:0.0:0.7805:0.0	.	130;134	Q14590-2;Q14590	.;ZN235_HUMAN	T	130;134;134;56	ENSP00000291182:P134T	ENSP00000291182:P134T	P	-	1	0	ZNF235	49485028	0.000000	0.05858	0.003000	0.11579	0.774000	0.43823	-0.254000	0.08781	0.368000	0.24481	0.462000	0.41574	CCC		PASS	0.458	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			8	191	8	191	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:44932748G>A	ENST00000588931.1	-	6	2641	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ZNF229_ENST00000291187.4_Silent_p.G730G|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G736G(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488																																						uc002oze.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)	4						c.(2206-2208)GGC>GGT		zinc finger protein 229							57.0	64.0	61.0					19																	44932748		2188	4296	6484	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932748G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2208C>T	19.37:g.44932748G>A						ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	p.G736G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2642	-		Prostate(69;0.0352)	736					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.2208C>T	CCDS42574.1																																																																																				PASS	0.488	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		20	48	20	48	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44932971	44932971	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:44932971C>T	ENST00000588931.1	-	6	2418	c.1985G>A	c.(1984-1986)gGa>gAa	p.G662E	ZNF229_ENST00000291187.4_Missense_Mutation_p.G656E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	662			G -> R (in dbSNP:rs1434579). {ECO:0000269|Ref.4}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G662E(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAAGCCCTTTCCGCACTCTTG	0.493																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1984-1986)GGA>GAA		zinc finger protein 229							127.0	128.0	128.0					19																	44932971		2156	4277	6433	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932971C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1985G>A	19.37:g.44932971C>T	ENSP00000466519:p.Gly662Glu					ZNF229_uc010ejk.1_Missense_Mutation_p.G316E|ZNF229_uc010ejl.1_Missense_Mutation_p.G656E	p.G662E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2419	-		Prostate(69;0.0352)	662			C2H2-type 13.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1985G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783480	0.70222	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46444	0.1393	L	0.43701	1.375	0.35932	D	0.832576	P	0.42993	0.797	B	0.43301	0.415	T	0.56523	-0.7965	8	0.62326	D	0.03	.	10.0613	0.42277	0.0:0.8949:0.0:0.1051	.	662	Q9UJW7	ZN229_HUMAN	E	662	.	ENSP00000291187:G662E	G	-	2	0	ZNF229	49624811	0.193000	0.23313	0.022000	0.16811	0.184000	0.23303	2.216000	0.42871	0.589000	0.29677	-0.208000	0.12717	GGA		PASS	0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		31	161	31	161	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46664046	46664046	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:46664046C>A	ENST00000377693.4	+	3	285	c.249C>A	c.(247-249)tcC>tcA	p.S83S	IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000434646.2_Silent_p.S94S|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	83						extracellular region (GO:0005576)		p.S94S(1)		cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GTCTTGATTCCTTTGGCCTCA	0.527																																						uc010xxv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(247-249)TCC>TCA		IGF-like family member 2 isoform b							173.0	180.0	177.0					19																	46664046		2198	4298	6496	SO:0001819	synonymous_variant	147920					extracellular region	protein binding	g.chr19:46664046C>A	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.249C>A	19.37:g.46664046C>A						IGFL2_uc002peb.2_Silent_p.S94S	p.S83S	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	3	285	+		Ovarian(192;0.0908)|all_neural(266;0.113)	83					E9PAV1|Q6B9Z3	Silent	SNP	ENST00000377693.4	37	c.249C>A	CCDS46121.1																																																																																				PASS	0.527	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		8	373	8	373	---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49310325	49310325	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:49310325C>A	ENST00000316273.6	-	2	43	c.31G>T	c.(31-33)Gca>Tca	p.A11S	BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000598162.1_Missense_Mutation_p.A11S|BCAT2_ENST00000601496.1_5'UTR|BCAT2_ENST00000599246.1_Intron	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	11					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|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)	p.A11S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	AGCTTTCGTGCCCAGATCTGG	0.587																																						uc002pkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(31-33)GCA>TCA		branched chain aminotransferase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						62.0	59.0	60.0					19																	49310325		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49310325C>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.31G>T	19.37:g.49310325C>A	ENSP00000322991:p.Ala11Ser					BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.A11S|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	p.A11S	NM_001190	NP_001181	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	2	68	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	11					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.31G>T	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267959	0.40095	.	.	ENSG00000105552	ENST00000316273	T	0.18502	2.21	4.81	3.76	0.43208	.	0.716404	0.13764	N	0.364357	T	0.11922	0.0290	L	0.34521	1.04	0.80722	D	1	B;B	0.28713	0.22;0.22	B;B	0.22386	0.039;0.039	T	0.07770	-1.0755	10	0.13853	T	0.58	-15.3768	10.8298	0.46654	0.0:0.9006:0.0:0.0994	.	11;11	Q53EW7;O15382	.;BCAT2_HUMAN	S	11	ENSP00000322991:A11S	ENSP00000322991:A11S	A	-	1	0	BCAT2	54002137	0.998000	0.40836	0.997000	0.53966	0.627000	0.37826	0.373000	0.20484	1.308000	0.44962	0.573000	0.79308	GCA		PASS	0.587	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			12	15	12	15	---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49398264	49398264	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:49398264G>T	ENST00000221399.3	-	6	649	c.505C>A	c.(505-507)Caa>Aaa	p.Q169K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	169					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.Q169K(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCAGGTCGTTGGTGGGCTTGC	0.517																																						uc002pkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(505-507)CAA>AAA		tubby like protein 2							65.0	57.0	59.0					19																	49398264		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49398264G>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.505C>A	19.37:g.49398264G>T	ENSP00000221399:p.Gln169Lys						p.Q169K	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	6	656	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	169					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.505C>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	1.096	-0.662567	0.03454	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977	D;T;T;T	0.82803	-1.65;2.19;1.48;0.9	4.8	1.36	0.22044	.	1.090100	0.07061	N	0.833696	T	0.70491	0.3230	L	0.42245	1.32	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.52756	-0.8533	10	0.02654	T	1	-0.0015	3.4817	0.07605	0.0944:0.1694:0.5608:0.1754	.	169	O00295	TULP2_HUMAN	K	169;123;166;150	ENSP00000221399:Q169K;ENSP00000428420:Q123K;ENSP00000430040:Q166K;ENSP00000428535:Q150K	ENSP00000221399:Q169K	Q	-	1	0	TULP2	54090076	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.394000	0.20834	0.162000	0.19483	0.549000	0.68633	CAA		PASS	0.517	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		4	23	4	23	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49416395	49416395	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:49416395A>T	ENST00000405315.4	+	6	942	c.608A>T	c.(607-609)gAg>gTg	p.E203V	NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Missense_Mutation_p.E203V|NUCB1_ENST00000263273.5_Missense_Mutation_p.E203V|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	203						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.E203V(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AAGGAGGCGGAGAGGAAGCTG	0.572																																						uc002plb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GAG>GTG		nucleobindin 1 precursor							123.0	109.0	114.0					19																	49416395		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49416395A>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.608A>T	19.37:g.49416395A>T	ENSP00000385923:p.Glu203Val					NUCB1_uc002pla.2_Missense_Mutation_p.E203V|NUCB1_uc002plc.2_Missense_Mutation_p.E203V	p.E203V	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	6	680	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	203			Potential.|Potential.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.608A>T	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.8|27.8	4.859686|4.859686	0.91433|0.91433	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	T;T;T|.	0.23147|.	1.92;1.92;1.92|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.116877|.	0.64402|.	D|.	0.000008|.	T|.	0.78240|.	0.4252|.	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.53809|.	0.735;0.735|.	T|.	0.81482|.	-0.0913|.	10|.	0.87932|.	D|.	0|.	.|.	12.8118|12.8118	0.57643|0.57643	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	203;203|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	V|X	203|173	ENSP00000385923:E203V;ENSP00000385211:E203V;ENSP00000263273:E203V|.	ENSP00000263273:E203V|.	E|R	+|+	2|1	0|2	NUCB1|NUCB1	54108207|54108207	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.954000|0.954000	0.61252|0.61252	6.936000|6.936000	0.75892|0.75892	1.986000|1.986000	0.57962|0.57962	0.444000|0.444000	0.29173|0.29173	GAG|AGA		PASS	0.572	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		24	14	24	14	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54416243	54416243	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:54416243C>T	ENST00000391767.1	+	2	370	c.158C>T	c.(157-159)gCc>gTc	p.A53V	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.A53V|CACNG7_ENST00000391766.1_Missense_Mutation_p.A53V			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	53					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A53V(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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;0.0711)		GTCAAGATGGCCCTGCACGCC	0.592																																						uc002qcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)GCC>GTC		voltage-dependent calcium channel gamma-7							68.0	57.0	61.0					19																	54416243		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416243C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.158C>T	19.37:g.54416243C>T	ENSP00000375647:p.Ala53Val					CACNG7_uc010era.1_Missense_Mutation_p.A53V	p.A53V	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	1	173	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		53					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.158C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491270	0.64074	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89196	-2.48;-2.48;-2.48	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	N	0.14661	0.345	0.80722	D	1	B	0.24132	0.098	B	0.27076	0.076	T	0.74337	-0.3698	10	0.17369	T	0.5	-23.3286	14.4911	0.67651	0.0:1.0:0.0:0.0	.	53	P62955	CCG7_HUMAN	V	53	ENSP00000375647:A53V;ENSP00000222212:A53V;ENSP00000375646:A53V	ENSP00000222212:A53V	A	+	2	0	CACNG7	59108055	1.000000	0.71417	0.962000	0.40283	0.955000	0.61496	7.160000	0.77495	2.376000	0.81061	0.511000	0.50034	GCC		PASS	0.592	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			5	35	5	35	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54973455	54973455	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:54973455G>C	ENST00000333834.4	-	1	1439	c.1321C>G	c.(1321-1323)Cca>Gca	p.P441A		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	441							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.P419A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCTGCCCTGGAGACTGTAGT	0.642																																						uc010yez.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)CCA>GCA		leukocyte receptor cluster (LRC) member 9							74.0	75.0	74.0					19																	54973455		2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973455G>C	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1321C>G	19.37:g.54973455G>C	ENSP00000331647:p.Pro441Ala						p.P441A	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1440	-	Ovarian(34;0.19)		441					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.1321C>G	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027865	0.35797	.	.	ENSG00000182909	ENST00000333834	T	0.43294	0.95	4.84	-0.296	0.12824	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.430418	0.21995	U	0.066088	T	0.26846	0.0657	L	0.50333	1.59	0.09310	N	1	P	0.38827	0.649	B	0.36335	0.222	T	0.08806	-1.0704	10	0.30078	T	0.28	-0.89	2.1717	0.03851	0.1874:0.1536:0.5019:0.1571	.	441	Q96B70	LENG9_HUMAN	A	441	ENSP00000331647:P441A	ENSP00000331647:P441A	P	-	1	0	LENG9	59665267	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.205000	0.17356	0.123000	0.18342	0.561000	0.74099	CCA		PASS	0.642	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		15	45	15	45	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423991	56423991	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:56423991G>T	ENST00000342929.3	-	5	1191	c.1192C>A	c.(1192-1194)Cac>Aac	p.H398N	NLRP13_ENST00000588751.1_Missense_Mutation_p.H398N	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.H398N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCATCAAAGTGTCTCATGAAA	0.448																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1192-1194)CAC>AAC		NACHT, leucine rich repeat and PYD containing							92.0	95.0	94.0					19																	56423991		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423991G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1192C>A	19.37:g.56423991G>T	ENSP00000343891:p.His398Asn						p.H398N	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1217	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	398			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1192C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367668	0.24771	.	.	ENSG00000173572	ENST00000342929	T	0.78126	-1.15	2.7	0.4	0.16331	.	.	.	.	.	T	0.66277	0.2773	L	0.31476	0.935	0.09310	N	1	P	0.43885	0.82	P	0.46208	0.507	T	0.56444	-0.7978	9	0.49607	T	0.09	.	2.3187	0.04205	0.5969:0.0:0.162:0.2411	.	398	Q86W25	NAL13_HUMAN	N	398	ENSP00000343891:H398N	ENSP00000343891:H398N	H	-	1	0	NLRP13	61115803	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.224000	0.32539	-0.096000	0.12329	-1.328000	0.01277	CAC		PASS	0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		43	48	43	48	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57066051	57066051	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:57066051G>A	ENST00000301318.3	+	8	1968	c.1897G>A	c.(1897-1899)Gcc>Acc	p.A633T	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A633T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTCTCAGCTTGCCACTCATCA	0.453																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1897-1899)GCC>ACC		zinc finger protein 28							87.0	94.0	91.0					19																	57066051		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066051G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1897G>A	19.37:g.57066051G>A	ENSP00000301318:p.Ala633Thr					uc002qnk.1_Intron	p.A633T	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1968	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	633			C2H2-type 8.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1897G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	4.552	0.102508	0.08731	.	.	ENSG00000196867	ENST00000301318	T	0.08008	3.14	3.91	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000709	T	0.07638	0.0192	N	0.04320	-0.23	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.37197	-0.9716	10	0.08179	T	0.78	.	8.2839	0.31917	0.0:0.1661:0.664:0.1699	.	633	Q8NHY6	ZFP28_HUMAN	T	633	ENSP00000301318:A633T	ENSP00000301318:A633T	A	+	1	0	ZFP28	61757863	0.000000	0.05858	0.996000	0.52242	0.994000	0.84299	-0.086000	0.11233	2.182000	0.69389	0.555000	0.69702	GCC		PASS	0.453	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		39	98	39	98	---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57839995	57839995	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:57839995C>A	ENST00000321545.4	+	4	1510	c.1165C>A	c.(1165-1167)Cac>Aac	p.H389N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H389N(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTACATTATCCACACTGGGGA	0.502																																						uc002qoi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1165-1167)CAC>AAC		zinc finger protein 543							81.0	68.0	73.0					19																	57839995		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839995C>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1165C>A	19.37:g.57839995C>A	ENSP00000322545:p.His389Asn						p.H389N	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1510	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	389			C2H2-type 7.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1165C>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449319	0.43531	.	.	ENSG00000178229	ENST00000321545	T	0.67345	-0.26	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84999	0.5597	M	0.93638	3.44	0.35169	D	0.771377	D	0.76494	0.999	D	0.91635	0.999	D	0.91453	0.5183	9	0.87932	D	0	.	13.1928	0.59722	0.0:1.0:0.0:0.0	.	389	Q08ER8	ZN543_HUMAN	N	389	ENSP00000322545:H389N	ENSP00000322545:H389N	H	+	1	0	ZNF543	62531807	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	6.918000	0.75788	1.654000	0.50703	0.561000	0.74099	CAC		PASS	0.502	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		5	68	5	68	---	---	---	---
RBCK1	10616	broad.mit.edu	37	20	409639	409639	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:409639G>A	ENST00000356286.5	+	11	2058	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	RBCK1_ENST00000382181.2_Silent_p.Q281Q|RBCK1_ENST00000353660.3_Silent_p.Q409Q	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	451					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q409Q(1)|p.Q451Q(1)		kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGTGCCAGATCGTGGTAC	0.701																																						uc002wdp.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1351-1353)CAG>CAA		RanBP-type and C3HC4-type zinc finger containing							32.0	32.0	32.0					20																	409639		2203	4299	6502	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409639G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1353G>A	20.37:g.409639G>A						RBCK1_uc002wdq.3_Silent_p.Q409Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.Q281Q	p.Q451Q	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			11	2046	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	451			IBR-type 2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.1353G>A	CCDS13000.2																																																																																				PASS	0.701	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		7	24	7	24	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3268434	3268434	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:3268434C>A	ENST00000252032.9	-	27	2397	c.2330G>T	c.(2329-2331)tGg>tTg	p.W777L	C20orf194_ENST00000453730.2_Missense_Mutation_p.M485I	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	777								p.W777L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATACACCATCCATCTGGAAAG	0.507																																						uc002wii.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2329-2331)TGG>TTG		hypothetical protein LOC25943							97.0	94.0	95.0					20																	3268434		1958	4160	6118	SO:0001583	missense	25943							g.chr20:3268434C>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2330G>T	20.37:g.3268434C>A	ENSP00000252032:p.Trp777Leu					C20orf194_uc002wij.3_Missense_Mutation_p.W516L|C20orf194_uc002wik.2_Missense_Mutation_p.W451L	p.W777L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			27	2381	-			777					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2330G>T	CCDS42851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.148617|4.148617	0.78001|0.78001	.|.	.|.	ENSG00000088854|ENSG00000088854	ENST00000453730|ENST00000252032	T|T	0.26518|0.32515	1.73|1.45	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.071159	.|0.64402	.|D	.|0.000013	T|T	0.50973|0.50973	0.1647|0.1647	L|L	0.55834|0.55834	1.745|1.745	0.23559|0.23559	N|N	0.997415|0.997415	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.78314	.|0.991;0.991	T|T	0.41360|0.41360	-0.9513|-0.9513	7|10	0.59425|0.51188	D|T	0.04|0.08	.|.	16.7639|16.7639	0.85519|0.85519	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|516;777	.|Q0IIP3;Q5TEA3	.|.;CT194_HUMAN	I|L	485|777	ENSP00000407229:M485I|ENSP00000252032:W777L	ENSP00000407229:M485I|ENSP00000252032:W777L	M|W	-|-	3|2	0|0	C20orf194|C20orf194	3216434|3216434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.889000|5.889000	0.69766|0.69766	2.485000|2.485000	0.83878|0.83878	0.650000|0.650000	0.86243|0.86243	ATG|TGG		PASS	0.507	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		5	91	5	91	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	13982995	13982995	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:13982995C>T	ENST00000310348.4	+	2	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	MACROD2_ENST00000217246.4_Silent_p.P36P			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	36					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.P36P(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACTATATTCCCCTGAACAGCA	0.368																																						uc002wou.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)CCC>CCT		MACRO domain containing 2 isoform 1							126.0	125.0	125.0					20																	13982995		2203	4300	6503	SO:0001819	synonymous_variant	140733							g.chr20:13982995C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.108C>T	20.37:g.13982995C>T						MACROD2_uc002wot.2_Silent_p.P36P|MACROD2_uc002wos.2_RNA	p.P36P	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			2	372	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	36					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.108C>T	CCDS13120.2																																																																																				PASS	0.368	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		35	43	35	43	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25462703	25462703	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:25462703C>G	ENST00000278886.6	-	14	1784	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	NINL_ENST00000422516.1_Missense_Mutation_p.E571Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	571					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.E571Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTTCCAGCTCAGCTTGCAGC	0.687																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1711-1713)GAG>CAG		ninein-like							42.0	44.0	43.0					20																	25462703		2202	4300	6502	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25462703C>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1711G>C	20.37:g.25462703C>G	ENSP00000278886:p.Glu571Gln					NINL_uc010gdn.1_Missense_Mutation_p.E571Q|NINL_uc010gdo.1_Missense_Mutation_p.E354Q	p.E571Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			14	1785	-			571			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1711G>C	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733717	0.30684	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.52983	0.85;0.64	4.73	1.74	0.24563	.	0.307133	0.29314	N	0.012503	T	0.36608	0.0973	L	0.51914	1.62	0.09310	N	1	B;B	0.24823	0.112;0.027	B;B	0.24394	0.053;0.009	T	0.23440	-1.0188	10	0.41790	T	0.15	-6.1487	6.1298	0.20199	0.0:0.5503:0.2933:0.1564	.	571;571	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	571	ENSP00000278886:E571Q;ENSP00000410431:E571Q	ENSP00000278886:E571Q	E	-	1	0	NINL	25410703	0.773000	0.28580	0.086000	0.20670	0.378000	0.30076	1.592000	0.36676	0.234000	0.21139	-0.314000	0.08810	GAG		PASS	0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		9	31	9	31	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33593519	33593519	+	Missense_Mutation	SNP	C	C	G	rs369793283		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:33593519C>G	ENST00000252015.2	-	16	2004	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.E600Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.E241Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.E631Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	639					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.E639Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCTGGTTTTCAAATCGGTCC	0.517																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1915-1917)GAA>CAA		TRPC4-associated protein isoform a		C	GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	115.0	94.0	101.0		1915,1891	3.9	1.0	20		101	0,8600		0,0,4300	no	missense,missense	TRPC4AP	NM_015638.2,NM_199368.1	29,29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	639/798,631/790	33593519	1,13005	2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33593519C>G	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1915G>C	20.37:g.33593519C>G	ENSP00000252015:p.Glu639Gln					TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.E230Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.E631Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.E600Q	p.E639Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		16	1949	-			639					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1915G>C	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830903	0.71258	2.27E-4	0.0	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.91	3.88	0.44766	.	0.047477	0.85682	D	0.000000	T	0.64125	0.2570	L	0.41236	1.265	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.958;0.958	T	0.62044	-0.6937	9	0.36615	T	0.2	.	11.2662	0.49112	0.0:0.8043:0.1277:0.068	.	600;631;639	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	Q	639;631;241;600;624	.	ENSP00000252015:E639Q	E	-	1	0	TRPC4AP	33057180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.729000	0.68538	1.506000	0.48736	0.655000	0.94253	GAA		PASS	0.517	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		60	84	60	84	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33593586	33593586	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr20:33593586C>G	ENST00000252015.2	-	16	1937	c.1848G>C	c.(1846-1848)caG>caC	p.Q616H	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.Q577H|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.Q218H|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.Q608H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	616					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.Q616H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCTGTTGATCTGCTTCAGGA	0.537																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1846-1848)CAG>CAC		TRPC4-associated protein isoform a							92.0	83.0	86.0					20																	33593586		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33593586C>G	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1848G>C	20.37:g.33593586C>G	ENSP00000252015:p.Gln616His					TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.Q207H|TRPC4AP_uc002xbl.2_Missense_Mutation_p.Q608H|TRPC4AP_uc010zur.1_Missense_Mutation_p.Q577H	p.Q616H	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		16	1882	-			616					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1848G>C	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879673	0.72294	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.6	1.52	0.23074	.	0.056322	0.64402	D	0.000001	T	0.46308	0.1386	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71414	0.973;0.973;0.973	T	0.38607	-0.9653	10	0.66056	D	0.02	.	10.4034	0.44243	0.0:0.7349:0.0:0.2651	.	577;608;616	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	H	616;608;218;577;601	ENSP00000252015:Q616H;ENSP00000400614:Q608H;ENSP00000446090:Q218H;ENSP00000400497:Q577H	ENSP00000252015:Q616H	Q	-	3	2	TRPC4AP	33057247	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.106000	0.31098	0.329000	0.23460	0.655000	0.94253	CAG		PASS	0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		42	73	42	73	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10942775	10942775	+	Splice_Site	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr21:10942775C>A	ENST00000361285.4	-	13	996		c.e13-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCTGAAACCTGACAGTTTA	0.348																																						uc002yip.1																			2	Unknown(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e13-1		transmembrane phosphatase with tensin homology							432.0	376.0	395.0					21																	10942775		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942775C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.667-1G>T	21.37:g.10942775C>A						TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.V205_splice|TPTE_uc002yir.1_Splice_Site_p.V185_splice|TPTE_uc010gkv.1_Splice_Site_p.V85_splice	p.V223_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1035	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.667_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.94	1.492897	0.26774	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6651	0.51368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9964646	1.000000	0.71417	0.997000	0.53966	0.289000	0.27227	6.163000	0.71880	1.470000	0.48102	0.194000	0.17425	.		PASS	0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	8	380	8	380	---	---	---	---
DONSON	29980	broad.mit.edu	37	21	34956954	34956954	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr21:34956954C>T	ENST00000303071.5	-	4	793	c.727G>A	c.(727-729)Gga>Aga	p.G243R	DONSON_ENST00000453626.1_Missense_Mutation_p.G243R|DONSON_ENST00000303113.6_Missense_Mutation_p.G229R|DONSON_ENST00000432378.1_Missense_Mutation_p.G243R	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	243					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.G243R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CTTGTCTTTCCAGCCATTTTT	0.428																																						uc002ysk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(727-729)GGA>AGA		downstream neighbor of SON							113.0	104.0	107.0					21																	34956954		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34956954C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.727G>A	21.37:g.34956954C>T	ENSP00000307143:p.Gly243Arg					DONSON_uc002ysn.1_Missense_Mutation_p.G126R|DONSON_uc002ysi.1_Missense_Mutation_p.G3R|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.G216R|DONSON_uc002ysm.2_Missense_Mutation_p.G243R	p.G243R	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			4	794	-			243					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.727G>A	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145743|5.145743	0.94603|0.94603	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000440810	.|.	.|.	.|.	5.99|5.99	5.11|5.11	0.69529|0.69529	.|.	0.155191|.	0.56097|.	D|.	0.000023|.	T|.	0.76263|.	0.3963|.	M|M	0.80183|0.80183	2.485|2.485	0.49389|0.49389	D|D	0.999783|0.999783	D;D;D|.	0.69078|.	0.997;0.987;0.997|.	D;P;D|.	0.67382|.	0.951;0.865;0.951|.	T|.	0.77960|.	-0.2391|.	9|.	0.54805|.	T|.	0.06|.	-6.1841|-6.1841	15.0888|15.0888	0.72177|0.72177	0.0:0.9316:0.0:0.0684|0.0:0.9316:0.0:0.0684	.|.	229;243;243|.	F8W8A5;C9J4K5;Q9NYP3|.	.;.;DONS_HUMAN|.	R|X	229;243;243;243|101	.|.	ENSP00000307143:G243R|.	G|W	-|-	1|2	0|0	DONSON|DONSON	33878824|33878824	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	5.515000|5.515000	0.67049|0.67049	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.428	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		4	37	4	37	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38459592	38459592	+	Missense_Mutation	SNP	C	C	A	rs565611168	byFrequency	TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr21:38459592C>A	ENST00000399017.2	+	2	2782	c.35C>A	c.(34-36)gCg>gAg	p.A12E	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.A12E|TTC3_ENST00000355666.1_Missense_Mutation_p.A12E|TTC3_ENST00000399010.1_Missense_Mutation_p.A12E	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	12					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A12E(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCACTGTGGCGGATTATGCC	0.403																																					Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(34-36)GCG>GAG		tetratricopeptide repeat domain 3							332.0	283.0	299.0					21																	38459592		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38459592C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.35C>A	21.37:g.38459592C>A	ENSP00000381981:p.Ala12Glu					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.A12E|TTC3_uc002ywb.2_Missense_Mutation_p.A12E|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.A12E	p.A12E	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			2	140	+		Myeloproliferative disorder(46;0.0412)	12					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.35C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713830	0.15306	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.50277	2.57;0.75;2.56;2.91;2.91;2.91	4.11	-1.32	0.09201	.	1.014940	0.07927	N	0.976925	T	0.33818	0.0876	L	0.54323	1.7	0.09310	N	0.999999	P	0.36125	0.538	B	0.30495	0.116	T	0.36138	-0.9760	10	0.87932	D	0	-0.0697	0.5527	0.00665	0.1688:0.3056:0.1952:0.3304	.	12	P53804	TTC3_HUMAN	E	12	ENSP00000403943:A12E;ENSP00000408456:A12E;ENSP00000391891:A12E;ENSP00000347889:A12E;ENSP00000381981:A12E;ENSP00000346791:A12E	ENSP00000346791:A12E	A	+	2	0	TTC3	37381462	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.565000	0.05929	-0.168000	0.10853	0.655000	0.94253	GCG		PASS	0.403	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			6	114	6	114	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40572204	40572204	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr21:40572204C>A	ENST00000333229.2	-	39	5021	c.4694G>T	c.(4693-4695)gGg>gTg	p.G1565V	BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565V|BRWD1_ENST00000342449.3_Missense_Mutation_p.G1565V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G1565V(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGATAGCCCACTGCGTGA	0.438																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(4693-4695)GGG>GTG		bromodomain and WD repeat domain containing 1							139.0	138.0	139.0					21																	40572204		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40572204C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4694G>T	21.37:g.40572204C>A	ENSP00000330753:p.Gly1565Val					BRWD1_uc010goc.1_Missense_Mutation_p.G208V|BRWD1_uc002yxl.2_Missense_Mutation_p.G1565V	p.G1565V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			39	4833	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1565					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4694G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266703	0.80358	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56444	0.46;0.5;0.57	4.95	4.95	0.65309	.	0.283481	0.30401	N	0.009701	T	0.67961	0.2949	M	0.68952	2.095	0.80722	D	1	D;D	0.63046	0.992;0.976	P;P	0.61722	0.893;0.718	T	0.72286	-0.4338	10	0.87932	D	0	-3.694	15.3563	0.74428	0.0:1.0:0.0:0.0	.	1565;1565	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	V	1565	ENSP00000330753:G1565V;ENSP00000344333:G1565V;ENSP00000370178:G1565V	ENSP00000330753:G1565V	G	-	2	0	BRWD1	39494074	0.898000	0.30612	0.731000	0.30826	0.910000	0.53928	4.230000	0.58632	2.300000	0.77407	0.563000	0.77884	GGG		PASS	0.438	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		6	107	6	107	---	---	---	---
SNAP29	9342	broad.mit.edu	37	22	21224807	21224807	+	Silent	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:21224807C>A	ENST00000215730.7	+	2	548	c.420C>A	c.(418-420)tcC>tcA	p.S140S		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	140					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)	p.S140S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCCTCACCTCCCAGCCCAACA	0.488																																						uc011ahw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)TCC>TCA		synaptosomal-associated protein 29							72.0	56.0	61.0					22																	21224807		2203	4300	6503	SO:0001819	synonymous_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224807C>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.420C>A	22.37:g.21224807C>A							p.S140S	NM_004782	NP_004773	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	527	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	140						Silent	SNP	ENST00000215730.7	37	c.420C>A	CCDS13784.1																																																																																				PASS	0.488	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		4	18	4	18	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29727776	29727776	+	Splice_Site	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:29727776C>T	ENST00000405198.1	-	17	2470	c.2439G>A	c.(2437-2439)caG>caA	p.Q813Q	AP1B1_ENST00000432560.2_Splice_Site_p.Q806Q|AP1B1_ENST00000317368.7_Splice_Site_p.Q786Q|AP1B1_ENST00000402502.1_Splice_Site_p.Q806Q|AP1B1_ENST00000356015.2_Splice_Site_p.Q806Q|AP1B1_ENST00000415447.1_Splice_Site_p.Q806Q|AP1B1_ENST00000357586.2_Splice_Site_p.Q813Q|AP1B1_ENST00000472057.1_5'UTR|SNORD125_ENST00000459538.1_RNA			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	813					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.Q813Q(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGAACCCACCTGGAGGTTGT	0.627																																						uc003afj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2437-2439)CAG>CAA		adaptor-related protein complex 1 beta 1 subunit							73.0	67.0	69.0					22																	29727776		2203	4300	6503	SO:0001630	splice_region_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727776C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2439+1G>A	22.37:g.29727776C>T						AP1B1_uc003afi.2_Silent_p.Q806Q|AP1B1_uc003afk.2_Silent_p.Q806Q|AP1B1_uc003afl.2_Silent_p.Q786Q|AP1B1_uc003afh.2_Silent_p.Q10Q|AP1B1_uc011ako.1_Silent_p.Q366Q	p.Q813Q	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			18	2623	-			813					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.2439G>A	CCDS13855.1																																																																																				PASS	0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	Silent	8	23	8	23	---	---	---	---
PES1	23481	broad.mit.edu	37	22	30975749	30975750	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:30975749_30975750CC>TT	ENST00000405677.1	-	14	1868_1869	c.925_926GG>AA	c.(925-927)GGa>AAa	p.G309K	PES1_ENST00000335214.6_Missense_Mutation_p.G443K|PES1_ENST00000402281.1_Missense_Mutation_p.G309K|PES1_ENST00000402284.3_Missense_Mutation_p.G431K|PES1_ENST00000354694.7_Missense_Mutation_p.G448K	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.G448R(1)|p.G448K(1)|p.G448E(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGGTCCTCTCCCCGCTGCAGA	0.619																																						uc003aij.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1342-1344)GGA>GAA|c.(1342-1344)GGA>AGA		pescadillo homolog 1, containing BRCT domain																																				SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975749C>T|g.chr22:30975750C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.925_926delinsTT	22.37:g.30975749_30975750delinsTT	ENSP00000385654:p.Gly309Lys					PES1_uc003aik.1_Missense_Mutation_p.G443E|PES1_uc003ail.1_Missense_Mutation_p.G431E|PES1_uc003aim.1_Missense_Mutation_p.G448E|PES1_uc003ain.1_Missense_Mutation_p.G309E|PES1_uc003aio.1_Missense_Mutation_p.G309E|PES1_uc003aik.1_Missense_Mutation_p.G443R|PES1_uc003ail.1_Missense_Mutation_p.G431R|PES1_uc003aim.1_Missense_Mutation_p.G448R|PES1_uc003ain.1_Missense_Mutation_p.G309R|PES1_uc003aio.1_Missense_Mutation_p.G309R	p.G448E|p.G448R	NM_014303	NP_055118	O00541	PESC_HUMAN			12	1417|1416	-			448						Missense_Mutation	SNP	ENST00000405677.1	37	c.1343G>A|c.1342G>A																																																																																					PASS	0.619	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		10	33	10	33	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121252	38121252	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:38121252C>T	ENST00000406386.3	+	7	2944	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	897					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)	p.P897S(1)		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)					GAATTCATCTCCCCATCGTAC	0.547																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2689-2691)CCC>TCC		TRIO and F-actin binding protein isoform 6							137.0	150.0	146.0					22																	38121252		2020	4161	6181	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.chr22:38121252C>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.2689C>T	22.37:g.38121252C>T	ENSP00000384312:p.Pro897Ser					TRIOBP_uc003atu.2_Missense_Mutation_p.P725S|TRIOBP_uc003atq.1_Missense_Mutation_p.P897S|TRIOBP_uc003ats.1_Missense_Mutation_p.P725S	p.P897S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2960	+	Melanoma(58;0.0574)		897					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2689C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998445	0.19121	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22336	1.96	4.84	4.84	0.62591	.	.	.	.	.	T	0.39036	0.1063	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.03706	-1.1011	9	0.41790	T	0.15	.	14.2261	0.65860	0.0:1.0:0.0:0.0	.	897	Q9H2D6	TARA_HUMAN	S	897	ENSP00000384312:P897S	ENSP00000384312:P897S	P	+	1	0	TRIOBP	36451198	0.406000	0.25344	0.857000	0.33713	0.284000	0.27059	1.564000	0.36375	2.635000	0.89317	0.558000	0.71614	CCC		PASS	0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			43	110	43	110	---	---	---	---
SEPT3	55964	broad.mit.edu	37	22	42383754	42383754	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:42383754C>A	ENST00000396426.3	+	5	797	c.542C>A	c.(541-543)aCa>aAa	p.T181K	SEPT3_ENST00000406029.1_Missense_Mutation_p.T117K|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_Missense_Mutation_p.T181K|SEPT3_ENST00000291236.11_Missense_Mutation_p.T117K	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	181	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.T181K(2)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATCTCTCCCACAGGACACTCG	0.517																																						uc003bbr.3																			2	Substitution - Missense(2)		lung(2)		0						c.(541-543)ACA>AAA		septin 3 isoform A							180.0	123.0	143.0					22																	42383754		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42383754C>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.542C>A	22.37:g.42383754C>A	ENSP00000379704:p.Thr181Lys					WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.T181K|SEPT3_uc010gyr.2_Missense_Mutation_p.T117K|SEPT3_uc011apj.1_Missense_Mutation_p.T117K|SEPT3_uc010gys.2_5'UTR	p.T181K	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			5	680	+			181					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.542C>A	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296204	0.81025	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.11	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	M	0.90759	3.145	0.80722	D	1	P;D;P;P	0.58970	0.905;0.984;0.884;0.905	B;D;B;P	0.65684	0.327;0.937;0.33;0.562	T	0.73366	-0.4005	10	0.52906	T	0.07	.	15.3451	0.74330	0.1406:0.8593:0.0:0.0	.	117;117;181;181	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	K	168;181;117;181;117	ENSP00000391416:T168K;ENSP00000379704:T181K;ENSP00000383956:T117K;ENSP00000379703:T181K;ENSP00000291236:T117K	ENSP00000291236:T117K	T	+	2	0	SEPT3	40713700	1.000000	0.71417	0.147000	0.22382	0.963000	0.63663	7.755000	0.85180	1.283000	0.44513	0.563000	0.77884	ACA		PASS	0.517	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		5	26	5	26	---	---	---	---
ARHGAP8	23779	broad.mit.edu	37	22	45198006	45198006	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:45198006G>T	ENST00000389774.2	+	3	270	c.129G>T	c.(127-129)atG>atT	p.M43I	ARHGAP8_ENST00000517296.3_Missense_Mutation_p.M297I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.M174I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.M43I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.M165I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.M43I|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.M297I	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	43	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.M79I(1)|p.M43I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GCTGCCGGATGCCACCCTCCC	0.582																																						uc003bfd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(889-891)ATG>ATT		Rho GTPase activating protein 8 isoform 2							141.0	118.0	126.0					22																	45198006		2203	4300	6503	SO:0001583	missense	553158							g.chr22:45198006G>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.129G>T	22.37:g.45198006G>T	ENSP00000374424:p.Met43Ile					PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.M174I|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.M165I|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.M79I|ARHGAP8_uc003bfi.2_Missense_Mutation_p.M43I|ARHGAP8_uc010gzv.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfj.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfk.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.M79I	p.M297I	NM_181335	NP_851852					9	1163	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.891G>T	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.757460|2.757460	0.49468|0.49468	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	.|T;T;T;T;T;T;T;T;T	.|0.62639	.|0.01;1.86;1.86;0.01;0.01;0.01;0.01;0.01;0.01	4.28|4.28	4.28|4.28	0.50868|0.50868	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	.|0.000000	.|0.39083	.|U	.|0.001470	T|T	0.59115|0.59115	0.2170|0.2170	N|N	0.25201|0.25201	0.72|0.72	0.37516|0.37516	D|D	0.917324|0.917324	.|B;B;B;B;B;P;B;P	.|0.38395	.|0.372;0.152;0.27;0.372;0.372;0.575;0.022;0.629	.|B;B;B;B;B;B;B;P	.|0.47251	.|0.403;0.213;0.088;0.403;0.314;0.312;0.014;0.542	T|T	0.69304|0.69304	-0.5180|-0.5180	5|10	.|0.72032	.|D	.|0.01	.|.	16.002|16.002	0.80301|0.80301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|79;43;79;43;84;165;297;174	.|B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC4;B1AHC3	.|.;.;.;RHG08_HUMAN;.;.;.;.	F|I	97|174;297;297;165;43;43;43;43;43	.|ENSP00000354732:M174I;ENSP00000262731:M297I;ENSP00000429240:M297I;ENSP00000374423:M165I;ENSP00000374424:M43I;ENSP00000379425:M43I;ENSP00000337287:M43I;ENSP00000348407:M43I;ENSP00000402775:M43I	.|ENSP00000337287:M43I	C|M	+|+	2|3	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43576670|43576670	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.552000|0.552000	0.35366|0.35366	5.333000|5.333000	0.65917|0.65917	2.367000|2.367000	0.80283|0.80283	0.651000|0.651000	0.88453|0.88453	TGC|ATG		PASS	0.582	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		27	26	27	26	---	---	---	---
DENND6B	414918	broad.mit.edu	37	22	50754502	50754502	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr22:50754502G>A	ENST00000413817.3	-	8	725	c.654C>T	c.(652-654)tcC>tcT	p.S218S	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	218					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S218S(1)									TGTCCACCCTGGATGGGATGC	0.622																																						uc011aru.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(652-654)TCC>TCT		family with sequence similarity 116, member B							83.0	93.0	89.0					22																	50754502		2086	4209	6295	SO:0001819	synonymous_variant	414918							g.chr22:50754502G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.654C>T	22.37:g.50754502G>A						FAM116B_uc011arv.1_Silent_p.S218S	p.S218S	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	726	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	218					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.654C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	5.685	0.310931	0.10733	.	.	ENSG00000205593	ENST00000433760	.	.	.	4.6	2.52	0.30459	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.21256	N	0.999742	.	.	.	.	.	.	T	0.21280	-1.0250	4	.	.	.	-11.6292	6.2403	0.20787	0.1011:0.188:0.7109:0.0	.	.	.	.	L	239	.	.	P	-	2	0	FAM116B	49097074	0.046000	0.20272	0.286000	0.24833	0.798000	0.45092	-0.312000	0.08113	0.569000	0.29329	-0.334000	0.08254	CCA		PASS	0.622	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		19	64	19	64	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17043189	17043189	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:17043189C>A	ENST00000357277.3	+	4	725	c.554C>A	c.(553-555)aCa>aAa	p.T185K	REPS2_ENST00000303843.7_Missense_Mutation_p.T184K|REPS2_ENST00000380064.4_Missense_Mutation_p.T45K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	185					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.T46K(1)|p.T185K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AAGCAGGAAACACAGTCTCCC	0.572																																						uc004cxv.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(553-555)ACA>AAA		RALBP1 associated Eps domain containing 2							178.0	139.0	152.0					X																	17043189		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17043189C>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.554C>A	X.37:g.17043189C>A	ENSP00000349824:p.Thr185Lys					REPS2_uc004cxw.1_Missense_Mutation_p.T184K|REPS2_uc011miw.1_Missense_Mutation_p.T44K	p.T185K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			4	725	+	Hepatocellular(33;0.183)		185					A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.554C>A	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825561	0.50739	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.33865	1.42;1.39;1.48	5.0	5.0	0.66597	.	0.258559	0.27725	N	0.018113	T	0.24967	0.0606	L	0.29908	0.895	0.33073	D	0.535686	B;B;B	0.18741	0.0;0.024;0.03	B;B;B	0.14023	0.001;0.01;0.01	T	0.17018	-1.0383	10	0.06099	T	0.92	-10.8187	15.5345	0.75993	0.0:1.0:0.0:0.0	.	45;184;185	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	K	185;185;184;45	ENSP00000349824:T185K;ENSP00000306033:T184K;ENSP00000369404:T45K	ENSP00000306033:T184K	T	+	2	0	REPS2	16953110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.149000	0.42244	2.213000	0.71641	0.600000	0.82982	ACA		PASS	0.572	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		13	30	13	30	---	---	---	---
PDHA1	5160	broad.mit.edu	37	X	19368220	19368220	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:19368220G>T	ENST00000422285.2	+	3	388	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	PDHA1_ENST00000379805.3_Missense_Mutation_p.D95Y|PDHA1_ENST00000545074.1_Missense_Mutation_p.D95Y|PDHA1_ENST00000540249.1_Missense_Mutation_p.D95Y|PDHA1_ENST00000379806.5_Missense_Mutation_p.D133Y			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	95					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.D95Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TCACTTGTGTGATGGTCAGGT	0.423																																						uc004czg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GAT>TAT		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						281.0	232.0	248.0					X																	19368220		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19368220G>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.283G>T	X.37:g.19368220G>T	ENSP00000394382:p.Asp95Tyr					PDHA1_uc004czh.3_Missense_Mutation_p.D130Y|PDHA1_uc011mjc.1_Missense_Mutation_p.D92Y|PDHA1_uc011mjd.1_Missense_Mutation_p.D92Y|PDHA1_uc010nfk.2_Missense_Mutation_p.D92Y	p.D95Y	NM_000284	NP_000275	P08559	ODPA_HUMAN			3	428	+	Hepatocellular(33;0.183)		95					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.283G>T	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529353	0.85706	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	5.17	5.17	0.71159	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	L	0.56199	1.76	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.871;1.0;0.994;0.999;0.994	D	0.99050	1.0827	10	0.66056	D	0.02	-15.072	18.046	0.89332	0.0:0.0:1.0:0.0	.	95;95;95;133;95	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	Y	133;95;95;133;95;95;95	ENSP00000369134:D133Y;ENSP00000438550:D95Y;ENSP00000440761:D95Y;ENSP00000406473:D133Y;ENSP00000394382:D95Y;ENSP00000348062:D95Y;ENSP00000369133:D95Y	ENSP00000348062:D95Y	D	+	1	0	PDHA1	19278141	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.328000	0.96403	2.283000	0.76528	0.600000	0.82982	GAT		PASS	0.423	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			47	13	47	13	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149721	34149721	+	Silent	SNP	C	C	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:34149721C>T	ENST00000346193.3	-	1	726	c.675G>A	c.(673-675)ccG>ccA	p.P225P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	225	Pro-rich.							p.P225P(2)		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						CAGGAGGCTCCGGGCGGAGAC	0.657																																						uc004ddg.2																			2	Substitution - coding silent(2)	p.P225P(1)	ovary(1)|lung(1)	ovary(4)|central_nervous_system(1)	5						c.(673-675)CCG>CCA		hypothetical protein LOC158724																																				SO:0001819	synonymous_variant	158724							g.chrX:34149721C>T	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.675G>A	X.37:g.34149721C>T							p.P225P	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	708	-			225			Pro-rich.		A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.675G>A	CCDS43926.1																																																																																				PASS	0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		18	4	18	4	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105280577	105280577	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:105280577A>T	ENST00000327674.4	-	1	808	c.473T>A	c.(472-474)gTc>gAc	p.V158D	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V158D|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V158D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTAGAAAAGACTTCAGTCTC	0.438																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GTC>GAC		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						166.0	155.0	159.0					X																	105280577		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280577A>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.473T>A	X.37:g.105280577A>T	ENSP00000329374:p.Val158Asp					SERPINA7_uc010npd.2_Missense_Mutation_p.V158D|SERPINA7_uc010npe.1_Missense_Mutation_p.V158D	p.V158D	NM_000354	NP_000345	P05543	THBG_HUMAN			1	489	-			158					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.473T>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606356	0.28623	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.86497	-2.13;-2.13	4.7	2.36	0.29203	Serpin domain (3);	0.395100	0.23646	N	0.045961	D	0.91321	0.7263	M	0.83312	2.635	0.22017	N	0.999418	D	0.76494	0.999	D	0.69142	0.962	T	0.82313	-0.0519	10	0.66056	D	0.02	.	5.1423	0.14965	0.6673:0.0:0.3327:0.0	.	158	P05543	THBG_HUMAN	D	158	ENSP00000329374:V158D;ENSP00000361644:V158D	ENSP00000329374:V158D	V	-	2	0	SERPINA7	105167233	0.000000	0.05858	0.001000	0.08648	0.472000	0.32918	0.106000	0.15354	0.741000	0.32674	0.481000	0.45027	GTC		PASS	0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		77	23	77	23	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108635314	108635314	+	Silent	SNP	G	G	C			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:108635314G>C	ENST00000218006.2	-	14	2898	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	869					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L869L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGCCCTTTTTGAGAGATTCAG	0.463																																						uc004eod.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2605-2607)CTC>CTG		guanylate cyclase 2F precursor							72.0	63.0	66.0					X																	108635314		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108635314G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2607C>G	X.37:g.108635314G>C						GUCY2F_uc011msq.1_RNA	p.L869L	NM_001522	NP_001513	P51841	GUC2F_HUMAN			14	2883	-			869			Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2607C>G	CCDS14545.1																																																																																				PASS	0.463	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		10	22	10	22	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111025218	111025218	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:111025218C>G	ENST00000262839.2	-	8	2963	c.2045G>C	c.(2044-2046)tGc>tCc	p.C682S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	682					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.C682S(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTTTGGGGCAGAAGGTGTT	0.418																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2044-2046)TGC>TCC		transient receptor potential cation channel,							134.0	128.0	130.0					X																	111025218		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025218C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2045G>C	X.37:g.111025218C>G	ENSP00000262839:p.Cys682Ser					TRPC5_uc004epm.1_Missense_Mutation_p.C682S	p.C682S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			8	2964	-			682			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2045G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273854	0.59649	.	.	ENSG00000072315	ENST00000262839	T	0.80393	-1.37	5.72	4.74	0.60224	.	0.047754	0.85682	D	0.000000	T	0.78616	0.4311	L	0.54323	1.7	0.80722	D	1	P;P	0.41929	0.765;0.474	B;B	0.43445	0.42;0.224	T	0.80712	-0.1260	10	0.59425	D	0.04	-2.3917	12.1821	0.54218	0.0:0.8794:0.0:0.1206	.	683;682	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	682	ENSP00000262839:C682S	ENSP00000262839:C682S	C	-	2	0	TRPC5	110911874	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.565000	0.60836	2.410000	0.81850	0.594000	0.82650	TGC		PASS	0.418	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		56	22	56	22	---	---	---	---
RBMX2	51634	broad.mit.edu	37	X	129545364	129545364	+	Missense_Mutation	SNP	C	C	T	rs373592866		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:129545364C>T	ENST00000305536.6	+	5	410	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	116							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R116W(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GTCTAACTATCGGGCTCCTAA	0.488																																						uc004evt.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(346-348)CGG>TGG		RNA binding motif protein, X-linked 2		C	TRP/ARG	0,3220		0,0,1325,570	147.0	131.0	136.0		346	4.2	1.0	X		136	1,6427		0,1,2320,1786	no	missense	RBMX2	NM_016024.2	101	0,1,3645,2356	TT,TC,CC,C		0.0156,0.0,0.0104	probably-damaging	116/323	129545364	1,9647	1895	4107	6002	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545364C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.346C>T	X.37:g.129545364C>T	ENSP00000339090:p.Arg116Trp						p.R116W	NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN			5	410	+			116					A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.346C>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620471	0.87460	0.0	1.56E-4	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.16743	2.32	5.13	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	M	0.82323	2.585	0.80722	D	1	D	0.71674	0.998	P	0.58266	0.836	T	0.39623	-0.9605	10	0.87932	D	0	.	12.3098	0.54922	0.1688:0.8312:0.0:0.0	.	116	Q9Y388	RBMX2_HUMAN	W	116	ENSP00000339090:R116W	ENSP00000339090:R116W	R	+	1	2	RBMX2	129373045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.882000	0.56160	2.281000	0.76405	0.529000	0.55759	CGG		PASS	0.488	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		11	45	11	45	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303874	151303874	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:151303874C>A	ENST00000370323.4	-	4	535	c.219G>T	c.(217-219)gaG>gaT	p.E73D	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73D|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	73						nucleus (GO:0005634)		p.E73D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGAAACCTCCTCTGGGG	0.532																																						uc004ffk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GAG>GAT		melanoma antigen family A, 10							115.0	117.0	116.0					X																	151303874		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303874C>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.219G>T	X.37:g.151303874C>A	ENSP00000359347:p.Glu73Asp					MAGEA10_uc004ffl.2_Missense_Mutation_p.E73D	p.E73D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	627	-	Acute lymphoblastic leukemia(192;6.56e-05)		73						Missense_Mutation	SNP	ENST00000370323.4	37	c.219G>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	5.608	0.296860	0.10622	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	1.75	1.75	0.24633	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.10035	0.0246	M	0.69358	2.11	0.09310	N	1	B	0.28584	0.216	B	0.42771	0.397	T	0.30327	-0.9982	9	0.35671	T	0.21	.	6.4541	0.21920	0.0:1.0:0.0:0.0	.	73	P43363	MAGAA_HUMAN	D	73	ENSP00000359347:E73D;ENSP00000244096:E73D;ENSP00000406161:E73D;ENSP00000391977:E73D	ENSP00000244096:E73D	E	-	3	2	MAGEA10	151054530	0.000000	0.05858	0.009000	0.14445	0.043000	0.13939	-1.825000	0.01707	1.186000	0.42985	0.287000	0.19450	GAG		PASS	0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		5	66	5	66	---	---	---	---
DNASE1L1	1774	broad.mit.edu	37	X	153631373	153631373	+	Silent	SNP	G	G	A			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chrX:153631373G>A	ENST00000393638.1	-	7	970	c.684C>T	c.(682-684)cgC>cgT	p.R228R	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Silent_p.R228R	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	228					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.R228R(1)		lung(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)					GCAGCACGACGCGGTCATAGG	0.647																																						uc004fks.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(682-684)CGC>CGT		deoxyribonuclease I-like 1 precursor							53.0	50.0	51.0					X																	153631373		2203	4299	6502	SO:0001819	synonymous_variant	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631373G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.684C>T	X.37:g.153631373G>A						RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.R228R|DNASE1L1_uc004fku.1_Silent_p.R228R|DNASE1L1_uc004fkv.1_Silent_p.R228R|DNASE1L1_uc004fkw.1_Silent_p.R228R	p.R228R	NM_006730	NP_006721	P49184	DNSL1_HUMAN			7	875	-	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)		228					D3DWW7|Q5HY41	Silent	SNP	ENST00000393638.1	37	c.684C>T	CCDS14747.1																																																																																				PASS	0.647	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			10	15	10	15	---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195962122	195962123	+	3'UTR	INS	-	-	A	rs370723733		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr3:195962122_195962123insA	ENST00000292823.2	-	0	4712_4713				SLC51A_ENST00000479732.1_Intron|PCYT1A_ENST00000419333.1_Intron	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GTGCAGCCTCCAAAAAAAAATC	0.495																																						uc003fwf.1																			0													Homo sapiens full length insert cDNA clone ZD56D02.																																				SO:0001624	3_prime_UTR_variant	0							g.chr3:195962122_195962123insA	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.*3437->T	3.37:g.195962131_195962131dupA														1		-								A9LYK9|D3DXB1|Q86Y88	RNA	INS	ENST00000292823.2	37	c.2663_2664insT	CCDS3315.1																																																																																					0.495	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		4	2	4	2	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735463	54735463	+	Frame_Shift_Del	DEL	G	G	-	rs527766752		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:54735463delG	ENST00000306858.7	+	2	535	c.419delG	c.(418-420)cggfs	p.R140fs		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	140										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAACTATTCGGAAGATGATA	0.358																																						uc003pck.2																			0		p.R140R(1)		ovary(6)	6						c.(418-420)CGGfs		hypothetical protein LOC222584							45.0	47.0	46.0					6																	54735463		2203	4299	6502	SO:0001589	frameshift_variant	222584							g.chr6:54735463delG	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.419delG	6.37:g.54735463delG	ENSP00000304078:p.Arg140fs						p.R140fs	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	535	+	Lung NSC(77;0.0178)|Renal(3;0.122)		140					Q2M1P3|Q96DQ2	Frame_Shift_Del	DEL	ENST00000306858.7	37	c.419delG	CCDS34479.1																																																																																					0.358	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		42	22	42	22	---	---	---	---
RP3-470B24.5	0	broad.mit.edu	37	6	168376961	168376962	+	lincRNA	INS	-	-	GT			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr6:168376961_168376962insGT	ENST00000538528.1	-	0	657_658																											TTACCCCTGCAGTGTGTTGGGA	0.634																																						uc010kks.1																			0					0						c.(370-372)ACTfs		hypothetical protein LOC100128124																																						100128124							g.chr6:168376961_168376962insGT																													6.37:g.168376966_168376967dupGT							p.T124fs	NM_001129895	NP_001123367	Q9UM08	Q9UM08_HUMAN			1	658_659	-			124						Frame_Shift_Ins	INS	ENST00000538528.1	37	c.371_372insAC																																																																																						0.634	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				4	2	4	2	---	---	---	---
SSC4D	136853	broad.mit.edu	37	7	76023195	76023195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr7:76023195delG	ENST00000275560.3	-	8	1320	c.973delC	c.(973-975)cggfs	p.R325fs	SRCRB4D_ENST00000492979.2_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTGTCTCCCGGGAAGGCTGG	0.682																																						uc003ufb.2																			0				pancreas(1)	1						c.(973-975)CGGfs		scavenger receptor cysteine rich domain							32.0	32.0	32.0					7																	76023195		2203	4299	6502	SO:0001589	frameshift_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76023195delG																												ENST00000275560.3:c.973delC	7.37:g.76023195delG	ENSP00000275560:p.Arg325fs					SRCRB4D_uc003ufa.2_5'Flank	p.R325fs	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			8	1321	-			325						Frame_Shift_Del	DEL	ENST00000275560.3	37	c.973delC	CCDS5585.1																																																																																					0.682	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			4	2	4	2	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												uc003yyc.1																			3	Deletion - In frame(3)		upper_aerodigestive_tract(2)|breast(1)		0						c.(619-624)CACCAT>CAT		v-maf musculoaponeurotic fibrosarcoma oncogene																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)					p.207_208HH>H	NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	621_623	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207_208			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																					0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		7	4	7	4	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475852	120475852	+	Frame_Shift_Del	DEL	T	T	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr9:120475852delT	ENST00000355622.6	+	3	1547	c.1446delT	c.(1444-1446)tctfs	p.S482fs	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Frame_Shift_Del_p.S442fs	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	482					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|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 interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGGCAATTCTTTCCAGGAAA	0.443																																						uc004bjz.2																			0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1444-1446)TCTfs		toll-like receptor 4 precursor							85.0	85.0	85.0					9																	120475852		2203	4300	6503	SO:0001589	frameshift_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475852delT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1446delT	9.37:g.120475852delT	ENSP00000363089:p.Ser482fs					TLR4_uc004bka.2_Frame_Shift_Del_p.S442fs|TLR4_uc004bkb.2_Frame_Shift_Del_p.S282fs	p.S482fs	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1737	+			482			LRR 15.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Frame_Shift_Del	DEL	ENST00000355622.6	37	c.1446delT	CCDS6818.1																																																																																					0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		26	34	26	34	---	---	---	---
PTCHD3P1	387647	broad.mit.edu	37	10	29710953	29710953	+	RNA	DEL	G	G	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr10:29710953delG	ENST00000427063.2	+	0	1677				PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000608994.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000609413.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NR_003930.1				patched domain containing 3 pseudogene 1																		ACACCAAAGTGGGAGACATTC	0.542																																						uc001ium.2																			0					0								Homo sapiens cDNA FLJ31518 fis, clone NT2RI2000064.																																						387647							g.chr10:29710953delG			10p11.23	2014-08-07			ENSG00000274985	ENSG00000224597			44945	pseudogene	pseudogene							Standard	NG_034006		Approved		uc001iuq.2		OTTHUMG00000187781		10.37:g.29710953delG						LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|LOC387647_uc001iun.2_RNA								3		+									RNA	DEL	ENST00000427063.2	37	c.1720delG																																																																																						0.542	PTCHD3P1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000047385.1	NG_034006		4	2	4	2	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57988919	57988919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr12:57988919delC	ENST00000354947.5	+	3	299	c.283delC	c.(283-285)cccfs	p.P95fs	PIP4K2C_ENST00000550465.1_Intron|PIP4K2C_ENST00000540759.2_Frame_Shift_Del_p.P95fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Del_p.P95fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	95	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGAAAATCTGCCCAGTCATTT	0.373																																						uc001sou.2																			0				central_nervous_system(2)|lung(1)	3						c.(283-285)CCCfs		phosphatidylinositol-5-phosphate 4-kinase, type							154.0	166.0	162.0					12																	57988919		2203	4300	6503	SO:0001589	frameshift_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57988919delC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.283delC	12.37:g.57988919delC	ENSP00000347032:p.Pro95fs					PIP4K2C_uc001sot.2_Frame_Shift_Del_p.P95fs|PIP4K2C_uc010srs.1_Intron|PIP4K2C_uc010srt.1_Frame_Shift_Del_p.P95fs	p.P95fs	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			3	414	+	Melanoma(17;0.122)		95			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Frame_Shift_Del	DEL	ENST00000354947.5	37	c.283delC	CCDS8946.1																																																																																					0.373	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		90	51	90	51	---	---	---	---
WHAMM	123720	broad.mit.edu	37	15	83486821	83486822	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr15:83486821_83486822delAG	ENST00000286760.4	+	4	1183_1184	c.1084_1085delAG	c.(1084-1086)agafs	p.R362fs		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	362	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AAATCACAAAAGAGCTGAAATT	0.342																																						uc002bje.2																			0					0						c.(1084-1086)AGAfs		WAS protein homolog associated with actin, golgi																																				SO:0001589	frameshift_variant	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83486821_83486822delAG	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1084_1085delAG	15.37:g.83486823_83486824delAG	ENSP00000286760:p.Arg362fs						p.R362fs	NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN			4	1590_1591	+			362					Q8N1J9	Frame_Shift_Del	DEL	ENST00000286760.4	37	c.1084_1085delAG	CCDS45333.1																																																																																					0.342	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			5	5	5	5	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940929	22940929	+	Frame_Shift_Del	DEL	T	T	-			TCGA-18-3410-01A-01D-0983-08	TCGA-18-3410-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e6382c3-368a-43a5-9812-c58f54ceba3f	8a207aee-58f5-439c-8445-f42e9f27023f	g.chr19:22940929delT	ENST00000596209.1	-	4	1872	c.1782delA	c.(1780-1782)aaafs	p.K594fs	ZNF99_ENST00000397104.3_Frame_Shift_Del_p.K503fs	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTTCACATTTGTAGGGTT	0.373																																						uc010xrh.1																			0				ovary(1)|skin(1)	2						c.(1507-1509)AAAfs		zinc finger protein 99							44.0	49.0	47.0					19																	22940929		2058	4237	6295	SO:0001589	frameshift_variant	7652							g.chr19:22940929delT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1782delA	19.37:g.22940929delT	ENSP00000472969:p.Lys594fs						p.K503fs	NM_001080409	NP_001073878					5	1509	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Del	DEL	ENST00000596209.1	37	c.1509delA	CCDS59369.1																																																																																					0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		51	47	51	47	---	---	---	---
