#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
RAP1GAP	5909	broad.mit.edu	37	1	21934781	21934781	+	Silent	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:21934781G>T	ENST00000374765.4	-	17	1421	c.1221C>A	c.(1219-1221)tcC>tcA	p.S407S	RAP1GAP_ENST00000374763.2_Silent_p.S407S|RAP1GAP_ENST00000290101.4_Silent_p.S471S|RAP1GAP_ENST00000374761.2_Silent_p.S438S|RAP1GAP_ENST00000542643.2_Silent_p.S407S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	407					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.S438S(1)|p.S407S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGCCCATCATGGACTGGCTGT	0.647																																						uc001bex.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(1219-1221)TCC>TCA		RAP1 GTPase activating protein isoform c							70.0	66.0	67.0					1																	21934781		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21934781G>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1221C>A	1.37:g.21934781G>T						RAP1GAP_uc001bev.2_Silent_p.S407S|RAP1GAP_uc001bew.2_Silent_p.S471S|RAP1GAP_uc001bey.2_Silent_p.S407S	p.S407S	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1479	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	407					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1221C>A	CCDS218.1																																																																																				PASS	0.647	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		20	57	20	57	---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27608757	27608757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:27608757G>T	ENST00000319394.3	+	4	695	c.160G>T	c.(160-162)Gag>Tag	p.E54*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.E54*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	54					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.E54*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACTGTCTGGAGTGGAATGA	0.522																																						uc009vst.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(160-162)GAG>TAG		WD and tetratricopeptide repeats 1							114.0	98.0	104.0					1																	27608757		2203	4300	6503	SO:0001587	stop_gained	23038						protein binding	g.chr1:27608757G>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.160G>T	1.37:g.27608757G>T	ENSP00000317971:p.Glu54*					WDTC1_uc001bno.2_Nonsense_Mutation_p.E54*|WDTC1_uc001bnp.1_RNA	p.E54*	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	4	695	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	54			WD 1.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	ENST00000319394.3	37	c.160G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.845586	0.98522	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	17.1641	0.86810	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000317971:E54X	E	+	1	0	WDTC1	27481344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.976000	0.93442	2.612000	0.88384	0.655000	0.94253	GAG		PASS	0.522	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		35	27	35	27	---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29362386	29362386	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:29362386G>T	ENST00000343067.4	+	10	1541	c.1414G>T	c.(1414-1416)Gca>Tca	p.A472S	EPB41_ENST00000373798.1_Missense_Mutation_p.A472S|EPB41_ENST00000373800.3_Missense_Mutation_p.A263S|EPB41_ENST00000398863.2_Missense_Mutation_p.A472S|EPB41_ENST00000349460.4_Missense_Mutation_p.A263S|EPB41_ENST00000373797.1_Missense_Mutation_p.A472S|EPB41_ENST00000356093.2_Missense_Mutation_p.A472S|EPB41_ENST00000347529.3_Missense_Mutation_p.A437S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	472	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A472S(1)|p.A263S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGTTACCGAGCAGCTAAGAA	0.333																																						uc001brm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1414-1416)GCA>TCA		erythrocyte membrane protein band 4.1							123.0	119.0	120.0					1																	29362386		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29362386G>T	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1414G>T	1.37:g.29362386G>T	ENSP00000345259:p.Ala472Ser					EPB41_uc001brg.1_Missense_Mutation_p.A263S|EPB41_uc001brh.1_Missense_Mutation_p.A263S|EPB41_uc001bri.1_Missense_Mutation_p.A437S|EPB41_uc001brj.1_Missense_Mutation_p.A263S|EPB41_uc009vtk.1_Missense_Mutation_p.A437S|EPB41_uc001brk.2_Missense_Mutation_p.A472S|EPB41_uc001brl.1_Missense_Mutation_p.A472S|EPB41_uc009vtl.1_Missense_Mutation_p.A263S|EPB41_uc009vtm.1_Missense_Mutation_p.A105S	p.A472S	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	9	1421	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	472			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1414G>T	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049805	0.93740	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91102	0.7199	L	0.43152	1.355	0.80722	D	1	D;B;D;D;D;D;D;D;D;D	0.89917	0.981;0.385;1.0;0.981;0.999;1.0;0.999;1.0;0.988;1.0	D;P;D;D;D;D;D;D;D;D	0.97110	0.97;0.86;1.0;0.985;0.999;0.999;1.0;0.999;0.992;0.999	D	0.89843	0.4004	10	0.37606	T	0.19	.	18.5585	0.91093	0.0:0.0:1.0:0.0	.	366;472;472;472;472;472;489;437;263;263	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	489;472;472;472;366;472;263;263;437;472;472	ENSP00000345259:A472S;ENSP00000348397:A472S;ENSP00000381839:A472S;ENSP00000317597:A263S;ENSP00000362906:A263S;ENSP00000290100:A437S;ENSP00000362904:A472S;ENSP00000362903:A472S	ENSP00000345259:A472S	A	+	1	0	EPB41	29234973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.617000	0.88574	0.655000	0.94253	GCA		PASS	0.333	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		16	40	16	40	---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44595677	44595677	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:44595677C>A	ENST00000372299.3	+	2	792	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	245					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S245Y(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAGCCAGACTCTCAAGAAGGC	0.567																																						uc001clp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(733-735)TCT>TAT		zinc finger protein 393							66.0	66.0	66.0					1																	44595677		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595677C>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.734C>A	1.37:g.44595677C>A	ENSP00000361373:p.Ser245Tyr					KLF17_uc009vxf.1_Missense_Mutation_p.S208Y	p.S245Y	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	792	+	Acute lymphoblastic leukemia(166;0.155)		245					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.734C>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424569	0.43020	.	.	ENSG00000171872	ENST00000372299	T	0.11604	2.76	4.78	-2.09	0.07232	.	1.392790	0.04400	N	0.364069	T	0.07728	0.0194	L	0.32530	0.975	0.09310	N	1	P	0.42620	0.785	B	0.38428	0.273	T	0.30880	-0.9963	10	0.29301	T	0.29	.	4.5717	0.12214	0.0:0.3354:0.2917:0.373	.	245	Q5JT82	KLF17_HUMAN	Y	245	ENSP00000361373:S245Y	ENSP00000361373:S245Y	S	+	2	0	KLF17	44368264	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	-0.347000	0.08299	-0.355000	0.07637	TCT		PASS	0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		18	46	18	46	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53108671	53108671	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:53108671G>A	ENST00000517870.1	+	2	469	c.319G>A	c.(319-321)Gca>Aca	p.A107T	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	107						integral component of membrane (GO:0016021)		p.A107T(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CTTACAGACAGCAGGTAAGGA	0.483																																						uc001cuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GCA>ACA		hypothetical protein LOC348378							125.0	114.0	118.0					1																	53108671		2013	4170	6183	SO:0001583	missense	348378					integral to membrane		g.chr1:53108671G>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.319G>A	1.37:g.53108671G>A	ENSP00000429726:p.Ala107Thr					FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	p.A107T	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			2	419	+			107					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.319G>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	G	3.082	-0.188704	0.06299	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.71	-1.75	0.08031	.	0.683956	0.11707	N	0.537281	T	0.13415	0.0325	N	0.01874	-0.695	0.24235	N	0.995381	B	0.02656	0.0	B	0.06405	0.002	T	0.29305	-1.0016	9	0.23891	T	0.37	.	11.4828	0.50335	0.3879:0.0:0.6121:0.0	.	107	Q6UWV7	F159A_HUMAN	T	107	.	ENSP00000429726:A107T	A	+	1	0	FAM159A	52881259	0.003000	0.15002	0.120000	0.21714	0.824000	0.46624	0.004000	0.13106	-0.210000	0.10140	-0.471000	0.05019	GCA		PASS	0.483	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		52	36	52	36	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70486789	70486789	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:70486789G>A	ENST00000035383.5	+	14	1438	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Start_Codon_SNP_p.M1I|LRRC7_ENST00000310961.5_Missense_Mutation_p.D475N|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	470						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D470N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGAAGATGACGAAAATGC	0.378																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1408-1410)GAC>AAC		leucine rich repeat containing 7							92.0	86.0	88.0					1																	70486789		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70486789G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1408G>A	1.37:g.70486789G>A	ENSP00000035383:p.Asp470Asn					LRRC7_uc009wbg.2_Missense_Mutation_p.M1I	p.D470N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			14	1438	+			470					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1408G>A	CCDS645.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.169|6.169	0.399279|0.399279	0.11696|0.11696	.|.	.|.	ENSG00000033122|ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957|ENST00000415775	T;T|T	0.38887|0.14266	1.11;1.18|2.52	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.113427|.	0.64402|.	D|.	0.000014|.	T|T	0.04272|0.04272	0.0118|0.0118	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	B|B	0.32245|0.13594	0.361|0.008	B|B	0.24541|0.13407	0.054|0.009	T|T	0.41305|0.41305	-0.9516|-0.9516	10|9	0.25106|0.87932	T|D;D	0.35|0;0	.|.	18.8773|18.8773	0.92343|0.92343	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470|1	Q96NW7|F8WE45	LRRC7_HUMAN|.	N|I	475;470;293|1	ENSP00000309245:D475N;ENSP00000035383:D470N|ENSP00000394867:M1I	ENSP00000035383:D470N|ENSP00000394867:M1I;ENSP00000394867:M1I	D|M	+|+	1|3	0|0	LRRC7|LRRC7	70259377|70259377	1.000000|1.000000	0.71417|0.71417	0.513000|0.513000	0.27749|0.27749	0.777000|0.777000	0.43975|0.43975	6.312000|6.312000	0.72840|0.72840	2.689000|2.689000	0.91719|0.91719	0.655000|0.655000	0.94253|0.94253	GAC|ATG		PASS	0.378	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	21	23	21	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151491775	151491775	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:151491775C>A	ENST00000271636.7	+	2	913	c.780C>A	c.(778-780)ctC>ctA	p.L260L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	254	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.L260L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTCCTCTCAGTGGCTTTA	0.582																																						uc009wmw.2																			2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(778-780)CTC>CTA		cingulin							58.0	61.0	60.0					1																	151491775		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491775C>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.780C>A	1.37:g.151491775C>A							p.L260L	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	924	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		254			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.780C>A	CCDS999.1																																																																																				PASS	0.582	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		17	50	17	50	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285018	152285018	+	Missense_Mutation	SNP	G	G	A	rs558836936		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:152285018G>A	ENST00000368799.1	-	3	2379	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	782	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R782W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCCTGACCGGTCACGTGCG	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2344-2346)CGG>TGG		filaggrin							329.0	315.0	320.0					1																	152285018		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285018G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2344C>T	1.37:g.152285018G>A	ENSP00000357789:p.Arg782Trp					uc001ezv.2_5'Flank	p.R782W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2380	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		782			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2344C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.050	0.765816	0.15983	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	3.04	3.04	0.35103	.	.	.	.	.	T	0.02230	0.0069	M	0.63428	1.95	0.09310	N	1	D	0.63880	0.993	P	0.54590	0.756	T	0.43798	-0.9369	9	0.72032	D	0.01	.	9.4416	0.38673	0.0:0.0:1.0:0.0	.	782	P20930	FILA_HUMAN	W	782	ENSP00000357789:R782W	ENSP00000357789:R782W	R	-	1	2	FLG	150551642	0.002000	0.14202	0.002000	0.10522	0.022000	0.10575	0.593000	0.23999	1.543000	0.49345	0.479000	0.44913	CGG		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		128	250	128	250	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327320	152327320	+	Nonsense_Mutation	SNP	G	G	T	rs370804010		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:152327320G>T	ENST00000388718.5	-	3	3014	c.2942C>A	c.(2941-2943)tCa>tAa	p.S981*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	981	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATTTTCCTGAGCCTGACTC	0.493																																						uc001ezw.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2941-2943)TCA>TAA		filaggrin family member 2							257.0	259.0	258.0					1																	152327320		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152327320G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2942C>A	1.37:g.152327320G>T	ENSP00000373370:p.Ser981*					uc001ezv.2_Intron	p.S981*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3015	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		981			Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.2942C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319915	0.97471	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.96	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	6.1134	7.5738	0.27924	0.1186:0.0:0.8814:0.0	.	.	.	.	X	981	.	ENSP00000373370:S981X	S	-	2	0	FLG2	150593944	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.800000	0.27042	0.883000	0.36040	-0.254000	0.11334	TCA		PASS	0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		178	107	178	107	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159846487	159846487	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:159846487C>T	ENST00000368099.4	-	10	1275	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	CCDC19_ENST00000426543.2_Missense_Mutation_p.R319K|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.R404K(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTTTCCTTTCTGCGCCACTC	0.552																																						uc001fui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1210-1212)AGA>AAA		nasopharyngeal epithelium specific protein 1							117.0	91.0	100.0					1																	159846487		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846487C>T																												ENST00000368099.4:c.1211G>A	1.37:g.159846487C>T	ENSP00000357079:p.Arg404Lys					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R319K|CCDC19_uc001ful.2_Missense_Mutation_p.R319K|CCDC19_uc009wtc.1_Silent_p.Q403Q	p.R404K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1229	-	all_hematologic(112;0.0597)		404			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.1211G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.512892	0.44660	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.09073	3.02;3.02	5.12	-1.01	0.10169	.	0.582252	0.17475	N	0.172928	T	0.02047	0.0064	L	0.49350	1.555	0.33937	D	0.642741	B	0.06786	0.001	B	0.08055	0.003	T	0.40040	-0.9584	9	.	.	.	-1.1126	4.1235	0.10116	0.1743:0.2829:0.0:0.5427	.	404	Q9UL16	CCD19_HUMAN	K	404;319	ENSP00000357079:R404K;ENSP00000403044:R319K	.	R	-	2	0	CCDC19	158113111	0.006000	0.16342	0.932000	0.37286	0.954000	0.61252	0.022000	0.13511	-0.011000	0.14247	0.480000	0.44947	AGA		PASS	0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			10	36	10	36	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098527	160098527	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:160098527C>T	ENST00000361216.3	+	9	1192	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T368M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	368					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.T368M(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)			CTGGGCTCCACGTCCACCATC	0.607																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1102-1104)ACG>ATG		Na+/K+ -ATPase alpha 2 subunit proprotein							124.0	104.0	111.0					1																	160098527		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098527C>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.1103C>T	1.37:g.160098527C>T	ENSP00000354490:p.Thr368Met					ATP1A2_uc001fvb.2_Missense_Mutation_p.T368M|ATP1A2_uc010piz.1_Missense_Mutation_p.T213M|ATP1A2_uc001fvd.2_Missense_Mutation_p.T104M|ATP1A2_uc009wtg.1_Missense_Mutation_p.T56M	p.T368M	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1235	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		368			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1103C>T	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882708|4.882708	0.91740|0.91740	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.94613	.|-3.47;-3.47	4.77|4.77	4.77|4.77	0.60923|0.60923	.|HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97210|0.97210	0.9088|0.9088	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0	D|D	0.97964|0.97964	1.0339|1.0339	5|10	.|0.87932	.|D	.|0	.|.	16.9484|16.9484	0.86236|0.86236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213;368;268;368	.|B4DHD7;B1AKY9;F5GXJ7;P50993	.|.;.;.;AT1A2_HUMAN	C|M	79|213;368;368;71	.|ENSP00000354490:T368M;ENSP00000376066:T368M	.|ENSP00000354490:T368M	R|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365151|158365151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.757000|7.757000	0.85209|0.85209	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	CGT|ACG		PASS	0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		18	76	18	76	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167871256	167871256	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:167871256G>A	ENST00000367851.4	-	4	474	c.290C>T	c.(289-291)gCa>gTa	p.A97V	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	97	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.A97V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCCCATACCTGCAAATTTCAG	0.403																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(289-291)GCA>GTA		adenylate cyclase 10							216.0	235.0	228.0					1																	167871256		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167871256G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.290C>T	1.37:g.167871256G>A	ENSP00000356825:p.Ala97Val					ADCY10_uc009wvk.2_5'UTR|ADCY10_uc010plj.1_5'UTR|ADCY10_uc009wvl.2_Missense_Mutation_p.A96V|ADCY10_uc009wvm.2_RNA	p.A97V	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			4	588	-			97			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.290C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.620052	0.87460	.	.	ENSG00000143199	ENST00000367851	T	0.78246	-1.16	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000005	D	0.85703	0.5758	M	0.79805	2.47	0.35770	D	0.820847	D	0.89917	1.0	D	0.91635	0.999	D	0.84142	0.0418	9	0.35671	T	0.21	-17.3699	15.514	0.75809	0.0:0.0:1.0:0.0	.	97	Q96PN6	ADCYA_HUMAN	V	97	ENSP00000356825:A97V	ENSP00000356825:A97V	A	-	2	0	ADCY10	166137880	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.440000	0.66563	2.724000	0.93272	0.563000	0.77884	GCA		PASS	0.403	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		5	281	5	281	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178427462	178427462	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:178427462G>A	ENST00000462775.1	+	12	2737	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q	RASAL2_ENST00000448150.3_Missense_Mutation_p.R1001Q|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1012Q	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	871					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R871Q(1)|p.R1012Q(1)|p.R1001Q(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCCCAGATCCGAAAAGTGGAC	0.572																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2611-2613)CGA>CAA		RAS protein activator like 2 isoform 1							62.0	62.0	62.0					1																	178427462		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427462G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2612G>A	1.37:g.178427462G>A	ENSP00000420558:p.Arg871Gln					RASAL2_uc001glq.2_Missense_Mutation_p.R1012Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R385Q	p.R871Q	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2737	+			871					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2612G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838207	0.51057	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.17213	2.29;2.29;2.29	5.46	5.46	0.80206	.	0.265571	0.32753	N	0.005688	T	0.34542	0.0901	L	0.49126	1.545	0.43647	D	0.996055	P;D;P	0.60160	0.679;0.987;0.487	B;P;B	0.61397	0.13;0.888;0.08	T	0.00829	-1.1549	10	0.30078	T	0.28	.	19.321	0.94240	0.0:0.0:1.0:0.0	.	1001;871;1012	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	Q	1001;1012;871	ENSP00000407768:R1001Q;ENSP00000356621:R1012Q;ENSP00000420558:R871Q	ENSP00000356621:R1012Q	R	+	2	0	RASAL2	176694085	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	6.143000	0.71756	2.548000	0.85928	0.591000	0.81541	CGA		PASS	0.572	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		11	46	11	46	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186024775	186024775	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:186024775G>T	ENST00000271588.4	+	45	7342	c.7113G>T	c.(7111-7113)atG>atT	p.M2371I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M2371I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2371	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.M2371I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGCAGGAATGACTGACAAAA	0.413																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(7111-7113)ATG>ATT		hemicentin 1 precursor							145.0	132.0	137.0					1																	186024775		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024775G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7113G>T	1.37:g.186024775G>T	ENSP00000271588:p.Met2371Ile						p.M2371I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			45	7342	+			2371			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7113G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510904	0.44660	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100221	0.64402	D	0.000001	T	0.65606	0.2707	N	0.05158	-0.105	0.44155	D	0.996952	P	0.51449	0.945	D	0.64042	0.921	T	0.70684	-0.4804	10	0.37606	T	0.19	.	18.95	0.92638	0.0:0.0:1.0:0.0	.	2371	Q96RW7	HMCN1_HUMAN	I	2371	ENSP00000271588:M2371I;ENSP00000356462:M2371I	ENSP00000271588:M2371I	M	+	3	0	HMCN1	184291398	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.519000	0.60517	2.458000	0.83093	0.650000	0.86243	ATG		PASS	0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		41	36	41	36	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276431	186276431	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:186276431C>G	ENST00000445192.2	+	7	1625	c.1580C>G	c.(1579-1581)aCc>aGc	p.T527S	PRG4_ENST00000367483.4_Missense_Mutation_p.T486S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T434S|PRG4_ENST00000367486.3_Missense_Mutation_p.T484S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	527	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T527S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCACCACCACCAAGTCTGCA	0.637																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1579-1581)ACC>AGC		proteoglycan 4 isoform A							135.0	120.0	125.0					1																	186276431		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276431C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1580C>G	1.37:g.186276431C>G	ENSP00000399679:p.Thr527Ser					PRG4_uc001grt.3_Missense_Mutation_p.T486S|PRG4_uc009wyl.2_Missense_Mutation_p.T434S|PRG4_uc009wym.2_Missense_Mutation_p.T393S|PRG4_uc010poo.1_Intron	p.T527S	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1631	+			527			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|23.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1580C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	5.093	0.202889	0.09704	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04454	3.62;3.7;3.63;3.72	2.74	0.253	0.15551	.	.	.	.	.	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.47861	-0.9084	8	.	.	.	.	7.9529	0.30025	0.4385:0.5615:0.0:0.0	.	393;434;527;486	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	484;393;486;434;527	ENSP00000356456:T484S;ENSP00000356453:T486S;ENSP00000356455:T434S;ENSP00000399679:T527S	.	T	+	2	0	PRG4	184543054	0.002000	0.14202	0.006000	0.13384	0.019000	0.09904	0.885000	0.28227	0.274000	0.22072	0.109000	0.15622	ACC		PASS	0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		27	18	27	18	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072366	197072366	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:197072366C>A	ENST00000367409.4	-	18	6271	c.6015G>T	c.(6013-6015)agG>agT	p.R2005S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2005					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R2005S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TACTGTAAGCCCTATAATACT	0.328																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6013-6015)AGG>AGT		asp (abnormal spindle)-like, microcephaly							88.0	92.0	90.0					1																	197072366		2202	4299	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072366C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6015G>T	1.37:g.197072366C>A	ENSP00000356379:p.Arg2005Ser					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R2005S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6272	-			2005					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6015G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.305774	0.40795	.	.	ENSG00000066279	ENST00000367409	D	0.86956	-2.19	5.6	2.74	0.32292	.	0.128251	0.52532	D	0.000063	D	0.94571	0.8251	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93685	0.7002	10	0.56958	D	0.05	.	9.4616	0.38787	0.0:0.7004:0.0:0.2996	.	2005	Q8IZT6	ASPM_HUMAN	S	2005	ENSP00000356379:R2005S	ENSP00000356379:R2005S	R	-	3	2	ASPM	195338989	0.636000	0.27207	0.286000	0.24833	0.441000	0.31987	-0.141000	0.10327	0.743000	0.32719	0.645000	0.84053	AGG		PASS	0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		27	80	27	80	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204957875	204957875	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:204957875G>A	ENST00000401399.1	+	22	2907	c.2708G>A	c.(2707-2709)aGg>aAg	p.R903K	NFASC_ENST00000513543.1_Missense_Mutation_p.R1006K|NFASC_ENST00000404076.1_Missense_Mutation_p.R989K|NFASC_ENST00000339876.6_Missense_Mutation_p.R903K|NFASC_ENST00000338515.6_Missense_Mutation_p.R1010K|NFASC_ENST00000404907.1_Missense_Mutation_p.R1006K|NFASC_ENST00000367170.4_Missense_Mutation_p.R1010K|NFASC_ENST00000367169.4_Missense_Mutation_p.R903K|NFASC_ENST00000367171.4_Missense_Mutation_p.R995K|NFASC_ENST00000367172.4_Missense_Mutation_p.R1010K|NFASC_ENST00000338586.6_Missense_Mutation_p.R1010K|NFASC_ENST00000360049.4_Missense_Mutation_p.R1006K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Missense_Mutation_p.R1006K			O94856	NFASC_HUMAN	neurofascin	911	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.R903K(1)|p.R1006K(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)			CTCAGCGCCAGGACGCAGGTG	0.587																																						uc001hbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2707-2709)AGG>AAG		neurofascin isoform 1 precursor							84.0	80.0	81.0					1																	204957875		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.chr1:204957875G>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.2708G>A	1.37:g.204957875G>A	ENSP00000385637:p.Arg903Lys					NFASC_uc010pra.1_Missense_Mutation_p.R1006K|NFASC_uc001hbi.2_Missense_Mutation_p.R1006K|NFASC_uc010prb.1_Missense_Mutation_p.R1021K|NFASC_uc010prc.1_Missense_Mutation_p.R577K|NFASC_uc001hbk.1_Missense_Mutation_p.R816K|NFASC_uc001hbl.1_Missense_Mutation_p.R153K|NFASC_uc001hbm.1_Missense_Mutation_p.R49K|NFASC_uc001hbn.1_Missense_Mutation_p.R49K	p.R903K	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3036	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2708G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.410460|2.410460	0.42715|0.42715	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.58060	.|0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.57|5.57	4.65|4.65	0.58169|0.58169	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.115763	.|0.37483	.|N	.|0.002080	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.43554|0.43554	1.36|1.36	0.19575|0.19575	N|N	0.999968|0.999968	.|B;B;B;B;B;B;B;B;B	.|0.22414	.|0.069;0.002;0.012;0.02;0.002;0.002;0.056;0.024;0.01	.|B;B;B;B;B;B;B;B;B	.|0.26517	.|0.07;0.003;0.01;0.024;0.008;0.017;0.019;0.051;0.015	T|T	0.28839|0.28839	-1.0031|-1.0031	5|10	.|0.28530	.|T	.|0.3	.|.	13.5141|13.5141	0.61530|0.61530	0.0754:0.0:0.9246:0.0|0.0754:0.0:0.9246:0.0	.|.	.|1010;1021;1006;1010;1010;903;995;903;1006	.|O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.;.;.	R|K	873;135|1010;995;1010;1010;903;1010;1021;1006;1006;903;989;903;1006;1006;997	.|ENSP00000356140:R1010K;ENSP00000356139:R995K;ENSP00000356138:R1010K;ENSP00000342128:R1010K;ENSP00000344786:R903K;ENSP00000343509:R1010K;ENSP00000438614:R1006K;ENSP00000353154:R1006K;ENSP00000356137:R903K;ENSP00000385676:R989K;ENSP00000385637:R903K;ENSP00000384061:R1006K;ENSP00000425908:R1006K;ENSP00000415031:R997K	.|ENSP00000295776:R1021K	G|R	+|+	1|2	0|0	NFASC|NFASC	203224498|203224498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.940000|4.940000	0.63533|0.63533	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GGA|AGG		PASS	0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		50	39	50	39	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220213588	220213588	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:220213588C>A	ENST00000366923.3	-	2	339	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	24					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.V24L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCGTCTTTCACGTGTTCTACT	0.323																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(70-72)GTG>TTG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						95.0	103.0	100.0					1																	220213588		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220213588C>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.70G>T	1.37:g.220213588C>A	ENSP00000355890:p.Val24Leu					EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.V24L|EPRS_uc009xdt.1_5'UTR	p.V24L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	2	340	-			24					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.70G>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922422	0.33908	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06687	3.27	4.8	2.85	0.33270	.	0.122223	0.56097	D	0.000031	T	0.06781	0.0173	L	0.43152	1.355	0.54753	D	0.99998	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.30707	-0.9969	10	0.27785	T	0.31	-9.9439	5.6345	0.17528	0.1433:0.6425:0.1385:0.0757	.	24;24	Q3KQZ8;P07814	.;SYEP_HUMAN	L	24	ENSP00000355890:V24L	ENSP00000355890:V24L	V	-	1	0	EPRS	218280211	0.995000	0.38212	0.997000	0.53966	0.801000	0.45260	2.653000	0.46691	0.518000	0.28383	0.455000	0.32223	GTG		PASS	0.323	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		36	96	36	96	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233507832	233507832	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:233507832G>A	ENST00000366624.3	+	6	1862	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	MLK4_ENST00000366623.3_Missense_Mutation_p.R534Q	NM_032435.2	NP_115811.2												p.R534Q(1)									TTGGACAAACGGCGGAGCCTG	0.547																																						uc001hvt.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(1600-1602)CGG>CAG		mixed lineage kinase 4							92.0	90.0	91.0					1																	233507832		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233507832G>A																												ENST00000366624.3:c.1601G>A	1.37:g.233507832G>A	ENSP00000355583:p.Arg534Gln					KIAA1804_uc001hvs.1_Missense_Mutation_p.R534Q	p.R534Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			6	1862	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	534						Missense_Mutation	SNP	ENST00000366624.3	37	c.1601G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478502	0.96291	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.12984	2.63;2.63	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.39064	0.1064	M	0.75085	2.285	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70935	0.971;0.913	T	0.10706	-1.0618	10	0.51188	T	0.08	.	18.7231	0.91703	0.0:0.0:1.0:0.0	.	534;534	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	Q	534	ENSP00000355582:R534Q;ENSP00000355583:R534Q	ENSP00000355582:R534Q	R	+	2	0	RP5-862P8.2	231574455	1.000000	0.71417	0.944000	0.38274	0.844000	0.47949	9.636000	0.98440	2.654000	0.90174	0.650000	0.86243	CGG		PASS	0.547	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			37	39	37	39	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743230	234743230	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:234743230C>T	ENST00000366609.3	-	2	1447	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.E457K	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E473K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCCCCCACCTCTCTGGGGCCC	0.622																																						uc001hwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)GAG>AAG		interferon regulatory factor 2 binding protein 2							83.0	91.0	89.0					1																	234743230		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743230C>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1417G>A	1.37:g.234743230C>T	ENSP00000355568:p.Glu473Lys					IRF2BP2_uc009xfw.2_Missense_Mutation_p.E83K|IRF2BP2_uc001hwf.2_Missense_Mutation_p.E457K	p.E473K	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1448	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	473					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1417G>A	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352447	0.61293	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.30448	1.53;1.55	5.1	5.1	0.69264	.	0.200382	0.43919	D	0.000502	T	0.28962	0.0719	N	0.14661	0.345	0.58432	D	0.999998	P;D	0.55605	0.953;0.972	P;P	0.53912	0.551;0.737	T	0.02047	-1.1223	10	0.07644	T	0.81	-3.3623	18.703	0.91627	0.0:1.0:0.0:0.0	.	473;457	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	K	457;473	ENSP00000355569:E457K;ENSP00000355568:E473K	ENSP00000355568:E473K	E	-	1	0	IRF2BP2	232809853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.118000	0.77137	2.666000	0.90696	0.650000	0.86243	GAG		PASS	0.622	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		34	87	34	87	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769333	247769333	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:247769333G>T	ENST00000320002.2	+	1	478	c.446G>T	c.(445-447)tGg>tTg	p.W149L	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTATCTCCTGGCTCAGTGGT	0.493																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(445-447)TGG>TTG		olfactory receptor, family 2, subfamily G,							161.0	152.0	155.0					1																	247769333		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769333G>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.446G>T	1.37:g.247769333G>T	ENSP00000326301:p.Trp149Leu						p.W149L	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	446	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		149			Helical; Name=4; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.446G>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617683	0.28801	.	.	ENSG00000177476	ENST00000320002	T	0.58210	0.35	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35207	U	0.003373	T	0.72550	0.3474	M	0.86805	2.84	0.21553	N	0.999643	D	0.89917	1.0	D	0.97110	1.0	T	0.63928	-0.6526	10	0.87932	D	0	.	9.6144	0.39683	0.0:0.2143:0.7856:0.0	.	149	Q8NGZ4	OR2G3_HUMAN	L	149	ENSP00000326301:W149L	ENSP00000326301:W149L	W	+	2	0	OR2G3	245835956	0.281000	0.24258	0.955000	0.39395	0.010000	0.07245	0.784000	0.26816	2.120000	0.65058	0.492000	0.49549	TGG		PASS	0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			35	97	35	97	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737725	248737725	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:248737725G>A	ENST00000328782.2	-	1	355	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCCAGCCAGGGTCAGGTGG	0.557																																						uc001iep.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(334-336)CTG>TTG		olfactory receptor, family 2, subfamily T,							101.0	93.0	96.0					1																	248737725		2170	4273	6443	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737725G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.334C>T	1.37:g.248737725G>A							p.L112L	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	334	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		112			Helical; Name=3; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.334C>T	CCDS31120.1																																																																																				PASS	0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		21	58	21	58	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657410	40657410	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:40657410A>G	ENST00000403092.1	-	2	44	c.11T>C	c.(10-12)aTg>aCg	p.M4T	SLC8A1_ENST00000542024.1_Missense_Mutation_p.M4T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.M4T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.M4T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M4T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M4T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M4T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M4T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M4T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M4T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	4					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.M4T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATCGCCGCATGTTGTACAT	0.423																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(10-12)ATG>ACG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						61.0	57.0	58.0					2																	40657410		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657410A>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.11T>C	2.37:g.40657410A>G	ENSP00000384763:p.Met4Thr					SLC8A1_uc002rry.2_Missense_Mutation_p.M4T|SLC8A1_uc002rrz.2_Missense_Mutation_p.M4T|SLC8A1_uc002rsa.2_Missense_Mutation_p.M4T|SLC8A1_uc002rsd.3_Missense_Mutation_p.M4T|SLC8A1_uc002rsb.1_Missense_Mutation_p.M4T|SLC8A1_uc010fan.1_Missense_Mutation_p.M4T|SLC8A1_uc002rsc.1_Missense_Mutation_p.M4T	p.M4T	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	35	-			4					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.11T>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	6.821	0.520672	0.13005	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.73;1.73;1.73;1.69;1.69;1.73;1.7;1.69;1.69	5.93	5.93	0.95920	.	0.086699	0.85682	D	0.000000	T	0.47192	0.1432	M	0.75615	2.305	0.50039	D	0.999849	P;B;P;B;P	0.43662	0.814;0.087;0.814;0.001;0.717	P;B;P;B;P	0.55345	0.774;0.34;0.774;0.001;0.692	T	0.47005	-0.9150	10	0.87932	D	0	.	14.3276	0.66530	1.0:0.0:0.0:0.0	.	4;4;4;4;4	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	4	ENSP00000383886:M4T;ENSP00000440727:M4T;ENSP00000384763:M4T;ENSP00000385678:M4T;ENSP00000385188:M4T;ENSP00000385535:M4T;ENSP00000332931:M4T;ENSP00000384908:M4T;ENSP00000385811:M4T;ENSP00000443515:M4T	ENSP00000332931:M4T	M	-	2	0	SLC8A1	40510914	1.000000	0.71417	0.977000	0.42913	0.348000	0.29142	6.224000	0.72265	2.270000	0.75569	0.460000	0.39030	ATG		PASS	0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		8	41	8	41	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48848367	48848367	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:48848367A>G	ENST00000403751.3	+	3	222	c.185A>G	c.(184-186)cAa>cGa	p.Q62R	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q766R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q766R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q766R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q766R|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.Q28R|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q766R	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	62					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q766R(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATAGCATCCAATCACCTCTG	0.383																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2296-2298)CAA>CGA		stonin 1							84.0	86.0	85.0					2																	48848367		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848367A>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.185A>G	2.37:g.48848367A>G	ENSP00000384597:p.Gln62Arg					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q766R|GTF2A1L_uc002rws.1_Missense_Mutation_p.Q62R|GTF2A1L_uc010yom.1_Missense_Mutation_p.Q28R|GTF2A1L_uc002rwt.2_Missense_Mutation_p.Q62R	p.Q766R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2344	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	766					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2297A>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	A	0.096	-1.159528	0.01686	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.55	1.98	0.26296	.	0.393060	0.25668	N	0.029086	T	0.33904	0.0879	L	0.61218	1.895	0.09310	N	1	B;B;B;B;B	0.29301	0.241;0.0;0.0;0.183;0.0	B;B;B;B;B	0.25614	0.037;0.0;0.002;0.062;0.001	T	0.14008	-1.0488	10	0.09338	T	0.73	.	4.6565	0.12620	0.587:0.1587:0.2544:0.0	.	28;766;766;62;766	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	R	766;766;766;766;766;61;28;62;28;62	ENSP00000385499:Q766R;ENSP00000385701:Q766R;ENSP00000378236:Q766R;ENSP00000311493:Q766R;ENSP00000378234:Q766R;ENSP00000412645:Q28R;ENSP00000396702:Q62R;ENSP00000387896:Q28R;ENSP00000384597:Q62R	ENSP00000384597:Q62R	Q	+	2	0	STON1-GTF2A1L;GTF2A1L	48701871	0.000000	0.05858	0.016000	0.15963	0.172000	0.22775	-0.115000	0.10741	0.883000	0.36040	0.379000	0.24179	CAA		PASS	0.383	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		38	23	38	23	---	---	---	---
ANKRD53	79998	broad.mit.edu	37	2	71209097	71209097	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:71209097C>A	ENST00000360589.3	+	4	683	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.L183M|ANKRD53_ENST00000272421.6_Missense_Mutation_p.L217M|ANKRD53_ENST00000441349.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	217								p.L217M(2)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCCTGCACCTGGCAGCCCG	0.577																																						uc002shl.3																			2	Substitution - Missense(2)		lung(2)		0						c.(649-651)CTG>ATG		ankyrin repeat domain 53 isoform a							62.0	60.0	60.0					2																	71209097		2203	4300	6503	SO:0001583	missense	79998							g.chr2:71209097C>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.649C>A	2.37:g.71209097C>A	ENSP00000353796:p.Leu217Met					ANKRD53_uc002shk.3_Missense_Mutation_p.L217M|ANKRD53_uc002shm.3_Intron	p.L217M	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN			4	850	+			217			ANK 3.		Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.649C>A	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374433	0.42105	.	.	ENSG00000144031	ENST00000272421;ENST00000457410;ENST00000360589	T;T;T	0.67698	-0.28;-0.28;-0.28	5.47	2.36	0.29203	Ankyrin repeat-containing domain (4);	0.130255	0.29515	N	0.011923	T	0.69033	0.3066	L	0.49256	1.55	0.30676	N	0.752896	D;D	0.56521	0.962;0.976	P;P	0.54060	0.611;0.741	T	0.70498	-0.4855	10	0.45353	T	0.12	-13.8656	12.9037	0.58139	0.444:0.556:0.0:0.0	.	217;217	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	M	217;183;217	ENSP00000272421:L217M;ENSP00000407004:L183M;ENSP00000353796:L217M	ENSP00000272421:L217M	L	+	1	2	ANKRD53	71062605	0.745000	0.28261	1.000000	0.80357	0.872000	0.50106	-0.284000	0.08422	0.720000	0.32209	0.561000	0.74099	CTG		PASS	0.577	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		10	74	10	74	---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72359496	72359496	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:72359496C>A	ENST00000001146.2	-	6	1602	c.1399G>T	c.(1399-1401)Gcc>Tcc	p.A467S	CYP26B1_ENST00000412253.1_Missense_Mutation_p.A276S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.A392S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	467					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.A467S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGTGTGGCCAGCTCAAAG	0.642																																						uc002sih.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1399-1401)GCC>TCC		cytochrome P450, family 26, subfamily b,							48.0	42.0	44.0					2																	72359496		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359496C>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1399G>T	2.37:g.72359496C>A	ENSP00000001146:p.Ala467Ser					CYP26B1_uc010yra.1_Missense_Mutation_p.A450S|CYP26B1_uc010yrb.1_Missense_Mutation_p.A392S	p.A467S	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			6	1399	-			467					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1399G>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279483	0.80692	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69685	-0.42;-0.32;-0.32	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	L	0.39467	1.215	0.58432	D	0.999997	B;B;B	0.27498	0.108;0.089;0.18	B;B;B	0.38921	0.221;0.285;0.178	T	0.61845	-0.6979	10	0.37606	T	0.19	-24.6521	18.6588	0.91465	0.0:1.0:0.0:0.0	.	392;450;467	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	S	467;276;392	ENSP00000001146:A467S;ENSP00000401465:A276S;ENSP00000443304:A392S	ENSP00000001146:A467S	A	-	1	0	CYP26B1	72213004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.837000	0.97791	0.655000	0.94253	GCC		PASS	0.642	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		8	28	8	28	---	---	---	---
POU3F3	5455	broad.mit.edu	37	2	105473369	105473369	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:105473369C>A	ENST00000361360.2	+	1	1401	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	467					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P467P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGACGCCGCCCGGGATCCAAC	0.662																																						uc010ywg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1399-1401)CCC>CCA		POU class 3 homeobox 3							29.0	34.0	32.0					2																	105473369		2203	4300	6503	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473369C>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1401C>A	2.37:g.105473369C>A							p.P467P	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	1401	+			467					P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.1401C>A	CCDS33265.1																																																																																				PASS	0.662	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			38	15	38	15	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118764334	118764334	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:118764334A>G	ENST00000376300.2	-	3	352	c.215T>C	c.(214-216)tTg>tCg	p.L72S	CCDC93_ENST00000319432.5_Missense_Mutation_p.L72S|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	72								p.L72S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTGAAAGAGCAAATCAACATC	0.348																																						uc002tlj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(214-216)TTG>TCG		coiled-coil domain containing 93							96.0	92.0	93.0					2																	118764334		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118764334A>G	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.215T>C	2.37:g.118764334A>G	ENSP00000365477:p.Leu72Ser					CCDC93_uc010fld.1_Missense_Mutation_p.L72S	p.L72S	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			3	341	-			72					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.215T>C	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309600	0.81247	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.52057	0.68;0.68	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000002	T	0.71813	0.3384	M	0.88775	2.98	0.53688	D	0.999973	D	0.76494	0.999	D	0.71656	0.974	T	0.78391	-0.2222	10	0.87932	D	0	-7.4214	13.5984	0.62004	1.0:0.0:0.0:0.0	.	72	Q567U6	CCD93_HUMAN	S	72	ENSP00000365477:L72S;ENSP00000324135:L72S	ENSP00000324135:L72S	L	-	2	0	CCDC93	118480804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.567000	0.90737	2.043000	0.60533	0.533000	0.62120	TTG		PASS	0.348	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		12	47	12	47	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152322531	152322531	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:152322531A>G	ENST00000243326.5	+	29	6980	c.6497A>G	c.(6496-6498)cAg>cGg	p.Q2166R	RIF1_ENST00000453091.2_Missense_Mutation_p.Q2166R|RIF1_ENST00000430328.2_Missense_Mutation_p.Q2166R|RIF1_ENST00000444746.2_Missense_Mutation_p.Q2166R|RIF1_ENST00000428287.2_Missense_Mutation_p.Q2166R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.Q2166R(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTGGCATGCAGACACGCTGT	0.413																																						uc002txm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(6496-6498)CAG>CGG		RAP1 interacting factor 1							88.0	83.0	85.0					2																	152322531		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322531A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6497A>G	2.37:g.152322531A>G	ENSP00000243326:p.Gln2166Arg					RIF1_uc002txl.2_Missense_Mutation_p.Q2166R|RIF1_uc002txn.2_Missense_Mutation_p.Q2166R|RIF1_uc002txo.2_Missense_Mutation_p.Q2166R|RIF1_uc002txp.2_RNA	p.Q2166R	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	6627	+			2166			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6497A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.526992	0.64860	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.9	5.9	0.94986	.	0.640842	0.16477	N	0.212682	T	0.09642	0.0237	L	0.32530	0.975	0.80722	D	1	B;B	0.24963	0.084;0.115	B;B	0.20577	0.029;0.03	T	0.23976	-1.0173	10	0.14252	T	0.57	-1.9418	14.562	0.68148	1.0:0.0:0.0:0.0	.	2166;2166	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	2166	ENSP00000390181:Q2166R;ENSP00000414615:Q2166R;ENSP00000415691:Q2166R;ENSP00000243326:Q2166R;ENSP00000416123:Q2166R	ENSP00000243326:Q2166R	Q	+	2	0	RIF1	152030777	0.391000	0.25221	1.000000	0.80357	0.998000	0.95712	3.402000	0.52608	2.251000	0.74343	0.528000	0.53228	CAG		PASS	0.413	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			21	56	21	56	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155099239	155099239	+	Silent	SNP	C	C	T	rs187976407		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:155099239C>T	ENST00000392825.3	+	6	1074	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_ENST00000409237.1_Silent_p.Y169Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	169	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y169Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16929	0.0		0.0	False		,,,				2504	0.0					uc002tyr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(505-507)TAC>TAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		C		0,4406		0,0,2203	32.0	35.0	34.0		507	0.0	1.0	2		34	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GALNT13	NM_052917.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		169/557	155099239	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099239C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.507C>T	2.37:g.155099239C>T						GALNT13_uc002tyt.3_Silent_p.Y169Y|GALNT13_uc010foc.1_Translation_Start_Site	p.Y169Y	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1074	+			169			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.507C>T	CCDS2199.1																																																																																				PASS	0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		13	39	13	39	---	---	---	---
HOXD12	3238	broad.mit.edu	37	2	176964967	176964967	+	Silent	SNP	G	G	T	rs375386525	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:176964967G>T	ENST00000406506.2	+	1	510	c.438G>T	c.(436-438)acG>acT	p.T146T	HOXD12_ENST00000404162.2_Silent_p.T146T			P35452	HXD12_HUMAN	homeobox D12	146					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.T146T(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTCGTGCCACGCCGGGCTCCA	0.672																																						uc010zev.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(436-438)ACG>ACT		homeobox D12							20.0	23.0	22.0					2																	176964967		1938	4129	6067	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964967G>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.438G>T	2.37:g.176964967G>T						HOXD12_uc010zew.1_Silent_p.T146T	p.T146T	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	438	+			146					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.438G>T	CCDS46456.1																																																																																				PASS	0.672	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		43	19	43	19	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179365898	179365898	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:179365898C>G	ENST00000234453.5	+	7	1172	c.770C>G	c.(769-771)cCa>cGa	p.P257R		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	257						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.P257R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CTTGAAGACCCAGATAGTAAG	0.403																																						uc002umn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(769-771)CCA>CGA		pleckstrin homology domain containing, family A							74.0	76.0	75.0					2																	179365898		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179365898C>G	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.770C>G	2.37:g.179365898C>G	ENSP00000234453:p.Pro257Arg						p.P257R	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		7	1168	+			257					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.770C>G	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728421	0.69074	.	.	ENSG00000116095	ENST00000234453;ENST00000421187	T	0.11495	2.77	5.77	5.77	0.91146	.	0.581540	0.19451	N	0.113938	T	0.07683	0.0193	N	0.14661	0.345	0.28531	N	0.912569	B	0.14438	0.01	B	0.20384	0.029	T	0.22138	-1.0225	10	0.25106	T	0.35	-1.1276	13.2136	0.59839	0.0:0.9274:0.0:0.0726	.	257	Q9HB20	PKHA3_HUMAN	R	257;66	ENSP00000234453:P257R	ENSP00000234453:P257R	P	+	2	0	PLEKHA3	179074144	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	3.343000	0.52167	2.720000	0.93068	0.650000	0.86243	CCA		PASS	0.403	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		20	77	20	77	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179471836	179471836	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:179471836T>A	ENST00000591111.1	-	228	48794	c.48570A>T	c.(48568-48570)caA>caT	p.Q16190H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q8958H|TTN_ENST00000342992.6_Missense_Mutation_p.Q15263H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q17831H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q8891H|TTN_ENST00000460472.2_Missense_Mutation_p.Q8766H			Q8WZ42	TITIN_HUMAN	titin	16190	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q15263H(2)|p.Q8766H(1)|p.Q8958H(1)|p.Q8891H(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)			ACTTATATTCTTGTCCCTCAA	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45787-45789)CAA>CAT		titin isoform N2-A							215.0	207.0	210.0					2																	179471836		1894	4121	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471836T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48570A>T	2.37:g.179471836T>A	ENSP00000465570:p.Gln16190His					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8958H|TTN_uc010zfi.1_Missense_Mutation_p.Q8891H|TTN_uc010zfj.1_Missense_Mutation_p.Q8766H	p.Q15263H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		227	46013	-			16190					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.45789A>T		.	.	.	.	.	.	.	.	.	.	T	9.466	1.094343	0.20471	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.35	3.02	0.34903	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44201	0.1282	L	0.27944	0.81	0.40329	D	0.978904	P;P;P;P	0.46512	0.879;0.879;0.879;0.667	P;P;P;P	0.47786	0.557;0.557;0.557;0.557	T	0.44174	-0.9345	9	0.87932	D	0	.	8.1711	0.31256	0.0:0.2339:0.0:0.7661	.	8766;8891;8958;16190	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15263;8766;8958;8891;8766	ENSP00000343764:Q15263H;ENSP00000434586:Q8766H;ENSP00000340554:Q8958H;ENSP00000352154:Q8891H	ENSP00000340554:Q8958H	Q	-	3	2	TTN	179180081	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	0.214000	0.17541	0.890000	0.36211	0.459000	0.35465	CAA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	191	53	191	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211471548	211471548	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:211471548G>A	ENST00000233072.5	+	18	2271	c.2075G>A	c.(2074-2076)gGc>gAc	p.G692D	CPS1_ENST00000430249.2_Missense_Mutation_p.G698D|CPS1_ENST00000451903.2_Missense_Mutation_p.G241D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	692	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.G698D(1)|p.G692D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGCCACTTGGGCATTGTGGGT	0.473																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2074-2076)GGC>GAC		carbamoyl-phosphate synthetase 1 isoform b							166.0	142.0	151.0					2																	211471548		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471548G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2075G>A	2.37:g.211471548G>A	ENSP00000233072:p.Gly692Asp					CPS1_uc010fur.2_Missense_Mutation_p.G698D|CPS1_uc010fus.2_Missense_Mutation_p.G241D	p.G692D	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2207	+			692			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2075G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503202	0.64298	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97404	-4.37;-4.37;-4.37	5.83	5.83	0.93111	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.048799	0.85682	D	0.000000	D	0.96812	0.8959	M	0.77486	2.375	0.49687	D	0.999818	P;P	0.35628	0.513;0.513	B;B	0.41466	0.358;0.358	D	0.96304	0.9223	10	0.72032	D	0.01	-15.1628	12.9431	0.58357	0.1146:0.0:0.8854:0.0	.	702;692	Q59HF8;P31327	.;CPSM_HUMAN	D	698;700;692;241	ENSP00000402608:G698D;ENSP00000233072:G692D;ENSP00000406136:G241D	ENSP00000233072:G692D	G	+	2	0	CPS1	211179793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.322000	0.72886	2.781000	0.95711	0.586000	0.80456	GGC		PASS	0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			62	40	62	40	---	---	---	---
MARCH4	57574	broad.mit.edu	37	2	217142400	217142400	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:217142400C>A	ENST00000273067.4	-	3	2626	c.860G>T	c.(859-861)tGc>tTc	p.C287F		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	287						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C287F(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCCACCTATGCACACCACGTC	0.577																																						uc002vgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(859-861)TGC>TTC		membrane-associated ring finger (C3HC4) 4							197.0	171.0	180.0					2																	217142400		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217142400C>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.860G>T	2.37:g.217142400C>A	ENSP00000273067:p.Cys287Phe						p.C287F	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	3	2627	-		Renal(323;0.0854)	287			Helical; (Potential).		Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.860G>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875408	0.91664	.	.	ENSG00000144583	ENST00000273067	T	0.59224	0.28	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76753	-0.2843	10	0.52906	T	0.07	-5.8988	18.1705	0.89744	0.0:1.0:0.0:0.0	.	287	Q9P2E8	MARH4_HUMAN	F	287	ENSP00000273067:C287F	ENSP00000273067:C287F	C	-	2	0	MARCH4	216850645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.543000	0.85770	0.655000	0.94253	TGC		PASS	0.577	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		25	55	25	55	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220329246	220329246	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:220329246G>A	ENST00000312358.7	+	9	2929	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	SPEG_ENST00000396688.1_Missense_Mutation_p.E84K|SPEG_ENST00000396686.1_Missense_Mutation_p.E84K|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396689.2_Missense_Mutation_p.E84K|SPEG_ENST00000396698.1_Missense_Mutation_p.E829K|SPEG_ENST00000396695.2_Missense_Mutation_p.E141K	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	933	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E933K(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTGGCTGCAGAGCGTGGCGA	0.637																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2797-2799)GAG>AAG		SPEG complex locus							69.0	81.0	77.0					2																	220329246		2171	4279	6450	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329246G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2797G>A	2.37:g.220329246G>A	ENSP00000311684:p.Glu933Lys					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.E141K|SPEG_uc002vln.1_Missense_Mutation_p.E141K|SPEG_uc002vlp.1_Missense_Mutation_p.E141K|SPEG_uc002vlq.2_Missense_Mutation_p.E84K	p.E933K	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	9	2797	+		Renal(207;0.0183)	933			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2797G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160052	0.38119	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000728	T	0.66616	0.2807	N	0.11560	0.145	0.09310	N	0.999995	P;P;D	0.71674	0.921;0.949;0.998	P;B;D	0.65684	0.542;0.406;0.937	T	0.64437	-0.6408	10	0.54805	T	0.06	.	16.7035	0.85365	0.0:0.0:1.0:0.0	.	933;141;829	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	K	933;933;829;141;84;84;84	ENSP00000311684:E933K;ENSP00000379926:E829K;ENSP00000379923:E141K;ENSP00000379919:E84K;ENSP00000379917:E84K;ENSP00000379920:E84K	ENSP00000265327:E933K	E	+	1	0	SPEG	220037490	1.000000	0.71417	0.116000	0.21606	0.013000	0.08279	3.231000	0.51294	2.484000	0.83849	0.561000	0.74099	GAG		PASS	0.637	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		27	20	27	20	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223085987	223085987	+	Silent	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:223085987C>G	ENST00000350526.4	-	6	1048	c.912G>C	c.(910-912)acG>acC	p.T304T	PAX3_ENST00000409551.3_Silent_p.T303T|PAX3_ENST00000344493.4_Silent_p.T304T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.T304T|PAX3_ENST00000392069.2_Silent_p.T304T|PAX3_ENST00000336840.6_Silent_p.T304T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	304					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T304T(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCTGGTACGTTGGCAAGG	0.537			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(910-912)ACG>ACC		paired box 3 isoform PAX3							205.0	211.0	209.0					2																	223085987		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085987C>G		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.912G>C	2.37:g.223085987C>G						PAX3_uc002vmt.1_Silent_p.T304T|PAX3_uc002vmy.1_Silent_p.T303T|PAX3_uc002vmv.1_Silent_p.T304T|PAX3_uc002vmw.1_Silent_p.T304T|PAX3_uc002vmx.1_Silent_p.T304T	p.T304T	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1278	-		Renal(207;0.0183)	304					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.912G>C	CCDS42826.1																																																																																				PASS	0.537	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			232	87	232	87	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225740851	225740851	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:225740851C>T	ENST00000258390.7	-	8	902	c.835G>A	c.(835-837)Gat>Aat	p.D279N	DOCK10_ENST00000409592.3_Missense_Mutation_p.D273N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	279	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D279N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCCATTCATCCATATCTGAC	0.458																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(835-837)GAT>AAT		dedicator of cytokinesis 10							81.0	79.0	80.0					2																	225740851		1893	4131	6024	SO:0001583	missense	55619						GTP binding	g.chr2:225740851C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.835G>A	2.37:g.225740851C>T	ENSP00000258390:p.Asp279Asn					DOCK10_uc002vob.2_Missense_Mutation_p.D273N|DOCK10_uc002vod.1_Missense_Mutation_p.D279N	p.D279N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	8	1074	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	279			PH.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.835G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017750	0.93404	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.74106	-0.81;-0.81	5.86	5.86	0.93980	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.094831	0.64402	D	0.000001	T	0.77412	0.4126	N	0.13299	0.325	0.58432	D	0.999994	D;D;D	0.76494	0.992;0.999;0.985	D;D;D	0.68353	0.931;0.957;0.931	T	0.79288	-0.1865	10	0.49607	T	0.09	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	279;279;273	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	N	273;279	ENSP00000386694:D273N;ENSP00000258390:D279N	ENSP00000258390:D279N	D	-	1	0	DOCK10	225449095	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.778000	0.95560	0.655000	0.94253	GAT		PASS	0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			17	55	17	55	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234104059	234104059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:234104059G>T	ENST00000359570.5	+	26	2575	c.2575G>T	c.(2575-2577)Gag>Tag	p.E859*	INPP5D_ENST00000450745.1_Nonsense_Mutation_p.E623*|INPP5D_ENST00000455936.2_Nonsense_Mutation_p.E623*			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	871					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E871*(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGTGAAGACGGAGCGTGATGA	0.567																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2611-2613)GAG>TAG		SH2 containing inositol phosphatase isoform a							79.0	80.0	79.0					2																	234104059		1955	4152	6107	SO:0001587	stop_gained	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234104059G>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2575G>T	2.37:g.234104059G>T	ENSP00000352575:p.Glu859*					INPP5D_uc010zmp.1_Nonsense_Mutation_p.E870*	p.E871*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	23	2764	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	871					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Nonsense_Mutation	SNP	ENST00000359570.5	37	c.2611G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.392069	0.97529	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.3385	0.83074	0.0:0.0:1.0:0.0	.	.	.	.	X	859;623;623;492;492;492	.	ENSP00000352575:E859X	E	+	1	0	INPP5D	233768798	1.000000	0.71417	0.960000	0.40013	0.147000	0.21601	5.705000	0.68355	2.625000	0.88918	0.655000	0.94253	GAG		PASS	0.567	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		54	27	54	27	---	---	---	---
SLC22A13	9390	broad.mit.edu	37	3	38307617	38307617	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:38307617C>T	ENST00000311856.4	+	1	315	c.266C>T	c.(265-267)cCc>cTc	p.P89L	SLC22A13_ENST00000450935.2_Missense_Mutation_p.P48L	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	89					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.P89L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TTCCGGCCACCCCCCGCCAAT	0.592																																						uc003chz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(265-267)CCC>CTC		solute carrier family 22 (organic anion							49.0	46.0	47.0					3																	38307617		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307617C>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.266C>T	3.37:g.38307617C>T	ENSP00000310241:p.Pro89Leu					SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.P89L	p.P89L	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	320	+			89			Extracellular (Potential).		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.266C>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.422278	0.25639	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.65178	-0.14;0.6	4.57	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.252494	0.37761	N	0.001941	T	0.60051	0.2239	M	0.66939	2.045	0.40585	D	0.981434	B;B	0.23377	0.084;0.017	B;B	0.26094	0.066;0.016	T	0.63576	-0.6606	10	0.45353	T	0.12	.	12.7676	0.57401	0.1644:0.8356:0.0:0.0	.	89;89	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	L	89;48	ENSP00000310241:P89L;ENSP00000406929:P48L	ENSP00000310241:P89L	P	+	2	0	SLC22A13	38282621	0.096000	0.21769	0.803000	0.32268	0.128000	0.20619	1.858000	0.39408	2.271000	0.75665	0.563000	0.77884	CCC		PASS	0.592	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		18	5	18	5	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47144879	47144879	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:47144879C>T	ENST00000409792.3	-	7	4916	c.4874G>A	c.(4873-4875)cGt>cAt	p.R1625H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1122H(1)|p.R1625H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTCATGAAACGAGAGCAATT	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4873-4875)CGT>CAT		SET domain containing 2							167.0	155.0	159.0					3																	47144879		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144879C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4874G>A	3.37:g.47144879C>T	ENSP00000386759:p.Arg1625His					SETD2_uc003cqv.2_Missense_Mutation_p.R1692H	p.R1625H	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4927	-		Acute lymphoblastic leukemia(5;0.0169)	1625	R->H: Loss of methyltransferase activity.		SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4874G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	33	5.288562	0.95517	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.85955	-2.05	5.83	5.83	0.93111	SET domain (3);	0.000000	0.53938	D	0.000046	D	0.93779	0.8011	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94322	0.7554	10	0.87932	D	0	.	18.2989	0.90157	0.0:1.0:0.0:0.0	.	1625;1625	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1625	ENSP00000386759:R1625H	ENSP00000386759:R1625H	R	-	2	0	SETD2	47119883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.429000	0.80309	2.775000	0.95449	0.650000	0.86243	CGT		PASS	0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		66	15	66	15	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52407054	52407054	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:52407054G>A	ENST00000420323.2	+	44	7231	c.6970G>A	c.(6970-6972)Gac>Aac	p.D2324N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2324	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2324N(3)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGCTGGTACGACCGCAAGAT	0.622																																						uc011bef.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	large_intestine(3)	3						c.(6970-6972)GAC>AAC		dynein, axonemal, heavy chain 1							37.0	42.0	40.0					3																	52407054		2069	4198	6267	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52407054G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6970G>A	3.37:g.52407054G>A	ENSP00000401514:p.Asp2324Asn						p.D2324N	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7231	+			2324			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6970G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322378	0.95708	.	.	ENSG00000114841	ENST00000420323	T	0.51071	0.72	4.5	4.5	0.54988	.	0.120071	0.36932	N	0.002337	T	0.65450	0.2692	M	0.78916	2.43	0.80722	D	1	D	0.65815	0.995	P	0.58077	0.832	T	0.68292	-0.5447	10	0.44086	T	0.13	.	17.7428	0.88411	0.0:0.0:1.0:0.0	.	2324	C9JXH6	.	N	2324	ENSP00000401514:D2324N	ENSP00000401514:D2324N	D	+	1	0	DNAH1	52382094	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.383000	0.97214	2.501000	0.84356	0.655000	0.94253	GAC		PASS	0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		18	15	18	15	---	---	---	---
CADM2	253559	broad.mit.edu	37	3	86028400	86028400	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:86028400C>A	ENST00000407528.2	+	8	1092	c.1030C>A	c.(1030-1032)Cca>Aca	p.P344T	CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Missense_Mutation_p.P346T	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	344	Thr-rich.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P346T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AACAACCAGCCCAACCACATC	0.453																																						uc003dqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1030-1032)CCA>ACA		immunoglobulin superfamily, member 4D							265.0	243.0	250.0					3																	86028400		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86028400C>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1030C>A	3.37:g.86028400C>A	ENSP00000384575:p.Pro344Thr					CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Missense_Mutation_p.P346T	p.P344T	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1656	+		Lung NSC(201;0.0148)	344			Thr-rich.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1030C>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792240	0.16258	.	.	ENSG00000175161	ENST00000407528;ENST00000405615	T;T	0.66995	-0.24;-0.24	5.19	1.93	0.25924	.	0.319247	0.32608	N	0.005866	T	0.45094	0.1325	N	0.19112	0.55	0.27740	N	0.944517	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.21540	T	0.41	.	8.13	0.31022	0.5785:0.3117:0.1098:0.0	.	346;344	Q8N3J6-3;Q8N3J6	.;CADM2_HUMAN	T	344;346	ENSP00000384575:P344T;ENSP00000384193:P346T	ENSP00000384193:P346T	P	+	1	0	CADM2	86111090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	0.522000	0.28464	0.585000	0.79938	CCA		PASS	0.453	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		167	25	167	25	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002676	98002676	+	Splice_Site	SNP	G	G	C	rs374320933		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:98002676G>C	ENST00000355273.2	+	1	945	c.945G>C	c.(943-945)taG>taC	p.*315Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*315Y(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATGTTTAGATTTCATAGT	0.254																																						uc003dsj.1																			1	Nonstop extension(1)		lung(1)	ovary(3)	3						c.(943-945)TAG>TAC		olfactory receptor, family 5, subfamily H,							17.0	18.0	18.0					3																	98002676		2113	4223	6336	SO:0001630	splice_region_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002676G>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.942+1G>C	3.37:g.98002676G>C							p.*315Y	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	945	+			315					Q6IF87	Nonstop_Mutation	SNP	ENST00000355273.2	37	c.945G>C	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164425	0.38217	.	.	ENSG00000197938	ENST00000355273	.	.	.	3.13	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	0.17877	0.1268:0.2075:0.6657:0.0	.	.	.	.	Y	315	.	.	X	+	3	2	OR5H2	99485366	0.018000	0.18449	0.012000	0.15200	0.410000	0.31052	1.295000	0.33377	0.612000	0.30071	0.411000	0.27672	TAG		PASS	0.254	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		Nonstop_Mutation	9	16	9	16	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251616	98251616	+	Missense_Mutation	SNP	G	G	A	rs573374737		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:98251616G>A	ENST00000284311.3	+	1	874	c.739G>A	c.(739-741)Gtg>Atg	p.V247M		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	247					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.V247M(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTTTATTGTCGTGGCAGCCTT	0.448																																						uc011bgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)GTG>ATG		G protein-coupled receptor 15							73.0	74.0	74.0					3																	98251616		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251616G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.739G>A	3.37:g.98251616G>A	ENSP00000284311:p.Val247Met						p.V247M	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	739	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	247			Helical; Name=6; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.739G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716170	0.48622	.	.	ENSG00000154165	ENST00000284311	T	0.74315	-0.83	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000304	D	0.86678	0.5990	M	0.83012	2.62	0.35815	D	0.824133	D	0.89917	1.0	D	0.81914	0.995	D	0.90488	0.4465	10	0.59425	D	0.04	-14.9788	16.025	0.80536	0.0:0.0:1.0:0.0	.	247	P49685	GPR15_HUMAN	M	247	ENSP00000284311:V247M	ENSP00000284311:V247M	V	+	1	0	GPR15	99734306	1.000000	0.71417	0.963000	0.40424	0.848000	0.48234	3.397000	0.52572	2.729000	0.93468	0.655000	0.94253	GTG		PASS	0.448	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			19	76	19	76	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108818237	108818237	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:108818237G>C	ENST00000483760.1	-	6	434	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.Q131E					MORC family CW-type zinc finger 1									p.Q131E(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGAATGTCTGAGAAAAAAAC	0.358																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(391-393)CAG>GAG		MORC family CW-type zinc finger 1							116.0	116.0	116.0					3																	108818237		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818237G>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.391C>G	3.37:g.108818237G>C	ENSP00000417282:p.Gln131Glu					MORC1_uc011bhn.1_Missense_Mutation_p.Q131E	p.Q131E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			6	478	-			131						Missense_Mutation	SNP	ENST00000483760.1	37	c.391C>G		.	.	.	.	.	.	.	.	.	.	G	16.65	3.182345	0.57800	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.94828	-3.53;-3.53	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (2);	0.000000	0.46442	D	0.000284	D	0.96414	0.8830	L	0.61218	1.895	0.35299	D	0.782896	D;P	0.76494	0.999;0.953	D;P	0.83275	0.996;0.841	D	0.98442	1.0587	10	0.51188	T	0.08	-12.8035	15.6854	0.77405	0.0:0.0:1.0:0.0	.	131;131	E7ERX1;Q86VD1	.;MORC1_HUMAN	E	131	ENSP00000232603:Q131E;ENSP00000417282:Q131E	ENSP00000232603:Q131E	Q	-	1	0	MORC1	110300927	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.241000	0.72369	2.643000	0.89663	0.555000	0.69702	CAG		PASS	0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			22	83	22	83	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170802084	170802084	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:170802084T>C	ENST00000436636.2	-	26	3373	c.3029A>G	c.(3028-3030)gAa>gGa	p.E1010G	TNIK_ENST00000357327.5_Missense_Mutation_p.E981G|TNIK_ENST00000369326.5_Missense_Mutation_p.E988G|TNIK_ENST00000284483.8_Missense_Mutation_p.E1002G|TNIK_ENST00000475336.1_Missense_Mutation_p.E918G|TNIK_ENST00000538048.1_Missense_Mutation_p.E962G|TNIK_ENST00000460047.1_Missense_Mutation_p.E947G|TNIK_ENST00000470834.1_Missense_Mutation_p.E973G|TNIK_ENST00000341852.6_Missense_Mutation_p.E926G|TNIK_ENST00000488470.1_Missense_Mutation_p.E955G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1010	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E1010G(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGGCCTGTTCTTGCCTAAG	0.398																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(3028-3030)GAA>GGA		TRAF2 and NCK interacting kinase isoform 1							145.0	140.0	142.0					3																	170802084		1852	4105	5957	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802084T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3029A>G	3.37:g.170802084T>C	ENSP00000399511:p.Glu1010Gly					TNIK_uc003fhi.2_Missense_Mutation_p.E955G|TNIK_uc003fhj.2_Missense_Mutation_p.E981G|TNIK_uc003fhk.2_Missense_Mutation_p.E1002G|TNIK_uc003fhl.2_Missense_Mutation_p.E926G|TNIK_uc003fhm.2_Missense_Mutation_p.E947G|TNIK_uc003fhn.2_Missense_Mutation_p.E973G|TNIK_uc003fho.2_Missense_Mutation_p.E918G|TNIK_uc003fhg.2_Missense_Mutation_p.E188G|TNIK_uc003fhp.2_5'Flank	p.E1010G	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3374	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1010			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3029A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305407	0.81247	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.78481	-1.15;-1.16;-1.17;-1.16;-1.15;-1.16;-1.17;-1.18;-1.17;-1.17	5.95	5.95	0.96441	.	0.047598	0.85682	D	0.000000	D	0.88115	0.6350	M	0.80616	2.505	0.80722	D	1	P;D;P;P;D;D;P;D	0.71674	0.59;0.963;0.59;0.59;0.998;0.963;0.59;0.972	B;P;B;B;D;P;B;P	0.70487	0.168;0.839;0.168;0.168;0.969;0.839;0.168;0.76	D	0.88204	0.2886	10	0.45353	T	0.12	.	16.4059	0.83670	0.0:0.0:0.0:1.0	.	918;973;947;926;1002;981;955;1010	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	G	1010;988;962;926;1002;918;981;947;955;973	ENSP00000399511:E1010G;ENSP00000358332:E988G;ENSP00000443278:E962G;ENSP00000345352:E926G;ENSP00000284483:E1002G;ENSP00000418156:E918G;ENSP00000349880:E981G;ENSP00000418916:E947G;ENSP00000418378:E955G;ENSP00000419990:E973G	ENSP00000284483:E1002G	E	-	2	0	TNIK	172284778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.632000	0.83247	2.266000	0.75297	0.528000	0.53228	GAA		PASS	0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		125	100	125	100	---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183209889	183209889	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:183209889G>A	ENST00000341319.3	-	7	1727	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	564					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.G564G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTCCCGCCCGCCGGTGATGT	0.677																																						uc003flr.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1690-1692)GGC>GGT		kelch-like 6							72.0	71.0	71.0					3																	183209889		2202	4300	6502	SO:0001819	synonymous_variant	89857							g.chr3:183209889G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1692C>T	3.37:g.183209889G>A						KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.G564G	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1750	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		564			Kelch 6.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1692C>T	CCDS3245.2																																																																																				PASS	0.677	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		24	166	24	166	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184100816	184100816	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:184100816G>T	ENST00000204604.1	+	10	1324	c.1078G>T	c.(1078-1080)Gct>Tct	p.A360S	CHRD_ENST00000348986.3_Missense_Mutation_p.A360S|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.A360S|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	360	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.A360S(1)|p.A73S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGGCTTTGCTGAGGTGCT	0.637																																						uc003fov.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1078-1080)GCT>TCT		chordin precursor							31.0	31.0	31.0					3																	184100816		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100816G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1078G>T	3.37:g.184100816G>T	ENSP00000204604:p.Ala360Ser					CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.A360S|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'UTR	p.A360S	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1324	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		360			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1078G>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004477	0.74932	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.45668	0.89;0.89;0.89	4.79	4.79	0.61399	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.65561	-0.6138	10	0.87932	D	0	-9.9062	16.8169	0.85736	0.0:0.0:1.0:0.0	.	360;360	E7ESX1;Q9H2X0	.;CHRD_HUMAN	S	360;360;360;73	ENSP00000204604:A360S;ENSP00000408972:A360S;ENSP00000334036:A360S	ENSP00000204604:A360S	A	+	1	0	CHRD	185583510	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.069000	0.76755	2.375000	0.81037	0.563000	0.77884	GCT		PASS	0.637	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		5	28	5	28	---	---	---	---
OCIAD2	132299	broad.mit.edu	37	4	48887563	48887563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:48887563C>A	ENST00000508632.1	-	7	635	c.403G>T	c.(403-405)Gag>Tag	p.E135*	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Silent_p.V95V	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	135						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)		p.E135*(1)		kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TTGCATTCCTCACAGGTAAGG	0.393																																						uc003gyt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(403-405)GAG>TAG		OCIA domain containing 2 isoform 1							152.0	146.0	148.0					4																	48887563		2203	4300	6503	SO:0001587	stop_gained	132299					endosome		g.chr4:48887563C>A	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.403G>T	4.37:g.48887563C>A	ENSP00000423014:p.Glu135*					OCIAD2_uc003gyu.2_Silent_p.V95V	p.E135*	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN			7	606	-			135					B4DPE7|Q8N544	Nonsense_Mutation	SNP	ENST00000508632.1	37	c.403G>T	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199681	0.79015	.	.	ENSG00000145247	ENST00000508632	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5319	14.2273	0.65868	0.0:1.0:0.0:0.0	.	.	.	.	X	135	.	.	E	-	1	0	OCIAD2	48582320	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.386000	0.44380	2.734000	0.93682	0.563000	0.77884	GAG		PASS	0.393	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		87	68	87	68	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972048	55972048	+	Silent	SNP	C	C	A	rs138803814	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:55972048C>A	ENST00000263923.4	-	12	1891	c.1596G>T	c.(1594-1596)gcG>gcT	p.A532A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	532	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A532A(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGTTGACCGCTTCACATT	0.493			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		2	Substitution - coding silent(2)		lung(2)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1594-1596)GCG>GCT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						298.0	283.0	288.0					4																	55972048		2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55972048C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1596G>T	4.37:g.55972048C>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.A532A|KDR_uc011bzx.1_Silent_p.A532A	p.A532A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		12	1898	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		532			Ig-like C2-type 5.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.1596G>T	CCDS3497.1																																																																																				PASS	0.493	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			57	222	57	222	---	---	---	---
NMU	10874	broad.mit.edu	37	4	56496629	56496629	+	Splice_Site	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:56496629T>A	ENST00000264218.3	-	2	218		c.e2-2		NMU_ENST00000511469.1_Splice_Site|NMU_ENST00000505262.1_Splice_Site|NMU_ENST00000515325.1_Splice_Site|NMU_ENST00000507338.1_Splice_Site	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U						digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)	p.?(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TTGGAGCACCTAAAAATAAAG	0.323																																						uc003hbc.2																			1	Unknown(1)		lung(1)		0						c.e2-1		neuromedin U precursor							75.0	73.0	74.0					4																	56496629		2203	4298	6501	SO:0001630	splice_region_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56496629T>A	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.113-2A>T	4.37:g.56496629T>A						NMU_uc003hbd.1_Splice_Site|NMU_uc010igv.1_Splice_Site|NMU_uc010igw.1_Splice_Site|NMU_uc010igx.1_Splice_Site	p.G38_splice	NM_006681	NP_006672	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	2	219	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)							Splice_Site	SNP	ENST00000264218.3	37	c.113_splice	CCDS3501.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.363860	0.24684	.	.	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4983	0.44791	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NMU	56191386	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	3.608000	0.54109	2.035000	0.60131	0.455000	0.32223	.		PASS	0.323	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		Intron	23	41	23	41	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94376864	94376864	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:94376864G>A	ENST00000282020.4	+	11	1855	c.1597G>A	c.(1597-1599)Gtg>Atg	p.V533M	GRID2_ENST00000510992.1_Missense_Mutation_p.V438M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	533					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.V533M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCGTGAAAATGTGGTGGACTT	0.418																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1597-1599)GTG>ATG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						132.0	122.0	125.0					4																	94376864		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376864G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1597G>A	4.37:g.94376864G>A	ENSP00000282020:p.Val533Met					GRID2_uc011cdu.1_Missense_Mutation_p.V438M	p.V533M	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1855	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	533			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1597G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941792	0.92526	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.28454	1.61;1.61	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.057425	0.64402	D	0.000002	T	0.62048	0.2396	M	0.84948	2.725	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.65874	0.891;0.939	T	0.65565	-0.6137	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	438;533	E9PH24;O43424	.;GRID2_HUMAN	M	533;438	ENSP00000282020:V533M;ENSP00000421257:V438M	ENSP00000282020:V533M	V	+	1	0	GRID2	94595887	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GTG		PASS	0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			55	42	55	42	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123274300	123274300	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:123274300C>G	ENST00000264501.4	+	81	14464	c.14091C>G	c.(14089-14091)atC>atG	p.I4697M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I4697M			Q2LD37	K1109_HUMAN	KIAA1109	4697					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.I4697M(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						CTCAGAAAATCTGGGAAGATG	0.358																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(14089-14091)ATC>ATG		fragile site-associated protein							71.0	64.0	66.0					4																	123274300		1823	4085	5908	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274300C>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.14091C>G	4.37:g.123274300C>G	ENSP00000264501:p.Ile4697Met					KIAA1109_uc003iem.2_Missense_Mutation_p.I1053M	p.I4697M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			79	14136	+			4697					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14091C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.657643|2.657643	0.47467|0.47467	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Fragile site-associated protein, C-terminal (1);|.	0.050140|.	0.85682|.	D|.	0.000000|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;P|.	0.42518|.	0.527;0.782|.	P;P|.	0.53401|.	0.508;0.725|.	T|T	0.58595|0.58595	-0.7609|-0.7609	10|5	0.66056|.	D|.	0.02|.	.|.	6.172|6.172	0.20422|0.20422	0.1825:0.707:0.0:0.1105|0.1825:0.707:0.0:0.1105	.|.	4696;4697|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	M|C	4697;4697;1366;298|1073	ENSP00000264501:I4697M;ENSP00000373390:I4697M;ENSP00000410874:I1366M|.	ENSP00000264501:I4697M|.	I|S	+|+	3|2	3|0	KIAA1109|KIAA1109	123493750|123493750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.414000|1.414000	0.34736|0.34736	2.769000|2.769000	0.95229|0.95229	0.585000|0.585000	0.79938|0.79938	ATC|TCT		PASS	0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		20	35	20	35	---	---	---	---
UCP1	7350	broad.mit.edu	37	4	141489864	141489864	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:141489864G>A	ENST00000262999.3	-	1	95	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	7					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.S7L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GTGTACGTCCGAGGCTGTCAG	0.617																																						uc011chj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)TCG>TTG		uncoupling protein 1							29.0	25.0	27.0					4																	141489864		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141489864G>A	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.20C>T	4.37:g.141489864G>A	ENSP00000262999:p.Ser7Leu					UCP1_uc011chk.1_Missense_Mutation_p.S7L	p.S7L	NM_021833	NP_068605	P25874	UCP1_HUMAN			1	96	-	all_hematologic(180;0.162)		7					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.20C>T	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787886	0.70337	.	.	ENSG00000109424	ENST00000262999	T	0.77098	-1.07	4.41	3.52	0.40303	.	0.399127	0.25511	N	0.030172	T	0.64875	0.2638	L	0.36672	1.1	0.09310	N	1	B;B	0.32731	0.382;0.382	B;B	0.23018	0.043;0.043	T	0.61008	-0.7149	10	0.45353	T	0.12	.	12.2445	0.54561	0.0:0.1717:0.8282:0.0	.	7;7	Q4KMT7;P25874	.;UCP1_HUMAN	L	7	ENSP00000262999:S7L	ENSP00000262999:S7L	S	-	2	0	UCP1	141709314	0.587000	0.26791	0.004000	0.12327	0.878000	0.50629	2.782000	0.47758	2.280000	0.76307	0.561000	0.74099	TCG		PASS	0.617	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			4	11	4	11	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149075781	149075781	+	Silent	SNP	G	G	A	rs147478460		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:149075781G>A	ENST00000358102.3	-	5	2648	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.A762A|NR3C2_ENST00000355292.3_Silent_p.A766A|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.A766A|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	762	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A762A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCAGATTTTCGGCTGTATCTG	0.483																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(2284-2286)GCC>GCT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	G	,	0,4406		0,0,2203	197.0	196.0	196.0		2286,	-5.2	0.6	4	dbSNP_134	196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	NR3C2	NM_000901.4,NM_001166104.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	762/985,	149075781	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075781G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2286C>T	4.37:g.149075781G>A						NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	p.A762A	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2620	-	all_hematologic(180;0.151)		762			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2286C>T	CCDS3772.1																																																																																				PASS	0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	189	8	189	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153897750	153897750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:153897750G>T	ENST00000511601.1	+	12	3495	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	FHDC1_ENST00000260008.3_Nonsense_Mutation_p.E1103*			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1103								p.E1103*(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)					AGAGTCTGCGGAGGGTCCCAG	0.687																																						uc003inf.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(3307-3309)GAG>TAG		FH2 domain containing 1							15.0	18.0	17.0					4																	153897750		2199	4299	6498	SO:0001587	stop_gained	85462				actin cytoskeleton organization		actin binding	g.chr4:153897750G>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.3307G>T	4.37:g.153897750G>T	ENSP00000427567:p.Glu1103*						p.E1103*	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	3382	+	all_hematologic(180;0.093)		1103						Nonsense_Mutation	SNP	ENST00000511601.1	37	c.3307G>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	41	8.703562	0.98920	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	.	.	.	5.54	5.54	0.83059	.	1.220700	0.05404	N	0.541185	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	.	.	.	X	1103	.	ENSP00000260008:E1103X	E	+	1	0	FHDC1	154117200	0.923000	0.31300	0.034000	0.17996	0.010000	0.07245	5.249000	0.65427	2.610000	0.88304	0.655000	0.94253	GAG		PASS	0.687	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		11	7	11	7	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507479	155507479	+	Missense_Mutation	SNP	C	C	T	rs139005577		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:155507479C>T	ENST00000302053.3	-	5	1180	c.1102G>A	c.(1102-1104)Gga>Aga	p.G368R	FGA_ENST00000403106.3_Missense_Mutation_p.G368R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	368					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.G368R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGCACTTCCGCGTTCAGAG	0.547																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1102-1104)GGA>AGA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	65.0	69.0	68.0		1102,1102	3.3	0.0	4	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FGA	NM_000508.3,NM_021871.2	125,125	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	368/867,368/645	155507479	3,13003	2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507479C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1102G>A	4.37:g.155507479C>T	ENSP00000306361:p.Gly368Arg					FGA_uc003ioe.1_Missense_Mutation_p.G368R|FGA_uc003iof.1_Intron	p.G368R	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1160	-	all_hematologic(180;0.215)	Renal(120;0.0458)	368			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1102G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651154	0.29336	2.27E-4	2.33E-4	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.88354	-2.37;-2.37	4.21	3.28	0.37604	.	3.669800	0.00829	N	0.001652	D	0.87180	0.6113	M	0.75264	2.295	0.09310	N	1	B;B	0.32350	0.366;0.072	B;B	0.21708	0.036;0.016	T	0.71056	-0.4703	10	0.28530	T	0.3	.	6.2142	0.20646	0.1824:0.5513:0.2663:0.0	.	368;368	P02671-2;P02671	.;FIBA_HUMAN	R	368	ENSP00000306361:G368R;ENSP00000385981:G368R	ENSP00000306361:G368R	G	-	1	0	FGA	155726929	0.003000	0.15002	0.005000	0.12908	0.002000	0.02628	1.869000	0.39519	2.040000	0.60383	0.650000	0.86243	GGA		PASS	0.547	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		52	43	52	43	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187509794	187509794	+	Silent	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:187509794T>C	ENST00000441802.2	-	27	13928	c.13719A>G	c.(13717-13719)gaA>gaG	p.E4573E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4573					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E4573E(1)|p.E4576E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTCACCTCTTCGAAGTGGC	0.587										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(13717-13719)GAA>GAG		FAT tumor suppressor 1 precursor							40.0	48.0	46.0					4																	187509794		2099	4205	6304	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187509794T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13719A>G	4.37:g.187509794T>C		HNSCC(5;0.00058)				FAT1_uc010isn.2_Silent_p.E220E|FAT1_uc003ize.2_Silent_p.E464E	p.E4573E	NM_005245	NP_005236	Q14517	FAT1_HUMAN			27	13907	-			4573			Cytoplasmic (Potential).			Silent	SNP	ENST00000441802.2	37	c.13719A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	3.399	-0.122712	0.06795	.	.	ENSG00000083857	ENST00000512772	.	.	.	5.14	-2.37	0.06643	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32903	-0.9889	4	.	.	.	.	2.2145	0.03956	0.1157:0.1317:0.2407:0.5119	.	.	.	.	G	353	.	.	R	-	1	2	FAT1	187746788	0.419000	0.25449	0.976000	0.42696	0.413000	0.31143	-0.355000	0.07671	-0.141000	0.11374	0.454000	0.30748	AGA		PASS	0.587	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		23	2	23	2	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189060895	189060895	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr4:189060895G>C	ENST00000332517.3	+	1	323	c.183G>C	c.(181-183)gaG>gaC	p.E61D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	61					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E61D(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGACCTTGGAGGGCCCGCATT	0.607																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(181-183)GAG>GAC		tripartite motif family-like 1							97.0	101.0	99.0					4																	189060895		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060895G>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.183G>C	4.37:g.189060895G>C	ENSP00000327738:p.Glu61Asp						p.E61D	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	298	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	61					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.183G>C	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	5.071	0.198677	0.09652	.	.	ENSG00000184108	ENST00000332517	D	0.84146	-1.81	5.59	-0.215	0.13157	Zinc finger, RING/FYVE/PHD-type (1);	0.562636	0.16348	N	0.218355	T	0.76814	0.4040	M	0.63843	1.955	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61535	-0.7043	10	0.34782	T	0.22	-8.6226	1.5791	0.02630	0.1876:0.1277:0.4228:0.2618	.	61	Q8N9V2	TRIML_HUMAN	D	61	ENSP00000327738:E61D	ENSP00000327738:E61D	E	+	3	2	TRIML1	189297889	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	-0.900000	0.04097	-0.294000	0.08973	-0.182000	0.12963	GAG		PASS	0.607	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		82	57	82	57	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	171161	171161	+	Missense_Mutation	SNP	G	G	C	rs558450136		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:171161G>C	ENST00000283426.6	+	13	2715	c.2665G>C	c.(2665-2667)Gag>Cag	p.E889Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	889	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E80Q(1)|p.E889Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTTCCAGGAAGAGCAGTTTGG	0.602																																						uc003jak.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(2665-2667)GAG>CAG		pleckstrin homology domain containing, family G							74.0	72.0	73.0					5																	171161		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171161G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2665G>C	5.37:g.171161G>C	ENSP00000283426:p.Glu889Gln						p.E889Q	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	13	2715	+			889			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2665G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742624	0.30865	.	.	ENSG00000153404	ENST00000283426	T	0.31247	1.5	3.05	3.05	0.35203	Dbl homology (DH) domain (5);	.	.	.	.	T	0.35682	0.0940	L	0.59436	1.845	0.29515	N	0.853895	P	0.36110	0.537	B	0.41894	0.369	T	0.31998	-0.9923	9	0.51188	T	0.08	.	11.5325	0.50618	0.0:0.0:1.0:0.0	.	889	Q96PX9	PKH4B_HUMAN	Q	889	ENSP00000283426:E889Q	ENSP00000283426:E889Q	E	+	1	0	PLEKHG4B	224161	1.000000	0.71417	0.515000	0.27774	0.332000	0.28634	5.108000	0.64609	1.225000	0.43566	0.467000	0.42956	GAG		PASS	0.602	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		31	117	31	117	---	---	---	---
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T	rs200729060	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347	OTU.							p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15262	0.0		0.001	False		,,,				2504	0.001					uc003jfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1039-1041)AAC>AAT		hypothetical protein LOC54491							45.0	48.0	47.0					5																	14610393		2203	4300	6503	SO:0001819	synonymous_variant	54491							g.chr5:14610393C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	5.37:g.14610393C>T							p.N347N	NM_019018	NP_061891	Q9NUU6	F105A_HUMAN			8	1154	+	Lung NSC(4;0.00592)		347					Q53H50|Q9H037	Silent	SNP	ENST00000274217.3	37	c.1041C>T	CCDS3884.1																																																																																				PASS	0.532	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		30	101	30	101	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21842439	21842439	+	Splice_Site	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:21842439T>A	ENST00000382254.1	-	8	1733		c.e8-2		CDH12_ENST00000521384.1_Splice_Site|CDH12_ENST00000522262.1_Splice_Site|CDH12_ENST00000504376.2_Splice_Site	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						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.?(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						TAATAACACCTTAAGGGATAA	0.343										HNSCC(59;0.17)																												uc010iuc.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e5-1		cadherin 12, type 2 preproprotein							117.0	104.0	109.0					5																	21842439		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842439T>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.647-2A>T	5.37:g.21842439T>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Splice_Site_p.G176_splice|CDH12_uc003jgk.2_Splice_Site_p.G216_splice	p.G216_splice	NM_004061	NP_004052	P55289	CAD12_HUMAN			5	1105	-								B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.647_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482350	0.44147	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3207	0.74120	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH12	21878196	1.000000	0.71417	0.626000	0.29213	0.306000	0.27790	5.664000	0.68045	2.007000	0.58848	0.533000	0.62120	.		PASS	0.343	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Intron	34	90	34	90	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388780	44388780	+	Missense_Mutation	SNP	C	C	G	rs199671312		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:44388780C>G	ENST00000264664.4	-	1	119	c.5G>C	c.(4-6)tGg>tCg	p.W2S	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	2					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.W2S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATCCATTTCCACATTGTACT	0.522																																						uc003jog.1																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(4-6)TGG>TCG		fibroblast growth factor 10 precursor							44.0	34.0	37.0					5																	44388780		2202	4300	6502	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388780C>G		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.5G>C	5.37:g.44388780C>G	ENSP00000264664:p.Trp2Ser						p.W2S	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	5	-	Lung NSC(6;1.12e-06)		2					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.5G>C	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816874	0.32145	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.74526	-0.85	4.6	4.6	0.57074	.	0.000000	0.39909	N	0.001226	T	0.59770	0.2218	N	0.14661	0.345	0.80722	D	1	B	0.23650	0.089	B	0.18871	0.023	T	0.57177	-0.7856	10	0.35671	T	0.21	.	17.2216	0.86959	0.0:1.0:0.0:0.0	.	2	O15520	FGF10_HUMAN	S	2	ENSP00000264664:W2S	ENSP00000264664:W2S	W	-	2	0	FGF10	44424537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.380000	0.81148	0.561000	0.74099	TGG		PASS	0.522	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		16	73	16	73	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45396653	45396653	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:45396653C>A	ENST00000303230.4	-	4	1228	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	391					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.G391C(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						GTGGCATGGCCGACAAACATG	0.498																																						uc003jok.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1171-1173)GGC>TGC		hyperpolarization activated cyclic							78.0	68.0	72.0					5																	45396653		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396653C>A	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.1171G>T	5.37:g.45396653C>A	ENSP00000307342:p.Gly391Cys						p.G391C	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1196	-			391			Helical; Name=Segment S6; (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1171G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417017	0.83449	.	.	ENSG00000164588	ENST00000303230	D	0.99070	-5.39	5.42	4.53	0.55603	Ion transport (1);	0.085714	0.49305	D	0.000159	D	0.99450	0.9805	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98333	1.0534	10	0.87932	D	0	.	16.0987	0.81152	0.0:0.866:0.134:0.0	.	391	O60741	HCN1_HUMAN	C	391	ENSP00000307342:G391C	ENSP00000307342:G391C	G	-	1	0	HCN1	45432410	1.000000	0.71417	0.894000	0.35097	0.983000	0.72400	7.651000	0.83577	1.481000	0.48307	0.650000	0.86243	GGC		PASS	0.498	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		51	35	51	35	---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108714199	108714199	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:108714199T>G	ENST00000361189.2	-	4	1228	c.989A>C	c.(988-990)gAa>gCa	p.E330A	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.E330A	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	330					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E330A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AAAACCTGTTTCTTGGTCCAC	0.408																																						uc003kos.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(988-990)GAA>GCA		praja 2, RING-H2 motif containing							235.0	240.0	238.0					5																	108714199		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714199T>G	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.989A>C	5.37:g.108714199T>G	ENSP00000354775:p.Glu330Ala						p.E330A	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	1209	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	330					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.989A>C	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832042	0.71258	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05382	3.45;3.45	5.61	5.61	0.85477	.	0.224798	0.39407	N	0.001375	T	0.10766	0.0263	L	0.54323	1.7	0.42316	D	0.992239	P	0.46220	0.874	B	0.42555	0.391	T	0.01294	-1.1393	10	0.72032	D	0.01	-13.7197	16.1025	0.81194	0.0:0.0:0.0:1.0	.	330	O43164	PJA2_HUMAN	A	330	ENSP00000354775:E330A;ENSP00000355284:E330A	ENSP00000354775:E330A	E	-	2	0	PJA2	108742098	0.997000	0.39634	0.974000	0.42286	0.996000	0.88848	2.940000	0.49003	2.254000	0.74563	0.533000	0.62120	GAA		PASS	0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		123	15	123	15	---	---	---	---
COMMD10	51397	broad.mit.edu	37	5	115628151	115628151	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:115628151G>A	ENST00000274458.4	+	7	636	c.574G>A	c.(574-576)Gag>Aag	p.E192K	COMMD10_ENST00000515539.1_Missense_Mutation_p.E178K	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	192	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.E192K(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TAAATAGCTAGAGACTATACA	0.343																																						uc003krt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)GAG>AAG		COMM domain containing 10							171.0	153.0	159.0					5																	115628151		2202	4300	6502	SO:0001583	missense	51397						protein binding	g.chr5:115628151G>A	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.574G>A	5.37:g.115628151G>A	ENSP00000274458:p.Glu192Lys						p.E192K	NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)	7	597	+		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)	192			COMM.		D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	c.574G>A	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991682	0.93106	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.58797	3.05;3.05;0.31	5.91	5.91	0.95273	COMM domain (1);	0.415630	0.25294	N	0.031719	T	0.78960	0.4366	M	0.81497	2.545	0.53688	D	0.999975	D	0.76494	0.999	D	0.72982	0.979	T	0.80167	-0.1495	10	0.87932	D	0	-10.017	19.9501	0.97195	0.0:0.0:1.0:0.0	.	192	Q9Y6G5	COMDA_HUMAN	K	192;178;111	ENSP00000274458:E192K;ENSP00000427319:E178K;ENSP00000424611:E111K	ENSP00000274458:E192K	E	+	1	0	COMMD10	115656050	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.503000	0.81632	2.812000	0.96745	0.558000	0.71614	GAG		PASS	0.343	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		48	12	48	12	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127727716	127727716	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:127727716C>A	ENST00000508053.1	-	17	2572	c.1598G>T	c.(1597-1599)tGt>tTt	p.C533F	FBN2_ENST00000508989.1_Missense_Mutation_p.C500F|FBN2_ENST00000262464.4_Missense_Mutation_p.C533F			P35556	FBN2_HUMAN	fibrillin 2	533	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C533F(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCTATACAATCTCCATT	0.328																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1597-1599)TGT>TTT		fibrillin 2 precursor							115.0	110.0	111.0					5																	127727716		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127727716C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1598G>T	5.37:g.127727716C>A	ENSP00000424571:p.Cys533Phe					FBN2_uc003kuv.2_Missense_Mutation_p.C500F	p.C533F	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	11	2037	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	533			EGF-like 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1598G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653239	0.67472	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91011	-2.77;-2.77;-2.77	4.14	4.14	0.48551	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.96784	0.8950	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;0.98	D;D	0.85130	0.997;0.974	D	0.97910	1.0308	10	0.87932	D	0	.	17.7235	0.88359	0.0:1.0:0.0:0.0	.	500;533	D6RJI3;P35556	.;FBN2_HUMAN	F	533;533;500	ENSP00000262464:C533F;ENSP00000424571:C533F;ENSP00000425596:C500F	ENSP00000262464:C533F	C	-	2	0	FBN2	127755615	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	7.113000	0.77095	2.592000	0.87571	0.585000	0.79938	TGT		PASS	0.328	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	9	37	9	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131008549	131008549	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:131008549C>A	ENST00000510461.1	-	14	1683	c.1588G>T	c.(1588-1590)Gac>Tac	p.D530Y	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D485Y|FNIP1_ENST00000307968.7_Missense_Mutation_p.D502Y	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	530					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D530Y(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGGACCATGTCTTGTCGTTTG	0.403																																						uc003kvs.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1588-1590)GAC>TAC		folliculin interacting protein 1 isoform 1							79.0	82.0	81.0					5																	131008549		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131008549C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1588G>T	5.37:g.131008549C>A	ENSP00000421985:p.Asp530Tyr					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D502Y|FNIP1_uc010jdm.1_Missense_Mutation_p.D485Y	p.D530Y	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	1730	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	530					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1588G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003905	0.74932	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.30981	1.51;1.51;1.51	5.97	5.97	0.96955	.	.	.	.	.	T	0.56746	0.2006	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.69479	0.964;0.964;0.935	T	0.55566	-0.8121	9	0.87932	D	0	-7.5307	20.4388	0.99107	0.0:1.0:0.0:0.0	.	530;502;530	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	Y	502;485;290;530	ENSP00000309266:D502Y;ENSP00000310453:D485Y;ENSP00000421985:D530Y	ENSP00000310453:D485Y	D	-	1	0	FNIP1	131036448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GAC		PASS	0.403	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		43	14	43	14	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145435759	145435759	+	Missense_Mutation	SNP	G	G	A	rs141349885	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:145435759G>A	ENST00000511217.1	+	7	1590	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.R513Q			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	513					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.R513Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAAAGGGCGGAGCAGCATG	0.552																																						uc003lnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1537-1539)CGG>CAG		SH3 domain containing ring finger 2		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	65.0	64.0	64.0		1538	4.9	1.0	5	dbSNP_134	64	10,8590	7.1+/-27.0	0,10,4290	yes	missense	SH3RF2	NM_152550.3	43	0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923	probably-damaging	513/730	145435759	12,12994	2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145435759G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1538G>A	5.37:g.145435759G>A	ENSP00000424497:p.Arg513Gln					SH3RF2_uc011dbl.1_Missense_Mutation_p.R513Q|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR	p.R513Q	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1776	+			513					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1538G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340797	0.81911	4.54E-4	0.001163	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.23552	1.9;1.9	5.81	4.94	0.65067	.	0.079608	0.52532	D	0.000074	T	0.46795	0.1411	L	0.59436	1.845	0.33018	D	0.528489	D	0.89917	1.0	D	0.80764	0.994	T	0.62134	-0.6918	10	0.72032	D	0.01	-14.3322	13.8018	0.63204	0.0744:0.0:0.9256:0.0	.	513	Q8TEC5	SH3R2_HUMAN	Q	513	ENSP00000352028:R513Q;ENSP00000424497:R513Q	ENSP00000352028:R513Q	R	+	2	0	SH3RF2	145415952	0.976000	0.34144	0.983000	0.44433	0.921000	0.55340	3.443000	0.52907	1.468000	0.48064	-0.136000	0.14681	CGG		PASS	0.552	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		44	9	44	9	---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145718768	145718768	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:145718768G>T	ENST00000230732.4	+	1	182	c.93G>T	c.(91-93)atG>atT	p.M31I	CTC-359M8.1_ENST00000515598.1_RNA|RBM27_ENST00000506502.1_Missense_Mutation_p.A1017S	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	31					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M31I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGAGGCCATGCGCCGAGTCT	0.537																																						uc003loa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)ATG>ATT		POU class 4 homeobox 3							100.0	91.0	94.0					5																	145718768		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145718768G>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.93G>T	5.37:g.145718768G>T	ENSP00000230732:p.Met31Ile						p.M31I	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	182	+			31					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.93G>T	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506258	0.26949	.	.	ENSG00000091010	ENST00000230732	T	0.23552	1.9	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	N	0.11818	0.18	0.54753	D	0.999989	B	0.06786	0.001	B	0.06405	0.002	T	0.07770	-1.0755	10	0.21540	T	0.41	.	14.1919	0.65644	0.0:0.0:1.0:0.0	.	31	Q15319	PO4F3_HUMAN	I	31	ENSP00000230732:M31I	ENSP00000230732:M31I	M	+	3	0	POU4F3	145698961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.610000	0.54125	2.197000	0.70478	0.462000	0.41574	ATG		PASS	0.537	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		39	10	39	10	---	---	---	---
MRPL22	29093	broad.mit.edu	37	5	154330396	154330396	+	Silent	SNP	A	A	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:154330396A>T	ENST00000523037.1	+	3	134	c.93A>T	c.(91-93)tcA>tcT	p.S31S	MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Silent_p.S57S|MRPL22_ENST00000522038.1_Silent_p.S37S	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	31					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S31S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACCTCAATCATATATCCACA	0.393																																						uc003lvy.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)TCA>TCT		mitochondrial ribosomal protein L22 isoform a							124.0	122.0	123.0					5																	154330396		2203	4300	6503	SO:0001819	synonymous_variant	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154330396A>T	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.93A>T	5.37:g.154330396A>T						MRPL22_uc003lvz.3_Intron	p.S31S	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		3	131	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	31					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Silent	SNP	ENST00000523037.1	37	c.93A>T	CCDS4331.1																																																																																				PASS	0.393	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			46	11	46	11	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169472827	169472827	+	Missense_Mutation	SNP	A	A	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:169472827A>C	ENST00000256935.8	+	39	3964	c.3884A>C	c.(3883-3885)gAa>gCa	p.E1295A	DOCK2_ENST00000540750.1_Missense_Mutation_p.E356A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E787A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1295	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.E1295A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGATGTGGGAAGAGGCCATA	0.562																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3883-3885)GAA>GCA		dedicator of cytokinesis 2							171.0	152.0	158.0					5																	169472827		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169472827A>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3884A>C	5.37:g.169472827A>C	ENSP00000256935:p.Glu1295Ala					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E787A	p.E1295A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		39	3964	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1295			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3884A>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815678	0.90790	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.67865	-0.29;-0.29;4.62	5.04	5.04	0.67666	.	0.054770	0.64402	D	0.000001	D	0.83991	0.5374	M	0.90977	3.165	0.58432	D	0.999996	D;D	0.69078	0.994;0.997	D;D	0.68039	0.912;0.955	D	0.86601	0.1866	10	0.45353	T	0.12	.	14.7659	0.69640	1.0:0.0:0.0:0.0	.	787;1295	E7ERW7;Q92608	.;DOCK2_HUMAN	A	1295;787;356	ENSP00000256935:E1295A;ENSP00000429283:E787A;ENSP00000438827:E356A	ENSP00000256935:E1295A	E	+	2	0	DOCK2	169405405	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.335000	0.96500	1.880000	0.54463	0.459000	0.35465	GAA		PASS	0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		42	11	42	11	---	---	---	---
MSX2	4488	broad.mit.edu	37	5	174156192	174156192	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:174156192G>T	ENST00000239243.6	+	2	537	c.410G>T	c.(409-411)aGg>aTg	p.R137M	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	137					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R137M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCACCCTGAGGAAACACAAG	0.488																																						uc003mcy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)AGG>ATG		msh homeobox 2							52.0	48.0	49.0					5																	174156192		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156192G>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.410G>T	5.37:g.174156192G>T	ENSP00000239243:p.Arg137Met						p.R137M	NM_002449	NP_002440	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	498	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	137					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.410G>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268814	0.95429	.	.	ENSG00000120149	ENST00000239243	D	0.95656	-3.77	5.81	5.81	0.92471	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98080	1.0403	10	0.87932	D	0	-19.8179	20.0621	0.97678	0.0:0.0:1.0:0.0	.	137	P35548	MSX2_HUMAN	M	137	ENSP00000239243:R137M	ENSP00000239243:R137M	R	+	2	0	MSX2	174088798	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.807000	0.99171	2.750000	0.94351	0.655000	0.94253	AGG		PASS	0.488	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			9	18	9	18	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176684105	176684105	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr5:176684105G>C	ENST00000439151.2	+	13	4964	c.4919G>C	c.(4918-4920)tGt>tCt	p.C1640S	NSD1_ENST00000347982.4_Missense_Mutation_p.C1371S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1371S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1537S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1640					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C1640S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCCACATCTGTATAACCTGT	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3	GRCh37	CM052307	NSD1	M		c.(4918-4920)TGT>TCT		nuclear receptor binding SET domain protein 1							97.0	80.0	86.0					5																	176684105		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176684105G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4919G>C	5.37:g.176684105G>C	ENSP00000395929:p.Cys1640Ser	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.C1371S|NSD1_uc003mfs.1_Missense_Mutation_p.C1537S|NSD1_uc011dfx.1_Missense_Mutation_p.C1288S	p.C1640S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	13	5057	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1640			PHD-type 2.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4919G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926635	0.92319	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	5.33	5.33	0.75918	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.98286	0.9432	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99081	1.0837	10	0.87932	D	0	.	19.3848	0.94553	0.0:0.0:1.0:0.0	.	1371;1537;1640	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1371;1640;1371;1537	ENSP00000346111:C1371S;ENSP00000395929:C1640S;ENSP00000343209:C1371S;ENSP00000354310:C1537S	ENSP00000343209:C1371S	C	+	2	0	NSD1	176616711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.971000	0.88012	2.649000	0.89929	0.650000	0.86243	TGT		PASS	0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		24	7	24	7	---	---	---	---
HIST1H3G	8355	broad.mit.edu	37	6	26271447	26271447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:26271447G>A	ENST00000305910.3	-	1	165	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	56					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Q56*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GTCGACTTCTGATAGCGGCGA	0.607																																						uc003nhi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(166-168)CAG>TAG		H3 histone family, member H							67.0	71.0	69.0					6																	26271447		2203	4300	6503	SO:0001587	stop_gained	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271447G>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.166C>T	6.37:g.26271447G>A	ENSP00000439660:p.Gln56*					uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	p.Q56*	NM_003534	NP_003525	P68431	H31_HUMAN			1	166	-			56					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	ENST00000305910.3	37	c.166C>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	34	5.322893	0.95708	.	.	ENSG00000256018	ENST00000305910	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4001	0.83637	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000439660:Q56X	Q	-	1	0	HIST1H3G	26379426	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.355000	0.73041	2.183000	0.69458	0.563000	0.77884	CAG		PASS	0.607	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		65	71	65	71	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080187	29080187	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:29080187C>A	ENST00000377169.1	+	1	520	c.520C>A	c.(520-522)Cac>Aac	p.H174N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H174N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGTGTGGACACCGCCAAGT	0.498																																						uc011dll.1																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)CAC>AAC		olfactory receptor, family 2, subfamily J,							140.0	150.0	147.0					6																	29080187		1291	2573	3864	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080187C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.520C>A	6.37:g.29080187C>A	ENSP00000366374:p.His174Asn						p.H174N	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	520	+			174			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.520C>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	0.182	-1.061046	0.01950	.	.	ENSG00000204701	ENST00000377169	T	0.00063	8.78	2.78	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.31207	0.915	0.09310	N	1	B	0.12630	0.006	B	0.25614	0.062	T	0.37267	-0.9713	9	0.30854	T	0.27	.	1.947	0.03358	0.1822:0.4138:0.2803:0.1237	.	174	O76001	OR2J3_HUMAN	N	174	ENSP00000366374:H174N	ENSP00000366374:H174N	H	+	1	0	OR2J3	29188166	0.000000	0.05858	0.791000	0.31998	0.168000	0.22595	-1.300000	0.02751	0.473000	0.27368	0.436000	0.28706	CAC		PASS	0.498	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			114	96	114	96	---	---	---	---
PGC	5225	broad.mit.edu	37	6	41708268	41708268	+	Missense_Mutation	SNP	G	G	A	rs572584010		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:41708268G>A	ENST00000373025.3	-	6	790	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	243					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.P243L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGGGTGACAGGCGCCCAGTA	0.617																																						uc003ora.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CCT>CTT		progastricsin (pepsinogen C) precursor							111.0	107.0	109.0					6																	41708268		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41708268G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.728C>T	6.37:g.41708268G>A	ENSP00000362116:p.Pro243Leu						p.P243L	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		6	777	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		243					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.728C>T	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074014	0.36566	.	.	ENSG00000096088	ENST00000373025	T	0.42131	0.98	5.08	4.22	0.49857	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.123750	0.53938	N	0.000046	T	0.73737	0.3625	H	0.99249	4.485	0.38445	D	0.946814	D	0.89917	1.0	D	0.87578	0.998	D	0.85338	0.1094	10	0.87932	D	0	.	13.2182	0.59873	0.0772:0.0:0.9228:0.0	.	243	P20142	PEPC_HUMAN	L	243	ENSP00000362116:P243L	ENSP00000362116:P243L	P	-	2	0	PGC	41816246	1.000000	0.71417	0.110000	0.21437	0.004000	0.04260	5.579000	0.67457	1.378000	0.46305	0.561000	0.74099	CCT		PASS	0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			76	65	76	65	---	---	---	---
DEFB114	245928	broad.mit.edu	37	6	49928073	49928073	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:49928073C>G	ENST00000322066.3	-	2	141	c.142G>C	c.(142-144)Gac>Cac	p.D48H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	48					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.D48H(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					GAACATATGTCTATTTGCTTT	0.373																																						uc011dwp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)GAC>CAC		beta-defensin 114 precursor							123.0	112.0	116.0					6																	49928073		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928073C>G	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.142G>C	6.37:g.49928073C>G	ENSP00000312702:p.Asp48His						p.D48H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			2	142	-	Lung NSC(77;0.042)		48					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.142G>C	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.989916	0.18966	.	.	ENSG00000177684	ENST00000322066	T	0.17213	2.29	3.55	2.63	0.31362	.	0.000000	0.39909	N	0.001236	T	0.20700	0.0498	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01961	-1.1239	8	.	.	.	-11.9279	7.9933	0.30252	0.2432:0.7568:0.0:0.0	.	48	Q30KQ6	DB114_HUMAN	H	48	ENSP00000312702:D48H	.	D	-	1	0	DEFB114	50036032	0.416000	0.25424	0.015000	0.15790	0.008000	0.06430	1.394000	0.34509	1.008000	0.39264	0.650000	0.86243	GAC		PASS	0.373	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		34	36	34	36	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268797	52268797	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:52268797C>T	ENST00000442253.2	+	2	960	c.786C>T	c.(784-786)ttC>ttT	p.F262F	PAQR8_ENST00000360726.3_Silent_p.F262F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	262					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.F262F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATTTCTTCTCCTGCCCCG	0.577																																						uc003pao.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(784-786)TTC>TTT		progestin and adipoQ receptor family member							123.0	109.0	114.0					6																	52268797		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268797C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.786C>T	6.37:g.52268797C>T							p.F262F	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	960	+	Lung NSC(77;0.0875)		262			Helical; Name=5; (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.786C>T	CCDS4941.1																																																																																				PASS	0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		46	50	46	50	---	---	---	---
DST	667	broad.mit.edu	37	6	56350253	56350253	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:56350253C>T	ENST00000361203.3	-	83	20111	c.20104G>A	c.(20104-20106)Gaa>Aaa	p.E6702K	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E6487K|DST_ENST00000421834.2_Missense_Mutation_p.E4725K|DST_ENST00000370754.5_Missense_Mutation_p.E6991K|DST_ENST00000244364.6_Missense_Mutation_p.E4399K|DST_ENST00000370769.4_Missense_Mutation_p.E6813K|DST_ENST00000370788.2_Missense_Mutation_p.E4616K			Q03001	DYST_HUMAN	dystonin	6701					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6813K(1)|p.E4399K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACAGGGCTTCCTCCAATTTG	0.388																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(14707-14709)GAA>AAA		dystonin isoform 2							45.0	43.0	44.0					6																	56350253		1819	4071	5890	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56350253C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20104G>A	6.37:g.56350253C>T	ENSP00000354508:p.Glu6702Lys					DST_uc003pcz.3_Missense_Mutation_p.E4725K|DST_uc011dxj.1_Missense_Mutation_p.E4754K|DST_uc011dxk.1_Missense_Mutation_p.E4765K|DST_uc003pcy.3_Missense_Mutation_p.E4399K|DST_uc003pda.3_Missense_Mutation_p.E95K	p.E4903K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		82	14735	-	Lung NSC(77;0.103)		6811			Spectrin 18.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14707G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.118116	0.77323	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.56103	0.55;0.55;0.55;0.55;0.48;0.48;0.48	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000031	T	0.73001	0.3531	M	0.83603	2.65	0.33659	D	0.609499	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;1.0;0.999	D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.99;0.998;0.992	T	0.73244	-0.4044	9	0.54805	T	0.06	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	4725;6813;6991;95;6811;4399	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	K	4399;6991;6813;4725;6487;4616;6702	ENSP00000244364:E4399K;ENSP00000359790:E6991K;ENSP00000359805:E6813K;ENSP00000400883:E4725K;ENSP00000393645:E6487K;ENSP00000359824:E4616K;ENSP00000354508:E6702K	ENSP00000244364:E4399K	E	-	1	0	DST	56458212	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	30	17	30	---	---	---	---
DST	667	broad.mit.edu	37	6	56497780	56497780	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:56497780C>T	ENST00000361203.3	-	24	3051	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	DST_ENST00000312431.6_Missense_Mutation_p.R1015H|DST_ENST00000446842.2_Missense_Mutation_p.R689H|DST_ENST00000370765.6_Missense_Mutation_p.R689H|DST_ENST00000421834.2_Missense_Mutation_p.R1015H|DST_ENST00000370754.5_Missense_Mutation_p.R1193H|DST_ENST00000244364.6_Missense_Mutation_p.R689H|DST_ENST00000518935.1_Missense_Mutation_p.R689H|DST_ENST00000370769.4_Missense_Mutation_p.R1015H|DST_ENST00000370788.2_Missense_Mutation_p.R1015H			Q03001	DYST_HUMAN	dystonin	1015					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R689H(4)|p.R1015H(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTCAAAACGAGATTGTAG	0.358																																						uc003pdf.2																			6	Substitution - Missense(6)	p.R689H(1)|p.R1015H(1)	lung(4)|ovary(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(3577-3579)CGT>CAT		dystonin isoform 2							110.0	107.0	108.0					6																	56497780		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497780C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3044G>A	6.37:g.56497780C>T	ENSP00000354508:p.Arg1015His					DST_uc003pcz.3_Missense_Mutation_p.R1015H|DST_uc011dxj.1_Missense_Mutation_p.R1044H|DST_uc011dxk.1_Missense_Mutation_p.R1055H|DST_uc003pcy.3_Missense_Mutation_p.R689H|DST_uc003pdb.2_Missense_Mutation_p.R689H|DST_uc003pdc.3_Missense_Mutation_p.R689H|DST_uc003pdd.3_Missense_Mutation_p.R689H	p.R1193H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3606	-	Lung NSC(77;0.103)		1015					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3578G>A		.	.	.	.	.	.	.	.	.	.	C	9.502	1.103451	0.20632	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.69	4.82	0.62117	.	0.111665	0.40554	N	0.001080	T	0.12050	0.0293	N	0.00360	-1.595	0.33753	D	0.620823	B;D;B;B;B;P;B;P	0.89917	0.007;1.0;0.007;0.005;0.006;0.568;0.007;0.49	B;D;B;B;B;B;B;B	0.78314	0.001;0.991;0.001;0.001;0.003;0.165;0.001;0.081	T	0.36114	-0.9761	9	0.02654	T	1	.	14.7848	0.69793	0.0:0.931:0.0:0.069	.	1015;1015;1193;689;689;689;1015;689	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	H	689;1193;1015;1015;689;1015;1015;1015;689;1055;689;689	ENSP00000244364:R689H;ENSP00000359790:R1193H;ENSP00000359805:R1015H;ENSP00000400883:R1015H;ENSP00000393645:R689H;ENSP00000307959:R1015H;ENSP00000359824:R1015H;ENSP00000354508:R1015H;ENSP00000404924:R689H;ENSP00000431030:R1055H;ENSP00000359801:R689H;ENSP00000431003:R689H	ENSP00000244364:R689H	R	-	2	0	DST	56605739	1.000000	0.71417	0.947000	0.38551	0.669000	0.39330	3.746000	0.55127	1.558000	0.49541	0.650000	0.86243	CGT		PASS	0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	108	15	108	---	---	---	---
SLC17A5	26503	broad.mit.edu	37	6	74331542	74331542	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:74331542C>T	ENST00000355773.5	-	7	1231	c.963G>A	c.(961-963)agG>agA	p.R321R	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	321					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.R321R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAACATTGAACCTTAGGATCT	0.323																																						uc003phn.3																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(1)	6						c.(961-963)AGG>AGA		sialin							40.0	40.0	40.0					6																	74331542		2203	4300	6503	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331542C>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.963G>A	6.37:g.74331542C>T						SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.R190R	p.R321R	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			7	1091	-			321					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.963G>A	CCDS4981.1																																																																																				PASS	0.323	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			15	29	15	29	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79752705	79752705	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:79752705G>A	ENST00000275034.4	-	7	622	c.455C>T	c.(454-456)tCa>tTa	p.S152L		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	152					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.S152L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CAGCTTCCTTGAAAACAGAGT	0.353																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(454-456)TCA>TTA		pleckstrin homology domain interacting protein							127.0	128.0	127.0					6																	79752705		2203	4299	6502	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79752705G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.455C>T	6.37:g.79752705G>A	ENSP00000275034:p.Ser152Leu					PHIP_uc011dyp.1_Missense_Mutation_p.S152L	p.S152L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	7	681	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	152					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.455C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626998	0.66901	.	.	ENSG00000146247	ENST00000275034	T	0.17528	2.27	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);	0.118179	0.38111	N	0.001806	T	0.03783	0.0107	N	0.11064	0.09	0.58432	D	0.999997	P;P	0.34662	0.462;0.462	B;B	0.26094	0.066;0.066	T	0.40232	-0.9574	9	.	.	.	-9.7093	17.2091	0.86926	0.0:0.0:1.0:0.0	.	152;152	A7J992;Q8WWQ0	.;PHIP_HUMAN	L	152	ENSP00000275034:S152L	.	S	-	2	0	PHIP	79809424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.293000	0.77203	0.563000	0.77884	TCA		PASS	0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			142	140	142	140	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129775399	129775399	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr6:129775399G>A	ENST00000421865.2	+	47	6722	c.6673G>A	c.(6673-6675)Gat>Aat	p.D2225N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2225	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D2225N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGACTATTGATGACTCATA	0.368																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(6673-6675)GAT>AAT		laminin alpha 2 subunit isoform a precursor							143.0	119.0	127.0					6																	129775399		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129775399G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6673G>A	6.37:g.129775399G>A	ENSP00000400365:p.Asp2225Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.D2225N	p.D2225N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	46	6778	+			2225			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6673G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.125982	0.37533	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.36878	1.23	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.095657	0.64402	D	0.000001	T	0.07188	0.0182	N	0.03999	-0.3	0.45541	D	0.998491	B;B	0.22480	0.07;0.07	B;B	0.23419	0.046;0.046	T	0.26503	-1.0101	10	0.11794	T	0.64	.	10.4655	0.44604	0.144:0.0:0.856:0.0	.	2226;2225	A6NF00;P24043	.;LAMA2_HUMAN	N	2225;2224;2225;243	ENSP00000400365:D2225N	ENSP00000346769:D2224N	D	+	1	0	LAMA2	129817092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.148000	0.50647	2.750000	0.94351	0.585000	0.79938	GAT		PASS	0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			26	53	26	53	---	---	---	---
FAM20C	56975	broad.mit.edu	37	7	195587	195587	+	Silent	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:195587C>G	ENST00000313766.5	+	2	870	c.639C>G	c.(637-639)ctC>ctG	p.L213L	AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	213					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)	p.L213L(1)		endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CAGAATTCCTCTCCCCCGGGG	0.612																																						uc003sip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)CTC>CTG		family with sequence similarity 20, member C							41.0	45.0	44.0					7																	195587		2056	4175	6231	SO:0001819	synonymous_variant	56975					extracellular region		g.chr7:195587C>G	BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.639C>G	7.37:g.195587C>G							p.L213L	NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)	2	870	+		Ovarian(82;0.0112)	213					A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	ENST00000313766.5	37	c.639C>G	CCDS47522.1																																																																																				PASS	0.612	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		10	16	10	16	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21584665	21584665	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:21584665G>A	ENST00000409508.3	+	2	424	c.393G>A	c.(391-393)aaG>aaA	p.K131K	DNAH11_ENST00000328843.6_Silent_p.K131K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	131	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.K131K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATTTCCAAGAAGATTACTG	0.343									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(391-393)AAG>AAA		dynein, axonemal, heavy chain 11							90.0	86.0	87.0					7																	21584665		1816	4084	5900	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21584665G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.393G>A	7.37:g.21584665G>A							p.K131K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			2	424	+			131			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.393G>A																																																																																					PASS	0.343	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	5	10	5	---	---	---	---
FAM126A	84668	broad.mit.edu	37	7	23018024	23018024	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:23018024C>A	ENST00000432176.2	-	4	429	c.197G>T	c.(196-198)aGt>aTt	p.S66I	FAM126A_ENST00000409923.1_Missense_Mutation_p.S66I|FAM126A_ENST00000409763.1_Missense_Mutation_p.S66I	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	66					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.S66I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CTCCTCTCCACTGCGATAGAA	0.423																																						uc003svm.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(196-198)AGT>ATT		family with sequence similarity 126, member A							64.0	60.0	62.0					7																	23018024		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23018024C>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.197G>T	7.37:g.23018024C>A	ENSP00000403396:p.Ser66Ile					FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Missense_Mutation_p.S32I	p.S66I	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			4	452	-			66					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.197G>T	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.158069|5.158069	0.94686|0.94686	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000432176;ENST00000409923;ENST00000409763|ENST00000440481	D;D;D|.	0.83837|.	-1.77;-1.77;-1.77|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.037541|.	0.85682|.	D|.	0.000000|.	D|D	0.83830|0.83830	0.5339|0.5339	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.71656|.	0.974;0.952|.	D|D	0.84288|0.84288	0.0498|0.0498	10|5	0.87932|.	D|.	0|.	-0.0084|-0.0084	20.1951|20.1951	0.98241|0.98241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	66;66|.	B8ZZJ1;Q9BYI3|.	.;HYCCI_HUMAN|.	I|L	66|118	ENSP00000403396:S66I;ENSP00000386246:S66I;ENSP00000386624:S66I|.	ENSP00000386624:S66I|.	S|V	-|-	2|1	0|0	FAM126A|FAM126A	22984549|22984549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.037000|6.037000	0.70956|0.70956	2.780000|2.780000	0.95670|0.95670	0.585000|0.585000	0.79938|0.79938	AGT|GTG		PASS	0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		26	12	26	12	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37264527	37264527	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:37264527C>A	ENST00000310758.4	-	9	1305	c.658G>T	c.(658-660)Gcg>Tcg	p.A220S	ELMO1_ENST00000442504.1_Missense_Mutation_p.A220S|ELMO1_ENST00000448602.1_Missense_Mutation_p.A220S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	220					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A220S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCTCCTGCGCCACTTTCTGG	0.527																																						uc003tfk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(658-660)GCG>TCG		engulfment and cell motility 1 isoform 1							131.0	111.0	118.0					7																	37264527		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264527C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.658G>T	7.37:g.37264527C>A	ENSP00000312185:p.Ala220Ser					ELMO1_uc011kbc.1_Missense_Mutation_p.A124S|ELMO1_uc010kxg.1_Missense_Mutation_p.A220S	p.A220S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			9	965	-			220					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.658G>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749690	0.49257	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.52295	0.67;0.67;0.67	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.16307	0.4	0.80722	D	1	B	0.32653	0.379	B	0.42882	0.401	T	0.13602	-1.0503	10	0.09843	T	0.71	.	19.5556	0.95345	0.0:1.0:0.0:0.0	.	220	Q92556	ELMO1_HUMAN	S	220;124;220;220	ENSP00000312185:A220S;ENSP00000406952:A220S;ENSP00000394458:A220S	ENSP00000312185:A220S	A	-	1	0	ELMO1	37231052	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.916000	0.69981	2.693000	0.91896	0.655000	0.94253	GCG		PASS	0.527	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		61	22	61	22	---	---	---	---
RALA	5898	broad.mit.edu	37	7	39729980	39729980	+	Splice_Site	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:39729980G>A	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						ATCTTTTCTAGTTTGTGGAGG	0.358																																						uc003thd.2																			1	Unknown(1)		lung(1)	lung(1)|skin(1)	2						c.e3-1		ras related v-ral simian leukemia viral oncogene							56.0	61.0	59.0					7																	39729980		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39729980G>A		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.115-1G>A	7.37:g.39729980G>A							p.F39_splice	NM_005402	NP_005393	P11233	RALA_HUMAN			3	415	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37	c.115_splice	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175397	0.78564	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2665	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39696505	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.601000	0.98297	2.545000	0.85829	0.462000	0.41574	.		PASS	0.358	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	52	51	52	51	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44228546	44228546	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:44228546C>A	ENST00000403799.3	-	1	476	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	GCK_ENST00000476008.1_Intron|GCK_ENST00000437084.1_Missense_Mutation_p.D3Y	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	3					calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.D3Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCTCTGTCGTCCAGCATCTGC	0.597																																						uc003tkl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)	4						c.(7-9)GAC>TAC		glucokinase isoform 1							107.0	78.0	88.0					7																	44228546		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44228546C>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.7G>T	7.37:g.44228546C>A	ENSP00000384247:p.Asp3Tyr						p.D3Y	NM_000162	NP_000153	P35557	HXK4_HUMAN			1	477	-			3					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.7G>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925438	0.52759	.	.	ENSG00000106633	ENST00000403799;ENST00000437084	D;D	0.97378	-4.36;-4.36	5.32	5.32	0.75619	.	.	.	.	.	D	0.96068	0.8719	N	0.08118	0	0.26981	N	0.965353	D	0.76494	0.999	D	0.77557	0.99	D	0.91294	0.5061	9	0.87932	D	0	.	14.8382	0.70201	0.0:1.0:0.0:0.0	.	3	P35557	HXK4_HUMAN	Y	3	ENSP00000384247:D3Y;ENSP00000402840:D3Y	ENSP00000384247:D3Y	D	-	1	0	GCK	44195071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.867000	0.56047	2.637000	0.89404	0.563000	0.77884	GAC		PASS	0.597	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			9	27	9	27	---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50121417	50121417	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:50121417A>T	ENST00000046087.2	-	3	356	c.287T>A	c.(286-288)aTa>aAa	p.I96K	ZPBP_ENST00000419417.1_Missense_Mutation_p.I96K	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	96					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.I96K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGATGGGTCTATCAGTTCAGC	0.348																																						uc003tou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)ATA>AAA		zona pellucida binding protein isoform 1							134.0	125.0	128.0					7																	50121417		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121417A>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.287T>A	7.37:g.50121417A>T	ENSP00000046087:p.Ile96Lys					ZPBP_uc011kci.1_Missense_Mutation_p.I22K|ZPBP_uc010kyw.2_Missense_Mutation_p.I96K	p.I96K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	357	-	Glioma(55;0.08)|all_neural(89;0.245)		96					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.287T>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155025	0.78114	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.58652	0.32;0.32;0.32	5.1	5.1	0.69264	Immunoglobulin-like (1);	0.217813	0.31031	N	0.008389	T	0.69842	0.3156	M	0.62723	1.935	0.49051	D	0.999747	D;D	0.62365	0.991;0.991	D;D	0.64877	0.93;0.93	T	0.70443	-0.4870	9	.	.	.	-7.1607	12.4098	0.55461	1.0:0.0:0.0:0.0	.	96;96	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	K	96;96;57	ENSP00000046087:I96K;ENSP00000402071:I96K;ENSP00000390054:I57K	.	I	-	2	0	ZPBP	50091963	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	4.916000	0.63362	1.925000	0.55765	0.377000	0.23210	ATA		PASS	0.348	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		28	17	28	17	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73774519	73774519	+	Silent	SNP	C	C	T	rs564040624		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:73774519C>T	ENST00000395060.1	+	6	1230	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	CLIP2_ENST00000223398.6_Silent_p.A410A|CLIP2_ENST00000361545.5_Silent_p.A410A			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	410						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.A410A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TTGCAGAAGCCGAGGAGAAGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20210	0.0		0.0	False		,,,				2504	0.0					uc003uam.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1228-1230)GCC>GCT		CAP-GLY domain containing linker protein 2							46.0	45.0	45.0					7																	73774519		2202	4299	6501	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73774519C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1230C>T	7.37:g.73774519C>T						CLIP2_uc003uan.2_Silent_p.A410A	p.A410A	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			7	1557	+			410			Potential.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1230C>T	CCDS5569.1																																																																																				PASS	0.637	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	11	7	11	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74103545	74103545	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:74103545C>T	ENST00000324896.4	+	2	472	c.83C>T	c.(82-84)tCa>tTa	p.S28L	GTF2I_ENST00000443166.1_Missense_Mutation_p.S28L|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.S28L|GTF2I_ENST00000346152.4_Missense_Mutation_p.S28L|GTF2I_ENST00000416070.1_Missense_Mutation_p.S28L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	28					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S28L(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCTCATGTCAGCTCTCGAG	0.498																																						uc003uau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TCA>TTA		general transcription factor IIi isoform 1							107.0	84.0	91.0					7																	74103545		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74103545C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.83C>T	7.37:g.74103545C>T	ENSP00000322542:p.Ser28Leu					GTF2I_uc003uat.2_Missense_Mutation_p.S28L|GTF2I_uc003uav.2_Missense_Mutation_p.S28L|GTF2I_uc003uaw.2_Missense_Mutation_p.S28L|GTF2I_uc003uay.2_Missense_Mutation_p.S28L|GTF2I_uc003uax.2_Missense_Mutation_p.S28L	p.S28L	NM_032999	NP_127492	P78347	GTF2I_HUMAN			2	453	+			28					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.83C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585868	0.86748	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.59083	0.76;0.83;0.82;0.87;0.29	5.11	5.11	0.69529	.	0.102278	0.43260	D	0.000581	T	0.75517	0.3860	M	0.77103	2.36	0.51767	D	0.999937	P;D;D;P;D;D	0.71674	0.799;0.995;0.981;0.728;0.985;0.998	B;P;D;B;D;D	0.69142	0.194;0.901;0.962;0.272;0.921;0.948	T	0.79006	-0.1979	10	0.87932	D	0	-17.7165	15.6218	0.76813	0.0:1.0:0.0:0.0	.	28;28;28;28;28;28	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	L	28;23;28;28;28;28;28	ENSP00000322542:S28L;ENSP00000322671:S28L;ENSP00000322599:S28L;ENSP00000387651:S28L;ENSP00000404240:S28L	ENSP00000322542:S28L	S	+	2	0	GTF2I	73741481	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.739000	0.62080	2.532000	0.85374	0.655000	0.94253	TCA		PASS	0.498	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		10	45	10	45	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81643795	81643795	+	Splice_Site	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:81643795C>A	ENST00000356253.5	-	13	1399	c.1144G>T	c.(1144-1146)Gta>Tta	p.V382L	CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000356860.3_Splice_Site_p.V382L|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V382L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AATACACGTACCTGGATGAAT	0.333																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1144-1146)GTA>TTA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						73.0	70.0	71.0					7																	81643795		2203	4300	6503	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81643795C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1144-1G>T	7.37:g.81643795C>A						uc003uhs.1_Intron	p.V382L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			13	1400	-			382			Extracellular (Potential).|VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1144G>T		.	.	.	.	.	.	.	.	.	.	C	19.11	3.763948	0.69878	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.16743	2.32;2.32	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	M	0.85777	2.775	0.80722	D	1	P	0.42375	0.778	B	0.42798	0.398	T	0.34329	-0.9833	10	0.72032	D	0.01	-17.7403	17.5849	0.87978	0.0:1.0:0.0:0.0	.	382	P54289-2	.	L	382	ENSP00000349320:V382L;ENSP00000348589:V382L	ENSP00000284088:V382L	V	-	1	0	CACNA2D1	81481731	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.359000	0.79477	2.451000	0.82905	0.305000	0.20034	GTA		PASS	0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	10	33	10	33	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100453423	100453423	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:100453423G>A	ENST00000354161.3	+	4	537	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	SLC12A9_ENST00000428758.1_Missense_Mutation_p.G138R|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G138R|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	138					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.G138R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCCTCCTGGGGCTGGTGGA	0.617																																						uc003uwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GGG>AGG		solute carrier family 12 (potassium/chloride							145.0	124.0	131.0					7																	100453423		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100453423G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.412G>A	7.37:g.100453423G>A	ENSP00000275730:p.Gly138Arg					SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank|SLC12A9_uc003uwv.2_5'Flank	p.G138R	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			4	554	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		138			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.412G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391462	0.83011	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161	D;D;D	0.98862	-5.19;-5.19;-5.19	4.08	4.08	0.47627	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98376	1.0556	10	0.87932	D	0	.	11.6131	0.51072	0.0:0.0:1.0:0.0	.	138	Q9BXP2	S12A9_HUMAN	R	138	ENSP00000443702:G138R;ENSP00000408301:G138R;ENSP00000275730:G138R	ENSP00000275730:G138R	G	+	1	0	SLC12A9	100291359	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.558000	0.98132	2.096000	0.63516	0.462000	0.41574	GGG		PASS	0.617	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		52	46	52	46	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807347	100807347	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:100807347C>T	ENST00000249330.2	-	2	1017	c.778G>A	c.(778-780)Gag>Aag	p.E260K	VGF_ENST00000445482.2_Missense_Mutation_p.E260K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	260					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.E260K(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCAATGCCTCGCCTAGGTGT	0.697																																						uc003uxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GAG>AAG		VGF nerve growth factor inducible precursor							17.0	21.0	20.0					7																	100807347		2080	4211	6291	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807347C>T	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.778G>A	7.37:g.100807347C>T	ENSP00000249330:p.Glu260Lys						p.E260K	NM_003378	NP_003369	O15240	VGF_HUMAN			2	996	-	Lung NSC(181;0.168)|all_lung(186;0.215)		260					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.778G>A	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454989	0.43634	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.39	4.39	0.52855	.	0.000000	0.40908	D	0.000993	T	0.28995	0.0720	N	0.19112	0.55	0.24774	N	0.99285	B	0.18461	0.028	B	0.14023	0.01	T	0.29640	-1.0005	9	0.87932	D	0	-10.3519	12.3248	0.55005	0.0:1.0:0.0:0.0	.	260	O15240	VGF_HUMAN	K	260	.	ENSP00000249330:E260K	E	-	1	0	VGF	100594067	0.902000	0.30710	0.931000	0.37212	0.918000	0.54935	2.206000	0.42779	2.297000	0.77311	0.561000	0.74099	GAG		PASS	0.697	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		10	42	10	42	---	---	---	---
ING3	54556	broad.mit.edu	37	7	120608024	120608024	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:120608024A>G	ENST00000315870.5	+	8	741	c.593A>G	c.(592-594)aAt>aGt	p.N198S	ING3_ENST00000431467.1_Missense_Mutation_p.N183S	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	198					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.N198S(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCTTCTAACAATGCCTACAAT	0.398																																						uc003vjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)AAT>AGT		inhibitor of growth family, member 3 isoform 1							104.0	103.0	103.0					7																	120608024		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120608024A>G	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.593A>G	7.37:g.120608024A>G	ENSP00000320566:p.Asn198Ser					ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.N198S|ING3_uc011kns.1_Missense_Mutation_p.N183S	p.N198S	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			8	727	+	all_neural(327;0.117)		198					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.593A>G	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	A	5.497	0.276763	0.10403	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.40476	1.03;1.03	6.07	-0.386	0.12466	.	0.127833	0.64402	N	0.000001	T	0.23370	0.0565	L	0.28192	0.835	0.42787	D	0.993889	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22941	-1.0202	10	0.07644	T	0.81	-11.8754	11.2044	0.48760	0.628:0.0:0.372:0.0	.	198;198	Q5GRH6;Q9NXR8	.;ING3_HUMAN	S	198;183	ENSP00000320566:N198S;ENSP00000388506:N183S	ENSP00000320566:N198S	N	+	2	0	ING3	120395260	0.998000	0.40836	0.988000	0.46212	0.903000	0.53119	1.034000	0.30204	-0.278000	0.09180	-0.274000	0.10170	AAT		PASS	0.398	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		45	28	45	28	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131883346	131883346	+	Missense_Mutation	SNP	C	C	A	rs376155203		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:131883346C>A	ENST00000359827.3	-	13	3598	c.2636G>T	c.(2635-2637)cGa>cTa	p.R879L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R879L			Q9HCM2	PLXA4_HUMAN	plexin A4	879	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCCCTCGGATAGTGAC	0.552																																						uc003vra.3																			0				ovary(1)	1						c.(2635-2637)CGA>CTA		plexin A4 isoform 1							73.0	76.0	75.0					7																	131883346		1925	4118	6043	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883346C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2636G>T	7.37:g.131883346C>A	ENSP00000352882:p.Arg879Leu						p.R879L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			13	2865	-			879			IPT/TIG 1.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2636G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145130	0.77888	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.94	5.94	0.96194	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	L	0.46741	1.465	0.80722	D	1	B	0.12630	0.006	B	0.18871	0.023	T	0.67284	-0.5709	10	0.09590	T	0.72	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	879	Q9HCM2	PLXA4_HUMAN	L	879	ENSP00000323194:R879L;ENSP00000352882:R879L	ENSP00000323194:R879L	R	-	2	0	PLXNA4	131533886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.261000	0.51530	2.820000	0.97059	0.650000	0.86243	CGA		PASS	0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	64	3	64	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700855	136700855	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:136700855C>A	ENST00000445907.2	+	3	1771	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P415T|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P415T|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P415T|CHRM2_ENST00000320658.5_Missense_Mutation_p.P415T|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P415T|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	415					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.P415T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTTTGTGCACCTTGCATCCC	0.458																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1243-1245)CCT>ACT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						264.0	214.0	231.0					7																	136700855		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700855C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1243C>A	7.37:g.136700855C>A	ENSP00000399745:p.Pro415Thr					CHRM2_uc003vtg.1_Missense_Mutation_p.P415T|CHRM2_uc003vtj.1_Missense_Mutation_p.P415T|CHRM2_uc003vtk.1_Missense_Mutation_p.P415T|CHRM2_uc003vtl.1_Missense_Mutation_p.P415T|CHRM2_uc003vtm.1_Missense_Mutation_p.P415T|CHRM2_uc003vti.1_Missense_Mutation_p.P415T|CHRM2_uc003vto.1_Missense_Mutation_p.P415T|CHRM2_uc003vtn.1_Missense_Mutation_p.P415T|uc003vtp.1_Intron	p.P415T	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1866	+			415			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1243C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306034	0.05458	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.91	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.678303	0.14995	N	0.286449	T	0.36552	0.0971	N	0.02266	-0.62	0.24946	N	0.991824	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	10	0.21014	T	0.42	-1.1098	1.0207	0.01517	0.3191:0.296:0.2205:0.1645	.	415	P08172	ACM2_HUMAN	T	415	ENSP00000399745:P415T;ENSP00000415386:P415T;ENSP00000319984:P415T;ENSP00000380733:P415T;ENSP00000384937:P415T;ENSP00000384401:P415T	ENSP00000319984:P415T	P	+	1	0	CHRM2	136351395	0.910000	0.30920	1.000000	0.80357	0.966000	0.64601	0.989000	0.29629	0.855000	0.35359	-0.122000	0.15005	CCT		PASS	0.458	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			86	56	86	56	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143095862	143095862	+	Missense_Mutation	SNP	C	C	T	rs145891509		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:143095862C>T	ENST00000275815.3	-	6	1254	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.V390M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAGAAGTGCACGCCCACCCCA	0.612																																						uc003wcz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(1168-1170)GTG>ATG		ephrin receptor EphA1 precursor							52.0	47.0	49.0					7																	143095862		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095862C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1168G>A	7.37:g.143095862C>T	ENSP00000275815:p.Val390Met						p.V390M	NM_005232	NP_005223	P21709	EPHA1_HUMAN			6	1255	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	390			Extracellular (Potential).|Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1168G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366872	0.41902	.	.	ENSG00000146904	ENST00000275815	T	0.58358	0.34	5.09	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123114	0.37136	N	0.002222	T	0.68485	0.3006	M	0.83774	2.66	0.47276	D	0.99937	D	0.62365	0.991	P	0.55923	0.787	T	0.75221	-0.3394	10	0.87932	D	0	.	13.5776	0.61883	0.0:0.9255:0.0:0.0745	.	390	P21709	EPHA1_HUMAN	M	390	ENSP00000275815:V390M	ENSP00000275815:V390M	V	-	1	0	EPHA1	142805984	0.911000	0.30947	0.865000	0.33974	0.054000	0.15201	1.847000	0.39299	1.359000	0.45940	0.655000	0.94253	GTG		PASS	0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			19	22	19	22	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143772025	143772025	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:143772025C>G	ENST00000408898.2	+	1	751	c.713C>G	c.(712-714)tCc>tGc	p.S238C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S238C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AAAGCCTTCTCCATCTGCTCC	0.483																																						uc011ktx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)TCC>TGC		olfactory receptor, family 2, subfamily A,							114.0	123.0	120.0					7																	143772025		2173	4295	6468	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772025C>G		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.713C>G	7.37:g.143772025C>G	ENSP00000386167:p.Ser238Cys						p.S238C	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	713	+	Melanoma(164;0.0783)		238			Helical; Name=6; (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.713C>G	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433804	0.25813	.	.	ENSG00000221933	ENST00000408898	T	0.00314	8.14	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	H	0.97806	4.08	0.32738	N	0.508106	B	0.18968	0.032	B	0.21917	0.037	T	0.01212	-1.1417	9	0.87932	D	0	-14.8122	15.4875	0.75578	0.0:1.0:0.0:0.0	.	238	A4D2G3	O2A25_HUMAN	C	238	ENSP00000386167:S238C	ENSP00000386167:S238C	S	+	2	0	OR2A25	143402958	0.000000	0.05858	1.000000	0.80357	0.577000	0.36160	0.943000	0.29030	2.509000	0.84616	0.563000	0.77884	TCC		PASS	0.483	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			39	89	39	89	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149418023	149418023	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:149418023C>A	ENST00000485033.2	+	3	252	c.252C>A	c.(250-252)gaC>gaA	p.D84E	KRBA1_ENST00000255992.10_Missense_Mutation_p.D84E|KRBA1_ENST00000319551.8_Missense_Mutation_p.D84E|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	84								p.D84E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGCTATGGACAGCCCCGAGA	0.647																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(250-252)GAC>GAA		KRAB A domain containing 1							40.0	48.0	45.0					7																	149418023		2142	4250	6392	SO:0001583	missense	84626							g.chr7:149418023C>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.252C>A	7.37:g.149418023C>A	ENSP00000420112:p.Asp84Glu					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.D84E	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		4	651	+	Melanoma(164;0.165)|Ovarian(565;0.177)		84					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.252C>A		.	.	.	.	.	.	.	.	.	.	C	9.407	1.079610	0.20309	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000497895;ENST00000485033	T;T;T	0.34072	1.38;1.38;1.38	3.64	-3.69	0.04450	.	0.215967	0.23340	N	0.049246	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	P	0.42203	0.773	B	0.32289	0.143	T	0.45056	-0.9287	10	0.15952	T	0.53	-9.5443	5.534	0.17001	0.0:0.2607:0.1731:0.5662	.	84	A5PL33	KRBA1_HUMAN	E	84	ENSP00000255992:D84E;ENSP00000317165:D84E;ENSP00000420112:D84E	ENSP00000255992:D84E	D	+	3	2	KRBA1	149048956	0.000000	0.05858	0.005000	0.12908	0.223000	0.24884	-0.550000	0.06034	-0.714000	0.04975	-0.137000	0.14449	GAC		PASS	0.647	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		22	16	22	16	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154587594	154587594	+	Splice_Site	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr7:154587594G>T	ENST00000377770.3	+	12	1440		c.e12+1		DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000404039.1_Splice_Site			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.?(3)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACAGACAGGTAACTACTGC	0.478																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Unknown(3)		lung(3)	pancreas(3)|breast(1)	4						c.e12+1		dipeptidyl-peptidase 6 isoform 1							49.0	54.0	52.0					7																	154587594		1958	4148	6106	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154587594G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1299+1G>T	7.37:g.154587594G>T						DPP6_uc003wli.2_Splice_Site_p.Q369_splice|DPP6_uc003wlm.2_Splice_Site_p.Q371_splice|DPP6_uc011kvq.1_Splice_Site_p.Q326_splice	p.Q433_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		12	1428	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)							Splice_Site	SNP	ENST00000377770.3	37	c.1299_splice		.	.	.	.	.	.	.	.	.	.	G	22.5	4.296306	0.81025	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0428	0.89323	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP6	154218527	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.754000	0.91642	2.362000	0.80069	0.561000	0.74099	.		PASS	0.478	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Intron	6	3	6	3	---	---	---	---
ERI1	90459	broad.mit.edu	37	8	8873831	8873831	+	Splice_Site	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:8873831G>T	ENST00000523898.1	+	5	1177		c.e5-1		ERI1_ENST00000520332.1_Splice_Site|ERI1_ENST00000250263.7_Splice_Site|ERI1_ENST00000519292.1_Splice_Site			Q8IV48	ERI1_HUMAN	exoribonuclease 1						gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.?(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TTCCCTTGCAGGAAGACACGT	0.373																																						uc011kwu.1																			1	Unknown(1)		lung(1)		0						c.e4-1		three prime histone mRNA exonuclease 1	Adenosine monophosphate(DB00131)						145.0	145.0	145.0					8																	8873831		2203	4300	6503	SO:0001630	splice_region_variant	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8873831G>T	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.499-1G>T	8.37:g.8873831G>T						ERI1_uc003wsk.2_Splice_Site_p.E167_splice	p.E167_splice	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN			4	759	+								A8K4U7|Q9NSX3	Splice_Site	SNP	ENST00000523898.1	37	c.499_splice	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660051	0.67586	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7667	0.91876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERI1	8911241	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	9.869000	0.99810	2.667000	0.90743	0.563000	0.77884	.		PASS	0.373	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332	Intron	78	96	78	96	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10480563	10480563	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:10480563C>T	ENST00000382483.3	-	2	372	c.149G>A	c.(148-150)cGc>cAc	p.R50H	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	50	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.R50H(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACGGCCAGGCGGACCCCAGC	0.637																																						uc003wtc.2																			2	Substitution - Missense(2)	p.R50H(1)	lung(1)|central_nervous_system(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(148-150)CGC>CAC		retinitis pigmentosa 1-like 1							38.0	44.0	42.0					8																	10480563		2107	4207	6314	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480563C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.149G>A	8.37:g.10480563C>T	ENSP00000371923:p.Arg50His						p.R50H	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	378	-			50					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.149G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	19.44	3.827321	0.71143	.	.	ENSG00000183638	ENST00000382483	D	0.88046	-2.33	4.65	3.77	0.43336	.	.	.	.	.	D	0.91192	0.7225	M	0.75615	2.305	0.36063	D	0.841583	D	0.89917	1.0	D	0.79784	0.993	D	0.91848	0.5489	9	0.87932	D	0	-19.592	5.7213	0.17988	0.0:0.6918:0.0:0.3082	.	50	A6NKC6	.	H	50	ENSP00000371923:R50H	ENSP00000371923:R50H	R	-	2	0	RP1L1	10517973	1.000000	0.71417	0.993000	0.49108	0.830000	0.47004	0.747000	0.26290	1.180000	0.42898	0.457000	0.33378	CGC		PASS	0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			31	42	31	42	---	---	---	---
BLK	640	broad.mit.edu	37	8	11414226	11414226	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:11414226C>G	ENST00000259089.4	+	9	1424	c.832C>G	c.(832-834)Cca>Gca	p.P278A	RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.P207A|RP11-148O21.2_ENST00000533322.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P278A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AACCATGTCTCCAGAAGCCTT	0.537																																						uc003wty.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(832-834)CCA>GCA		B lymphoid tyrosine kinase							108.0	88.0	95.0					8																	11414226		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11414226C>G	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.832C>G	8.37:g.11414226C>G	ENSP00000259089:p.Pro278Ala					BLK_uc003wtz.2_Missense_Mutation_p.P207A	p.P278A	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	9	1413	+			278			Protein kinase.		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.832C>G	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.062869	0.07273	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.81821	-1.54;-1.54	3.53	1.64	0.23874	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43416	D	0.000565	T	0.56630	0.1998	N	0.03304	-0.355	0.21105	N	0.999781	B	0.18610	0.029	B	0.21917	0.037	T	0.50816	-0.8783	10	0.49607	T	0.09	.	6.7745	0.23613	0.1751:0.7285:0.0:0.0964	.	278	P51451	BLK_HUMAN	A	278;278;207	ENSP00000259089:P278A;ENSP00000433663:P207A	ENSP00000259089:P278A	P	+	1	0	BLK	11451635	0.002000	0.14202	0.262000	0.24481	0.057000	0.15508	1.407000	0.34657	0.275000	0.22094	0.455000	0.32223	CCA		PASS	0.537	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			40	50	40	50	---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22107639	22107639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:22107639C>T	ENST00000397802.4	+	7	1188	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	POLR3D_ENST00000306433.4_Nonsense_Mutation_p.Q325*			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	325					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Q325*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACAGAGGGTCAGGTTGGCAA	0.562																																						uc003xbl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(973-975)CAG>TAG		polymerase (RNA) III (DNA directed) polypeptide							84.0	79.0	81.0					8																	22107639		2203	4300	6503	SO:0001587	stop_gained	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22107639C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.973C>T	8.37:g.22107639C>T	ENSP00000380904:p.Gln325*					POLR3D_uc003xbm.2_Nonsense_Mutation_p.Q325*|POLR3D_uc011kze.1_RNA	p.Q325*	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	8	1056	+			325					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Nonsense_Mutation	SNP	ENST00000397802.4	37	c.973C>T	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	36	5.948003	0.97134	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	5.41	0.78517	.	0.177474	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-25.8162	17.9601	0.89083	0.0:1.0:0.0:0.0	.	.	.	.	X	325	.	ENSP00000303088:Q325X	Q	+	1	0	POLR3D	22163584	0.992000	0.36948	0.985000	0.45067	0.899000	0.52679	3.012000	0.49575	2.520000	0.84964	0.561000	0.74099	CAG		PASS	0.562	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		36	42	36	42	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53092850	53092850	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:53092850C>A	ENST00000276480.7	-	9	792	c.109G>T	c.(109-111)Gca>Tca	p.A37S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	37					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.A37S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCTTCTTTGCCATGGAGCAA	0.418																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(109-111)GCA>TCA		suppression of tumorigenicity 18							157.0	148.0	151.0					8																	53092850		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092850C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.109G>T	8.37:g.53092850C>A	ENSP00000276480:p.Ala37Ser					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.A2S|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.A37S|ST18_uc003xrb.2_Missense_Mutation_p.A37S|ST18_uc010lyb.2_RNA	p.A37S	NM_014682	NP_055497	O60284	ST18_HUMAN			4	265	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	37					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.109G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251885	0.22880	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.58940	0.42;0.3	5.64	3.86	0.44501	.	0.212508	0.49305	D	0.000160	T	0.49847	0.1581	L	0.58669	1.825	0.39813	D	0.972732	B	0.12630	0.006	B	0.16722	0.016	T	0.46233	-0.9206	10	0.40728	T	0.16	0.0077	7.0955	0.25307	0.1387:0.7199:0.0:0.1413	.	37	O60284	ST18_HUMAN	S	37	ENSP00000276480:A37S;ENSP00000428521:A37S	ENSP00000276480:A37S	A	-	1	0	ST18	53255403	1.000000	0.71417	0.098000	0.21074	0.342000	0.28953	3.943000	0.56621	0.760000	0.33108	0.655000	0.94253	GCA		PASS	0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			80	109	80	109	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655236	61655236	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:61655236G>A	ENST00000423902.2	+	2	1724	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	CHD7_ENST00000525508.1_Silent_p.P415P|CHD7_ENST00000524602.1_Silent_p.P415P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	415	Pro-rich.				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.P415P(4)		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)			AAGTCAGGCCGGGAAGTGCTG	0.547																																						uc003xue.2																			4	Substitution - coding silent(4)		lung(4)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1243-1245)CCG>CCA		chromodomain helicase DNA binding protein 7							113.0	114.0	114.0					8																	61655236		2032	4181	6213	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.chr8:61655236G>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.1245G>A	8.37:g.61655236G>A							p.P415P	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1722	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	415			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.1245G>A	CCDS47865.1																																																																																				PASS	0.547	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		19	105	19	105	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68178322	68178322	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:68178322G>A	ENST00000262215.3	-	14	2431	c.2042C>T	c.(2041-2043)aCa>aTa	p.T681I	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T135I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	681					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.T681I(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGACATCTGTGTACTGTAGCT	0.378																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(2041-2043)ACA>ATA		brefeldin A-inhibited guanine							176.0	160.0	165.0					8																	68178322		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178322G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2042C>T	8.37:g.68178322G>A	ENSP00000262215:p.Thr681Ile					ARFGEF1_uc003xxl.1_Missense_Mutation_p.T135I	p.T681I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2432	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	681					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2042C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949707	0.73787	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.22539	2.8;1.95	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.54323	1.7	0.80722	D	1	B;B	0.33135	0.399;0.08	B;B	0.28553	0.091;0.027	T	0.02190	-1.1198	10	0.49607	T	0.09	.	19.5844	0.95485	0.0:0.0:1.0:0.0	.	681;135	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	I	135;681	ENSP00000428429:T135I;ENSP00000262215:T681I	ENSP00000262215:T681I	T	-	2	0	ARFGEF1	68340876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.771000	0.98977	2.638000	0.89438	0.585000	0.79938	ACA		PASS	0.378	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		32	50	32	50	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95189937	95189937	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:95189937G>C	ENST00000027335.3	-	4	287	c.163C>G	c.(163-165)Cct>Gct	p.P55A	CDH17_ENST00000441892.2_Missense_Mutation_p.P55A|CDH17_ENST00000450165.2_Missense_Mutation_p.P55A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P55A(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACAGCAGGAGGATTGGCCTTA	0.393																																						uc003ygh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(163-165)CCT>GCT		cadherin 17 precursor							98.0	93.0	95.0					8																	95189937		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189937G>C	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.163C>G	8.37:g.95189937G>C	ENSP00000027335:p.Pro55Ala					CDH17_uc011lgo.1_Missense_Mutation_p.P55A|CDH17_uc011lgp.1_Missense_Mutation_p.P55A	p.P55A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	288	-	Breast(36;4.65e-06)		55			Extracellular (Potential).|Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.163C>G	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947117	0.34377	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60424	0.36;0.36;0.36;0.19	5.85	2.97	0.34412	Cadherin (2);Cadherin-like (1);	0.117964	0.39020	N	0.001496	T	0.37679	0.1012	L	0.33485	1.01	0.27954	N	0.937044	B;B	0.15930	0.015;0.014	B;B	0.14578	0.011;0.005	T	0.16512	-1.0400	10	0.08599	T	0.76	-4.8069	6.8201	0.23852	0.0755:0.1255:0.6702:0.1288	.	55;55	E7EN24;Q12864	.;CAD17_HUMAN	A	55	ENSP00000027335:P55A;ENSP00000392811:P55A;ENSP00000401468:P55A;ENSP00000428189:P55A	ENSP00000027335:P55A	P	-	1	0	CDH17	95259113	0.383000	0.25156	0.920000	0.36463	0.982000	0.71751	0.502000	0.22594	1.481000	0.48307	0.563000	0.77884	CCT		PASS	0.393	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		29	31	29	31	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120633675	120633675	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:120633675G>C	ENST00000075322.6	-	4	435	c.377C>G	c.(376-378)gCc>gGc	p.A126G	ENPP2_ENST00000427067.2_Missense_Mutation_p.A122G|ENPP2_ENST00000259486.6_Missense_Mutation_p.A126G|ENPP2_ENST00000522826.1_Missense_Mutation_p.A126G	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	126	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A126G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCTCCCCTGGCCAAGCAGTC	0.468																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(376-378)GCC>GGC		autotaxin isoform 2 preproprotein							114.0	108.0	110.0					8																	120633675		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120633675G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.377C>G	8.37:g.120633675G>C	ENSP00000075322:p.Ala126Gly					ENPP2_uc003yos.1_Missense_Mutation_p.A126G|ENPP2_uc010mdd.1_Missense_Mutation_p.A126G	p.A126G	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	463	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		126			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.377C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401176	0.42613	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.6	3.82	0.43975	Somatomedin B domain (4);	0.612471	0.18161	N	0.149764	T	0.30039	0.0752	N	0.22421	0.69	0.20764	N	0.999859	B;B;B	0.20052	0.041;0.033;0.015	B;B;B	0.30105	0.111;0.111;0.036	T	0.23476	-1.0187	10	0.32370	T	0.25	.	9.2051	0.37285	0.1377:0.1281:0.7342:0.0	.	126;126;126	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	G	126;122;126;126;108	ENSP00000259486:A126G;ENSP00000403315:A122G;ENSP00000428291:A126G;ENSP00000075322:A126G;ENSP00000428304:A108G	ENSP00000075322:A126G	A	-	2	0	ENPP2	120702856	1.000000	0.71417	0.660000	0.29694	0.961000	0.63080	3.700000	0.54786	0.865000	0.35603	0.650000	0.86243	GCC		PASS	0.468	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			36	51	36	51	---	---	---	---
NDUFB9	4715	broad.mit.edu	37	8	125562116	125562116	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:125562116C>T	ENST00000276689.3	+	4	607	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	NDUFB9_ENST00000517367.1_Missense_Mutation_p.R164W|NDUFB9_ENST00000522532.1_Intron|NDUFB9_ENST00000517830.1_Intron	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	175					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R175W(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACCAGACCCCGGGAGCGGCC	0.488																																						uc003yrg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(523-525)CGG>TGG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						52.0	50.0	50.0					8																	125562116		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125562116C>T	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.523C>T	8.37:g.125562116C>T	ENSP00000276689:p.Arg175Trp					NDUFB9_uc011lim.1_Intron	p.R175W	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	608	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		175					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.523C>T	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917922	0.73098	.	.	ENSG00000147684	ENST00000276689;ENST00000517367	T;T	0.74737	-0.87;-0.84	5.01	5.01	0.66863	.	0.058639	0.64402	D	0.000003	D	0.85287	0.5662	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.86099	0.1555	10	0.54805	T	0.06	-20.6385	18.6668	0.91493	0.0:1.0:0.0:0.0	.	175	Q9Y6M9	NDUB9_HUMAN	W	175;164	ENSP00000276689:R175W;ENSP00000430322:R164W	ENSP00000276689:R175W	R	+	1	2	NDUFB9	125631297	0.998000	0.40836	1.000000	0.80357	0.773000	0.43773	2.062000	0.41413	2.495000	0.84180	0.313000	0.20887	CGG		PASS	0.488	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		28	35	28	35	---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145619352	145619352	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:145619352T>C	ENST00000349769.3	-	34	3929	c.3835A>G	c.(3835-3837)Atg>Gtg	p.M1279V	CPSF1_ENST00000531727.1_5'UTR|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1279					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.M1279V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATGTACACCATGAGGTTGCGG	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3835-3837)ATG>GTG		cleavage and polyadenylation specific factor 1,							33.0	34.0	33.0					8																	145619352		2201	4299	6500	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145619352T>C	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3835A>G	8.37:g.145619352T>C	ENSP00000339353:p.Met1279Val						p.M1279V	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		34	3910	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1279					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3835A>G	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	4.237	0.042930	0.08196	.	.	ENSG00000071894	ENST00000349769	T	0.38722	1.12	5.36	5.36	0.76844	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.214708	0.46145	D	0.000303	T	0.18299	0.0439	N	0.02142	-0.665	0.37458	D	0.915102	B	0.06786	0.001	B	0.04013	0.001	T	0.17258	-1.0375	10	0.17369	T	0.5	-49.0646	13.2903	0.60267	0.0:0.0:0.0:1.0	.	1279	Q10570	CPSF1_HUMAN	V	1279	ENSP00000339353:M1279V	ENSP00000339353:M1279V	M	-	1	0	CPSF1	145590160	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	1.603000	0.36794	2.033000	0.60031	0.454000	0.30748	ATG		PASS	0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		18	23	18	23	---	---	---	---
LRRC24	441381	broad.mit.edu	37	8	145748500	145748500	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:145748500C>G	ENST00000529415.2	-	5	1018	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E298Q|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	301	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.E301Q(1)		breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCCGGCCCTCGCGAGGCTGG	0.692																																						uc003zdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GAG>CAG		leucine rich repeat containing 24 precursor							10.0	12.0	11.0					8																	145748500		2146	4251	6397	SO:0001583	missense	441381					integral to membrane		g.chr8:145748500C>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.901G>C	8.37:g.145748500C>G	ENSP00000434849:p.Glu301Gln					LRRC24_uc003zdn.2_Missense_Mutation_p.E298Q|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	p.E301Q	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1033	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		301			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000529415.2	37	c.901G>C	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	3.848	-0.032460	0.07543	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.67171	-0.25;-0.25	4.67	1.74	0.24563	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.020540	0.07777	N	0.952743	T	0.40119	0.1104	N	0.11284	0.12	0.09310	N	1	B;P	0.41265	0.082;0.744	B;B	0.38106	0.024;0.265	T	0.27971	-1.0058	10	0.13853	T	0.58	.	3.0342	0.06116	0.1954:0.5178:0.0:0.2868	.	298;301	G3V1D8;Q50LG9	.;LRC24_HUMAN	Q	301;298	ENSP00000434849:E301Q;ENSP00000435653:E298Q	ENSP00000434849:E301Q	E	-	1	0	LRRC24	145719308	0.000000	0.05858	0.350000	0.25708	0.225000	0.24961	0.583000	0.23849	1.191000	0.43056	-0.409000	0.06214	GAG		PASS	0.692	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		9	16	9	16	---	---	---	---
FOCAD	54914	broad.mit.edu	37	9	20912887	20912887	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr9:20912887T>C	ENST00000380249.1	+	25	3105	c.2741T>C	c.(2740-2742)tTg>tCg	p.L914S	FOCAD_ENST00000338382.6_Missense_Mutation_p.L914S|FOCAD_ENST00000605086.1_Missense_Mutation_p.L350S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	914						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.L914S(1)									GAGCTGGAGTTGCAGTTAAAA	0.418																																						uc003zog.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(2740-2742)TTG>TCG		hypothetical protein LOC54914							110.0	106.0	107.0					9																	20912887		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20912887T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2741T>C	9.37:g.20912887T>C	ENSP00000369599:p.Leu914Ser					KIAA1797_uc003zoh.1_Missense_Mutation_p.L350S	p.L914S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	25	3104	+			914					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2741T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955744	0.73902	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08282	3.11;3.11	5.63	5.63	0.86233	Armadillo-type fold (1);	0.094387	0.64402	D	0.000001	T	0.11153	0.0272	L	0.40543	1.245	0.37217	D	0.905052	P	0.50272	0.933	P	0.44860	0.462	T	0.03852	-1.0998	10	0.72032	D	0.01	-34.9051	14.3775	0.66889	0.0:0.0:0.0:1.0	.	914	Q5VW36	K1797_HUMAN	S	914	ENSP00000369599:L914S;ENSP00000344307:L914S	ENSP00000344307:L914S	L	+	2	0	KIAA1797	20902887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.998000	0.63927	2.281000	0.76405	0.533000	0.62120	TTG		PASS	0.418	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		30	10	30	10	---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86591925	86591925	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr9:86591925C>G	ENST00000376264.2	-	5	456	c.198G>C	c.(196-198)aaG>aaC	p.K66N	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.K66N|HNRNPK_ENST00000360384.5_Missense_Mutation_p.K66N|HNRNPK_ENST00000376281.4_Missense_Mutation_p.K66N|HNRNPK_ENST00000376263.3_Missense_Mutation_p.K66N	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	66	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.K66N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TACGGAGAGCCTTAATATTCT	0.343																																						uc004ang.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(196-198)AAG>AAC		heterogeneous nuclear ribonucleoprotein K							85.0	84.0	84.0					9																	86591925		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86591925C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.198G>C	9.37:g.86591925C>G	ENSP00000365440:p.Lys66Asn					HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Missense_Mutation_p.K66N|HNRNPK_uc004anf.3_Missense_Mutation_p.K66N|HNRNPK_uc004anh.3_Missense_Mutation_p.K66N|HNRNPK_uc011lsx.1_Missense_Mutation_p.K66N|HNRNPK_uc004ani.3_Missense_Mutation_p.K66N|HNRNPK_uc004anj.3_Missense_Mutation_p.K66N|HNRNPK_uc004ann.3_Missense_Mutation_p.K66N|HNRNPK_uc004anl.3_Missense_Mutation_p.K66N|HNRNPK_uc004anm.3_Missense_Mutation_p.K66N	p.K66N	NM_031262	NP_112552	P61978	HNRPK_HUMAN			5	422	-			66			1-1.|2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 1.|Necessary for interaction with DDX1.|Interaction with ASFV p30.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.198G>C	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598977	0.66332	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.28	4.15	0.48705	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.66378	2.025	0.58432	D	0.999997	D;P;D;D;D;D;D;D	0.89917	1.0;0.937;1.0;1.0;0.999;1.0;1.0;0.999	D;P;D;D;D;D;D;D	0.91635	0.998;0.695;0.998;0.999;0.99;0.996;0.999;0.994	T	0.47935	-0.9078	10	0.32370	T	0.25	-3.659	12.0449	0.53475	0.0:0.844:0.0:0.156	.	66;55;66;66;66;66;66;66	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	N	66;66;66;66;66;55;66;66;66	ENSP00000365458:K66N;ENSP00000365440:K66N;ENSP00000365439:K66N;ENSP00000317788:K66N;ENSP00000353552:K66N;ENSP00000409456:K66N	ENSP00000317788:K66N	K	-	3	2	HNRNPK	85781745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.911000	0.48774	2.623000	0.88846	0.650000	0.86243	AAG		PASS	0.343	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			21	5	21	5	---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86591934	86591934	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr9:86591934C>T	ENST00000376264.2	-	5	447	c.189G>A	c.(187-189)aaG>aaA	p.K63K	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Silent_p.K63K|HNRNPK_ENST00000360384.5_Silent_p.K63K|HNRNPK_ENST00000376281.4_Silent_p.K63K|HNRNPK_ENST00000376263.3_Silent_p.K63K	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	63	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.K63K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCTTAATATTCTTGCCTCCTT	0.353																																						uc004ang.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)AAG>AAA		heterogeneous nuclear ribonucleoprotein K							83.0	82.0	83.0					9																	86591934		2203	4300	6503	SO:0001819	synonymous_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86591934C>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.189G>A	9.37:g.86591934C>T						HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Silent_p.K63K|HNRNPK_uc004anf.3_Silent_p.K63K|HNRNPK_uc004anh.3_Silent_p.K63K|HNRNPK_uc011lsx.1_Silent_p.K63K|HNRNPK_uc004ani.3_Silent_p.K63K|HNRNPK_uc004anj.3_Silent_p.K63K|HNRNPK_uc004ann.3_Silent_p.K63K|HNRNPK_uc004anl.3_Silent_p.K63K|HNRNPK_uc004anm.3_Silent_p.K63K	p.K63K	NM_031262	NP_112552	P61978	HNRPK_HUMAN			5	413	-			63			1-1.|2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 1.|Necessary for interaction with DDX1.|Interaction with ASFV p30.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	ENST00000376264.2	37	c.189G>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425767	0.62733	.	.	ENSG00000165119	ENST00000435158	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8627	0.09002	0.0:0.6607:0.0:0.3393	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPK	85781754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.397000	0.44477	2.623000	0.88846	0.650000	0.86243	.		PASS	0.353	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			20	6	20	6	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123908435	123908435	+	Silent	SNP	A	A	T	rs370034473		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr9:123908435A>T	ENST00000373855.1	+	23	3620	c.3360A>T	c.(3358-3360)cgA>cgT	p.R1120R	CNTRL_ENST00000238341.5_Silent_p.R1120R|CNTRL_ENST00000373847.1_Silent_p.R568R|CNTRL_ENST00000373850.1_Silent_p.R568R			Q7Z7A1	CNTRL_HUMAN	centriolin	1120					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R1120R(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGAACTTCGACGTGAAGTTT	0.358																																						uc004bkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3358-3360)CGA>CGT		centrosomal protein 110kDa							71.0	69.0	70.0					9																	123908435		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123908435A>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3360A>T	9.37:g.123908435A>T						CEP110_uc004bky.1_Silent_p.R724R|CEP110_uc004bla.1_Silent_p.R568R|CEP110_uc010mvo.1_5'UTR	p.R1120R	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			21	3391	+			1120					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.3360A>T	CCDS35118.1																																																																																				PASS	0.358	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		36	2	36	2	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206596	130206596	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr9:130206596C>T	ENST00000342483.5	+	5	1023	c.617C>T	c.(616-618)tCt>tTt	p.S206F	ZNF79_ENST00000543471.1_Missense_Mutation_p.S182F	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	206					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.S206F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGTTACTGTTCTTCCCTTTCT	0.483																																						uc004bqw.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(616-618)TCT>TTT		zinc finger protein 79							103.0	98.0	100.0					9																	130206596		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206596C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.617C>T	9.37:g.130206596C>T	ENSP00000362446:p.Ser206Phe					ZNF79_uc011maf.1_Missense_Mutation_p.S182F|ZNF79_uc011mag.1_Missense_Mutation_p.S182F	p.S206F	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1031	+			206			C2H2-type 1.		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.617C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075199	0.76415	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.07567	3.18;3.18	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25044	0.0608	M	0.69185	2.1	0.40243	D	0.97798	D	0.89917	1.0	D	0.68765	0.96	T	0.02307	-1.1179	9	0.87932	D	0	.	13.6759	0.62454	0.0:1.0:0.0:0.0	.	206	Q15937	ZNF79_HUMAN	F	206;182	ENSP00000362446:S206F;ENSP00000438418:S182F	ENSP00000362446:S206F	S	+	2	0	ZNF79	129246417	0.536000	0.26378	0.972000	0.41901	0.997000	0.91878	2.366000	0.44204	2.079000	0.62486	0.655000	0.94253	TCT		PASS	0.483	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		26	37	26	37	---	---	---	---
MSMB	4477	broad.mit.edu	37	10	51562373	51562373	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:51562373C>A	ENST00000358559.2	+	4	405	c.318C>A	c.(316-318)acC>acA	p.T106T	NCOA4_ENST00000452682.1_5'Flank|NCOA4_ENST00000438493.1_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000374087.4_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.P71H|NCOA4_ENST00000414907.2_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	106						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.T106T(1)		lung(4)|ovary(2)|prostate(1)	7						CAAAAAAGACCTGTTCTGTCA	0.458																																						uc001jiq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(316-318)ACC>ACA		beta-microseminoprotein isoform a precursor							179.0	153.0	162.0					10																	51562373		2203	4300	6503	SO:0001819	synonymous_variant	4477	Hereditary_Prostate_Cancer				extracellular space|nucleus		g.chr10:51562373C>A	BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.318C>A	10.37:g.51562373C>A						PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Missense_Mutation_p.P71H|NCOA4_uc009xon.2_5'Flank|NCOA4_uc010qhd.1_5'Flank|NCOA4_uc001jis.3_5'Flank|NCOA4_uc010qhe.1_5'Flank|NCOA4_uc010qhf.1_5'Flank	p.T106T	NM_002443	NP_002434	P08118	MSMB_HUMAN			4	350	+			106					B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Silent	SNP	ENST00000358559.2	37	c.318C>A	CCDS7235.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578126	0.45902	.	.	ENSG00000138294	ENST00000298239	T	0.24151	1.87	4.18	-3.3	0.05003	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.09310	N	1	P	0.36483	0.555	B	0.31390	0.129	T	0.17410	-1.0370	8	0.87932	D	0	6.0E-4	0.8681	0.01208	0.4184:0.2411:0.1373:0.2032	.	71	P08118-2	.	H	71	ENSP00000298239:P71H	ENSP00000298239:P71H	P	+	2	0	MSMB	51232379	0.001000	0.12720	0.002000	0.10522	0.074000	0.17049	-0.799000	0.04560	-0.638000	0.05509	0.650000	0.86243	CCT		PASS	0.458	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		66	77	66	77	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686704	68686704	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:68686704C>T	ENST00000361320.4	+	2	608	c.30C>T	c.(28-30)agC>agT	p.S10S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	10					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S10S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGCTACTGAGCGGATCAGCTG	0.413																																						uc001jmz.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(28-30)AGC>AGT		leucine rich repeat transmembrane neuronal 3							70.0	66.0	67.0					10																	68686704		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68686704C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.30C>T	10.37:g.68686704C>T						CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.S10S	p.S10S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	580	+			10					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.30C>T	CCDS7270.1																																																																																				PASS	0.413	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		14	58	14	58	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358173	72358173	+	Missense_Mutation	SNP	G	G	T	rs28933376		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:72358173G>T	ENST00000441259.1	-	3	1464	c.1304C>A	c.(1303-1305)aCg>aAg	p.T435K	PRF1_ENST00000373209.2_Missense_Mutation_p.T435K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	435	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.T435K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ATAGGCATCCGTGGCAGTGAA	0.617			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3	GRCh37	CM030491	PRF1	M	rs28933376	c.(1303-1305)ACG>AAG		perforin 1 precursor							48.0	46.0	47.0					10																	72358173		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358173G>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1304C>A	10.37:g.72358173G>T	ENSP00000398568:p.Thr435Lys					PRF1_uc001jrf.3_Missense_Mutation_p.T435K	p.T435K	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1465	-			435			C2.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1304C>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437121	0.43224	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	T;T	0.69926	-0.44;-0.44	5.7	4.8	0.61643	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.045883	0.85682	D	0.000000	T	0.80059	0.4554	M	0.86028	2.79	0.47276	D	0.99937	D	0.76494	0.999	P	0.59012	0.85	T	0.83015	-0.0170	10	0.62326	D	0.03	-16.7653	12.6679	0.56851	0.0805:0.0:0.9195:0.0	.	435	P14222	PERF_HUMAN	K	435	ENSP00000362305:T435K;ENSP00000398568:T435K	ENSP00000316746:T435K	T	-	2	0	PRF1	72028179	1.000000	0.71417	0.004000	0.12327	0.046000	0.14306	8.515000	0.90548	1.396000	0.46663	0.563000	0.77884	ACG		PASS	0.617	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		3	63	3	63	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101716838	101716838	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:101716838C>A	ENST00000324109.4	-	4	484	c.393G>T	c.(391-393)cgG>cgT	p.R131R	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.R131R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	131					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R131R(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGTGCCACTGCCGGCTCTGTG	0.622																																						uc001kqj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(391-393)CGG>CGT		dynamin binding protein							25.0	27.0	27.0					10																	101716838		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716838C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.393G>T	10.37:g.101716838C>A						NCRNA00093_uc001kqk.1_RNA	p.R131R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	485	-		Colorectal(252;0.234)	131					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.393G>T	CCDS7485.1																																																																																				PASS	0.622	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		17	20	17	20	---	---	---	---
ELOVL3	83401	broad.mit.edu	37	10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	rs199876592		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537																																						uc001kut.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)CGG>TGG		elongation of very long chain fatty acids like							141.0	132.0	135.0					10																	103988611		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988611C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.415C>T	10.37:g.103988611C>T	ENSP00000359022:p.Arg139Trp						p.R139W	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	578	+		Colorectal(252;0.207)	139					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.415C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670501	0.88348	.	.	ENSG00000119915	ENST00000370005	T	0.25414	1.8	5.24	4.33	0.51752	.	0.120655	0.38111	N	0.001807	T	0.54775	0.1879	M	0.86740	2.835	0.47994	D	0.999562	D	0.89917	1.0	D	0.81914	0.995	T	0.62969	-0.6741	10	0.87932	D	0	-8.7231	12.8124	0.57647	0.0:0.9196:0.0:0.0804	.	139	Q9HB03	ELOV3_HUMAN	W	139	ENSP00000359022:R139W	ENSP00000359022:R139W	R	+	1	2	ELOVL3	103978601	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	4.082000	0.57635	1.193000	0.43086	0.561000	0.74099	CGG		PASS	0.537	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		66	115	66	115	---	---	---	---
PITX3	5309	broad.mit.edu	37	10	103990395	103990395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:103990395G>T	ENST00000370002.3	-	4	938	c.785C>A	c.(784-786)tCg>tAg	p.S262*	PITX3_ENST00000539804.1_Nonsense_Mutation_p.S262*	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	262					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S262*(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGCCAGGCTCGAGTTACACGG	0.711																																						uc001kuu.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(784-786)TCG>TAG		paired-like homeodomain 3							23.0	25.0	24.0					10																	103990395		2198	4298	6496	SO:0001587	stop_gained	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990395G>T		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.785C>A	10.37:g.103990395G>T	ENSP00000359019:p.Ser262*						p.S262*	NM_005029	NP_005020	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	939	-		Colorectal(252;0.00957)	262			OAR.		Q5VZL2	Nonsense_Mutation	SNP	ENST00000370002.3	37	c.785C>A	CCDS7532.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674633	0.88445	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6274	0.91346	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000359019:S262X	S	-	2	0	PITX3	103980385	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.601000	0.98297	2.387000	0.81309	0.555000	0.69702	TCG		PASS	0.711	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	17	3	17	---	---	---	---
PITX3	5309	broad.mit.edu	37	10	103990840	103990840	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:103990840G>T	ENST00000370002.3	-	4	493	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	PITX3_ENST00000539804.1_Missense_Mutation_p.R114S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	114					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R114S(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CATTTGGCGCGCCGGTTCTTG	0.731																																						uc001kuu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)CGC>AGC		paired-like homeodomain 3							6.0	8.0	8.0					10																	103990840		2071	4150	6221	SO:0001583	missense	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990840G>T		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.340C>A	10.37:g.103990840G>T	ENSP00000359019:p.Arg114Ser						p.R114S	NM_005029	NP_005020	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	494	-		Colorectal(252;0.00957)	114			Homeobox.		Q5VZL2	Missense_Mutation	SNP	ENST00000370002.3	37	c.340C>A	CCDS7532.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217808	0.79352	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	D;D	0.99158	-5.5;-5.5	4.55	3.57	0.40892	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	.	11.9287	0.52835	0.0:0.0:0.7298:0.2702	.	114	O75364	PITX3_HUMAN	S	114	ENSP00000359019:R114S;ENSP00000439383:R114S	ENSP00000359019:R114S	R	-	1	0	PITX3	103980830	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.256000	0.51492	2.075000	0.62263	0.455000	0.32223	CGC		PASS	0.731	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	15	3	15	---	---	---	---
MCMBP	79892	broad.mit.edu	37	10	121618678	121618678	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:121618678C>T	ENST00000360003.3	-	3	329	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.E54K	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	54					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E54K(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGGGGAACTTCGTTCAGTGAT	0.328																																						uc001ler.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(160-162)GAA>AAA		chromosome 10 open reading frame 119							55.0	56.0	56.0					10																	121618678		2203	4299	6502	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618678C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.160G>A	10.37:g.121618678C>T	ENSP00000353098:p.Glu54Lys					C10orf119_uc001les.1_5'UTR	p.E54K	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	3	458	-		Lung NSC(174;0.109)|all_lung(145;0.142)	54					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.160G>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731140	0.69189	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.32	5.32	0.75619	.	0.053583	0.64402	D	0.000001	T	0.34629	0.0904	L	0.27053	0.805	0.50313	D	0.99986	P	0.36535	0.557	B	0.22753	0.041	T	0.30060	-0.9991	9	0.07990	T	0.79	0.8293	18.9927	0.92800	0.0:1.0:0.0:0.0	.	54	Q9BTE3	MCMBP_HUMAN	K	54	.	ENSP00000353098:E54K	E	-	1	0	MCMBP	121608668	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.304000	0.78882	2.472000	0.83506	0.591000	0.81541	GAA		PASS	0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		20	23	20	23	---	---	---	---
OR51E2	81285	broad.mit.edu	37	11	4703724	4703724	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:4703724G>A	ENST00000396950.3	-	2	457	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	73					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.S73F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTGGATGTGGATAAGGCCAG	0.507																																						uc001lzk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(217-219)TCC>TTC		olfactory receptor, family 51, subfamily E,							107.0	88.0	95.0					11																	4703724		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703724G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.218C>T	11.37:g.4703724G>A	ENSP00000380153:p.Ser73Phe						p.S73F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	462	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	73			Helical; Name=2; (Potential).		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.218C>T	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.361040	0.61403	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00840	5.63;5.63	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000315	T	0.09730	0.0239	H	0.96111	3.77	0.36110	D	0.844745	D	0.63880	0.993	D	0.65987	0.94	T	0.08659	-1.0711	10	0.87932	D	0	.	17.0368	0.86478	0.0:0.0:1.0:0.0	.	73	Q9H255	O51E2_HUMAN	F	73	ENSP00000380153:S73F;ENSP00000432644:S73F	ENSP00000380153:S73F	S	-	2	0	OR51E2	4660300	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.834000	0.27518	2.613000	0.88420	0.655000	0.94253	TCC		PASS	0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		54	39	54	39	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153137	5153137	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:5153137C>T	ENST00000307388.1	-	1	735	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	246					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.A246T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAATGTGGGCAATGCATGTA	0.398																																						uc010qyx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(736-738)GCC>ACC		olfactory receptor, family 52, subfamily A,							138.0	123.0	128.0					11																	5153137		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153137C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.736G>A	11.37:g.5153137C>T	ENSP00000303469:p.Ala246Thr						p.A246T	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	736	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	246			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.736G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180892	0.21787	.	.	ENSG00000171944	ENST00000307388	T	0.37235	1.21	5.22	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.284436	0.25272	N	0.031870	T	0.27933	0.0688	L	0.37800	1.135	0.21740	N	0.999566	B	0.21071	0.051	B	0.30782	0.12	T	0.27706	-1.0066	10	0.72032	D	0.01	.	6.2373	0.20770	0.2224:0.6228:0.0:0.1548	.	246	Q9H2C5	O52A5_HUMAN	T	246	ENSP00000303469:A246T	ENSP00000303469:A246T	A	-	1	0	OR52A5	5109713	0.062000	0.20869	0.995000	0.50966	0.318000	0.28184	0.325000	0.19628	0.788000	0.33755	-0.140000	0.14226	GCC		PASS	0.398	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		40	40	40	40	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5701330	5701330	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:5701330C>T	ENST00000380034.3	-	2	334	c.78G>A	c.(76-78)ctG>ctA	p.L26L	TRIM5_ENST00000396853.4_Silent_p.L26L|TRIM5_ENST00000380027.1_Silent_p.L26L|TRIM5_ENST00000396847.3_Silent_p.L26L|TRIM5_ENST00000305836.5_Silent_p.L26L|TRIM5_ENST00000396855.3_Silent_p.L26L|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	26					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L26L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGTCCAGGCTCAGGGGTTGTG	0.552																																						uc001mbm.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(76-78)CTG>CTA		tripartite motif protein TRIM5 isoform alpha							96.0	89.0	91.0					11																	5701330		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701330C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.78G>A	11.37:g.5701330C>T						TRIM5_uc001mbq.1_Silent_p.L26L|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.L26L|TRIM5_uc001mbo.2_Silent_p.L26L|TRIM5_uc001mbp.2_Silent_p.L26L	p.L26L	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	335	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	26			RING-type.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.78G>A	CCDS31393.1																																																																																				PASS	0.552	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		57	79	57	79	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17474672	17474672	+	Silent	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:17474672T>C	ENST00000389817.3	-	7	1238	c.1170A>G	c.(1168-1170)gcA>gcG	p.A390A	ABCC8_ENST00000302539.4_Silent_p.A390A			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	390	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.A390A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTACCTGTATTGCTCCTCTCA	0.393																																						uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1168-1170)GCA>GCG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						124.0	120.0	121.0					11																	17474672		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17474672T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1170A>G	11.37:g.17474672T>C						ABCC8_uc010rcy.1_Silent_p.A389A	p.A390A	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	7	1296	-			390			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.1170A>G	CCDS31437.1																																																																																				PASS	0.393	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		21	105	21	105	---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34938280	34938280	+	Silent	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:34938280A>G	ENST00000227868.4	+	1	162	c.78A>G	c.(76-78)gtA>gtG	p.V26V	APIP_ENST00000395787.3_5'Flank|APIP_ENST00000527830.1_5'Flank|PDHX_ENST00000430469.2_Silent_p.V26V|PDHX_ENST00000448838.3_Intron|APIP_ENST00000278359.5_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	26					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.V26V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GCCGAAGCGTAGGGCTGGTGA	0.652																																						uc001mvt.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(76-78)GTA>GTG		pyruvate dehydrogenase complex, component X							33.0	36.0	35.0					11																	34938280		2202	4298	6500	SO:0001819	synonymous_variant	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34938280A>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.78A>G	11.37:g.34938280A>G						PDHX_uc010rep.1_Intron|PDHX_uc010req.1_Silent_p.V26V|APIP_uc010reo.1_5'Flank|APIP_uc001mvs.2_5'Flank	p.V26V	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		1	604	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	26					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	c.78A>G	CCDS7896.1																																																																																				PASS	0.652	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		14	26	14	26	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322751	55322751	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:55322751G>A	ENST00000314644.2	+	1	969	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M323I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGACAAAATGGCGGCAATAT	0.383										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(967-969)ATG>ATA		olfactory receptor, family 4, subfamily C,							198.0	196.0	197.0					11																	55322751		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322751G>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.969G>A	11.37:g.55322751G>A	ENSP00000324958:p.Met323Ile	HNSCC(20;0.049)					p.M323I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	969	+			269			Helical; Name=7; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.969G>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.248255	0.01469	.	.	ENSG00000181939	ENST00000314644	T	0.00063	8.78	5.02	-0.51	0.11973	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04820	-0.15	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.00792	-1.1564	9	0.26408	T	0.33	.	5.5521	0.17095	0.1551:0.0:0.4377:0.4072	.	269	Q8NGM1	OR4CF_HUMAN	I	323	ENSP00000324958:M323I	ENSP00000324958:M323I	M	+	3	0	OR4C15	55079327	0.000000	0.05858	0.120000	0.21714	0.022000	0.10575	-0.858000	0.04281	0.003000	0.14656	-0.815000	0.03128	ATG		PASS	0.383	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		42	108	42	108	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340262	55340263	+	Missense_Mutation	DNP	TG	TG	CA	rs370836583		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:55340262_55340263TG>CA	ENST00000314634.3	+	1	659_660	c.659_660TG>CA	c.(658-660)tTG>tCA	p.L220S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L220S(2)|p.L220L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTCATCTTCTTGCATTCTCTGA	0.416																																						uc010rih.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(658-660)TTG>TCG|c.(658-660)TTG>TTA		olfactory receptor, family 4, subfamily C,																																				SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340262T>C|g.chr11:55340263G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	Exception_encountered	11.37:g.55340262_55340263delinsCA	ENSP00000324913:p.Leu220Ser						p.L220S|p.L220L	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	659|660	+		all_epithelial(135;0.0748)	220			Cytoplasmic (Potential).		Q6IEV8	Missense_Mutation|Silent	SNP	ENST00000314634.3	37	c.659T>C|c.660G>A	CCDS31502.1																																																																																				PASS	0.416	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		15	48	15	48	---	---	---	---
MRPL16	54948	broad.mit.edu	37	11	59574276	59574276	+	Silent	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:59574276G>T	ENST00000300151.4	-	4	513	c.300C>A	c.(298-300)ggC>ggA	p.G100G		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	100					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G100G(1)		central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TTTCAAAGTGGCCCCAATGCA	0.488																																						uc001noh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)GGC>GGA		mitochondrial ribosomal protein L16 precursor							109.0	102.0	105.0					11																	59574276		2201	4295	6496	SO:0001819	synonymous_variant	54948						rRNA binding	g.chr11:59574276G>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.300C>A	11.37:g.59574276G>T							p.G100G	NM_017840	NP_060310	Q9NX20	RM16_HUMAN			4	514	-			100					Q9BYD0|Q9HB70	Silent	SNP	ENST00000300151.4	37	c.300C>A	CCDS7976.1																																																																																				PASS	0.488	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		59	42	59	42	---	---	---	---
MS4A1	931	broad.mit.edu	37	11	60235940	60235940	+	Nonstop_Mutation	SNP	A	A	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:60235940A>T	ENST00000534668.1	+	7	1182	c.893A>T	c.(892-894)tAa>tTa	p.*298L	MS4A1_ENST00000528313.1_Nonstop_Mutation_p.*131L|MS4A1_ENST00000532073.1_Nonstop_Mutation_p.*285L|MS4A1_ENST00000345732.4_Nonstop_Mutation_p.*298L|MS4A1_ENST00000389939.2_Nonstop_Mutation_p.*298L	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	0					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.*298L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTCTCCTTAAGTGATTTCT	0.393																																						uc001npp.2																			1	Nonstop extension(1)		lung(1)	ovary(3)|lung(2)	5						c.(892-894)TAA>TTA		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						99.0	94.0	95.0					11																	60235940		2203	4300	6503	SO:0001578	stop_lost	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235940A>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.893A>T	11.37:g.60235940A>T	ENSP00000433277:p.*298Leuext*11					MS4A1_uc001npq.2_Nonstop_Mutation_p.*298L|MS4A1_uc009yna.2_Nonstop_Mutation_p.*298L|MS4A1_uc009ymz.2_Nonstop_Mutation_p.*285L|MS4A1_uc010rlc.1_Nonstop_Mutation_p.*131L	p.*298L	NM_152866	NP_690605	P11836	CD20_HUMAN			8	1309	+			298					A6NMS4|B4DT24|P08984|Q13963	Nonstop_Mutation	SNP	ENST00000534668.1	37	c.893A>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	A	8.536	0.872152	0.17322	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	4.79	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8335	0.18594	0.6383:0.0:0.3617:0.0	.	.	.	.	L	298;285;298;131;298	.	.	X	+	2	2	MS4A1	59992516	0.905000	0.30787	0.887000	0.34795	0.291000	0.27294	0.657000	0.24963	0.415000	0.25817	0.533000	0.62120	TAA		PASS	0.393	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			6	20	6	20	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65617738	65617738	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:65617738G>A	ENST00000308342.6	+	4	795	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	124	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.E124K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GCAGGAGCTGGAAGCGTGAGT	0.562																																						uc001ofr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GAA>AAA		sorting nexin 6B							65.0	67.0	66.0					11																	65617738		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617738G>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.370G>A	11.37:g.65617738G>A	ENSP00000310620:p.Glu124Lys					SNX32_uc010rop.1_3'UTR	p.E124K	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	4	497	+			124			PX.		Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.370G>A	CCDS8113.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.453426|5.453426	0.96223|0.96223	.|.	.|.	ENSG00000172803|ENSG00000172803	ENST00000308342|ENST00000536740	T|.	0.39787|.	1.06|.	4.32|4.32	4.32|4.32	0.51571|0.51571	Phox homologous domain (4);|.	0.510095|.	0.16931|.	N|.	0.193681|.	T|T	0.80727|0.80727	0.4678|0.4678	M|M	0.90705|0.90705	3.14|3.14	0.47819|0.47819	D|D	0.999526|0.999526	D|.	0.64830|.	0.994|.	D|.	0.72982|.	0.979|.	D|D	0.85452|0.85452	0.1161|0.1161	10|6	0.72032|0.87932	D|D	0.01|0	-19.002|-19.002	14.3376|14.3376	0.66603|0.66603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124|.	Q86XE0|.	SNX32_HUMAN|.	K|E	124|102	ENSP00000310620:E124K|.	ENSP00000310620:E124K|ENSP00000440891:G102E	E|G	+|+	1|2	0|0	SNX32|SNX32	65374314|65374314	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.974000|0.974000	0.67602|0.67602	8.976000|8.976000	0.93442|0.93442	2.241000|2.241000	0.73720|0.73720	0.561000|0.561000	0.74099|0.74099	GAA|GGA		PASS	0.562	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		14	35	14	35	---	---	---	---
RCE1	9986	broad.mit.edu	37	11	66611788	66611788	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:66611788C>T	ENST00000309657.3	+	4	448	c.404C>T	c.(403-405)tCt>tTt	p.S135F	RCE1_ENST00000534645.1_3'UTR|RCE1_ENST00000525356.1_Missense_Mutation_p.S12F|RCE1_ENST00000524506.1_Missense_Mutation_p.S135F	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	135					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)	p.S135F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ATGCAGCTCTCTATGGATTGC	0.532																																						uc001ojk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(403-405)TCT>TTT		prenyl protein peptidase RCE1 isoform 1							179.0	169.0	172.0					11																	66611788		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66611788C>T	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.404C>T	11.37:g.66611788C>T	ENSP00000309163:p.Ser135Phe					RCE1_uc001ojl.1_Missense_Mutation_p.S31F	p.S135F	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN			4	448	+			135					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.404C>T	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097241	0.56075	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.86	3.94	0.45596	.	0.139782	0.49305	D	0.000152	T	0.52500	0.1738	L	0.55481	1.735	0.44042	D	0.996773	B	0.32693	0.38	B	0.38106	0.265	T	0.43893	-0.9363	9	0.10111	T	0.7	-7.2898	13.1008	0.59218	0.0:0.8382:0.1618:0.0	.	135	Q9Y256	FACE2_HUMAN	F	135;135;12	.	ENSP00000309163:S135F	S	+	2	0	RCE1	66368364	0.992000	0.36948	0.985000	0.45067	0.900000	0.52787	3.716000	0.54904	1.256000	0.44068	0.655000	0.94253	TCT		PASS	0.532	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		64	65	64	65	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88300267	88300267	+	Missense_Mutation	SNP	G	G	T	rs201352068	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:88300267G>T	ENST00000305447.4	-	7	2733	c.2584C>A	c.(2584-2586)Cta>Ata	p.L862I	GRM5_ENST00000305432.5_Missense_Mutation_p.L862I|GRM5_ENST00000393297.1_Missense_Mutation_p.L862I|GRM5_ENST00000455756.2_Missense_Mutation_p.L862I|GRM5_ENST00000418177.2_Missense_Mutation_p.L862I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	862					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.L862I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGGTTGACTAGGCTGCTGGAT	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		20772	0.002		0.0	False		,,,				2504	0.001					uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2584-2586)CTA>ATA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						73.0	68.0	69.0					11																	88300267		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300267G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2584C>A	11.37:g.88300267G>T	ENSP00000306138:p.Leu862Ile					GRM5_uc009yvm.2_Missense_Mutation_p.L862I	p.L862I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2784	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	862			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2584C>A	CCDS44694.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.34	1.611142	0.28712	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88509	-2.35;-2.31;-2.31;-2.35;-2.39	5.71	4.8	0.61643	.	0.132175	0.52532	D	0.000075	D	0.84920	0.5579	L	0.44542	1.39	0.31180	N	0.702128	P;P	0.51351	0.944;0.666	P;B	0.45037	0.467;0.194	D	0.84155	0.0425	9	.	.	.	.	9.1169	0.36764	0.2179:0.0:0.782:0.0	.	862;862	P41594-2;P41594	.;GRM5_HUMAN	I	862	ENSP00000402912:L862I;ENSP00000405690:L862I;ENSP00000305905:L862I;ENSP00000306138:L862I;ENSP00000376975:L862I	.	L	-	1	2	GRM5	87939915	1.000000	0.71417	0.983000	0.44433	0.948000	0.59901	3.447000	0.52936	1.429000	0.47314	0.655000	0.94253	CTA		PASS	0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		19	55	19	55	---	---	---	---
CEP57	9702	broad.mit.edu	37	11	95546720	95546720	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:95546720C>T	ENST00000325542.5	+	4	709	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000541150.1_Silent_p.A148A|CEP57_ENST00000325486.5_Silent_p.A157A|CEP57_ENST00000538658.1_Silent_p.A157A|CEP57_ENST00000537677.1_Silent_p.A130A	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	157	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.A157A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAAAGCATGCCGAAATGGAGA	0.333									Mosaic Variegated Aneuploidy Syndrome																													uc001pfp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(469-471)GCC>GCT		translokin							81.0	74.0	77.0					11																	95546720		2201	4298	6499	SO:0001819	synonymous_variant	9702	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95546720C>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.471C>T	11.37:g.95546720C>T						CEP57_uc001pfo.1_Silent_p.A157A|CEP57_uc010ruh.1_Silent_p.A148A|CEP57_uc010rui.1_Silent_p.A157A|CEP57_uc009ywn.1_Silent_p.A5A|CEP57_uc001pfq.1_Silent_p.A157A|CEP57_uc001pfr.1_Silent_p.A5A	p.A157A	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN			4	692	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	157			Potential.|centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	c.471C>T	CCDS8304.1																																																																																				PASS	0.333	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		11	24	11	24	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107920638	107920638	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:107920638G>A	ENST00000393094.2	+	4	872	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	86					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.D86N(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CCATCAAGATGATACGGCTTT	0.308																																						uc001pjv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)GAT>AAT		Vasopressin-activated calcium-mobilizing							83.0	77.0	79.0					11																	107920638		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107920638G>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.256G>A	11.37:g.107920638G>A	ENSP00000376808:p.Asp86Asn					CUL5_uc001pju.2_RNA	p.D86N	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	4	923	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	86					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.256G>A	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663741	0.88251	.	.	ENSG00000166266	ENST00000393094	T	0.30714	1.52	5.83	5.83	0.93111	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.74258	2.255	0.80722	D	1	P	0.34587	0.458	B	0.32864	0.154	T	0.17868	-1.0355	10	0.34782	T	0.22	-20.2384	20.1338	0.98010	0.0:0.0:1.0:0.0	.	86	Q93034	CUL5_HUMAN	N	86	ENSP00000376808:D86N	ENSP00000376808:D86N	D	+	1	0	CUL5	107425848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	2.770000	0.95276	0.655000	0.94253	GAT		PASS	0.308	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			13	37	13	37	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107920721	107920721	+	Silent	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:107920721A>G	ENST00000393094.2	+	4	955	c.339A>G	c.(337-339)caA>caG	p.Q113Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	113					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.Q113Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTTTTGTCAACTAGAGATTA	0.338																																						uc001pjv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(337-339)CAA>CAG		Vasopressin-activated calcium-mobilizing							81.0	82.0	82.0					11																	107920721		2201	4298	6499	SO:0001819	synonymous_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107920721A>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.339A>G	11.37:g.107920721A>G						CUL5_uc001pju.2_RNA	p.Q113Q	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	4	1006	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	113					A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	c.339A>G	CCDS31668.1																																																																																				PASS	0.338	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			44	26	44	26	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108385055	108385055	+	Silent	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:108385055T>A	ENST00000265843.4	-	6	1289	c.1179A>T	c.(1177-1179)tcA>tcT	p.S393S	EXPH5_ENST00000428840.1_Silent_p.S317S|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.S386S|EXPH5_ENST00000443411.1_Silent_p.S205S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	393					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.S393S(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)		TTTCCATTGGTGATGGTGCCC	0.443																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1177-1179)TCA>TCT		exophilin 5 isoform a							173.0	177.0	176.0					11																	108385055		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385055T>A		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.1179A>T	11.37:g.108385055T>A						EXPH5_uc010rvy.1_Silent_p.S205S|EXPH5_uc010rvz.1_Silent_p.S237S|EXPH5_uc010rwa.1_Silent_p.S317S	p.S393S	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	1290	-		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)	393					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.1179A>T	CCDS8341.1																																																																																				PASS	0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		126	96	126	96	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149399	119149399	+	Missense_Mutation	SNP	G	G	A	rs138277394		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:119149399G>A	ENST00000264033.4	+	9	1783	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	469	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M469I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCTCTTCATGATGAAGGAAT	0.463			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					2	Substitution - Missense(1)|Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1405-1407)ATG>ATA		Cas-Br-M (murine) ecotropic retroviral							80.0	84.0	82.0					11																	119149399		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149399G>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1407G>A	11.37:g.119149399G>A	ENSP00000264033:p.Met469Ile						p.M469I	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1545	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	469			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1407G>A	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250660	0.39797	.	.	ENSG00000110395	ENST00000264033	T	0.77229	-1.08	5.96	4.09	0.47781	.	0.038855	0.85682	D	0.000000	T	0.67107	0.2858	L	0.32530	0.975	0.45118	D	0.998135	B	0.02656	0.0	B	0.01281	0.0	T	0.60378	-0.7275	10	0.38643	T	0.18	-27.799	12.0497	0.53500	0.0651:0.1218:0.813:0.0	.	469	P22681	CBL_HUMAN	I	469	ENSP00000264033:M469I	ENSP00000264033:M469I	M	+	3	0	CBL	118654609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.440000	0.59975	0.855000	0.35359	0.655000	0.94253	ATG		PASS	0.463	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		37	34	37	34	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124875041	124875041	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr11:124875041A>G	ENST00000344762.5	+	13	2603	c.2344A>G	c.(2344-2346)Atg>Gtg	p.M782V	CCDC15_ENST00000529051.1_Missense_Mutation_p.M782V	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	782						centrosome (GO:0005813)		p.M782V(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		acgacttttcatggatattGA	0.333																																						uc001qbm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2344-2346)ATG>GTG		coiled-coil domain containing 15							48.0	41.0	43.0					11																	124875041		1825	4074	5899	SO:0001583	missense	80071					centrosome		g.chr11:124875041A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2344A>G	11.37:g.124875041A>G	ENSP00000341684:p.Met782Val						p.M782V	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	13	2603	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	782			Potential.		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2344A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347516	0.41599	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.46451	0.87;0.93	5.56	5.56	0.83823	.	0.000000	0.49305	D	0.000145	T	0.60637	0.2284	M	0.64404	1.975	0.29640	N	0.844791	D	0.71674	0.998	D	0.78314	0.991	T	0.59495	-0.7444	10	0.33940	T	0.23	-0.1942	15.0019	0.71479	1.0:0.0:0.0:0.0	.	782	Q0P6D6	CCD15_HUMAN	V	782	ENSP00000435403:M782V;ENSP00000341684:M782V	ENSP00000341684:M782V	M	+	1	0	CCDC15	124380251	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.359000	0.66074	2.240000	0.73641	0.533000	0.62120	ATG		PASS	0.333	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		8	2	8	2	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2224635	2224635	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:2224635C>T	ENST00000347598.4	+	2	295	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	CACNA1C_ENST00000399655.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R99C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R99C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R99C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R99C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R99C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R99C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R99C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	99					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R99C(3)|p.R129C(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACGGCCACACGCCCGCCCCG	0.627																																						uc009zdu.1																			4	Substitution - Missense(4)		lung(4)	ovary(10)|central_nervous_system(1)	11						c.(295-297)CGC>TGC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						34.0	44.0	41.0					12																	2224635		2170	4280	6450	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2224635C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.295C>T	12.37:g.2224635C>T	ENSP00000266376:p.Arg99Cys					CACNA1C_uc009zdv.1_Missense_Mutation_p.R99C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R99C|CACNA1C_uc001qke.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R99C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R99C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R99C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R99C|CACNA1C_uc001qko.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R99C|CACNA1C_uc001qku.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R99C|CACNA1C_uc001qks.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R99C	p.R99C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	2	608	+			99			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.295C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534004	0.85812	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.58	5.58	0.84498	.	349.345000	0.00166	N	0.000000	T	0.78868	0.4351	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.987;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.996;0.995;0.995;0.997;0.996;0.993;0.993;0.995;0.997;0.997;0.364;0.995;0.999;0.997;0.995;0.995;0.997;0.997	T	0.59311	-0.7478	9	.	.	.	.	14.4211	0.67183	0.1474:0.8526:0.0:0.0	.	99;99;99;99;99;99;99;99;99;99;99;99;99;99;99;99;99;99;99;99	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	99	ENSP00000336982:R99C;ENSP00000382563:R99C;ENSP00000437936:R99C;ENSP00000382552:R99C;ENSP00000382547:R99C;ENSP00000382506:R99C;ENSP00000382530:R99C;ENSP00000382546:R99C;ENSP00000382500:R99C;ENSP00000382549:R99C;ENSP00000266376:R99C;ENSP00000382515:R99C;ENSP00000382510:R99C;ENSP00000341092:R99C;ENSP00000382537:R99C;ENSP00000329877:R99C;ENSP00000382557:R99C;ENSP00000385724:R99C;ENSP00000382512:R99C;ENSP00000382542:R99C;ENSP00000382526:R99C;ENSP00000385896:R99C;ENSP00000382504:R99C	.	R	+	1	0	CACNA1C	2094896	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	4.878000	0.63093	2.627000	0.88993	0.555000	0.69702	CGC		PASS	0.627	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		46	55	46	55	---	---	---	---
NDUFA9	4704	broad.mit.edu	37	12	4763618	4763618	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:4763618C>T	ENST00000266544.5	+	2	230	c.210C>T	c.(208-210)gtC>gtT	p.V70V	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	70					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)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.V70V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GATATGTTGTCAACCACCTTG	0.458																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(208-210)GTC>GTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						161.0	149.0	153.0					12																	4763618		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4763618C>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.210C>T	12.37:g.4763618C>T						NDUFA9_uc009zei.1_Silent_p.V70V	p.V70V	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			2	220	+			70					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.210C>T	CCDS8532.1																																																																																				PASS	0.458	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		43	94	43	94	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48531536	48531536	+	Silent	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:48531536A>G	ENST00000312352.7	+	11	1008	c.969A>G	c.(967-969)gcA>gcG	p.A323A	PFKM_ENST00000359794.5_Silent_p.A323A|PFKM_ENST00000340802.6_Silent_p.A394A|PFKM_ENST00000551804.1_Silent_p.A292A|PFKM_ENST00000395233.2_Silent_p.A292A|PFKM_ENST00000547587.1_Silent_p.A323A	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	323	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A323A(1)|p.A394A(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGTGATGGCACTTTTGGAGG	0.587																																						uc001rrc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(967-969)GCA>GCG		phosphofructokinase, muscle							134.0	119.0	124.0					12																	48531536		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48531536A>G	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.969A>G	12.37:g.48531536A>G						PFKM_uc001rra.1_Silent_p.A8A|PFKM_uc001rrb.1_Silent_p.A394A|PFKM_uc001rrd.2_Silent_p.A8A|PFKM_uc001rre.1_Silent_p.A323A|PFKM_uc001rrg.1_Silent_p.A292A	p.A323A	NM_000289	NP_000280	P08237	K6PF_HUMAN			11	1139	+			323					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.969A>G	CCDS8760.1																																																																																				PASS	0.587	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		35	91	35	91	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50471078	50471078	+	Missense_Mutation	SNP	C	C	T	rs373616682		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:50471078C>T	ENST00000447966.2	+	4	870	c.641C>T	c.(640-642)aCg>aTg	p.T214M	ASIC1_ENST00000228468.4_Missense_Mutation_p.T214M|ASIC1_ENST00000552438.1_Missense_Mutation_p.T248M	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	214					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.T214M(2)								Amiloride(DB00594)|Diclofenac(DB00586)	AAGGGTGGGACGGGCAATGGG	0.617																																						uc001rvw.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(640-642)ACG>ATG		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)	C	MET/THR,MET/THR	0,4406		0,0,2203	77.0	64.0	69.0		641,641	4.0	1.0	12		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACCN2	NM_001095.2,NM_020039.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	214/529,214/575	50471078	1,13005	2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471078C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.641C>T	12.37:g.50471078C>T	ENSP00000400228:p.Thr214Met					ACCN2_uc001rvv.2_Missense_Mutation_p.T214M|ACCN2_uc009zln.2_Missense_Mutation_p.T5M|ACCN2_uc009zlo.2_Missense_Mutation_p.T214M	p.T214M	NM_001095	NP_001086	P78348	ACCN2_HUMAN			4	870	+			214			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.641C>T	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.442|7.442	0.640986|0.640986	0.14386|0.14386	0.0|0.0	1.16E-4|1.16E-4	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.62232	.|0.04;0.04;0.04	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	.|0.128837	.|0.49916	.|D	.|0.000136	T|T	0.31420|0.31420	0.0796|0.0796	N|N	0.02275|0.02275	-0.615|-0.615	0.42892|0.42892	D|D	0.9942|0.9942	.|P;B	.|0.35272	.|0.493;0.334	.|B;B	.|0.29942	.|0.109;0.024	T|T	0.44967|0.44967	-0.9293|-0.9293	5|10	.|0.05959	.|T	.|0.93	-13.5713|-13.5713	16.7487|16.7487	0.85479|0.85479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|214;214	.|P78348;P78348-1	.|ACCN2_HUMAN;.	W|M	82|214;214;248	.|ENSP00000228468:T214M;ENSP00000400228:T214M;ENSP00000450247:T248M	.|ENSP00000228468:T214M	R|T	+|+	1|2	2|0	ACCN2|ACCN2	48757345|48757345	0.997000|0.997000	0.39634|0.39634	0.976000|0.976000	0.42696|0.42696	0.987000|0.987000	0.75469|0.75469	3.548000|3.548000	0.53670|0.53670	2.258000|2.258000	0.74832|0.74832	0.561000|0.561000	0.74099|0.74099	CGG|ACG		PASS	0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		34	48	34	48	---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64891754	64891754	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:64891754G>C	ENST00000331710.5	+	20	2412	c.2073G>C	c.(2071-2073)aaG>aaC	p.K691N		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	691					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K691N(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTAGTATGAAGAAATTAAAGG	0.289																																						uc001ssc.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(2071-2073)AAG>AAC		TANK-binding kinase 1							61.0	68.0	66.0					12																	64891754		2203	4296	6499	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891754G>C	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2073G>C	12.37:g.64891754G>C	ENSP00000329967:p.Lys691Asn						p.K691N	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	20	2135	+			691			Potential.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.2073G>C	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477799	0.44044	.	.	ENSG00000183735	ENST00000331710	T	0.68181	-0.31	5.7	4.8	0.61643	.	0.052234	0.64402	D	0.000001	T	0.56046	0.1959	L	0.27053	0.805	0.45161	D	0.99817	P	0.48162	0.906	P	0.46585	0.521	T	0.51513	-0.8696	9	.	.	.	-8.7272	10.5348	0.44998	0.07:0.0:0.7961:0.134	.	691	Q9UHD2	TBK1_HUMAN	N	691	ENSP00000329967:K691N	.	K	+	3	2	TBK1	63178021	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.930000	0.56522	2.868000	0.98415	0.555000	0.69702	AAG		PASS	0.289	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		40	52	40	52	---	---	---	---
CAPS2	84698	broad.mit.edu	37	12	75687147	75687147	+	Splice_Site	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:75687147C>T	ENST00000409445.3	-	13	1298	c.1102G>A	c.(1102-1104)Ggt>Agt	p.G368S	RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000393284.3_Splice_Site_p.G136S|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Splice_Site_p.G286S	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	368							calcium ion binding (GO:0005509)	p.G136S(1)|p.G368S(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGTTGCACCCTAAACAAAA	0.303																																						uc001sxk.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1102-1104)GGT>AGT		calcyphosine 2							95.0	88.0	90.0					12																	75687147		2203	4300	6503	SO:0001630	splice_region_variant	84698						calcium ion binding	g.chr12:75687147C>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1102-1G>A	12.37:g.75687147C>T						CAPS2_uc001sxm.3_Missense_Mutation_p.G136S|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Missense_Mutation_p.G104S|CAPS2_uc001sxj.3_Missense_Mutation_p.G279S|CAPS2_uc001sxl.3_Missense_Mutation_p.G349S	p.G368S	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			13	1299	-			368					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1102G>A	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180642	0.57800	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.53206	1.23;0.63;0.8	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.72153	0.3425	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.77938	-0.2400	10	0.87932	D	0	-13.1956	18.0096	0.89219	0.0:1.0:0.0:0.0	.	136;104;368;286	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	S	286;368;104;136	ENSP00000386977:G286S;ENSP00000386959:G368S;ENSP00000376963:G136S	ENSP00000367975:G104S	G	-	1	0	CAPS2	73973414	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	5.546000	0.67243	2.330000	0.79161	0.289000	0.19496	GGT		PASS	0.303	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		Missense_Mutation	27	11	27	11	---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96266040	96266040	+	Missense_Mutation	SNP	G	G	A	rs142050445		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:96266040G>A	ENST00000344280.3	-	14	2034	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	493								p.R493W(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTTTTGCCGCCATTCTTTC	0.398																																						uc001tek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1477-1479)CGG>TGG		coiled-coil domain containing 38		G	TRP/ARG	0,4406		0,0,2203	225.0	204.0	211.0		1477	3.6	1.0	12	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC38	NM_182496.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	493/564	96266040	1,13005	2203	4300	6503	SO:0001583	missense	120935							g.chr12:96266040G>A	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1477C>T	12.37:g.96266040G>A	ENSP00000345470:p.Arg493Trp						p.R493W	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			14	1711	-			493					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.1477C>T	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767745	0.69878	0.0	1.16E-4	ENSG00000165972	ENST00000344280	T	0.68331	-0.32	5.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.80884	0.4709	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83516	0.0083	10	0.87932	D	0	-14.7893	12.1403	0.53994	0.0:0.0:0.4535:0.5465	.	493	Q502W7	CCD38_HUMAN	W	493	ENSP00000345470:R493W	ENSP00000345470:R493W	R	-	1	2	CCDC38	94790171	0.990000	0.36364	1.000000	0.80357	0.897000	0.52465	1.101000	0.31037	1.453000	0.47775	0.555000	0.69702	CGG		PASS	0.398	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		108	90	108	90	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99837544	99837544	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:99837544G>T	ENST00000547776.2	-	11	1481	c.1482C>A	c.(1480-1482)aaC>aaA	p.N494K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.N494K|ANKS1B_ENST00000547010.1_Missense_Mutation_p.N74K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	494						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.N494K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTTCTATGGTTACTAGTTC	0.418																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)AAC>AAA		cajalin 2 isoform a							190.0	183.0	185.0					12																	99837544		1888	4126	6014	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837544G>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1482C>A	12.37:g.99837544G>T	ENSP00000449629:p.Asn494Lys					ANKS1B_uc001tgf.1_Missense_Mutation_p.N74K|ANKS1B_uc009ztt.1_Missense_Mutation_p.N460K	p.N494K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1899	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	494					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1482C>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912498	0.52439	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.59224	1.07;0.28;1.07;0.88	6.04	5.15	0.70609	.	0.127292	0.50627	D	0.000108	T	0.44705	0.1306	L	0.29908	0.895	0.80722	D	1	B;B;B	0.34329	0.241;0.449;0.155	B;B;B	0.32864	0.068;0.154;0.031	T	0.34204	-0.9838	9	.	.	.	-6.742	13.9441	0.64073	0.0706:0.0:0.9294:0.0	.	460;74;494	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	K	494;74;494;73;460	ENSP00000449629:N494K;ENSP00000448512:N74K;ENSP00000331381:N494K;ENSP00000449894:N460K	.	N	-	3	2	ANKS1B	98361675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.520000	0.73773	1.543000	0.49345	0.563000	0.77884	AAC		PASS	0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		58	77	58	77	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101505455	101505455	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:101505455G>T	ENST00000392977.3	+	24	2627	c.2417G>T	c.(2416-2418)gGa>gTa	p.G806V	ANO4_ENST00000299222.9_Missense_Mutation_p.G326V|ANO4_ENST00000550015.1_Missense_Mutation_p.G326V|ANO4_ENST00000392979.3_Missense_Mutation_p.G771V			Q32M45	ANO4_HUMAN	anoctamin 4	806					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G771V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATAAGTATGGACCTTGTGCA	0.398										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2416-2418)GGA>GTA		anoctamin 4							112.0	100.0	104.0					12																	101505455		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101505455G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2417G>T	12.37:g.101505455G>T	ENSP00000376703:p.Gly806Val	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.G771V|ANO4_uc001thx.2_Missense_Mutation_p.G806V|ANO4_uc001thy.2_Missense_Mutation_p.G326V	p.G806V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			24	2989	+			806			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2417G>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.732839	0.89482	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69926	-0.43;-0.29;-0.44;-0.29	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	L	0.48986	1.54	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.979;0.997;0.995	T	0.80197	-0.1482	10	0.87932	D	0	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	326;806;771	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	V	771;326;806;326	ENSP00000376705:G771V;ENSP00000299222:G326V;ENSP00000376703:G806V;ENSP00000450192:G326V	ENSP00000299222:G326V	G	+	2	0	ANO4	100029586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GGA		PASS	0.398	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		40	44	40	44	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104144435	104144435	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:104144435C>A	ENST00000388887.2	+	60	6721	c.6517C>A	c.(6517-6519)Cgc>Agc	p.R2173S	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.R2173S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCCATTGACCGCTGCTTACA	0.567																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(6517-6519)CGC>AGC		stabilin 2 precursor							94.0	82.0	86.0					12																	104144435		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104144435C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6517C>A	12.37:g.104144435C>A	ENSP00000373539:p.Arg2173Ser					STAB2_uc009zug.2_RNA	p.R2173S	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			60	6703	+			2173			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.6517C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298215	0.60195	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.64618	-0.11	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.81341	2.54	0.49130	D	0.999759	D	0.71674	0.998	D	0.65684	0.937	T	0.81378	-0.0960	10	0.72032	D	0.01	.	13.7974	0.63180	0.2788:0.7212:0.0:0.0	.	2173	Q8WWQ8	STAB2_HUMAN	S	2173;860	ENSP00000373539:R2173S	ENSP00000258495:R860S	R	+	1	0	STAB2	102668565	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	4.157000	0.58144	1.226000	0.43582	-0.324000	0.08512	CGC		PASS	0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			40	29	40	29	---	---	---	---
VPS29	51699	broad.mit.edu	37	12	110929836	110929836	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:110929836C>T	ENST00000549578.1	-	4	588	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	VPS29_ENST00000552130.2_Missense_Mutation_p.E80K|VPS29_ENST00000549970.1_Missense_Mutation_p.E80K|VPS29_ENST00000360579.7_Missense_Mutation_p.E179K|VPS29_ENST00000447578.2_Missense_Mutation_p.E80K|VPS29_ENST00000546588.1_Missense_Mutation_p.E207K	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	175					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)	p.E175K(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGATTCGTTCTACTTTCACA	0.343																																						uc001tqy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)GAA>AAA		vacuolar protein sorting 29 isoform 1							154.0	131.0	138.0					12																	110929836		1848	4114	5962	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110929836C>T	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.523G>A	12.37:g.110929836C>T	ENSP00000447058:p.Glu175Lys					VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E179K|VPS29_uc001tqz.2_RNA	p.E175K	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN			4	583	-			175					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.523G>A	CCDS41832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462573|4.462573	0.84425|0.84425	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970|ENST00000360579	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81767|0.81767	0.4892|0.4892	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	B;P|.	0.40282|.	0.313;0.711|.	B;B|.	0.41946|.	0.204;0.371|.	T|T	0.79455|0.79455	-0.1796|-0.1796	8|5	.|.	.|.	.|.	-6.197|-6.197	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175;179|.	Q9UBQ0;Q9UBQ0-2|.	VPS29_HUMAN;.|.	K|K	175;179;80;80;207;80|191	.|.	.|.	E|R	-|-	1|2	0|0	VPS29|VPS29	109414219|109414219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.762000|7.762000	0.85270|0.85270	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		PASS	0.343	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			22	30	22	30	---	---	---	---
SPPL3	121665	broad.mit.edu	37	12	121229358	121229358	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:121229358G>T	ENST00000353487.2	-	3	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	35						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.S35Y(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATATTAAGGGACCTGTGGAA	0.308																																						uc001tzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TCC>TAC		signal peptide peptidase 3							59.0	64.0	62.0					12																	121229358		2202	4297	6499	SO:0001583	missense	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121229358G>T		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.104C>A	12.37:g.121229358G>T	ENSP00000288680:p.Ser35Tyr					SPPL3_uc009zwz.2_Missense_Mutation_p.S35Y	p.S35Y	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN			3	585	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		35					Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	c.104C>A	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700523	0.88924	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.29655	1.56	5.83	5.83	0.93111	.	0.054298	0.85682	D	0.000000	T	0.55305	0.1912	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.65010	0.931;0.921	T	0.55309	-0.8161	10	0.87932	D	0	-24.7256	19.7306	0.96180	0.0:0.0:1.0:0.0	.	35;35	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	Y	35;34	ENSP00000288680:S35Y	ENSP00000288680:S35Y	S	-	2	0	AC069214.1	119713741	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.712000	0.91403	2.755000	0.94549	0.650000	0.86243	TCC		PASS	0.308	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		36	63	36	63	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121416877	121416877	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:121416877C>A	ENST00000543427.1	+	0	66				HNF1A_ENST00000541395.1_Silent_p.A102A|HNF1A_ENST00000544413.1_Silent_p.A102A|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Silent_p.A102A|HNF1A_ENST00000402929.1_Silent_p.A102A|HNF1A_ENST00000257555.6_Silent_p.A102A|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000538626.1_Intron|HNF1A-AS1_ENST00000535301.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A						glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A102A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCAGAAAGCCGTGGTGGAGA	0.657									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2																			1	Substitution - coding silent(1)		lung(1)	liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(304-306)GCC>GCA		hepatic nuclear factor-1-alpha							26.0	32.0	30.0					12																	121416877		2196	4277	6473			6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121416877C>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015		12.37:g.121416877C>A						HNF1A_uc001tze.1_Silent_p.A102A|HNF1A_uc001tzf.2_Silent_p.A102A|HNF1A_uc010szn.1_Silent_p.A102A	p.A102A	NM_000545	NP_000536	P20823	HNF1A_HUMAN			1	329	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		102					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000543427.1	37	c.306C>A																																																																																					PASS	0.657	HNF1A-201	KNOWN	basic	protein_coding	protein_coding		NM_000545		3	0	3	0	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122618406	122618406	+	Missense_Mutation	SNP	G	G	T	rs367724204		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:122618406G>T	ENST00000319080.7	+	9	1736	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	MLXIP_ENST00000377037.2_Missense_Mutation_p.R125L|MLXIP_ENST00000538698.1_Missense_Mutation_p.R142L					MLX interacting protein									p.R535L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCCAGCCACGGTTAACTTTT	0.617																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1603-1605)CGG>CTG		MLX interacting protein							23.0	27.0	25.0					12																	122618406		1975	4150	6125	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618406G>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1604G>T	12.37:g.122618406G>T	ENSP00000312834:p.Arg535Leu					MLXIP_uc001ubr.2_Missense_Mutation_p.R286L|MLXIP_uc001ubs.1_Missense_Mutation_p.R142L|MLXIP_uc001ubt.2_Missense_Mutation_p.R142L	p.R535L	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1604	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	535						Missense_Mutation	SNP	ENST00000319080.7	37	c.1604G>T		.	.	.	.	.	.	.	.	.	.	G	12.29	1.894218	0.33442	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.80909	-1.43;-1.43;-1.43	5.09	2.16	0.27623	.	0.532223	0.19799	N	0.105790	T	0.59252	0.2180	.	.	.	0.09310	N	1	B;B	0.27679	0.185;0.126	B;B	0.29524	0.103;0.061	T	0.42582	-0.9443	9	0.11794	T	0.64	0.314	3.5152	0.07722	0.3682:0.0:0.4609:0.1709	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	L	535;142;142;125	ENSP00000312834:R535L;ENSP00000440769:R142L;ENSP00000366236:R125L	ENSP00000312834:R535L	R	+	2	0	MLXIP	121184359	0.000000	0.05858	0.177000	0.23020	0.993000	0.82548	0.776000	0.26704	0.135000	0.18707	0.655000	0.94253	CGG		PASS	0.617	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		6	1	6	1	---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123425541	123425541	+	Splice_Site	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:123425541G>T	ENST00000542678.1	-	8	4220	c.1382C>A	c.(1381-1383)tCc>tAc	p.S461Y	ABCB9_ENST00000442028.2_Splice_Site_p.S461Y|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000346530.5_Splice_Site_p.S418Y|ABCB9_ENST00000442833.2_Splice_Site_p.S461Y|ABCB9_ENST00000344275.7_Splice_Site_p.S461Y|ABCB9_ENST00000280560.8_Splice_Site_p.S461Y|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000392439.3_Splice_Site_p.S461Y			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	461	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.S461Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGAGCCCACGGACTGGGGAGA	0.622																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)TCC>TAC		ATP-binding cassette, sub-family B (MDR/TAP),							42.0	28.0	33.0					12																	123425541		2202	4300	6502	SO:0001630	splice_region_variant	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123425541G>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1381-1C>A	12.37:g.123425541G>T						ABCB9_uc010tai.1_Missense_Mutation_p.S68Y|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S418Y|ABCB9_uc010taj.1_Intron|ABCB9_uc001udp.2_Missense_Mutation_p.S461Y|ABCB9_uc001udq.2_Intron|ABCB9_uc001udr.2_Missense_Mutation_p.S461Y	p.S461Y	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	8	1692	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		461			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1382C>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287465	0.40494	.	.	ENSG00000150967	ENST00000280560;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000542448;ENST00000545373;ENST00000540971	T;D;T;T;T;T;T;T	0.90069	-1.42;-2.61;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.62	4.74	0.60224	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.385364	0.29293	N	0.012576	D	0.87951	0.6307	L	0.60455	1.87	0.36055	D	0.841031	B;B;B;B	0.33964	0.047;0.099;0.434;0.27	B;B;B;B	0.36922	0.035;0.124;0.236;0.082	D	0.90508	0.4479	10	0.72032	D	0.01	-30.8483	14.2764	0.66181	0.0712:0.0:0.9288:0.0	.	68;461;418;461	B4DFR8;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;ABCB9_HUMAN	Y	461;418;461;461;461;87;68;167	ENSP00000280560:S461Y;ENSP00000280559:S418Y;ENSP00000376234:S461Y;ENSP00000440288:S461Y;ENSP00000394898:S461Y;ENSP00000440244:S87Y;ENSP00000444834:S68Y;ENSP00000441086:S167Y	ENSP00000280560:S461Y	S	-	2	0	ABCB9	121991494	0.998000	0.40836	0.941000	0.38009	0.680000	0.39746	2.924000	0.48876	1.365000	0.46057	0.655000	0.94253	TCC		PASS	0.622	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	Missense_Mutation	5	2	5	2	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132529905	132529905	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr12:132529905G>T	ENST00000333577.4	+	39	7043	c.6934G>T	c.(6934-6936)Gtc>Ttc	p.V2312F	EP400_ENST00000389561.2_Missense_Mutation_p.V2276F|EP400_ENST00000330386.6_Missense_Mutation_p.V2195F|EP400_ENST00000332482.4_Missense_Mutation_p.V2239F|EP400_ENST00000389562.2_Missense_Mutation_p.V2275F			Q96L91	EP400_HUMAN	E1A binding protein p400	2312					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V2275F(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGGCGGTCGTCCCTCCTCG	0.562																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(6826-6828)GTC>TTC		E1A binding protein p400							50.0	50.0	50.0					12																	132529905		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132529905G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6934G>T	12.37:g.132529905G>T	ENSP00000333602:p.Val2312Phe					EP400_uc001ujl.2_Missense_Mutation_p.V2275F|EP400_uc001ujm.2_Missense_Mutation_p.V2195F	p.V2276F	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	37	6861	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2312					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6826G>T		.	.	.	.	.	.	.	.	.	.	G	6.128	0.391826	0.11581	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.51	2.31	0.28768	.	0.178497	0.47852	D	0.000212	D	0.88691	0.6505	L	0.40543	1.245	0.29261	N	0.871349	D;D;D	0.58970	0.984;0.984;0.984	P;P;P	0.55222	0.771;0.695;0.771	T	0.82575	-0.0389	10	0.45353	T	0.12	.	6.6771	0.23100	0.4328:0.0:0.5672:0.0	.	2276;2195;2275	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2312;2276;2275;2239;2195;2276	ENSP00000333602:V2312F;ENSP00000374212:V2276F;ENSP00000374213:V2275F;ENSP00000331737:V2239F;ENSP00000330620:V2195F	ENSP00000330620:V2195F	V	+	1	0	EP400	131095858	1.000000	0.71417	0.007000	0.13788	0.042000	0.13812	4.436000	0.59948	0.708000	0.31955	0.655000	0.94253	GTC		PASS	0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		17	46	17	46	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20067042	20067042	+	Splice_Site	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr13:20067042G>A	ENST00000400230.2	-	3	111	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TPTE2_ENST00000255310.6_Splice_Site_p.P23S|TPTE2_ENST00000382977.4_Splice_Site_p.P23S|TPTE2_ENST00000382978.1_Splice_Site_p.P23S|TPTE2_ENST00000400103.2_Splice_Site_p.P23S|TPTE2_ENST00000390680.2_Splice_Site_p.P23S|TPTE2_ENST00000382975.4_Splice_Site_p.P23S|TPTE2_ENST00000457266.2_Splice_Site_p.P23S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	23					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(67-69)CCA>TCA		TPTE and PTEN homologous inositol lipid							148.0	124.0	132.0					13																	20067042		2203	4300	6503	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067042G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.66-1C>T	13.37:g.20067042G>A						TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P23S|TPTE2_uc001ume.2_Missense_Mutation_p.P23S|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.P23S	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	278	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	23					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.67C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156787	0.01686	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97906	-4.03;-4.6;-3.53;-3.85;-3.85;-3.53;-4.03;-4.6	0.963	-1.93	0.07594	.	0.536026	0.16595	N	0.207567	D	0.93103	0.7804	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14805	0.0;0.009;0.011	B;B;B	0.11329	0.0;0.005;0.006	T	0.77970	-0.2387	9	.	.	.	.	2.4091	0.04420	0.3649:0.0:0.3007:0.3344	.	23;23;23	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	23	ENSP00000372438:P23S;ENSP00000382974:P23S;ENSP00000383089:P23S;ENSP00000255310:P23S;ENSP00000375098:P23S;ENSP00000372437:P23S;ENSP00000372435:P23S;ENSP00000442218:P23S	.	P	-	1	0	TPTE2	18965042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.586000	0.02110	-2.909000	0.00309	-1.484000	0.00983	CCA		PASS	0.353	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	15	86	15	86	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36141107	36141107	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr13:36141107G>A	ENST00000400445.3	+	45	7522	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K	NBEA_ENST00000540320.1_Missense_Mutation_p.E2330K|NBEA_ENST00000537702.1_Missense_Mutation_p.E123K|NBEA_ENST00000379939.2_Missense_Mutation_p.E2327K|NBEA_ENST00000310336.4_Missense_Mutation_p.E2330K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2330	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.E2330K(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTATGAATCAGAAGAGTTGGA	0.348																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(6988-6990)GAA>AAA		neurobeachin							121.0	117.0	118.0					13																	36141107		1817	4083	5900	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36141107G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6988G>A	13.37:g.36141107G>A	ENSP00000383295:p.Glu2330Lys					NBEA_uc010abi.2_Missense_Mutation_p.E986K|NBEA_uc010tee.1_Missense_Mutation_p.E123K|NBEA_uc010tef.1_Missense_Mutation_p.E123K|NBEA_uc010teg.1_Missense_Mutation_p.E123K	p.E2330K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	45	7194	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2330			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6988G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974071	0.92919	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.96	5.96	0.96718	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.33624	1.015	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.33568	0.11;0.166	T	0.51513	-0.8696	10	0.30854	T	0.27	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	2330;2327	Q8NFP9;Q5T321	NBEA_HUMAN;.	K	2330;2330;2327;2330;957;123;123	ENSP00000440951:E2330K;ENSP00000383295:E2330K;ENSP00000369271:E2327K;ENSP00000308534:E2330K;ENSP00000440233:E123K	ENSP00000308534:E2330K	E	+	1	0	NBEA	35039107	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAA		PASS	0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		61	74	61	74	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36686298	36686298	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr13:36686298T>C	ENST00000360631.3	-	3	642	c.431A>G	c.(430-432)aAg>aGg	p.K144R	DCLK1_ENST00000379892.4_Missense_Mutation_p.K144R|DCLK1_ENST00000255448.4_Missense_Mutation_p.K144R			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	144					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.K144R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTTCACATTCTTGGTGTACTC	0.468																																						uc001uvf.2																			2	Substitution - Missense(2)		lung(2)	stomach(6)|ovary(2)|skin(1)	9						c.(430-432)AAG>AGG		doublecortin-like kinase 1							63.0	64.0	64.0					13																	36686298		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686298T>C	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.431A>G	13.37:g.36686298T>C	ENSP00000353846:p.Lys144Arg						p.K144R	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	664	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	144					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.431A>G		.	.	.	.	.	.	.	.	.	.	T	14.57	2.576312	0.45902	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.86865	-2.18;-2.18;-2.18	5.59	3.13	0.36017	.	0.097033	0.64402	N	0.000001	D	0.85248	0.5653	M	0.63428	1.95	0.54753	D	0.99998	B	0.21606	0.058	B	0.35039	0.194	T	0.77887	-0.2420	10	0.34782	T	0.22	.	8.6272	0.33897	0.0:0.0672:0.1301:0.8028	.	144	O15075-2	.	R	144	ENSP00000255448:K144R;ENSP00000353846:K144R;ENSP00000369222:K144R	ENSP00000255448:K144R	K	-	2	0	DCLK1	35584298	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.821000	0.86641	0.478000	0.27488	-0.323000	0.08544	AAG		PASS	0.468	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		56	61	56	61	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109793152	109793152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr13:109793152C>A	ENST00000357550.2	+	31	4567	c.4526C>A	c.(4525-4527)tCg>tAg	p.S1509*	MYO16_ENST00000356711.2_Nonsense_Mutation_p.S1509*	NM_001198950.1	NP_001185879.1			myosin XVI									p.S1509*(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCGACGAGTCGCCCCTGACA	0.711																																						uc001vqt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(4525-4527)TCG>TAG		myosin heavy chain Myr 8							13.0	16.0	15.0					13																	109793152		2182	4249	6431	SO:0001587	stop_gained	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793152C>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4526C>A	13.37:g.109793152C>A	ENSP00000350160:p.Ser1509*					MYO16_uc010agk.1_Nonsense_Mutation_p.S1531*	p.S1509*	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4652	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1509			Pro-rich.			Nonsense_Mutation	SNP	ENST00000357550.2	37	c.4526C>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	43	9.832204	0.99275	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	.	.	.	4.8	4.8	0.61643	.	0.222729	0.22690	U	0.056834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8616	0.86020	0.0:1.0:0.0:0.0	.	.	.	.	X	1509	.	.	S	+	2	0	MYO16	108591153	1.000000	0.71417	0.410000	0.26471	0.206000	0.24218	7.276000	0.78559	2.227000	0.72691	0.467000	0.42956	TCG		PASS	0.711	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	8	5	8	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20849731	20849731	+	Silent	SNP	C	C	A	rs140821977		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:20849731C>A	ENST00000262715.5	-	31	4579	c.4539G>T	c.(4537-4539)acG>acT	p.T1513T	TEP1_ENST00000545983.1_Intron|TEP1_ENST00000556935.1_Silent_p.T1405T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1513					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.T1513T(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGATGTGTGCCGTGTCCTCTA	0.637																																						uc001vxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(4537-4539)ACG>ACT		telomerase-associated protein 1							160.0	138.0	145.0					14																	20849731		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849731C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4539G>T	14.37:g.20849731C>A						TEP1_uc010ahk.2_Silent_p.T856T|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Silent_p.T1405T|TEP1_uc010tlh.1_Intron	p.T1513T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	31	4579	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1513					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4539G>T	CCDS9548.1																																																																																				PASS	0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		58	9	58	9	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42357019	42357019	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:42357019C>T	ENST00000298119.4	+	3	2380	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	LRFN5_ENST00000554120.1_Silent_p.I397I|LRFN5_ENST00000554171.1_Silent_p.I397I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	397						integral component of membrane (GO:0016021)		p.I397I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTCAGATATCTCAACTTCTA	0.383										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1189-1191)ATC>ATT		leucine rich repeat and fibronectin type III							84.0	86.0	85.0					14																	42357019		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42357019C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1191C>T	14.37:g.42357019C>T		HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.I397I	p.I397I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2389	+			397			Extracellular (Potential).		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1191C>T	CCDS9678.1																																																																																				PASS	0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		16	7	16	7	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42361132	42361132	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:42361132G>T	ENST00000298119.4	+	4	3254	c.2065G>T	c.(2065-2067)Ggg>Tgg	p.G689W	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	689						integral component of membrane (GO:0016021)		p.G689W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTCACAGAGGGGCCCACGTC	0.468										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(2065-2067)GGG>TGG		leucine rich repeat and fibronectin type III							58.0	55.0	56.0					14																	42361132		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361132G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2065G>T	14.37:g.42361132G>T	ENSP00000298119:p.Gly689Trp	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.G689W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3263	+			689			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.2065G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178060	0.21787	.	.	ENSG00000165379	ENST00000298119	T	0.47528	0.84	5.69	5.69	0.88448	.	0.370264	0.22814	N	0.055303	T	0.32406	0.0828	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11941	-1.0567	10	0.62326	D	0.03	.	17.3132	0.87215	0.0:0.0:1.0:0.0	.	689	Q96NI6	LRFN5_HUMAN	W	689	ENSP00000298119:G689W	ENSP00000298119:G689W	G	+	1	0	LRFN5	41430882	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.949000	0.40313	2.699000	0.92147	0.650000	0.86243	GGG		PASS	0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		30	10	30	10	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50623738	50623738	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:50623738T>A	ENST00000216373.5	-	12	2310	c.2036A>T	c.(2035-2037)tAt>tTt	p.Y679F	SOS2_ENST00000543680.1_Missense_Mutation_p.Y646F|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	679	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y679F(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGGTTGGACATATTCCTTGCG	0.358																																						uc001wxs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2035-2037)TAT>TTT		son of sevenless homolog 2							78.0	66.0	70.0					14																	50623738		2202	4300	6502	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50623738T>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2036A>T	14.37:g.50623738T>A	ENSP00000216373:p.Tyr679Phe					SOS2_uc010tql.1_Missense_Mutation_p.Y646F|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.Y367F	p.Y679F	NM_006939	NP_008870	Q07890	SOS2_HUMAN			12	2134	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		679			N-terminal Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.2036A>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150653	0.37923	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.29917	1.55;1.55	4.95	4.95	0.65309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.114827	0.64402	D	0.000009	T	0.24661	0.0598	N	0.21194	0.64	0.58432	D	0.999999	B;B;B	0.28470	0.196;0.213;0.03	B;B;B	0.32149	0.141;0.094;0.042	T	0.06373	-1.0830	10	0.41790	T	0.15	.	14.9273	0.70890	0.0:0.0:0.0:1.0	.	646;709;679	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	F	679;646	ENSP00000216373:Y679F;ENSP00000445328:Y646F	ENSP00000216373:Y679F	Y	-	2	0	SOS2	49693488	1.000000	0.71417	0.977000	0.42913	0.902000	0.53008	4.109000	0.57824	1.977000	0.57605	0.477000	0.44152	TAT		PASS	0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			13	1	13	1	---	---	---	---
MAPK1IP1L	93487	broad.mit.edu	37	14	55529998	55529998	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:55529998G>A	ENST00000395468.4	+	3	858	c.681G>A	c.(679-681)gtG>gtA	p.V227V		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	227	Pro-rich.							p.V227V(1)		endometrium(2)|large_intestine(1)|lung(3)	6						CTTTCCAAGTGCCTTCAGGAC	0.502																																						uc001xbq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)GTG>GTA		MAPK-interacting and spindle-stabilizing							75.0	68.0	71.0					14																	55529998		2203	4300	6503	SO:0001819	synonymous_variant	93487							g.chr14:55529998G>A	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.681G>A	14.37:g.55529998G>A							p.V227V	NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN			3	845	+			227			Pro-rich.		B2RDD8|Q96BG5	Silent	SNP	ENST00000395468.4	37	c.681G>A	CCDS32085.1																																																																																				PASS	0.502	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		4	58	4	58	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76906001	76906001	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:76906001T>C	ENST00000509242.1	+	3	403	c.305T>C	c.(304-306)cTg>cCg	p.L102P	ESRRB_ENST00000380887.2_Missense_Mutation_p.L102P|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.L102P|ESRRB_ENST00000261532.7_Missense_Mutation_p.L102P	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	102					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L102P(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCAAGCGCCTGTGCCTCGTG	0.622																																						uc001xsq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(304-306)CTG>CCG		estrogen-related receptor beta							63.0	58.0	60.0					14																	76906001		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76906001T>C	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.305T>C	14.37:g.76906001T>C	ENSP00000422488:p.Leu102Pro					ESRRB_uc001xsr.2_Missense_Mutation_p.L102P|ESRRB_uc001xso.2_RNA	p.L102P	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	372	+			102					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.305T>C	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427439	0.83667	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06	5.11	5.11	0.69529	.	0.076715	0.53938	D	0.000041	D	0.96855	0.8973	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97760	1.0220	10	0.87932	D	0	.	14.922	0.70847	0.0:0.0:0.0:1.0	.	102;107	Q5F0P7;E7EWD9	.;.	P	107;102;102;102;102	ENSP00000424992:L107P;ENSP00000422488:L102P;ENSP00000451658:L102P;ENSP00000370270:L102P;ENSP00000261532:L102P	ENSP00000261532:L102P	L	+	2	0	ESRRB	75975754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.000000	0.88501	1.927000	0.55829	0.533000	0.62120	CTG		PASS	0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			25	1	25	1	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81950624	81950624	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:81950624G>A	ENST00000336735.4	-	19	2107	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	664	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A664V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CATAGCTTGTGCACTGTGTTG	0.413																																						uc010tvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1990-1992)GCA>GTA		sel-1 suppressor of lin-12-like precursor							289.0	281.0	284.0					14																	81950624		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950624G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1991C>T	14.37:g.81950624G>A	ENSP00000337053:p.Ala664Val						p.A664V	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2108	-			664			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1991C>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.628394	0.96671	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.56776	0.44	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70332	-0.4901	10	0.87932	D	0	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	664	Q9UBV2	SE1L1_HUMAN	V	664;25	ENSP00000337053:A664V	ENSP00000261258:A25V	A	-	2	0	SEL1L	81020377	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	9.335000	0.96500	2.809000	0.96659	0.557000	0.71058	GCA		PASS	0.413	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		199	37	199	37	---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91700917	91700917	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:91700917C>T	ENST00000531499.2	-	2	817	c.478G>A	c.(478-480)Gag>Aag	p.E160K	GPR68_ENST00000535815.1_Missense_Mutation_p.E160K|GPR68_ENST00000238699.3_Missense_Mutation_p.E170K|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	160					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E170K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		ATGACCTCCTCGTGCATCAGG	0.622																																						uc001xzg.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(478-480)GAG>AAG		G protein-coupled receptor 68							80.0	58.0	66.0					14																	91700917		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700917C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.478G>A	14.37:g.91700917C>T	ENSP00000434045:p.Glu160Lys					GPR68_uc001xzh.2_Missense_Mutation_p.E170K	p.E160K	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	819	-		all_cancers(154;0.0555)	160			Extracellular (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.478G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373668	0.24857	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.12	-10.2	0.00374	GPCR, rhodopsin-like superfamily (1);	0.649607	0.16001	N	0.234291	T	0.12732	0.0309	N	0.11106	0.095	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.18650	-1.0330	10	0.02654	T	1	.	14.8723	0.70468	0.0:0.5405:0.3673:0.0922	.	160;160	Q6NWR5;Q15743	.;OGR1_HUMAN	K	160;170;160;160	ENSP00000434045:E160K;ENSP00000238699:E170K;ENSP00000440797:E160K;ENSP00000432740:E160K	ENSP00000238699:E170K	E	-	1	0	GPR68	90770670	0.000000	0.05858	0.103000	0.21229	0.981000	0.71138	-0.189000	0.09629	-3.179000	0.00223	-0.378000	0.06908	GAG		PASS	0.622	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			12	2	12	2	---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103371855	103371855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr14:103371855G>T	ENST00000560371.1	+	11	1658	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	TRAF3_ENST00000347662.4_Nonsense_Mutation_p.E456*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.E481*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.E456*|TRAF3_ENST00000539721.1_Nonsense_Mutation_p.E398*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	481	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R479fs*12(2)|p.E481*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CATGCGTGGAGAATATGATGC	0.517																																						uc001ymc.1																			3	Deletion - Frameshift(2)|Substitution - Nonsense(1)		liver(2)|lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1441-1443)GAA>TAA		TNF receptor-associated factor 3 isoform 1							213.0	191.0	198.0					14																	103371855		2203	4300	6503	SO:0001587	stop_gained	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371855G>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1441G>T	14.37:g.103371855G>T	ENSP00000454207:p.Glu481*					TRAF3_uc001yme.1_Nonsense_Mutation_p.E456*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.E481*|TRAF3_uc010txy.1_Nonsense_Mutation_p.E398*	p.E481*	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	12	1794	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	481			MATH.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Nonsense_Mutation	SNP	ENST00000560371.1	37	c.1441G>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632776	0.96682	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	.	.	.	5.69	5.69	0.88448	.	0.089376	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-34.6878	19.8752	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	481;456;481;398	.	ENSP00000328003:E456X	E	+	1	0	TRAF3	102441608	1.000000	0.71417	0.894000	0.35097	0.609000	0.37215	7.891000	0.87319	2.694000	0.91930	0.650000	0.86243	GAA		PASS	0.517	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		76	17	76	17	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T	rs570771230	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCCTGGAGGGGGGGCTTC	0.502																																						uc010tzu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(448-450)AGG>ATG		olfactory receptor, family 4, subfamily M,							308.0	265.0	280.0					15																	22369024		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369024G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.449G>T	15.37:g.22369024G>T	ENSP00000329467:p.Arg150Met					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R150M	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	449	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.449G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.305068	0.01353	.	.	ENSG00000182974	ENST00000332663	T	0.36340	1.26	2.5	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	1.194180	0.05949	N	0.638345	T	0.10852	0.0265	N	0.00566	-1.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.29301	T	0.29	0.3727	3.5572	0.07869	0.0:0.1461:0.2289:0.625	.	150	Q8NGB6	OR4M2_HUMAN	M	150	ENSP00000329467:R150M	ENSP00000329467:R150M	R	+	2	0	OR4M2	19870388	0.000000	0.05858	0.923000	0.36655	0.215000	0.24574	0.156000	0.16382	-0.122000	0.11766	-0.598000	0.04106	AGG		PASS	0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			35	212	35	212	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58285190	58285190	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:58285190C>G	ENST00000249750.4	-	6	1404	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.E117Q|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.E213Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.E184Q|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.E192Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	213					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.E213Q(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GGTGTTTGCTCTGCTGGCTTA	0.493																																						uc002aex.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(637-639)GAG>CAG		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						126.0	121.0	122.0					15																	58285190		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58285190C>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.637G>C	15.37:g.58285190C>G	ENSP00000249750:p.Glu213Gln					ALDH1A2_uc002aey.2_Missense_Mutation_p.E213Q|ALDH1A2_uc010ugv.1_Missense_Mutation_p.E192Q|ALDH1A2_uc010ugw.1_Missense_Mutation_p.E184Q|ALDH1A2_uc002aew.2_Missense_Mutation_p.E117Q	p.E213Q	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	6	695	-			213					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.637G>C	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070000	0.93950	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.21031	2.03;2.03;2.03	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.80982	2.52	0.80722	D	1	D;D;P;P	0.63880	0.989;0.993;0.675;0.74	D;P;B;P	0.64776	0.929;0.757;0.351;0.519	T	0.51020	-0.8758	10	0.66056	D	0.02	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	184;192;213;213	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	Q	213;117;184;213;192	ENSP00000249750:E213Q;ENSP00000309623:E213Q;ENSP00000438296:E192Q	ENSP00000249750:E213Q	E	-	1	0	ALDH1A2	56072482	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	7.320000	0.79064	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.493	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			42	64	42	64	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59063709	59063709	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:59063709G>C	ENST00000559228.1	+	1	197	c.115G>C	c.(115-117)Gat>Cat	p.D39H	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Missense_Mutation_p.D39H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	39								p.D39H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGCCGCTGGTGATGGTCCTGG	0.726																																						uc002afj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(115-117)GAT>CAT		hypothetical protein LOC54629 isoform a							15.0	17.0	17.0					15																	59063709		1768	3938	5706	SO:0001583	missense	54629							g.chr15:59063709G>C	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.115G>C	15.37:g.59063709G>C	ENSP00000452885:p.Asp39His					FAM63B_uc002afi.2_Missense_Mutation_p.D39H|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.D39H	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			1	317	+			39					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.115G>C	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701080	0.30142	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.50548	0.74	3.99	3.01	0.34805	.	0.226218	0.26951	N	0.021678	T	0.31231	0.0790	N	0.19112	0.55	0.26640	N	0.972307	B;B	0.14012	0.005;0.009	B;B	0.14578	0.005;0.011	T	0.24048	-1.0171	10	0.44086	T	0.13	-10.7494	11.309	0.49353	0.0:0.2028:0.7972:0.0	.	39;39	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	H	39	ENSP00000393231:D39H	ENSP00000326194:D39H	D	+	1	0	FAM63B	56851001	0.938000	0.31826	0.928000	0.36995	0.399000	0.30720	1.874000	0.39568	2.052000	0.61016	0.543000	0.68304	GAT		PASS	0.726	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		15	26	15	26	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65623939	65623939	+	Nonsense_Mutation	SNP	C	C	A	rs145612224	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:65623939C>A	ENST00000327987.4	-	8	1458	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	403	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.E403*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCACTGTTCTCGGCCACACAC	0.617																																						uc002aos.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1207-1209)GAG>TAG		putative neuronal cell adhesion molecule							42.0	39.0	40.0					15																	65623939		2201	4299	6500	SO:0001587	stop_gained	9543							g.chr15:65623939C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1207G>T	15.37:g.65623939C>A	ENSP00000332773:p.Glu403*					IGDCC3_uc002aor.1_5'Flank	p.E403*	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			8	1459	-			403			Extracellular (Potential).|Ig-like C2-type 4.		O95215	Nonsense_Mutation	SNP	ENST00000327987.4	37	c.1207G>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533070	0.85812	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	.	.	.	4.92	3.97	0.46021	.	0.057147	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.2824	8.6911	0.34267	0.0:0.767:0.1533:0.0797	.	.	.	.	X	403;266	.	ENSP00000332773:E403X	E	-	1	0	IGDCC3	63410992	1.000000	0.71417	0.950000	0.38849	0.234000	0.25298	4.952000	0.63618	0.998000	0.38996	0.655000	0.94253	GAG		PASS	0.617	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		9	12	9	12	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122698	86122698	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:86122698G>A	ENST00000394518.2	+	7	1494	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G467S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	467					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.G467S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAACTGGGAGGCATTTCAAC	0.532																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1399-1401)GGC>AGC		A-kinase anchor protein 13 isoform 2							71.0	75.0	74.0					15																	86122698		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122698G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1399G>A	15.37:g.86122698G>A	ENSP00000378026:p.Gly467Ser					AKAP13_uc002blt.1_Missense_Mutation_p.G467S|AKAP13_uc002blu.1_Missense_Mutation_p.G467S	p.G467S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1569	+			467					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1399G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035774	0.19590	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09911	2.93;2.93	5.3	3.03	0.35002	.	.	.	.	.	T	0.04003	0.0112	N	0.03608	-0.345	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.44143	-0.9347	9	0.13108	T	0.6	.	6.0123	0.19582	0.2611:0.0:0.7389:0.0	.	467;467	Q12802;Q12802-2	AKP13_HUMAN;.	S	467;467;466;466	ENSP00000354718:G467S;ENSP00000378026:G467S	ENSP00000354718:G467S	G	+	1	0	AKAP13	83923702	0.000000	0.05858	0.002000	0.10522	0.165000	0.22458	0.042000	0.13949	1.363000	0.46019	-0.244000	0.11960	GGC		PASS	0.532	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		15	80	15	80	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100339913	100339913	+	RNA	SNP	A	A	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr15:100339913A>T	ENST00000341853.1	-	0	1013					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGATGCTGAGAGCCTCTTTCA	0.642																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							52.0	46.0	48.0					15																	100339913		876	1991	2867			196968							g.chr15:100339913A>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339913A>T						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_5'Flank|uc002bvt.1_5'Flank		NR_003260						4		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.1014T>A																																																																																					PASS	0.642	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		8	34	8	34	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1272258	1272258	+	IGR	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:1272258G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.P199T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.P199T(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTGCCCCCGGGGCCGGGATAG	0.706																																						uc002ckw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)CCC>ACC		transmembrane tryptase preproprotein							17.0	23.0	21.0					16																	1272258		2113	4170	6283	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1272258G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272258G>T							p.P199T	NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN			5	597	-		Hepatocellular(780;0.00369)	199			Peptidase S1.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.595C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	8.464	0.855997	0.17106	.	.	ENSG00000116176	ENST00000234798	D	0.87650	-2.28	3.59	-4.81	0.03180	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.66655	0.2811	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.21151	0.033	T	0.54077	-0.8347	9	0.29301	T	0.29	.	3.1764	0.06570	0.1017:0.1083:0.2682:0.5218	.	199	Q9NRR2	TRYG1_HUMAN	T	199	ENSP00000234798:P199T	ENSP00000234798:P199T	P	-	1	0	TPSG1	1212259	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.135000	0.10420	-0.919000	0.03803	0.651000	0.88453	CCC		PASS	0.706	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		41	42	41	42	---	---	---	---
SRL	6345	broad.mit.edu	37	16	4242878	4242878	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:4242878C>T	ENST00000399609.3	-	6	710	c.698G>A	c.(697-699)gGt>gAt	p.G233D	SRL_ENST00000537996.1_Missense_Mutation_p.G191D	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	692	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G233D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CAGCTCTAGACCCACATCCAG	0.527																																						uc002cvz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(697-699)GGT>GAT		sarcalumenin							62.0	61.0	61.0					16																	4242878		1983	4148	6131	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242878C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.698G>A	16.37:g.4242878C>T	ENSP00000382518:p.Gly233Asp					SRL_uc002cvy.3_RNA	p.G233D	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			6	711	-			692						Missense_Mutation	SNP	ENST00000399609.3	37	c.698G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621403	0.87460	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96554	-4.05;-4.05	5.22	5.22	0.72569	.	0.129452	0.51477	U	0.000094	D	0.97062	0.9040	L	0.60455	1.87	0.80722	D	1	D	0.58620	0.983	P	0.56865	0.808	D	0.97524	1.0075	10	0.87932	D	0	-11.2034	18.9724	0.92721	0.0:1.0:0.0:0.0	.	233	Q86TD4-2	.	D	233;691;191	ENSP00000382518:G233D;ENSP00000440350:G191D	ENSP00000333285:G691D	G	-	2	0	SRL	4182879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.711000	0.92665	0.655000	0.94253	GGT		PASS	0.527	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		29	33	29	33	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858401	9858401	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:9858401C>T	ENST00000396573.2	-	14	3309	c.3000G>A	c.(2998-3000)gtG>gtA	p.V1000V	GRIN2A_ENST00000404927.2_Silent_p.V1000V|GRIN2A_ENST00000330684.3_Silent_p.V1000V|GRIN2A_ENST00000396575.2_Silent_p.V1000V|GRIN2A_ENST00000562109.1_Silent_p.V1000V|GRIN2A_ENST00000535259.1_Silent_p.V843V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1000					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.V1000V(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)	ATTCTGTGCTCACGGCCACCT	0.512																																						uc002czo.3																			1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2998-3000)GTG>GTA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						98.0	93.0	95.0					16																	9858401		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858401C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3000G>A	16.37:g.9858401C>T						GRIN2A_uc010uym.1_Silent_p.V1000V|GRIN2A_uc010uyn.1_Silent_p.V843V|GRIN2A_uc002czr.3_Silent_p.V1000V	p.V1000V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3548	-			1000			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3000G>A	CCDS10539.1																																																																																				PASS	0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			53	57	53	57	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15813504	15813504	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:15813504T>C	ENST00000300036.5	-	35	5129	c.5020A>G	c.(5020-5022)Aca>Gca	p.T1674A	MYH11_ENST00000452625.2_Missense_Mutation_p.T1681A|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.T1681A|MYH11_ENST00000576790.2_Missense_Mutation_p.T1674A|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1674					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T1681A(1)|p.T1674A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTTGGCTGTGGCAAAGATC	0.522			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5020-5022)ACA>GCA		smooth muscle myosin heavy chain 11 isoform							170.0	148.0	156.0					16																	15813504		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813504T>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5020A>G	16.37:g.15813504T>C	ENSP00000300036:p.Thr1674Ala					MYH11_uc002ddv.2_Missense_Mutation_p.T1681A|MYH11_uc002ddw.2_Missense_Mutation_p.T1674A|MYH11_uc002ddx.2_Missense_Mutation_p.T1681A|MYH11_uc010bvg.2_Missense_Mutation_p.T1506A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.T380A|NDE1_uc002ddz.1_5'Flank	p.T1674A	NM_002474	NP_002465	P35749	MYH11_HUMAN			35	5127	-			1674			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5020A>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	7.901	0.734301	0.15574	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.19	5.19	0.71726	Myosin tail (1);	0.186289	0.45867	D	0.000339	T	0.56920	0.2018	N	0.02315	-0.6	0.37255	D	0.90673	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.12837	0.006;0.004;0.004;0.004;0.008	T	0.61262	-0.7098	10	0.72032	D	0.01	.	14.2417	0.65961	0.0:0.0:0.0:1.0	.	1681;1674;1681;1674;1681	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	1674;1674;1681;1681;1681	ENSP00000300036:T1674A;ENSP00000345136:T1674A;ENSP00000379616:T1681A;ENSP00000407821:T1681A	ENSP00000300036:T1674A	T	-	1	0	MYH11	15721005	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	1.176000	0.31957	1.960000	0.56953	0.533000	0.62120	ACA		PASS	0.522	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		78	103	78	103	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16208928	16208928	+	Missense_Mutation	SNP	G	G	A	rs74985930	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:16208928G>A	ENST00000399410.3	+	23	3560	c.3385G>A	c.(3385-3387)Gtc>Atc	p.V1129I	ABCC1_ENST00000399408.2_Missense_Mutation_p.V1139I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1014I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1129I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1073I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1070I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1129	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.V1129I(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CTACTTCTTCGTCCAGGTAAG	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		18287	0.0		0.001	False		,,,				2504	0.001					uc010bvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3385-3387)GTC>ATC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4206		0,0,2103	51.0	54.0	53.0		3385,3208,3217,3040,3385	5.2	1.0	16	dbSNP_131	53	11,8459		0,11,4224	yes	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	29,29,29,29,29	0,11,6327	AA,AG,GG		0.1299,0.0,0.0868	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1129/1532,1070/1473,1073/1476,1014/1417,1129/1467	16208928	11,12665	2103	4235	6338	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208928G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3385G>A	16.37:g.16208928G>A	ENSP00000382342:p.Val1129Ile					ABCC1_uc010bvj.2_Missense_Mutation_p.V1070I|ABCC1_uc010bvk.2_Missense_Mutation_p.V1073I|ABCC1_uc010bvl.2_Missense_Mutation_p.V1129I|ABCC1_uc010bvm.2_Missense_Mutation_p.V1014I|ABCC1_uc002del.3_Missense_Mutation_p.V1023I	p.V1129I	NM_004996	NP_004987	P33527	MRP1_HUMAN			23	3560	+			1129			Helical; Name=15.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3385G>A	CCDS42122.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	17.50	3.405670	0.62288	0.0	0.001299	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.18	5.18	0.71444	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	N	0.11154	0.105	0.47949	D	0.999559	B;D;D;D;D;D	0.89917	0.163;0.959;1.0;0.999;1.0;1.0	B;P;D;D;D;D	0.85130	0.127;0.742;0.969;0.941;0.997;0.994	D	0.89192	0.3551	10	0.25106	T	0.35	-42.0164	17.6861	0.88256	0.0:0.0:1.0:0.0	.	1014;1129;1073;1070;1129;1139	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	1129;1139;1073;1070;1129;1014;813	ENSP00000382342:V1129I;ENSP00000382340:V1139I;ENSP00000263019:V1073I;ENSP00000263017:V1070I;ENSP00000263014:V1129I;ENSP00000263016:V1014I	ENSP00000263014:V1129I	V	+	1	0	ABCC1	16116429	1.000000	0.71417	0.991000	0.47740	0.592000	0.36648	7.992000	0.88273	2.417000	0.82017	0.655000	0.94253	GTC		PASS	0.532	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		34	37	34	37	---	---	---	---
EARS2	124454	broad.mit.edu	37	16	23535757	23535757	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:23535757C>G	ENST00000563459.1	-	9	1513	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Missense_Mutation_p.E503Q			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	503					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.E503Q(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		AACATCATCTCAGCTACAGGA	0.473																																						uc002dlt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1507-1509)GAG>CAG		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						188.0	179.0	182.0					16																	23535757		1970	4156	6126	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23535757C>G	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1507G>C	16.37:g.23535757C>G	ENSP00000456467:p.Glu503Gln					EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA	p.E503Q	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	9	1539	-			503					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1507G>C	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221604	0.79464	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.47528	0.84	5.69	5.69	0.88448	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 (1);	0.107906	0.64402	D	0.000007	T	0.55114	0.1900	M	0.81497	2.545	0.58432	D	0.999999	P	0.47484	0.896	P	0.44732	0.459	T	0.55315	-0.8160	10	0.22109	T	0.4	.	16.5476	0.84451	0.0:1.0:0.0:0.0	.	503	Q5JPH6	SYEM_HUMAN	Q	503	ENSP00000395196:E503Q	ENSP00000343488:E503Q	E	-	1	0	EARS2	23443258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.025000	0.64097	2.690000	0.91761	0.655000	0.94253	GAG		PASS	0.473	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		81	108	81	108	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25235842	25235842	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:25235842G>T	ENST00000219660.5	+	4	672	c.547G>T	c.(547-549)Ggc>Tgc	p.G183C	AQP8_ENST00000566125.1_Missense_Mutation_p.G177C	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	183					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.G183C(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAAGACAAAGGGCCCTCTGGC	0.622																																						uc002doc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(547-549)GGC>TGC		aquaporin 8							87.0	72.0	77.0					16																	25235842		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25235842G>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.547G>T	16.37:g.25235842G>T	ENSP00000219660:p.Gly183Cys						p.G183C	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	4	629	+			183			Cytoplasmic (Potential).		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.547G>T	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689983	0.29962	.	.	ENSG00000103375	ENST00000219660	D	0.88818	-2.43	5.49	-1.93	0.07594	Aquaporin-like (2);	0.321813	0.38778	N	0.001570	D	0.90310	0.6969	M	0.86740	2.835	0.09310	N	1	D	0.55800	0.973	P	0.56474	0.799	T	0.81953	-0.0697	10	0.87932	D	0	-0.4125	1.3549	0.02180	0.4611:0.1529:0.231:0.1549	.	183	O94778	AQP8_HUMAN	C	183	ENSP00000219660:G183C	ENSP00000219660:G183C	G	+	1	0	AQP8	25143343	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.758000	0.38410	-0.176000	0.10707	-0.868000	0.02995	GGC		PASS	0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		23	33	23	33	---	---	---	---
GOT2	2806	broad.mit.edu	37	16	58743377	58743377	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:58743377G>T	ENST00000245206.5	-	9	1242	c.1114C>A	c.(1114-1116)Caa>Aaa	p.Q372K	GOT2_ENST00000434819.2_Missense_Mutation_p.Q329K	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	372					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.Q372K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GTGATGTGTTGCCAATTGTGG	0.498																																						uc002eof.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1114-1116)CAA>AAA		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						203.0	175.0	184.0					16																	58743377		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743377G>T		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1114C>A	16.37:g.58743377G>T	ENSP00000245206:p.Gln372Lys					GOT2_uc010vim.1_Missense_Mutation_p.Q329K	p.Q372K	NM_002080	NP_002071	P00505	AATM_HUMAN			9	1228	-			372					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1114C>A	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818137	0.50633	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.20463	2.07;2.07	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055378	0.85682	D	0.000000	T	0.18676	0.0448	L	0.35542	1.07	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.003	T	0.04796	-1.0926	9	.	.	.	-8.1042	17.8555	0.88761	0.0:0.0:1.0:0.0	.	329;372	E7ERW2;P00505	.;AATM_HUMAN	K	372;329	ENSP00000245206:Q372K;ENSP00000394100:Q329K	.	Q	-	1	0	GOT2	57300878	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.821000	0.86641	2.446000	0.82766	0.650000	0.86243	CAA		PASS	0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			52	76	52	76	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70867983	70867983	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:70867983G>A	ENST00000393567.2	-	79	13636	c.13486C>T	c.(13486-13488)Cgt>Tgt	p.R4496C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4496					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4495C(1)|p.R4447C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGGGACACGCTTCTTCGGG	0.552																																						uc002ezr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(13483-13485)CGT>TGT		hydrocephalus inducing isoform a							4.0	4.0	4.0					16																	70867983		1584	3620	5204	SO:0001583	missense	54768							g.chr16:70867983G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13486C>T	16.37:g.70867983G>A	ENSP00000377197:p.Arg4496Cys					HYDIN_uc010cfy.2_RNA	p.R4495C	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			79	13611	-		Ovarian(137;0.0654)	4496					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13483C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977236	0.53720	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01430	4.9	4.87	4.87	0.63330	.	0.000000	0.33235	U	0.005128	T	0.10165	0.0249	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00972	-1.1495	10	0.72032	D	0.01	.	17.6354	0.88120	0.0:0.0:1.0:0.0	.	4495	F8WD23	.	C	4496;4495	ENSP00000377197:R4496C	ENSP00000313052:R4495C	R	-	1	0	HYDIN	69425484	1.000000	0.71417	0.989000	0.46669	0.190000	0.23558	5.719000	0.68462	2.257000	0.74773	0.511000	0.50034	CGT		PASS	0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			21	5	21	5	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89930203	89930203	+	Splice_Site	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:89930203T>C	ENST00000378247.3	+	12	1755	c.1712T>C	c.(1711-1713)aTt>aCt	p.I571T	SPIRE2_ENST00000393062.2_Splice_Site_p.I571T	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	571					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I571T(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCCTGACAGATTTGCTGCTGC	0.607																																						uc002foz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1711-1713)ATT>ACT		spire homolog 2							68.0	69.0	68.0					16																	89930203		2198	4300	6498	SO:0001630	splice_region_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89930203T>C	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1711-1T>C	16.37:g.89930203T>C						SPIRE2_uc010ciw.1_Missense_Mutation_p.I571T|SPIRE2_uc002fpa.1_Missense_Mutation_p.I523T|SPIRE2_uc010cix.1_Missense_Mutation_p.I438T	p.I571T	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	12	1764	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	571					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1712T>C	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044667	0.55110	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.75704	-0.96;0.67	5.63	5.63	0.86233	Zinc finger, FYVE/PHD-type (1);	0.284430	0.40144	N	0.001171	T	0.76147	0.3947	M	0.71581	2.175	0.80722	D	1	P;P;P;P	0.42692	0.675;0.597;0.787;0.634	B;B;B;B	0.42245	0.154;0.381;0.23;0.178	T	0.80148	-0.1503	10	0.87932	D	0	-7.3691	15.0173	0.71597	0.0:0.0:0.0:1.0	.	438;571;523;571	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	T	571	ENSP00000367494:I571T;ENSP00000376782:I571T	ENSP00000367494:I571T	I	+	2	0	SPIRE2	88457704	1.000000	0.71417	0.927000	0.36925	0.636000	0.38137	7.302000	0.78861	2.145000	0.66743	0.379000	0.24179	ATT		PASS	0.607	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	Missense_Mutation	43	9	43	9	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90095558	90095558	+	Intron	SNP	C	C	T	rs76646627		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr16:90095558C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.G65S|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.G65S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcctacggggcag	0.672																																						uc002fqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGC>AGC		hypothetical protein LOC750							25.0	20.0	21.0					16																	90095558		2191	4298	6489	SO:0001627	intron_variant	750							g.chr16:90095558C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1428C>T	16.37:g.90095558C>T						GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	p.G65S	NM_001214	NP_001205	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	752	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	73					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.193G>A	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990885	0.18966	.	.	ENSG00000221819	ENST00000408886	T	0.57595	0.39	1.2	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	8	.	.	.	.	2.4936	0.04616	0.0:0.4385:0.3231:0.2384	.	73	O95177	CP003_HUMAN	S	65	ENSP00000386218:G65S	.	G	-	1	0	C16orf3	88623059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.145000	0.10265	-0.326000	0.08564	0.407000	0.27541	GGC		PASS	0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	9	3	9	---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27935921	27935921	+	Silent	SNP	C	C	T	rs569876749		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:27935921C>T	ENST00000394859.3	+	5	628	c.474C>T	c.(472-474)agC>agT	p.S158S	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	158						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.S158S(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TGTGGAAGAGCGGCCAGAACC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21233	0.0		0.0	False		,,,				2504	0.001					uc002hei.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)AGC>AGT		ankyrin repeat domain 13B							78.0	66.0	70.0					17																	27935921		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27935921C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.474C>T	17.37:g.27935921C>T						ANKRD13B_uc002heh.2_Silent_p.S26S|ANKRD13B_uc002hej.2_RNA	p.S158S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			5	587	+			158					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.474C>T	CCDS11251.1																																																																																				PASS	0.592	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		21	20	21	20	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28543219	28543219	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:28543219C>T	ENST00000401766.2	-	6	1365	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A285T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	285					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.A285T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GGGAAGGTGGCTGTCACCCAC	0.587																																						uc002hey.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(853-855)GCC>ACC		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						54.0	51.0	52.0					17																	28543219		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28543219C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.853G>A	17.37:g.28543219C>T	ENSP00000385822:p.Ala285Thr						p.A285T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			7	1397	-			285			Helical; Name=5; (Potential).		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.853G>A	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763265	0.96906	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77877	-1.13;-1.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91444	0.5176	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	285	P31645	SC6A4_HUMAN	T	327;285;285	ENSP00000385822:A285T;ENSP00000261707:A285T	ENSP00000261707:A285T	A	-	1	0	SLC6A4	25567345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.587	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		18	57	18	57	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33491078	33491078	+	Silent	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:33491078T>A	ENST00000268876.5	+	9	1141	c.1044T>A	c.(1042-1044)acT>acA	p.T348T	UNC45B_ENST00000378449.1_Silent_p.T348T|UNC45B_ENST00000591048.1_Silent_p.T348T|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000394570.2_Silent_p.T348T|UNC45B_ENST00000433649.1_Silent_p.T348T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	348					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T348T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCCCCTGACTGACAACACCC	0.562																																						uc002hja.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1042-1044)ACT>ACA		cardiomyopathy associated 4 isoform 1							170.0	159.0	163.0					17																	33491078		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33491078T>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1044T>A	17.37:g.33491078T>A						UNC45B_uc002hjb.2_Silent_p.T348T|UNC45B_uc002hjc.2_Silent_p.T348T|UNC45B_uc010cto.2_Silent_p.T348T	p.T348T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			9	1141	+		Ovarian(249;0.17)	348					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1044T>A	CCDS11292.1																																																																																				PASS	0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		161	139	161	139	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40997994	40997994	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:40997994A>G	ENST00000253799.3	+	1	1378	c.1351A>G	c.(1351-1353)Agc>Ggc	p.S451G	AOC2_ENST00000452774.2_Missense_Mutation_p.S451G	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	451					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S451G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGTTTGGCCAGCTCAGCCCT	0.522																																						uc002ibu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1351-1353)AGC>GGC		amine oxidase, copper containing 2 isoform b							131.0	120.0	123.0					17																	40997994		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997994A>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1351A>G	17.37:g.40997994A>G	ENSP00000253799:p.Ser451Gly					AOC2_uc002ibt.2_Missense_Mutation_p.S451G	p.S451G	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1386	+		Breast(137;0.000143)	451					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1351A>G	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.723388	0.00700	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03441	3.93;3.93	5.46	-2.7	0.06004	Copper amine oxidase, C-terminal (3);	0.415990	0.25903	N	0.027549	T	0.01189	0.0039	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43196	-0.9406	10	0.07325	T	0.83	-46.3566	13.3425	0.60553	0.7159:0.0:0.2841:0.0	.	451;451	O75106;O75106-2	AOC2_HUMAN;.	G	451	ENSP00000253799:S451G;ENSP00000406134:S451G	ENSP00000253799:S451G	S	+	1	0	AOC2	38251520	0.327000	0.24678	0.030000	0.17652	0.581000	0.36288	1.027000	0.30115	-0.903000	0.03881	0.482000	0.46254	AGC		PASS	0.522	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		42	87	42	87	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71346876	71346876	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:71346876G>A	ENST00000392650.3	-	42	5812	c.5812C>T	c.(5812-5814)Ctg>Ttg	p.L1938L	SDK2_ENST00000388726.3_Silent_p.L1919L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1938					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L1938L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGCCGACCAGGGCAATGACC	0.567																																						uc010dfm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(5812-5814)CTG>TTG		sidekick 2							168.0	147.0	154.0					17																	71346876		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71346876G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5812C>T	17.37:g.71346876G>A						SDK2_uc002jjt.3_Silent_p.L1078L	p.L1938L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			42	5812	-			1938			Helical; (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5812C>T	CCDS45769.1																																																																																				PASS	0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		52	51	52	51	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72350424	72350424	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:72350424C>G	ENST00000389916.4	+	18	2570	c.2432C>G	c.(2431-2433)tCc>tGc	p.S811C	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	811					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S811C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCAGCCTGTCCCTGCACTCA	0.716																																						uc002jkm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2431-2433)TCC>TGC		kinesin family member 19							15.0	21.0	19.0					17																	72350424		2020	4168	6188	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350424C>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2432C>G	17.37:g.72350424C>G	ENSP00000374566:p.Ser811Cys						p.S811C	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			18	2570	+			811					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2432C>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413333	0.62511	.	.	ENSG00000196169	ENST00000389916	T	0.73681	-0.77	5.06	5.06	0.68205	.	.	.	.	.	D	0.82291	0.5005	M	0.63843	1.955	0.35862	D	0.82754	D	0.76494	0.999	D	0.64042	0.921	D	0.87130	0.2196	9	0.72032	D	0.01	.	12.9085	0.58166	0.0:0.9188:0.0:0.0812	.	811	Q2TAC6	KIF19_HUMAN	C	811	ENSP00000374566:S811C	ENSP00000374566:S811C	S	+	2	0	KIF19	69862019	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.951000	0.75983	2.364000	0.80123	0.556000	0.70494	TCC		PASS	0.716	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		20	31	20	31	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77914763	77914763	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:77914763C>T	ENST00000310924.2	-	12	2314	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	TBC1D16_ENST00000340848.7_Silent_p.E371E|TBC1D16_ENST00000576768.1_Silent_p.E358E	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	733							Rab GTPase activator activity (GO:0005097)	p.E733E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGGGACAGCTCTCCGAGCCGG	0.672																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2197-2199)GAG>GAA		TBC1 domain family, member 16							17.0	15.0	16.0					17																	77914763		2190	4295	6485	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77914763C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.2199G>A	17.37:g.77914763C>T						uc002jxg.1_5'Flank|TBC1D16_uc002jxh.2_Silent_p.E371E|TBC1D16_uc002jxi.2_Silent_p.E358E	p.E733E	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		12	2315	-	all_neural(118;0.167)		733					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.2199G>A	CCDS11766.1																																																																																				PASS	0.672	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		10	7	10	7	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32455309	32455309	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr18:32455309C>T	ENST00000399113.3	+	17	1769	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	DTNA_ENST00000269192.7_Missense_Mutation_p.P299L|DTNA_ENST00000590831.2_Missense_Mutation_p.P16L|DTNA_ENST00000601125.1_Missense_Mutation_p.P212L|DTNA_ENST00000399097.3_Missense_Mutation_p.P238L|DTNA_ENST00000283365.9_Missense_Mutation_p.P533L|DTNA_ENST00000591182.1_Missense_Mutation_p.P238L|DTNA_ENST00000595022.1_Missense_Mutation_p.P530L|DTNA_ENST00000598142.1_Missense_Mutation_p.P533L|DTNA_ENST00000556414.3_Missense_Mutation_p.P242L|DTNA_ENST00000444659.1_Missense_Mutation_p.P590L|DTNA_ENST00000399121.5_Missense_Mutation_p.P537L|DTNA_ENST00000598334.1_Missense_Mutation_p.P530L|DTNA_ENST00000269190.7_Missense_Mutation_p.P591L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	590					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P591L(1)|p.P590L(1)|p.P238L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACGCACACGCCGCAGGACTCC	0.572																																						uc010dmn.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1768-1770)CCG>CTG		dystrobrevin alpha isoform 1							70.0	67.0	68.0					18																	32455309		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32455309C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1769C>T	18.37:g.32455309C>T	ENSP00000382064:p.Pro590Leu					DTNA_uc002kxw.2_Missense_Mutation_p.P533L|DTNA_uc010dmj.2_Missense_Mutation_p.P530L|DTNA_uc002kxz.2_Missense_Mutation_p.P537L|DTNA_uc002kxy.2_Missense_Mutation_p.P530L|DTNA_uc010xby.1_Missense_Mutation_p.P280L|DTNA_uc010xbz.1_Missense_Mutation_p.P299L|DTNA_uc010xca.1_Missense_Mutation_p.P242L|DTNA_uc002kye.2_Missense_Mutation_p.P238L	p.P590L	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			17	1770	+			590					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1769C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895272	0.72639	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.20069	2.14;2.1;2.11;2.11	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.78223	2.4	0.80722	D	1	D;B;B;B;D;B;D;D;D	0.89917	0.996;0.055;0.003;0.013;0.985;0.022;0.96;0.999;1.0	P;B;B;B;P;B;B;D;D	0.72982	0.735;0.077;0.001;0.01;0.743;0.007;0.217;0.954;0.979	T	0.49437	-0.8940	10	0.59425	D	0.04	-13.903	19.7987	0.96497	0.0:1.0:0.0:0.0	.	242;299;280;590;533;238;537;541;533	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	L	533;533;537;591;238;590;590;590;299;238;242	ENSP00000283365:P533L;ENSP00000269190:P591L;ENSP00000405819:P590L;ENSP00000382064:P590L	ENSP00000269190:P591L	P	+	2	0	DTNA	30709307	1.000000	0.71417	0.687000	0.30102	0.623000	0.37688	6.057000	0.71119	2.767000	0.95098	0.655000	0.94253	CCG		PASS	0.572	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		40	21	40	21	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42531485	42531485	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr18:42531485G>T	ENST00000282030.5	+	4	2476	c.2180G>T	c.(2179-2181)cGg>cTg	p.R727L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	727						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R727L(1)|p.R673L(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCAAGAAGCGGGGCAGGAAG	0.582									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2179-2181)CGG>CTG		SET binding protein 1 isoform a							40.0	43.0	42.0					18																	42531485		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531485G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2180G>T	18.37:g.42531485G>T	ENSP00000282030:p.Arg727Leu						p.R727L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2476	+			727					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2180G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982552	0.74474	.	.	ENSG00000152217	ENST00000282030	D	0.91068	-2.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94853	0.8337	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.94331	0.7562	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	727	Q9Y6X0	SETBP_HUMAN	L	727	ENSP00000282030:R727L	ENSP00000282030:R727L	R	+	2	0	SETBP1	40785483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CGG		PASS	0.582	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		11	40	11	40	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67795714	67795714	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr18:67795714G>C	ENST00000255674.6	-	24	3309	c.3023C>G	c.(3022-3024)tCt>tGt	p.S1008C	RTTN_ENST00000437017.1_Missense_Mutation_p.S1008C|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1008					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S1008C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACAATCAGCAGATAAGGGCAA	0.403																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(3022-3024)TCT>TGT		rotatin							86.0	83.0	84.0					18																	67795714		2041	4215	6256	SO:0001583	missense	25914						binding	g.chr18:67795714G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3023C>G	18.37:g.67795714G>C	ENSP00000255674:p.Ser1008Cys					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S96C	p.S1008C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			24	3091	-		Esophageal squamous(42;0.129)	1008					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.3023C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006002	0.74932	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.25414	1.8;1.8	5.81	5.81	0.92471	.	0.113042	0.64402	D	0.000007	T	0.48187	0.1486	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.33394	-0.9870	10	0.59425	D	0.04	.	20.0896	0.97814	0.0:0.0:1.0:0.0	.	1008	Q86VV8	RTTN_HUMAN	C	1008	ENSP00000255674:S1008C;ENSP00000399520:S1008C	ENSP00000255674:S1008C	S	-	2	0	RTTN	65946694	1.000000	0.71417	0.773000	0.31616	0.996000	0.88848	4.610000	0.61155	2.741000	0.93983	0.650000	0.86243	TCT		PASS	0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		16	58	16	58	---	---	---	---
MBP	4155	broad.mit.edu	37	18	74696745	74696745	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr18:74696745T>C	ENST00000397869.3	-	5	698	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000355994.2_Missense_Mutation_p.K286E|MBP_ENST00000580402.1_Missense_Mutation_p.K286E|MBP_ENST00000397865.5_Missense_Mutation_p.K142E|MBP_ENST00000578193.1_Missense_Mutation_p.K153E|MBP_ENST00000397866.4_Missense_Mutation_p.K153E|RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.K163E|MBP_ENST00000359645.3_Missense_Mutation_p.K168E|MBP_ENST00000382582.3_Missense_Mutation_p.K179E|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Silent_p.P36P|MBP_ENST00000579129.1_Intron|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000526111.1_Missense_Mutation_p.K131E			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.K286E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TTAAAAATTTTGGAAAGCGTG	0.557																																					NSCLC(17;72 1131 19392)	uc010xfd.1																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(856-858)AAA>GAA		Golli-mbp isoform 1							75.0	78.0	77.0					18																	74696745		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74696745T>C		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.652A>G	18.37:g.74696745T>C	ENSP00000380967:p.Lys218Glu					MBP_uc002lml.2_Missense_Mutation_p.K179E|MBP_uc002lmn.2_Missense_Mutation_p.K168E|MBP_uc002lmp.2_Missense_Mutation_p.K142E|MBP_uc010xfe.1_3'UTR|MBP_uc010dqz.2_RNA	p.K286E	NM_001025101	NP_001020272	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	8	1120	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	286					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.856A>G		.	.	.	.	.	.	.	.	.	.	T	14.98	2.696039	0.48202	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.71	4.71	0.59529	.	0.219123	0.29876	N	0.010978	T	0.54208	0.1844	L	0.46157	1.445	0.34504	D	0.706366	B;B;B;B	0.28378	0.183;0.144;0.209;0.209	B;B;B;B	0.35510	0.138;0.066;0.204;0.133	T	0.67452	-0.5667	9	0.72032	D	0.01	3.2676	11.9271	0.52825	0.0:0.0:0.0:1.0	.	286;142;168;179	P02686;P02686-6;P02686-4;P02686-3	MBP_HUMAN;.;.;.	E	179;286;163;153;142;168;218;131;153;97	.	ENSP00000348273:K286E	K	-	1	0	MBP	72825733	0.999000	0.42202	0.985000	0.45067	0.365000	0.29674	4.178000	0.58284	1.745000	0.51790	0.379000	0.24179	AAA		PASS	0.557	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		26	69	26	69	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1003150	1003150	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:1003150C>T	ENST00000234389.3	+	2	467	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	150					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.H150Y(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGCAGCTGCACTGGGCCAG	0.677																																						uc002lqo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CAC>TAC		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						8.0	8.0	8.0					19																	1003150		2105	4159	6264	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1003150C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.448C>T	19.37:g.1003150C>T	ENSP00000234389:p.His150Tyr						p.H150Y	NM_138690	NP_619635	O60391	NMD3B_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)	2	448	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	150			Extracellular (Potential).		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.448C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	c	8.928	0.962667	0.18583	.	.	ENSG00000116032	ENST00000234389	T	0.10382	2.88	3.38	1.12	0.20585	.	27.896200	0.01218	U	0.008016	T	0.10637	0.0260	N	0.22421	0.69	0.19945	N	0.99994	B	0.20780	0.048	B	0.09377	0.004	T	0.41556	-0.9502	10	0.66056	D	0.02	.	11.5799	0.50885	0.0:0.3655:0.6345:0.0	.	150	O60391	NMD3B_HUMAN	Y	150	ENSP00000234389:H150Y	ENSP00000234389:H150Y	H	+	1	0	GRIN3B	954150	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.268000	0.43338	0.147000	0.19030	-0.535000	0.04281	CAC		PASS	0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			18	8	18	8	---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204149	9204149	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:9204149A>G	ENST00000429566.3	+	1	295	c.229A>G	c.(229-231)Acc>Gcc	p.T77A		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77A(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGCCACCAACACCATCCCTAA	0.532																																						uc010xkj.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(229-231)ACC>GCC		olfactory receptor, family 1, subfamily M,							100.0	74.0	83.0					19																	9204149		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204149A>G		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.229A>G	19.37:g.9204149A>G	ENSP00000401966:p.Thr77Ala						p.T77A	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	229	+			77			Helical; Name=2; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.229A>G	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	a	13.07	2.126370	0.37533	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00711	5.8	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.04272	0.0118	M	0.85197	2.74	0.09310	N	0.999999	D	0.64830	0.994	D	0.70716	0.97	T	0.03453	-1.1035	10	0.87932	D	0	.	11.2666	0.49114	1.0:0.0:0.0:0.0	.	77	Q8NGA1	OR1M1_HUMAN	A	80;77	ENSP00000401966:T77A	ENSP00000303195:T80A	T	+	1	0	OR1M1	9065149	0.000000	0.05858	0.053000	0.19242	0.513000	0.34164	1.267000	0.33050	1.586000	0.49944	0.329000	0.21502	ACC		PASS	0.532	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			21	100	21	100	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12058351	12058351	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:12058351C>T	ENST00000254321.5	+	3	356	c.213C>T	c.(211-213)aaC>aaT	p.N71N	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Silent_p.N53N	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N71N(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGACCAGAACATTGAATATG	0.343																																						uc002msu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)AAC>AAT		zinc finger protein 700							89.0	96.0	94.0					19																	12058351		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12058351C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.213C>T	19.37:g.12058351C>T						ZNF700_uc010xme.1_Silent_p.N89N|ZNF763_uc010xmf.1_Intron	p.N71N	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			3	339	+			71			KRAB.		B9EGU4	Silent	SNP	ENST00000254321.5	37	c.213C>T	CCDS32915.1																																																																																				PASS	0.343	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		87	43	87	43	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12383498	12383498	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:12383498C>A	ENST00000356109.5	-	5	1834	c.1716G>T	c.(1714-1716)agG>agT	p.R572S	ZNF44_ENST00000355684.5_Missense_Mutation_p.R524S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	572					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.R524S(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCGTGTGAGTCCTTTCATGAG	0.408																																						uc010xmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1714-1716)AGG>AGT		zinc finger protein 44 isoform 1							47.0	49.0	48.0					19																	12383498		2114	4265	6379	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383498C>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1716G>T	19.37:g.12383498C>A	ENSP00000348419:p.Arg572Ser					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.R524S	p.R572S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1921	-		Renal(1328;0.157)	572			C2H2-type 14.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1716G>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356197	0.61293	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.24151	1.87;1.87;1.87	1.1	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	N	0.25031	0.7	.	.	.	D;P	0.76494	0.999;0.954	D;P	0.72625	0.978;0.64	T	0.38564	-0.9655	8	0.72032	D	0.01	.	6.4521	0.21910	0.0:0.5396:0.0:0.4604	.	572;524	P15621;F8W7T7	ZNF44_HUMAN;.	S	572;572;524;524	ENSP00000377008:R572S;ENSP00000348419:R572S;ENSP00000347910:R524S	ENSP00000347910:R524S	R	-	3	2	ZNF44	12244498	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	-3.549000	0.00434	-0.569000	0.06030	0.305000	0.20034	AGG		PASS	0.408	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		8	63	8	63	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13002940	13002940	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:13002940G>A	ENST00000222214.5	+	5	493	c.282G>A	c.(280-282)cgG>cgA	p.R94R	GCDH_ENST00000591470.1_Silent_p.R94R|GCDH_ENST00000422947.2_Intron|GCDH_ENST00000457854.1_Silent_p.R94R			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	94			R -> L (in GA1).		cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.R94R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	TTTTTCATCGGGAGATCATTT	0.572																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(280-282)CGG>CGA		glutaryl-Coenzyme A dehydrogenase isoform a							120.0	106.0	111.0					19																	13002940		2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13002940G>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.282G>A	19.37:g.13002940G>A						GCDH_uc010xms.1_Intron|GCDH_uc002mvp.2_Silent_p.R94R|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Intron	p.R94R	NM_000159	NP_000150	Q92947	GCDH_HUMAN			5	359	+			94		R -> L (in GA1).			A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.282G>A	CCDS12286.1																																																																																				PASS	0.572	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			26	95	26	95	---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13039467	13039467	+	Missense_Mutation	SNP	G	G	A	rs376853642		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:13039467G>A	ENST00000314606.4	-	6	625	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	FARSA_ENST00000588025.1_Missense_Mutation_p.R243W|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R172W	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	203					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.R203W(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGCCGGTCCCGCCAAGAGCCA	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13338	0.0		0.0	False		,,,				2504	0.0					uc002mvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)CGG>TGG		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						21.0	21.0	21.0					19																	13039467		2202	4300	6502	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039467G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.607C>T	19.37:g.13039467G>A	ENSP00000320309:p.Arg203Trp					FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R172W|FARSA_uc010dyy.1_Missense_Mutation_p.R124W	p.R203W	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			6	655	-			203					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.607C>T	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739630	0.69304	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.65178	-0.14;0.46	4.94	1.37	0.22104	.	0.056564	0.64402	D	0.000003	T	0.75788	0.3897	M	0.81497	2.545	0.53005	D	0.999962	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.62813	0.907;0.747;0.747	T	0.78409	-0.2215	10	0.87932	D	0	-19.5466	13.071	0.59061	0.0:0.0:0.3108:0.6892	.	172;203;203	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	W	203;172	ENSP00000320309:R203W;ENSP00000396548:R172W	ENSP00000320309:R203W	R	-	1	2	FARSA	12900467	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.783000	0.38664	0.189000	0.20188	0.563000	0.77884	CGG		PASS	0.687	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		24	13	24	13	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15565328	15565328	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:15565328C>T	ENST00000343625.7	-	13	2089	c.2004G>A	c.(2002-2004)ctG>ctA	p.L668L	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	668					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.L668L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CATGTTCCTCCAGGAAGCTAT	0.607											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2002-2004)CTG>CTA		RAS protein activator like 3							107.0	113.0	111.0					19																	15565328		2073	4202	6275	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15565328C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2004G>A	19.37:g.15565328C>T			OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	703	RASAL3_uc002nbd.2_Silent_p.L8L|RASAL3_uc010eaa.1_Silent_p.L156L	p.L668L	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			13	2090	-			668					Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.2004G>A	CCDS46006.1																																																																																				PASS	0.607	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		17	182	17	182	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156530	22156530	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:22156530A>T	ENST00000397126.4	-	4	1454	c.1306T>A	c.(1306-1308)Tgg>Agg	p.W436R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W436R(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGAGGACCAGTTGAAAGCT	0.388																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(1306-1308)TGG>AGG		zinc finger protein 208							77.0	83.0	81.0					19																	22156530		2086	4248	6334	SO:0001583	missense	7757							g.chr19:22156530A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1306T>A	19.37:g.22156530A>T	ENSP00000380315:p.Trp436Arg					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.W436R	NM_007153	NP_009084					4	1455	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1306T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.140	-1.103184	0.01828	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.13657	2.57	2.83	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.18871	0.023	T	0.41215	-0.9521	8	0.23891	T	0.37	.	1.1566	0.01797	0.1656:0.163:0.3992:0.2722	.	436	O43345	ZN208_HUMAN	R	436	ENSP00000380315:W436R	ENSP00000380315:W436R	W	-	1	0	ZNF208	21948370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.206000	0.00558	-0.522000	0.06417	0.254000	0.18369	TGG		PASS	0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		26	115	26	115	---	---	---	---
FAM187B	148109	broad.mit.edu	37	19	35719356	35719356	+	Silent	SNP	G	G	A	rs146665895		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:35719356G>A	ENST00000324675.3	-	1	276	c.228C>T	c.(226-228)ccC>ccT	p.P76P		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	76						integral component of membrane (GO:0016021)		p.P76P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GGCTGCCCTCGGGCATTATTT	0.507																																						uc002nyk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(226-228)CCC>CCT		family with sequence similarity 187, member B		G		1,4405	2.1+/-5.4	0,1,2202	56.0	57.0	57.0		228	-9.1	0.0	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	FAM187B	NM_152481.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		76/370	35719356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35719356G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.228C>T	19.37:g.35719356G>A							p.P76P	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	273	-			76			Extracellular (Potential).		Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.228C>T	CCDS12448.1																																																																																				PASS	0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		46	39	46	39	---	---	---	---
FAM187B	148109	broad.mit.edu	37	19	35719440	35719440	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:35719440C>A	ENST00000324675.3	-	1	192	c.144G>T	c.(142-144)ggG>ggT	p.G48G		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	48						integral component of membrane (GO:0016021)		p.G48G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACCAGTGCGCCCCCGAGGAGT	0.512																																						uc002nyk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(142-144)GGG>GGT		family with sequence similarity 187, member B							64.0	68.0	66.0					19																	35719440		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35719440C>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.144G>T	19.37:g.35719440C>A							p.G48G	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	189	-			48			Extracellular (Potential).		Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.144G>T	CCDS12448.1																																																																																				PASS	0.512	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		35	40	35	40	---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127106	38127106	+	Silent	SNP	A	A	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:38127106A>G	ENST00000351218.2	-	6	893	c.336T>C	c.(334-336)tgT>tgC	p.C112C	ZFP30_ENST00000392144.1_Silent_p.C112C|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Silent_p.C112C	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	112					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.C112C(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCAAGTCCACAGCTTTTAA	0.353																																						uc002ogv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)TGT>TGC		zinc finger protein 30 homolog							64.0	64.0	64.0					19																	38127106		2203	4300	6503	SO:0001819	synonymous_variant	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127106A>G	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.336T>C	19.37:g.38127106A>G						ZFP30_uc002ogw.1_Silent_p.C112C|ZFP30_uc002ogx.1_Silent_p.C112C|ZFP30_uc010xtt.1_Silent_p.C111C	p.C112C	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	852	-			112					Q58EY8	Silent	SNP	ENST00000351218.2	37	c.336T>C	CCDS33005.1																																																																																				PASS	0.353	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		14	44	14	44	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43575978	43575978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:43575978G>A	ENST00000406487.1	-	4	936	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	280	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q280*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCTGATTGCTGAAACTTCCCA	0.448																																						uc002ovr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(838-840)CAG>TAG		pregnancy specific beta-1-glycoprotein 2							191.0	200.0	197.0					19																	43575978		2202	4299	6501	SO:0001587	stop_gained	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575978G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.838C>T	19.37:g.43575978G>A	ENSP00000385706:p.Gln280*					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Nonsense_Mutation_p.Q280*|PSG2_uc010eiq.1_Nonsense_Mutation_p.Q280*|PSG2_uc002ovs.3_Nonsense_Mutation_p.Q280*|PSG2_uc002ovt.3_Nonsense_Mutation_p.Q280*	p.Q280*	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	931	-		Prostate(69;0.00682)	280			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Nonsense_Mutation	SNP	ENST00000406487.1	37	c.838C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.337715	0.41398	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	.	.	.	1.26	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	5.8601	0.18743	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000332984:Q280X	Q	-	1	0	PSG2	48267818	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.512000	0.22755	0.659000	0.30945	0.398000	0.26397	CAG		PASS	0.448	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		106	70	106	70	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43576022	43576022	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:43576022G>C	ENST00000406487.1	-	4	892	c.794C>G	c.(793-795)tCt>tGt	p.S265C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	265	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S265C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGGTGGGTTAGAGTTCGCGAA	0.453																																						uc002ovr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)TCT>TGT		pregnancy specific beta-1-glycoprotein 2							184.0	194.0	190.0					19																	43576022		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576022G>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.794C>G	19.37:g.43576022G>C	ENSP00000385706:p.Ser265Cys					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S265C|PSG2_uc010eiq.1_Missense_Mutation_p.S265C|PSG2_uc002ovs.3_Missense_Mutation_p.S265C|PSG2_uc002ovt.3_Missense_Mutation_p.S265C	p.S265C	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	887	-		Prostate(69;0.00682)	265			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.794C>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495319	0.26774	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.73789	-0.78	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87641	0.6228	H	0.95294	3.65	0.09310	N	1	D;B	0.76494	0.999;0.007	D;B	0.77004	0.989;0.057	T	0.74648	-0.3595	9	0.72032	D	0.01	.	5.8601	0.18743	0.0:0.0:1.0:0.0	.	265;265	B5MCM8;P11465	.;PSG2_HUMAN	C	265	ENSP00000385706:S265C	ENSP00000332984:S265C	S	-	2	0	PSG2	48267862	0.961000	0.32948	0.021000	0.16686	0.033000	0.12548	2.483000	0.45233	0.659000	0.30945	0.398000	0.26397	TCT		PASS	0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		98	79	98	79	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45885788	45885788	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:45885788G>A	ENST00000418234.2	-	12	2523	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	PPP1R13L_ENST00000360957.5_Silent_p.F815F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	815	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.F815F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCTCACCCCGAAGTAGTTCC	0.657																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2443-2445)TTC>TTT		protein phosphatase 1, regulatory subunit 13							43.0	46.0	45.0					19																	45885788		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885788G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2445C>T	19.37:g.45885788G>A						PPP1R13L_uc002pbm.2_Silent_p.F394F|PPP1R13L_uc002pbo.2_Silent_p.F815F	p.F815F	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2522	-		all_neural(266;0.224)|Ovarian(192;0.231)	815			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2445C>T	CCDS33050.1																																																																																				PASS	0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		42	24	42	24	---	---	---	---
SPIB	6689	broad.mit.edu	37	19	50926910	50926910	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:50926910G>C	ENST00000595883.1	+	5	413	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SPIB_ENST00000597855.1_Missense_Mutation_p.R118T|SPIB_ENST00000596074.1_Missense_Mutation_p.R58T|SPIB_ENST00000270632.7_Missense_Mutation_p.E130Q|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.R264T|SPIB_ENST00000439922.2_Missense_Mutation_p.E39Q	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	130					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E130Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGTGCTATCAGAGGAGGAAGA	0.657																																						uc002psd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(388-390)GAG>CAG		Spi-B transcription factor (Spi-1/PU.1 related)							64.0	55.0	58.0					19																	50926910		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926910G>C		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.388G>C	19.37:g.50926910G>C	ENSP00000471921:p.Glu130Gln					SPIB_uc002pse.2_Missense_Mutation_p.E130Q|SPIB_uc010ycc.1_Missense_Mutation_p.E39Q	p.E130Q	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	413	+		all_neural(266;0.131)	130					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.388G>C	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	16.08	3.020408	0.54576	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.59638	0.25;1.86	4.03	4.03	0.46877	.	0.302674	0.24022	N	0.042267	T	0.69033	0.3066	L	0.59436	1.845	0.35788	D	0.822143	D;D;D	0.76494	0.981;0.999;0.981	D;D;D	0.80764	0.932;0.994;0.932	T	0.73199	-0.4058	10	0.34782	T	0.22	-3.0E-4	11.8457	0.52383	0.0:0.0:1.0:0.0	.	39;130;130	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	Q	130;39	ENSP00000270632:E130Q;ENSP00000391877:E39Q	ENSP00000270632:E130Q	E	+	1	0	SPIB	55618722	0.999000	0.42202	0.910000	0.35882	0.333000	0.28666	3.687000	0.54692	2.243000	0.73865	0.462000	0.41574	GAG		PASS	0.657	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		7	17	7	17	---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54822833	54822833	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:54822833T>A	ENST00000301219.3	-	5	682	c.563A>T	c.(562-564)cAg>cTg	p.Q188L	LILRA5_ENST00000446712.3_Missense_Mutation_p.Q176L|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q188L|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q176L|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	188	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q188L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTCAGCTGTGAGTCCAA	0.597																																						uc002qfe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(562-564)CAG>CTG		leukocyte immunoglobulin-like receptor subfamily							54.0	55.0	55.0					19																	54822833		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822833T>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.563A>T	19.37:g.54822833T>A	ENSP00000301219:p.Gln188Leu					LILRA5_uc002qff.2_Missense_Mutation_p.Q176L|LILRA5_uc010yev.1_Missense_Mutation_p.Q188L|LILRA5_uc010yew.1_Missense_Mutation_p.Q176L|LILRA5_uc002qfh.1_Missense_Mutation_p.Q176L|LILRA5_uc002qfg.1_Missense_Mutation_p.Q188L	p.Q188L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	683	-	Ovarian(34;0.19)		188			Extracellular (Potential).|Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.563A>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.419563	0.25552	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	2.61	-0.0121	0.13989	Immunoglobulin-like fold (1);	1.789410	0.04081	U	0.309572	T	0.08802	0.0218	M	0.88105	2.93	0.09310	N	1	B;P;P;P	0.43287	0.2;0.802;0.472;0.593	B;B;B;B	0.40256	0.064;0.324;0.217;0.216	T	0.36625	-0.9740	10	0.87932	D	0	.	2.819	0.05467	0.2584:0.0:0.2645:0.477	.	176;188;176;188	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	L	188;176;176;188	ENSP00000301219:Q188L;ENSP00000302948:Q176L;ENSP00000389499:Q176L;ENSP00000404236:Q188L	ENSP00000301219:Q188L	Q	-	2	0	LILRA5	59514645	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.109000	0.15417	0.222000	0.20900	0.172000	0.16884	CAG		PASS	0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		34	22	34	22	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54845234	54845234	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:54845234C>T	ENST00000291759.4	-	7	1314	c.1258G>A	c.(1258-1260)Gca>Aca	p.A420T	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	420					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A420T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTCTCAGTTGCTCCTAAGAAT	0.488																																						uc002qfj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1258-1260)GCA>ACA		leukocyte immunoglobulin-like receptor subfamily							133.0	114.0	120.0					19																	54845234		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54845234C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1258G>A	19.37:g.54845234C>T	ENSP00000291759:p.Ala420Thr					LILRA4_uc002qfi.2_Missense_Mutation_p.A354T	p.A420T	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	7	1315	-	Ovarian(34;0.19)		420			Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1258G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	5.571	0.290261	0.10567	.	.	ENSG00000239961	ENST00000291759	T	0.00507	6.92	2.84	-0.858	0.10689	.	6.359200	0.00397	N	0.000040	T	0.00356	0.0011	N	0.26042	0.785	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.48139	-0.9061	10	0.18276	T	0.48	.	1.281	0.02040	0.2264:0.4138:0.2215:0.1383	.	420	P59901	LIRA4_HUMAN	T	420	ENSP00000291759:A420T	ENSP00000291759:A420T	A	-	1	0	LILRA4	59537046	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.350000	0.07721	-0.064000	0.13043	0.563000	0.77884	GCA		PASS	0.488	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		43	25	43	25	---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54963343	54963343	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:54963343G>A	ENST00000326764.5	+	3	591	c.112G>A	c.(112-114)Gag>Aag	p.E38K	LENG8_ENST00000376514.2_Splice_Site_p.D38N	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0								p.E38K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGAGAACCCGGAGTGGGAGAA	0.627																																						uc002qfv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(112-114)GAG>AAG		RecName: Full=Leukocyte receptor cluster member 8;							67.0	69.0	69.0					19																	54963343		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54963343G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.112G>A	19.37:g.54963343G>A	ENSP00000318374:p.Glu38Lys					LENG8_uc002qfw.2_Missense_Mutation_p.E38K	p.E38K			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	3	256	+	Ovarian(34;0.19)		38					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.112G>A	CCDS12894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.490698|5.490698	0.96339|0.96339	.|.	.|.	ENSG00000167615|ENSG00000167615	ENST00000376514|ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000436479;ENST00000443957;ENST00000431846	.|T;T;T;T	.|0.66280	.|1.02;-0.2;0.83;0.94	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75774|0.75774	0.3895|0.3895	L|L	0.56769|0.56769	1.78|1.78	0.25616|0.25616	N|N	0.986447|0.986447	.|D;D	.|0.89917	.|0.996;1.0	.|D;D	.|0.85130	.|0.987;0.997	T|T	0.68949|0.68949	-0.5274|-0.5274	6|10	0.87932|0.66056	D|D	0|0.02	-45.3093|-45.3093	15.7377|15.7377	0.77859|0.77859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|38;38	.|Q96PV6-2;F8W9Q9	.|.;.	N|K	38|38;38;38;38;20;38;38	.|ENSP00000318374:E38K;ENSP00000399507:E38K;ENSP00000365709:E38K;ENSP00000388053:E38K	ENSP00000365697:D38N|ENSP00000301196:E38K	D|E	+|+	1|1	0|0	LENG8|LENG8	59655155|59655155	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.942000|0.942000	0.58702|0.58702	8.336000|8.336000	0.90033|0.90033	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	GAC|GAG		PASS	0.627	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		20	57	20	57	---	---	---	---
RDH13	112724	broad.mit.edu	37	19	55558804	55558804	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:55558804C>A	ENST00000415061.3	-	6	854	c.711G>T	c.(709-711)ctG>ctT	p.L237L	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Silent_p.L166L	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	237					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.L237L(1)|p.L166L(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TGTGTCTGCCCAGCTCTGTCC	0.647																																						uc002qio.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(709-711)CTG>CTT		retinol dehydrogenase 13 isoform 1	Vitamin A(DB00162)						53.0	69.0	64.0					19																	55558804		2063	4205	6268	SO:0001819	synonymous_variant	112724						binding|oxidoreductase activity	g.chr19:55558804C>A		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.711G>T	19.37:g.55558804C>A						RDH13_uc002qip.2_Silent_p.L166L|RDH13_uc010esr.1_RNA	p.L237L	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	6	896	-			237					Q6UX79|Q96G88	Silent	SNP	ENST00000415061.3	37	c.711G>T	CCDS54320.1																																																																																				PASS	0.647	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		19	13	19	13	---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58266005	58266005	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:58266005C>G	ENST00000317178.5	+	3	1770	c.1507C>G	c.(1507-1509)Ctc>Gtc	p.L503V	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	503					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.L503V(1)|p.L461V(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AAAGGGAAACCTCATTAAACA	0.423																																						uc002qpx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1507-1509)CTC>GTC		zinc finger protein 776							98.0	88.0	92.0					19																	58266005		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58266005C>G	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1507C>G	19.37:g.58266005C>G	ENSP00000321812:p.Leu503Val					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.L503V	p.L503V	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1730	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	503			C2H2-type 11.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1507C>G	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733275	0.48939	.	.	ENSG00000152443	ENST00000317178	T	0.40476	1.03	1.67	0.488	0.16848	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56920	0.2018	M	0.85197	2.74	0.09310	N	1	D;D	0.63046	0.992;0.959	P;P	0.59487	0.858;0.716	T	0.47275	-0.9130	9	0.87932	D	0	.	3.651	0.08203	0.2455:0.5948:0.0:0.1597	.	503;503	Q68DI1;B4DSC6	ZN776_HUMAN;.	V	503	ENSP00000321812:L503V	ENSP00000321812:L503V	L	+	1	0	ZNF776	62957817	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	0.120000	0.15647	0.032000	0.15435	0.313000	0.20887	CTC		PASS	0.423	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		31	35	31	35	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58596227	58596227	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr19:58596227C>A	ENST00000240727.6	-	7	1757	c.1358G>T	c.(1357-1359)aGc>aTc	p.S453I	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S509I|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S453I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.S317I	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	453					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S509I(1)|p.S453I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGGGCCAGGCTGAAGTGGAA	0.687																																						uc002qri.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1357-1359)AGC>ATC		zinc finger and SCAN domain containing 18							32.0	27.0	29.0					19																	58596227		2196	4295	6491	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596227C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1358G>T	19.37:g.58596227C>A	ENSP00000240727:p.Ser453Ile					ZSCAN18_uc002qrj.3_Missense_Mutation_p.S452I|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S317I|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S453I|ZSCAN18_uc010yht.1_Missense_Mutation_p.S509I|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.S453I	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1667	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	453			C2H2-type 2.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1358G>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642208	0.67244	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.10288	2.89;2.89	3.94	3.94	0.45596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000696	T	0.19167	0.0460	L	0.45285	1.41	0.30623	N	0.758242	D;D;D;D	0.69078	0.991;0.997;0.995;0.991	P;D;P;P	0.64237	0.831;0.923;0.891;0.781	T	0.01574	-1.1321	10	0.59425	D	0.04	-6.9401	7.6476	0.28329	0.0:0.8844:0.0:0.1156	.	509;317;452;453	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	I	509;453;317	ENSP00000240727:S453I;ENSP00000392653:S317I	ENSP00000240727:S453I	S	-	2	0	ZSCAN18	63288039	0.000000	0.05858	0.853000	0.33588	0.936000	0.57629	0.216000	0.17585	2.192000	0.70111	0.561000	0.74099	AGC		PASS	0.687	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		6	6	6	6	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5294818	5294818	+	Silent	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr20:5294818G>A	ENST00000217270.3	-	1	197	c.198C>T	c.(196-198)gtC>gtT	p.V66V	PROKR2_ENST00000546004.1_Silent_p.V66V	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	66					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V66V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGATGCCGCAGACCAGCATGA	0.537										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(196-198)GTC>GTT		prokineticin receptor 2							162.0	132.0	142.0					20																	5294818		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294818G>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.198C>T	20.37:g.5294818G>A		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.V66V|PROKR2_uc010zqy.1_Silent_p.V66V|uc002wly.1_5'Flank	p.V66V	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	198	-			66			Helical; Name=1; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.198C>T	CCDS13089.1																																																																																				PASS	0.537	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		69	54	69	54	---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34501238	34501238	+	Silent	SNP	G	G	A	rs562342256		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr20:34501238G>A	ENST00000374012.3	+	11	1758	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	543	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K543K(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					agccaaagaagaaaaagaaaa	0.348																																						uc002xek.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1627-1629)AAG>AAA		PHD finger protein 20							31.0	32.0	32.0					20																	34501238		2201	4293	6494	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34501238G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1629G>A	20.37:g.34501238G>A						PHF20_uc002xei.1_Silent_p.K543K|PHF20_uc010gfo.1_Silent_p.K543K|PHF20_uc002xej.1_Silent_p.K427K	p.K543K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			11	1740	+	Breast(12;0.00631)|all_lung(11;0.0145)		543			Lys-rich.		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.1629G>A	CCDS13268.1																																																																																				PASS	0.348	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		16	15	16	15	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400992	50400992	+	Missense_Mutation	SNP	T	T	G	rs374406769		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr20:50400992T>G	ENST00000217086.4	-	4	3085	c.2974A>C	c.(2974-2976)Agt>Cgt	p.S992R	SALL4_ENST00000371539.3_Missense_Mutation_p.S215R|SALL4_ENST00000395997.3_Missense_Mutation_p.S555R	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	992					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S992R(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCCCCCACTCTGGATCACA	0.577																																						uc002xwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2974-2976)AGT>CGT		sal-like 4							74.0	71.0	72.0					20																	50400992		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400992T>G	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2974A>C	20.37:g.50400992T>G	ENSP00000217086:p.Ser992Arg					SALL4_uc010gii.2_Missense_Mutation_p.S555R|SALL4_uc002xwi.3_Missense_Mutation_p.S215R	p.S992R	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			4	3075	-			992					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2974A>C	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101658	0.37048	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.45276	0.9;0.9;0.9	4.68	2.41	0.29592	.	0.130363	0.35466	N	0.003189	T	0.48241	0.1489	M	0.78049	2.395	0.42466	D	0.992805	P;B;B	0.47409	0.895;0.028;0.002	P;B;B	0.47470	0.548;0.009;0.005	T	0.49606	-0.8922	10	0.72032	D	0.01	-19.5914	8.5824	0.33637	0.0:0.1591:0.0:0.8409	.	555;215;992	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	R	992;555;215	ENSP00000217086:S992R;ENSP00000379319:S555R;ENSP00000360594:S215R	ENSP00000217086:S992R	S	-	1	0	SALL4	49834399	1.000000	0.71417	0.963000	0.40424	0.728000	0.41692	2.186000	0.42593	0.271000	0.22005	0.454000	0.30748	AGT		PASS	0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			61	51	61	51	---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62322277	62322277	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr20:62322277G>T	ENST00000360203.5	+	27	2858	c.2533G>T	c.(2533-2535)Gcg>Tcg	p.A845S	RTEL1_ENST00000508582.2_Missense_Mutation_p.A869S|RTEL1_ENST00000370003.1_Missense_Mutation_p.A90S|RTEL1_ENST00000370018.3_Missense_Mutation_p.A845S|RTEL1_ENST00000318100.4_Missense_Mutation_p.A845S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A845S					regulator of telomere elongation helicase 1									p.A845S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGAACAGCGGGCGGGGAGCCC	0.682																																						uc002yfu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2533-2535)GCG>TCG		regulator of telomere elongation helicase 1							15.0	16.0	16.0					20																	62322277		2108	4203	6311	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62322277G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2533G>T	20.37:g.62322277G>T	ENSP00000353332:p.Ala845Ser					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.A845S|RTEL1_uc011abd.1_Missense_Mutation_p.A869S|RTEL1_uc011abe.1_Missense_Mutation_p.A622S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.A90S	p.A845S	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		27	2876	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		845	A -> V (in Ref. 4; BAG63785).					Missense_Mutation	SNP	ENST00000360203.5	37	c.2533G>T		.	.	.	.	.	.	.	.	.	.	G	7.440	0.640410	0.14386	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	4.77	2.55	0.30701	.	0.924771	0.09289	N	0.822501	T	0.07143	0.0181	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.29301	0.001;0.241;0.0;0.0	B;B;B;B	0.31946	0.002;0.138;0.0;0.002	T	0.42224	-0.9464	10	0.06494	T	0.89	-14.3363	4.6004	0.12350	0.3371:0.0:0.6629:0.0	.	869;90;845;845	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	S	845;845;869;845;90	ENSP00000359035:A845S;ENSP00000322287:A845S;ENSP00000424307:A869S;ENSP00000353332:A845S;ENSP00000359020:A90S	ENSP00000353332:A845S	A	+	1	0	AL353715.1	61792721	0.049000	0.20398	0.021000	0.16686	0.005000	0.04900	0.923000	0.28757	0.997000	0.38969	0.563000	0.77884	GCG		PASS	0.682	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	6	4	6	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10969127	10969127	+	Splice_Site	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr21:10969127G>A	ENST00000361285.4	-	7	450	c.121C>T	c.(121-123)Cca>Tca	p.P41S	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	41					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.P41S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTGTGTGGGCTAGAGGAT	0.473																																						uc002yip.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(121-123)CCA>TCA		transmembrane phosphatase with tensin homology							145.0	157.0	153.0					21																	10969127		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.chr21:10969127G>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.120-1C>T	21.37:g.10969127G>A						TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.P41S	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)	7	489	-			41					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.121C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	0.172	-1.070542	0.01918	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.95137	-3.62	0.558	-1.12	0.09808	.	0.553031	0.15822	N	0.242946	D	0.86360	0.5914	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70695	-0.4801	9	0.49607	T	0.09	.	.	.	.	.	41	P56180	TPTE_HUMAN	S	41;23	ENSP00000355208:P41S	ENSP00000399471:P23S	P	-	1	0	TPTE	9990998	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.674000	0.01949	-1.668000	0.01471	-2.052000	0.00405	CCA		PASS	0.473	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	13	146	13	146	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46930324	46930324	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr22:46930324G>C	ENST00000262738.3	-	1	2743	c.2744C>G	c.(2743-2745)tCt>tGt	p.S915C	CELSR1_ENST00000395964.1_Missense_Mutation_p.S915C|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	915	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.S915C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCCGTGGCAGAGACCTGGAG	0.597																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2743-2745)TCT>TGT		cadherin EGF LAG seven-pass G-type receptor 1							42.0	34.0	37.0					22																	46930324		2198	4299	6497	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930324G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2744C>G	22.37:g.46930324G>C	ENSP00000262738:p.Ser915Cys						p.S915C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2744	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	915			Extracellular (Potential).|Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2744C>G	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.547094|2.547094	0.45383|0.45383	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.01887	.|4.58;4.58	4.42|4.42	4.42|4.42	0.53409|0.53409	.|Cadherin (4);Cadherin-like (1);	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.16981|0.16981	0.0408|0.0408	M|M	0.90425|0.90425	3.115|3.115	0.39944|0.39944	D|D	0.974455|0.974455	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.05402|0.05402	-1.0887|-1.0887	5|10	.|0.87932	.|D	.|0	.|.	16.8638|16.8638	0.86024|0.86024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|915	.|Q9NYQ6	.|CELR1_HUMAN	V|C	290|915	.|ENSP00000262738:S915C;ENSP00000379293:S915C	.|ENSP00000262738:S915C	L|S	-|-	1|2	2|0	CELSR1|CELSR1	45308988|45308988	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.524000|0.524000	0.34500|0.34500	6.108000|6.108000	0.71522|0.71522	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CTG|TCT		PASS	0.597	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		15	12	15	12	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46930352	46930352	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr22:46930352G>A	ENST00000262738.3	-	1	2715	c.2716C>T	c.(2716-2718)Cca>Tca	p.P906S	CELSR1_ENST00000395964.1_Missense_Mutation_p.P906S|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	906	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.P906S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCGAGGGTGGAGCATCCTCA	0.587																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2716-2718)CCA>TCA		cadherin EGF LAG seven-pass G-type receptor 1							52.0	38.0	43.0					22																	46930352		2200	4300	6500	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930352G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2716C>T	22.37:g.46930352G>A	ENSP00000262738:p.Pro906Ser						p.P906S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2716	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	906			Extracellular (Potential).|Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2716C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516956	0.27123	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01629	4.72;4.72	4.42	4.42	0.53409	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	U	0.000002	T	0.06005	0.0156	L	0.43701	1.375	0.48452	D	0.99965	P	0.51351	0.944	D	0.64687	0.928	T	0.59451	-0.7452	10	0.21014	T	0.42	.	16.8638	0.86024	0.0:0.0:1.0:0.0	.	906	Q9NYQ6	CELR1_HUMAN	S	906	ENSP00000262738:P906S;ENSP00000379293:P906S	ENSP00000262738:P906S	P	-	1	0	CELSR1	45309016	1.000000	0.71417	0.055000	0.19348	0.171000	0.22731	6.079000	0.71291	2.297000	0.77311	0.462000	0.41574	CCA		PASS	0.587	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		8	14	8	14	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13778539	13778539	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chrX:13778539C>T	ENST00000340096.6	+	16	2287	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	OFD1_ENST00000380567.1_Missense_Mutation_p.R514W|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R614W	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	654	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.R654W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAGTTACCATCGGAGAGTCAT	0.478																																						uc004cvp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1960-1962)CGG>TGG		oral-facial-digital syndrome 1							70.0	70.0	70.0					X																	13778539		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778539C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1960C>T	X.37:g.13778539C>T	ENSP00000344314:p.Arg654Trp					OFD1_uc004cvr.3_Missense_Mutation_p.R221W|OFD1_uc011mil.1_Missense_Mutation_p.R221W|OFD1_uc004cvq.3_Missense_Mutation_p.R514W|OFD1_uc010nen.2_Missense_Mutation_p.R653W|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R613W|OFD1_uc004cvv.3_Missense_Mutation_p.R613W	p.R654W	NM_003611	NP_003602	O75665	OFD1_HUMAN			16	2319	+			654			Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1960C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	24.6	4.554723	0.86231	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95853	-3.83;-3.83;-1.71	5.67	4.8	0.61643	.	1.117180	0.06736	N	0.777568	D	0.96340	0.8806	L	0.43152	1.355	0.36496	D	0.868747	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.999	D;D;P;P;D	0.63283	0.913;0.913;0.857;0.731;0.913	D	0.90895	0.4764	10	0.72032	D	0.01	2.6779	10.8217	0.46608	0.1467:0.7151:0.1382:0.0	.	654;614;322;514;654	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	W	614;654;514	ENSP00000369923:R614W;ENSP00000344314:R654W;ENSP00000369941:R514W	ENSP00000344314:R654W	R	+	1	2	OFD1	13688460	0.012000	0.17670	0.005000	0.12908	0.790000	0.44656	2.237000	0.43061	1.147000	0.42369	0.529000	0.55759	CGG		PASS	0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		34	5	34	5	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40551537	40551537	+	Silent	SNP	C	C	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chrX:40551537C>T	ENST00000324817.1	-	15	1996	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	626	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K626K(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTTTGTTTTCTTGGATTCTA	0.353																																						uc004dex.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.(1876-1878)AAG>AAA		mediator complex subunit 14							105.0	88.0	94.0					X																	40551537		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40551537C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1878G>A	X.37:g.40551537C>T							p.K626K	NM_004229	NP_004220	O60244	MED14_HUMAN			15	2018	-			626			Interaction with SREBF1.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1878G>A	CCDS14254.1																																																																																				PASS	0.353	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		24	1	24	1	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50341344	50341344	+	Silent	SNP	C	C	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chrX:50341344C>A	ENST00000289292.7	-	8	4417	c.4134G>T	c.(4132-4134)ctG>ctT	p.L1378L	SHROOM4_ENST00000460112.3_Silent_p.L1262L|SHROOM4_ENST00000483955.1_5'Flank|SHROOM4_ENST00000376020.2_Silent_p.L1378L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1378	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.L1378L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTGACAGCAACAGGTTGACCA	0.522																																						uc004dpe.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(4132-4134)CTG>CTT		shroom family member 4							81.0	64.0	70.0					X																	50341344		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50341344C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4134G>T	X.37:g.50341344C>A						SHROOM4_uc004dpd.3_RNA	p.L1378L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			8	4160	-	Ovarian(276;0.236)		1378			ASD2.		A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.4134G>T	CCDS35277.1																																																																																				PASS	0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		33	1	33	1	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153594531	153594531	+	Silent	SNP	T	T	C			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chrX:153594531T>C	ENST00000369850.3	-	9	1526	c.1290A>G	c.(1288-1290)gtA>gtG	p.V430V	FLNA_ENST00000344736.4_Silent_p.V430V|FLNA_ENST00000422373.1_Silent_p.V430V|FLNA_ENST00000360319.4_Silent_p.V430V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	430					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V430V(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGAGGCTCTACCGTGCCCT	0.682																																						uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(1288-1290)GTA>GTG		filamin A, alpha isoform 2							48.0	54.0	52.0					X																	153594531		2119	4198	6317	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594531T>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1290A>G	X.37:g.153594531T>C						FLNA_uc010nuu.1_Silent_p.V430V	p.V430V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			9	1539	-	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)		430			Filamin 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1290A>G	CCDS48194.1																																																																																				PASS	0.682	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			34	3	34	3	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164761842	164761850	+	In_Frame_Del	DEL	CGGCGGCAG	CGGCGGCAG	-			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr1:164761842_164761850delCGGCGGCAG	ENST00000420696.2	+	3	565_573	c.377_385delCGGCGGCAG	c.(376-387)tcggcggcagcg>tcg	p.AAA133del	PBX1_ENST00000367897.1_In_Frame_Del_p.AAA133del|PBX1_ENST00000540236.1_In_Frame_Del_p.AAA133del|PBX1_ENST00000560641.1_In_Frame_Del_p.AAA28del|PBX1_ENST00000401534.1_In_Frame_Del_p.AAA133del|PBX1_ENST00000559240.1_In_Frame_Del_p.AAA133del|PBX1_ENST00000540246.1_In_Frame_Del_p.AAA28del	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	133	Poly-Ala.				adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCGGAGGGTcggcggcagcggcggcagc	0.627			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	0				soft_tissue(3)|lung(1)|skin(1)	5						c.(376-387)TCGGCGGCAGCG>TCG		pre-B-cell leukemia homeobox 1																																				SO:0001651	inframe_deletion	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761842_164761850delCGGCGGCAG	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.377_385delCGGCGGCAG	1.37:g.164761851_164761859delCGGCGGCAG	ENSP00000405890:p.Ala133_Ala135del					PBX1_uc010pku.1_In_Frame_Del_p.AAA133del|PBX1_uc010pkv.1_In_Frame_Del_p.AAA50del|PBX1_uc001gcs.2_In_Frame_Del_p.AAA133del|PBX1_uc010pkw.1_In_Frame_Del_p.AAA23del	p.AAA133del	NM_002585	NP_002576	P40424	PBX1_HUMAN			3	635_643	+			133_135			Poly-Ala.		B4DSC1|F5H4U9|Q5T488	In_Frame_Del	DEL	ENST00000420696.2	37	c.377_385delCGGCGGCAG	CCDS1246.1																																																																																					0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		39	29	39	29	---	---	---	---
TACR1	6869	broad.mit.edu	37	2	75278458	75278459	+	Frame_Shift_Ins	INS	-	-	T			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr2:75278458_75278459insT	ENST00000305249.5	-	4	1616_1617	c.851_852insA	c.(850-852)cagfs	p.Q284fs	TACR1_ENST00000409848.3_Frame_Shift_Ins_p.Q284fs	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	284					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGTAGACCTGCTGGATAAACTT	0.54																																					Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2																			0				ovary(1)	1						c.(850-852)CAGfs		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)																																			SO:0001589	frameshift_variant	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75278458_75278459insT	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.852dupA	2.37:g.75278459_75278459dupT	ENSP00000303522:p.Gln284fs					TACR1_uc002snh.2_Frame_Shift_Ins_p.Q284fs	p.Q284fs	NM_001058	NP_001049	P25103	NK1R_HUMAN			4	1436_1437	-			284			Helical; Name=7; (Potential).		A8K150	Frame_Shift_Ins	INS	ENST00000305249.5	37	c.851_852insA	CCDS1958.1																																																																																					0.540	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		65	112	65	112	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-	rs529014403	byFrequency	TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr3:195452664delC	ENST00000447234.2	+	2	1316	c.1190delC	c.(1189-1191)accfs	p.T397fs	MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000320736.6_Frame_Shift_Del_p.T226fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													cccca|CCCCC|CCCC|complex_deletion	91	0.0181709	0.0113	0.0317	5008	,	,		25286	0.0		0.0477	False		,,,				2504	0.0061					uc010hzo.2																			0					0						c.(676-678)ACCfs		mucin 20 isoform L			,	39,2389		2,35,1177	3.0	3.0	3.0		,	-0.2	0.0	3		3	243,4923		47,149,2387	no	intron,intron	MUC20	NM_152673.2,NM_001098516.1	,	49,184,3564	A1A1,A1R,RR		4.7038,1.6063,3.7135	,	,	195452664	282,7312	1585	3449	5034	SO:0001589	frameshift_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452664delC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1190delC	3.37:g.195452664delC	ENSP00000414350:p.Thr397fs					MUC20_uc010hzp.2_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_RNA	p.T226fs	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	803	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	397			12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|12; approximate.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37	c.677delC																																																																																						0.587	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		3	3	3	3	---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37553580	37553580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr8:37553580delC	ENST00000331569.4	+	1	312	c.83delC	c.(82-84)gcgfs	p.A28fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	28					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			AAGAGGCCGGCGGTGCCGGCA	0.706																																						uc003xjy.1																			0				breast(1)|pancreas(1)	2						c.(82-84)GCGfs		zinc finger protein 703							4.0	5.0	4.0					8																	37553580		1780	3615	5395	SO:0001589	frameshift_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37553580delC	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.83delC	8.37:g.37553580delC	ENSP00000332325:p.Ala28fs						p.A28fs	NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		1	280	+			28					Q5XG76	Frame_Shift_Del	DEL	ENST00000331569.4	37	c.83delC	CCDS6094.1																																																																																					0.706	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		4	2	4	2	---	---	---	---
LRIT2	340745	broad.mit.edu	37	10	85981876	85981876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:85981876delC	ENST00000372113.4	-	3	1458	c.1453delG	c.(1453-1455)gcafs	p.A486fs	LRIT2_ENST00000538192.1_Frame_Shift_Del_p.A496fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	486						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCTGGGCTGCCCAGGCATAG	0.657																																						uc001kcy.2																			0				ovary(2)	2						c.(1453-1455)GCAfs		leucine rich repeat containing 22 precursor							33.0	37.0	36.0					10																	85981876		2203	4300	6503	SO:0001589	frameshift_variant	340745					integral to membrane		g.chr10:85981876delC		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1453delG	10.37:g.85981876delC	ENSP00000361185:p.Ala486fs					LRIT2_uc010qmc.1_Frame_Shift_Del_p.A495fs	p.A485fs	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1461	-			485			Helical; (Potential).		B7ZME6	Frame_Shift_Del	DEL	ENST00000372113.4	37	c.1453delG	CCDS31234.1																																																																																					0.657	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		44	28	44	28	---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390010	93390011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr10:93390010_93390011insA	ENST00000238994.5	-	2	711_712	c.627_628insT	c.(625-630)ggtggcfs	p.G210fs		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTATCTGTGCCACCATACACAT	0.391																																						uc001kho.2																			0				breast(1)	1						c.(625-630)GGTGGCfs		protein phosphatase 1, regulatory (inhibitor)																																				SO:0001589	frameshift_variant	5507						protein serine/threonine phosphatase activity	g.chr10:93390010_93390011insA	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.628dupT	10.37:g.93390011_93390011dupA	ENSP00000238994:p.Gly210fs						p.G209fs	NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN			2	759_760	-		Colorectal(252;0.235)	209_210			Interaction with EPM2A.|CBM21.			Frame_Shift_Ins	INS	ENST00000238994.5	37	c.627_628insT	CCDS7416.1																																																																																					0.391	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		62	62	62	62	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577519	7577527	+	In_Frame_Del	DEL	GATGGTGAG	GATGGTGAG	-	rs121912653		TCGA-46-6026-01A-11D-1817-08	TCGA-46-6026-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	42a4a60c-257e-4bf6-a9ba-6f162dbca94a	ca8e5a2b-459e-46c9-9818-cc8a71465b1f	g.chr17:7577519_7577527delGATGGTGAG	ENST00000269305.4	-	7	943_951	c.754_762delCTCACCATC	c.(754-762)ctcaccatcdel	p.LTI252del	TP53_ENST00000445888.2_In_Frame_Del_p.LTI252del|TP53_ENST00000359597.4_In_Frame_Del_p.LTI252del|TP53_ENST00000455263.2_In_Frame_Del_p.LTI252del|TP53_ENST00000420246.2_In_Frame_Del_p.LTI252del|TP53_ENST00000413465.2_In_Frame_Del_p.LTI252del|TP53_ENST00000574684.1_5'Flank	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	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (in a sporadic cancer; 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.L252P(10)|p.L252F(9)|p.0?(8)|p.I254V(7)|p.I254F(7)|p.I254S(6)|p.T253S(5)|p.L252fs*93(5)|p.L252del(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.T253N(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.I254T(3)|p.L252delL(3)|p.I254N(3)|p.I255fs*90(3)|p.I254D(3)|p.I255fs*9(3)|p.T253P(3)|p.L252L(3)|p.P250_L252delPIL(2)|p.T253_I255del(2)|p.T253T(2)|p.T253fs*91(2)|p.I254del(2)|p.T253fs*11(2)|p.L252H(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.I254I(1)|p.T253fs*92(1)|p.?(1)|p.I254fs*7(1)|p.I251_L252insX(1)|p.T253del(1)|p.L252fs*12(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*91(1)|p.L252fs*92(1)|p.L252fs*13(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)	CCAGTGTGATGATGGTGAGGATGGGCCTC	0.589		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		137	Substitution - Missense(68)|Deletion - In frame(27)|Deletion - Frameshift(14)|Insertion - Frameshift(12)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - In frame(1)|Unknown(1)	p.L252F(9)|p.I254F(7)|p.L252P(7)|p.0?(7)|p.L252fs*93(6)|p.I254S(5)|p.T253S(5)|p.L252del(5)|p.I254fs*10(5)|p.I254V(4)|p.I251_T253delILT(4)|p.L252_I254delLTI(3)|p.T253I(3)|p.T253A(3)|p.I254T(3)|p.I254N(3)|p.I255fs*90(3)|p.I254D(3)|p.I255fs*9(3)|p.T253P(3)|p.P250_L252delPIL(2)|p.T253_I255del(2)|p.T253T(2)|p.T253fs*91(2)|p.I254del(2)|p.T253fs*11(2)|p.L252H(2)|p.L252_T253delLT(1)|p.T253N(1)|p.P250_T253delPILT(1)|p.I254I(1)|p.T253fs*92(1)|p.?(1)|p.I254fs*7(1)|p.I251_L252insX(1)|p.T253del(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*91(1)|p.L252fs*92(1)|p.L252L(1)	haematopoietic_and_lymphoid_tissue(20)|large_intestine(19)|lung(17)|upper_aerodigestive_tract(14)|stomach(11)|liver(10)|skin(8)|breast(7)|oesophagus(6)|ovary(5)|central_nervous_system(4)|bone(4)|endometrium(3)|peritoneum(2)|prostate(2)|soft_tissue(1)|biliary_tract(1)|small_intestine(1)|kidney(1)|urinary_tract(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	CM900212	TP53	M	rs121912653	c.(754-762)CTCACCATCdel	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7577519_7577527delGATGGTGAG	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.754_762delCTCACCATC	17.37:g.7577519_7577527delGATGGTGAG	ENSP00000269305:p.Leu252_Ile254del	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_In_Frame_Del_p.LTI252del|TP53_uc002gih.2_In_Frame_Del_p.LTI252del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.LTI120del|TP53_uc010cng.1_In_Frame_Del_p.LTI120del|TP53_uc002gii.1_In_Frame_Del_p.LTI120del|TP53_uc010cnh.1_In_Frame_Del_p.LTI252del|TP53_uc010cni.1_In_Frame_Del_p.LTI252del|TP53_uc002gij.2_In_Frame_Del_p.LTI252del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.LTI159del|TP53_uc002gio.2_In_Frame_Del_p.LTI120del	p.LTI252del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	948_956	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	252_254		I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).	|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	In_Frame_Del	DEL	ENST00000269305.4	37	c.754_762delCTCACCATC	CCDS11118.1																																																																																					0.589	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	34	19	34	---	---	---	---
