#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
CFAP74	85452	broad.mit.edu	37	1	1888127	1888127	+	IGR	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:1888127T>A								TMEM52 (37415 upstream) : C1orf222 (31435 downstream)														p.T650S(1)									TTGAAAGTCGTGCCCAAGCCC	0.582																																						uc001aim.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1948-1950)ACG>TCG		hypothetical protein LOC85452							69.0	77.0	74.0					1																	1888127		2160	4271	6431	SO:0001628	intergenic_variant	85452							g.chr1:1888127T>A																													1.37:g.1888127T>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.T650S	p.T650S	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	17	2104	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	650						Missense_Mutation	SNP		37	c.1948A>T		.	.	.	.	.	.	.	.	.	.	T	16.08	3.022856	0.54683	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	4.75	0.60458	.	0.297744	0.26210	N	0.025697	T	0.70037	0.3178	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66606	-0.5881	9	0.14252	T	0.57	-30.0011	12.514	0.56021	0.0:0.0:0.0:1.0	.	650;650	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	S	650;97	.	ENSP00000270720:T650S	T	-	1	0	C1orf222	1877987	1.000000	0.71417	0.993000	0.49108	0.089000	0.18198	3.991000	0.56973	1.905000	0.55150	0.533000	0.62120	ACG	0	PASS	0.582									18	24	18	24	---	---	---	---
KAZN	23254	broad.mit.edu	37	1	14925564	14925564	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:14925564C>T	ENST00000376030.2	+	1	365	c.71C>T	c.(70-72)aCc>aTc	p.T24I	KAZN_ENST00000422387.2_Missense_Mutation_p.T24I|KAZN_ENST00000503743.1_Missense_Mutation_p.T24I	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	24					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.T24I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAGGAGGTGACCAACCTGCGA	0.706																																						uc001avm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)ACC>ATC		kazrin isoform E							27.0	33.0	31.0					1																	14925564		1951	4125	6076	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925564C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.71C>T	1.37:g.14925564C>T	ENSP00000365198:p.Thr24Ile					KAZ_uc009vog.1_Missense_Mutation_p.T24I|KAZ_uc010obj.1_Missense_Mutation_p.T24I	p.T24I	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			1	352	+			24					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.71C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674019	0.47781	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387	T;T;T	0.61742	0.08;0.08;0.08	3.98	3.98	0.46160	.	0.284988	0.20743	U	0.086483	T	0.47135	0.1429	L	0.36672	1.1	0.80722	D	1	P;B	0.45011	0.848;0.027	B;B	0.39258	0.295;0.002	T	0.53920	-0.8370	10	0.56958	D	0.05	-17.186	13.4971	0.61432	0.0:1.0:0.0:0.0	.	24;24	Q674X7-2;Q674X7	.;KAZRN_HUMAN	I	24	ENSP00000365198:T24I;ENSP00000426015:T24I;ENSP00000391728:T24I	ENSP00000365198:T24I	T	+	2	0	KAZN	14798151	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.398000	0.52579	1.739000	0.51704	0.313000	0.20887	ACC		PASS	0.706	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		7	12	7	12	---	---	---	---
NR0B2	8431	broad.mit.edu	37	1	27240233	27240233	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:27240233C>T	ENST00000254227.3	-	1	224	c.199G>A	c.(199-201)Gtg>Atg	p.V67M		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	67	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)	p.V67M(1)		NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAAGGCCACTGTCTTGGCC	0.662																																						uc001bnf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GTG>ATG		short heterodimer partner							21.0	25.0	24.0					1																	27240233		2203	4300	6503	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27240233C>T	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.199G>A	1.37:g.27240233C>T	ENSP00000254227:p.Val67Met						p.V67M	NM_021969	NP_068804	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	335	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	67			Ligand-binding (By similarity).		F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.199G>A	CCDS291.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781407	0.31502	.	.	ENSG00000131910	ENST00000254227	D	0.88277	-2.36	5.41	2.44	0.29823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.118960	0.56097	D	0.000031	D	0.84647	0.5518	L	0.52905	1.665	0.37296	D	0.908498	B	0.31125	0.309	B	0.37550	0.253	T	0.79208	-0.1898	10	0.34782	T	0.22	-15.0938	5.2552	0.15544	0.0:0.4692:0.2807:0.2501	.	67	Q15466	NR0B2_HUMAN	M	67	ENSP00000254227:V67M	ENSP00000254227:V67M	V	-	1	0	NR0B2	27112820	0.000000	0.05858	0.606000	0.28943	0.993000	0.82548	-0.383000	0.07398	0.637000	0.30526	0.561000	0.74099	GTG		PASS	0.662	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			15	8	15	8	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67185073	67185073	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:67185073G>A	ENST00000371037.4	+	19	1804	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E	SGIP1_ENST00000371035.3_Missense_Mutation_p.G366E|SGIP1_ENST00000237247.6_Missense_Mutation_p.G607E|SGIP1_ENST00000371039.1_Missense_Mutation_p.G379E|SGIP1_ENST00000435165.2_Missense_Mutation_p.G81E|SGIP1_ENST00000371036.3_Missense_Mutation_p.G378E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	576	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.G379E(1)|p.G576E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TATTTCAAAGGAGCAGACCCA	0.468																																						uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1726-1728)GGA>GAA		SH3-domain GRB2-like (endophilin) interacting							73.0	66.0	69.0					1																	67185073		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67185073G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1727G>A	1.37:g.67185073G>A	ENSP00000360076:p.Gly576Glu					SGIP1_uc010opd.1_Missense_Mutation_p.G176E|SGIP1_uc001dcs.2_Missense_Mutation_p.G176E|SGIP1_uc001dct.2_Missense_Mutation_p.G178E|SGIP1_uc009wat.2_Missense_Mutation_p.G370E|SGIP1_uc001dcu.2_Missense_Mutation_p.G81E	p.G576E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			19	1944	+			576					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1727G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453294	0.84209	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.4	4.47	0.54385	Muniscin C-terminal mu homology domain (1);	0.113933	0.64402	D	0.000014	T	0.61438	0.2347	M	0.87900	2.915	0.80722	D	1	P;D;D;D;P	0.76494	0.911;0.988;0.998;0.999;0.788	P;P;D;D;P	0.72982	0.845;0.881;0.947;0.979;0.884	T	0.71227	-0.4655	10	0.62326	D	0.03	-8.0024	15.9402	0.79747	0.0:0.1354:0.8646:0.0	.	606;81;178;366;576	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	E	607;379;366;606;579;378;576;81	ENSP00000237247:G607E;ENSP00000360078:G379E;ENSP00000360074:G366E;ENSP00000360075:G378E;ENSP00000360076:G576E;ENSP00000395525:G81E	ENSP00000237247:G607E	G	+	2	0	SGIP1	66957661	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.525000	0.81892	1.235000	0.43724	0.650000	0.86243	GGA		PASS	0.468	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		21	38	21	38	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86959914	86959914	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:86959914G>T	ENST00000234701.3	+	12	2076	c.1725G>T	c.(1723-1725)ttG>ttT	p.L575F	CLCA1_ENST00000394711.1_Missense_Mutation_p.L575F			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	575					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.L575F(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CACAAACCTTGACCCTGACTG	0.488																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1723-1725)TTG>TTT		chloride channel accessory 1 precursor							125.0	108.0	114.0					1																	86959914		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959914G>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1725G>T	1.37:g.86959914G>T	ENSP00000234701:p.Leu575Phe					CLCA1_uc001dls.1_Missense_Mutation_p.L514F	p.L575F	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	11	1854	+		Lung NSC(277;0.239)	575					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1725G>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634812	0.67130	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.35973	1.28;1.28	5.93	0.529	0.17095	Domain of unknown function DUF1973 (1);	0.179170	0.36972	N	0.002313	T	0.33381	0.0861	M	0.80183	2.485	0.32395	N	0.55274	P;P	0.47409	0.895;0.895	P;P	0.55011	0.766;0.766	T	0.17410	-1.0370	10	0.87932	D	0	-11.489	4.6123	0.12408	0.4129:0.2872:0.2998:0.0	.	575;338	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	F	575;575;288	ENSP00000234701:L575F;ENSP00000378200:L575F	ENSP00000234701:L575F	L	+	3	2	CLCA1	86732502	0.974000	0.33945	0.960000	0.40013	0.948000	0.59901	0.030000	0.13688	0.055000	0.16094	0.655000	0.94253	TTG		PASS	0.488	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		25	32	25	32	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92441932	92441932	+	Silent	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:92441932T>C	ENST00000362005.3	+	6	973	c.555T>C	c.(553-555)tcT>tcC	p.S185S	BRDT_ENST00000370389.2_Silent_p.S112S|BRDT_ENST00000394530.3_Silent_p.S139S|BRDT_ENST00000399546.2_Silent_p.S185S|BRDT_ENST00000402388.1_Silent_p.S185S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	185					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.S185S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTAAGACATCTATTTCTCCCT	0.373																																						uc001dok.3																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(553-555)TCT>TCC		testis-specific bromodomain protein							80.0	78.0	79.0					1																	92441932		2203	4300	6503	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92441932T>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.555T>C	1.37:g.92441932T>C						BRDT_uc001dol.3_Silent_p.S185S|BRDT_uc010osz.1_Silent_p.S189S|BRDT_uc009wdf.2_Silent_p.S112S|BRDT_uc010ota.1_Silent_p.S139S|BRDT_uc010otb.1_Silent_p.S139S|BRDT_uc001dom.3_Silent_p.S185S	p.S185S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	5	904	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	185					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.555T>C	CCDS735.1																																																																																				PASS	0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		60	72	60	72	---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92546279	92546279	+	Splice_Site	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:92546279T>A	ENST00000342818.3	+	1	385		c.e1+2		BTBD8_ENST00000540648.1_Splice_Site|BTBD8_ENST00000370382.3_Splice_Site	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8							nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTTGCTCAGGTAGGAGGAGGC	0.632																																						uc001doo.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e1+2		BTB (POZ) domain containing 8							31.0	33.0	32.0					1																	92546279		2203	4300	6503	SO:0001630	splice_region_variant	284697					nucleus		g.chr1:92546279T>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.149+2T>A	1.37:g.92546279T>A						BTBD8_uc010otc.1_Splice_Site	p.R50_splice	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	1	416	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)						Q6V9S5	Splice_Site	SNP	ENST00000342818.3	37	c.149_splice	CCDS737.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507854	0.85282	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9452	0.58369	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD8	92318867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.986000	0.56937	2.156000	0.67533	0.533000	0.62120	.		PASS	0.632	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242	Intron	6	4	6	4	---	---	---	---
RWDD3	25950	broad.mit.edu	37	1	95709967	95709967	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:95709967T>C	ENST00000370202.4	+	2	362	c.286T>C	c.(286-288)Tcg>Ccg	p.S96P	RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000429514.2_Missense_Mutation_p.S81P|RWDD3_ENST00000263893.6_Missense_Mutation_p.S96P|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	96	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S96P(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GAGCCTTTTGTCGGAGCCTAT	0.468																																						uc009wdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)TCG>CCG		RWD domain containing 3 isoform a							108.0	103.0	104.0					1																	95709967		1921	4138	6059	SO:0001583	missense	25950					cytoplasm|nucleus	protein binding	g.chr1:95709967T>C	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.286T>C	1.37:g.95709967T>C	ENSP00000359221:p.Ser96Pro					RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.S81P|RWDD3_uc009wdt.2_Missense_Mutation_p.S96P|RWDD3_uc001drf.3_Missense_Mutation_p.S96P|RWDD3_uc001drh.3_Missense_Mutation_p.S81P|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.S96P	p.S96P	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	2	362	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	96			RWD.		A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	c.286T>C	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	T	2.633	-0.285827	0.05605	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.24151	1.87;1.87;1.87	5.27	2.96	0.34315	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.522291	0.21014	N	0.081622	T	0.13543	0.0328	M	0.75447	2.3	0.09310	N	1	B;B;B;B;B	0.15141	0.005;0.0;0.002;0.012;0.002	B;B;B;B;B	0.16722	0.016;0.001;0.008;0.009;0.005	T	0.25676	-1.0125	10	0.66056	D	0.02	-0.0424	9.5299	0.39187	0.0:0.1436:0.0:0.8564	.	81;96;96;81;96	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	P	96;81;96	ENSP00000359221:S96P;ENSP00000397398:S81P;ENSP00000263893:S96P	ENSP00000263893:S96P	S	+	1	0	RWDD3	95482555	0.978000	0.34361	0.001000	0.08648	0.066000	0.16364	2.031000	0.41117	0.417000	0.25871	0.528000	0.53228	TCG		PASS	0.468	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		73	81	73	81	---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97250688	97250688	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:97250688A>G	ENST00000426398.2	+	8	825	c.782A>G	c.(781-783)aAt>aGt	p.N261S	PTBP2_ENST00000541987.1_Missense_Mutation_p.N230S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.N261S|PTBP2_ENST00000394184.3_Missense_Mutation_p.N272S|PTBP2_ENST00000609116.1_Missense_Mutation_p.N261S|PTBP2_ENST00000370197.1_Missense_Mutation_p.N261S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	261					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N261S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGAATTTGAATGTAAAATAC	0.388																																						uc001drq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)AAT>AGT		polypyrimidine tract binding protein 2							123.0	123.0	123.0					1																	97250688		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97250688A>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.782A>G	1.37:g.97250688A>G	ENSP00000412788:p.Asn261Ser					PTBP2_uc001drn.2_Missense_Mutation_p.N261S|PTBP2_uc001dro.2_Missense_Mutation_p.N261S|PTBP2_uc010otz.1_Missense_Mutation_p.N272S|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.N209S|PTBP2_uc001drr.2_Missense_Mutation_p.N261S|PTBP2_uc010oua.1_Missense_Mutation_p.N269S|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	p.N261S	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	8	1028	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	261					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.782A>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376361	0.82682	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.80994	0.56;0.58;0.57;0.56;0.58;-1.44	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	L	0.46157	1.445	0.80722	D	1	B;P;P;B;B;B	0.38370	0.002;0.494;0.628;0.002;0.001;0.003	B;P;P;B;B;B	0.56343	0.018;0.631;0.796;0.008;0.063;0.026	D	0.83644	0.0152	10	0.52906	T	0.07	.	15.7269	0.77766	1.0:0.0:0.0:0.0	.	269;272;261;261;261;261	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	S	261;261;261;261;272;230;251	ENSP00000236228:N261S;ENSP00000359217:N261S;ENSP00000359216:N261S;ENSP00000412788:N261S;ENSP00000377738:N272S;ENSP00000442475:N230S	ENSP00000236228:N261S	N	+	2	0	PTBP2	97023276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.123000	0.65237	0.482000	0.46254	AAT		PASS	0.388	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			93	132	93	132	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102302451	102302451	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:102302451C>A	ENST00000338858.5	-	2	259	c.260G>T	c.(259-261)cGc>cTc	p.R87L	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R67L|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87L			Q96PB7	NOE3_HUMAN	olfactomedin 3	87					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(259-261)CGC>CTC		olfactomedin 3							125.0	117.0	120.0					1																	102302451		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102302451C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.260G>T	1.37:g.102302451C>A	ENSP00000345192:p.Arg87Leu					OLFM3_uc001dug.2_Missense_Mutation_p.R67L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	p.R87L	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	2	331	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	87			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.260G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.060999	0.93846	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	T;T;T	0.53206	0.63;0.63;0.63	5.62	5.62	0.85841	.	0.055319	0.64402	D	0.000001	T	0.62672	0.2447	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79784	0.91;0.993	T	0.61242	-0.7102	10	0.48119	T	0.1	.	19.2804	0.94051	0.0:1.0:0.0:0.0	.	67;87	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	67;87;87	ENSP00000359121:R67L;ENSP00000345192:R87L;ENSP00000352867:R87L	ENSP00000345192:R87L	R	-	2	0	OLFM3	102075039	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.047000	0.71038	2.639000	0.89480	0.585000	0.79938	CGC		PASS	0.458	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			51	58	51	58	---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109884723	109884723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:109884723G>A	ENST00000256637.6	-	9	1079	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	SORT1_ENST00000538502.1_Nonsense_Mutation_p.Q204*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	341					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.Q341*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GAGGGGAGCTGGGCCATGCTC	0.433																																						uc001dxm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1021-1023)CAG>TAG		sortilin 1 preproprotein							135.0	115.0	122.0					1																	109884723		2203	4300	6503	SO:0001587	stop_gained	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109884723G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1021C>T	1.37:g.109884723G>A	ENSP00000256637:p.Gln341*					SORT1_uc010ovi.1_Nonsense_Mutation_p.Q204*	p.Q341*	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	9	1070	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	341			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Nonsense_Mutation	SNP	ENST00000256637.6	37	c.1021C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	g	40	8.365950	0.98779	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	.	.	.	6.01	6.01	0.97437	.	0.053771	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-11.3813	19.3162	0.94215	0.0:0.0:1.0:0.0	.	.	.	.	X	341;204	.	ENSP00000256637:Q341X	Q	-	1	0	SORT1	109686246	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.144000	0.94629	2.864000	0.98301	0.550000	0.68814	CAG		PASS	0.433	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		62	62	62	62	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145290427	145290427	+	Splice_Site	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:145290427A>T	ENST00000344859.3	+	5	996		c.e5-1		RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369338.1_5'Flank|NBPF10_ENST00000369339.3_Splice_Site|NBPF10_ENST00000342960.5_5'Flank|NOTCH2NL_ENST00000479995.2_3'UTR			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTTTTTGCACAGCAACATGGC	0.393																																						uc001emo.2																			0				ovary(1)	1						c.e5-2		Notch homolog 2 N-terminal like protein							334.0	335.0	335.0					1																	145290427		876	1991	2867	SO:0001630	splice_region_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145290427A>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000344859.3:c.635-1A>T	1.37:g.145290427A>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc010oyh.1_Splice_Site|NBPF10_uc001end.3_5'Flank|NBPF10_uc001emq.1_5'Flank	p.A212_splice	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			5	1005	+								Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Splice_Site	SNP	ENST00000344859.3	37	c.635_splice		.	.	.	.	.	.	.	.	.	.	.	3.337	-0.135388	0.06711	.	.	ENSG00000213240	ENST00000344859	.	.	.	0.566	0.566	0.17317	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	NOTCH2NL	144001784	0.000000	0.05858	0.012000	0.15200	0.185000	0.23345	0.027000	0.13621	0.480000	0.27534	0.155000	0.16302	.		PASS	0.393	NOTCH2NL-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000038544.1	NM_203458	Intron	28	449	28	449	---	---	---	---
SMG5	23381	broad.mit.edu	37	1	156244452	156244452	+	Silent	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:156244452T>A	ENST00000361813.5	-	5	624	c.480A>T	c.(478-480)tcA>tcT	p.S160S	SMG5_ENST00000368267.5_Silent_p.S160S	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	160					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S160S(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCTCCTTCCCTGAGGCAGACA	0.478																																						uc001foc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(478-480)TCA>TCT		SMG5 homolog nonsense mediated mRNA decay							167.0	144.0	152.0					1																	156244452		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156244452T>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.480A>T	1.37:g.156244452T>A							p.S160S	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			5	629	-	Hepatocellular(266;0.158)		160					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.480A>T	CCDS1137.1																																																																																				PASS	0.478	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		145	61	145	61	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159504938	159504938	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:159504938A>G	ENST00000334857.2	-	1	904	c.860T>C	c.(859-861)gTt>gCt	p.V287A		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V287A(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ACTGTAAACAACAGGGTTCAG	0.423																																						uc010piw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(859-861)GTT>GCT		olfactory receptor, family 10, subfamily J,							81.0	77.0	78.0					1																	159504938		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159504938A>G		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.860T>C	1.37:g.159504938A>G	ENSP00000334441:p.Val287Ala						p.V287A	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	860	-	all_hematologic(112;0.0429)		287			Helical; Name=7; (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.860T>C	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895969	0.52121	.	.	ENSG00000184155	ENST00000334857	T	0.39997	1.05	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26231	0.0640	L	0.60012	1.86	0.36715	D	0.880849	P	0.41041	0.736	B	0.38378	0.272	T	0.27773	-1.0064	9	0.72032	D	0.01	.	11.3639	0.49660	1.0:0.0:0.0:0.0	.	287	Q8NHC4	O10J5_HUMAN	A	287	ENSP00000334441:V287A	ENSP00000334441:V287A	V	-	2	0	OR10J5	157771562	0.333000	0.24731	0.901000	0.35422	0.859000	0.49053	4.784000	0.62411	1.834000	0.53371	0.402000	0.26972	GTT		PASS	0.423	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		38	150	38	150	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159505093	159505093	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:159505093C>T	ENST00000334857.2	-	1	749	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235K(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGGCAAAGGTCTTCTTCCGGC	0.473																																						uc010piw.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(703-705)AAG>AAA		olfactory receptor, family 10, subfamily J,							86.0	85.0	85.0					1																	159505093		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505093C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.705G>A	1.37:g.159505093C>T							p.K235K	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	705	-	all_hematologic(112;0.0429)		235			Cytoplasmic (Potential).		B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.705G>A	CCDS30910.1																																																																																				PASS	0.473	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		19	100	19	100	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098476	160098476	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:160098476G>A	ENST00000361216.3	+	9	1141	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R351Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	351					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.R351Q(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)			CGCATGGCACGGAAGAACTGC	0.577																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1051-1053)CGG>CAG		Na+/K+ -ATPase alpha 2 subunit proprotein							101.0	92.0	95.0					1																	160098476		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098476G>A	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.1052G>A	1.37:g.160098476G>A	ENSP00000354490:p.Arg351Gln					ATP1A2_uc001fvb.2_Missense_Mutation_p.R351Q|ATP1A2_uc010piz.1_Missense_Mutation_p.R196Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R87Q|ATP1A2_uc009wtg.1_Missense_Mutation_p.R39Q	p.R351Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1184	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		351			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1052G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.414133|3.414133	0.62511|0.62511	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.89485	.|-2.52;-2.52	4.77|4.77	4.77|4.77	0.60923|0.60923	.|ATPase, P-type, ATPase-associated domain (1);	.|0.059564	.|0.64402	.|D	.|0.000007	D|D	0.84611|0.84611	0.5510|0.5510	L|L	0.55017|0.55017	1.72|1.72	0.42809|0.42809	D|D	0.993951|0.993951	.|P;P;P;P	.|0.42296	.|0.496;0.775;0.734;0.775	.|B;B;B;B	.|0.42062	.|0.146;0.374;0.291;0.374	D|D	0.87287|0.87287	0.2296|0.2296	5|10	.|0.59425	.|D	.|0.04	.|.	16.9484|16.9484	0.86236|0.86236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|196;351;251;351	.|B4DHD7;B1AKY9;F5GXJ7;P50993	.|.;.;.;AT1A2_HUMAN	R|Q	62|196;351;351;54	.|ENSP00000354490:R351Q;ENSP00000376066:R351Q	.|ENSP00000354490:R351Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158365100|158365100	0.699000|0.699000	0.27786|0.27786	0.755000|0.755000	0.31263|0.31263	0.890000|0.890000	0.51754|0.51754	3.970000|3.970000	0.56824|0.56824	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	GGA|CGG		PASS	0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		15	193	15	193	---	---	---	---
LRRC52	440699	broad.mit.edu	37	1	165532887	165532887	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:165532887C>T	ENST00000294818.1	+	2	1058	c.768C>T	c.(766-768)ttC>ttT	p.F256F	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	256					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F256F(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCTGCATCTTCGCCGCGGGAA	0.597																																						uc001gde.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(766-768)TTC>TTT		leucine rich repeat containing 52 precursor							64.0	53.0	57.0					1																	165532887		2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165532887C>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.768C>T	1.37:g.165532887C>T						LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.F256F	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	824	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		256			Helical; (Potential).		A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.768C>T	CCDS30930.1																																																																																				PASS	0.597	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		42	13	42	13	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171765716	171765716	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:171765716G>T	ENST00000361735.3	+	8	2186	c.1920G>T	c.(1918-1920)cgG>cgT	p.R640R	METTL13_ENST00000362019.3_Silent_p.R554R|METTL13_ENST00000458517.1_Silent_p.R639R|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.R484R	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	640							methyltransferase activity (GO:0008168)	p.R640R(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TATATGTCCGGCGAATTGAGG	0.517																																						uc001ghz.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1918-1920)CGG>CGT		CGI-01 protein isoform 1							131.0	118.0	122.0					1																	171765716		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171765716G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1920G>T	1.37:g.171765716G>T						METTL13_uc001gia.2_Silent_p.R554R|METTL13_uc001gib.2_Silent_p.R484R|METTL13_uc010pml.1_Silent_p.R639R|METTL13_uc001gic.1_RNA	p.R640R	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			8	2267	+			640					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1920G>T	CCDS1299.1																																																																																				PASS	0.517	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		86	269	86	269	---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173721005	173721005	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:173721005G>T	ENST00000209884.4	+	4	836	c.700G>T	c.(700-702)Gca>Tca	p.A234S	KLHL20_ENST00000546011.1_Missense_Mutation_p.A45S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	234	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.A234S(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGTGTTCAATGCAGTGATGGC	0.423																																					GBM(159;862 2695 6559 23041)	uc001gjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)GCA>TCA		kelch-like 20							109.0	96.0	100.0					1																	173721005		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173721005G>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.700G>T	1.37:g.173721005G>T	ENSP00000209884:p.Ala234Ser					KLHL20_uc010pmr.1_Missense_Mutation_p.A45S|KLHL20_uc009wwf.2_Missense_Mutation_p.A216S	p.A234S	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			4	879	+			234			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.700G>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312903	0.95655	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.73897	-0.79;-0.79	5.38	5.38	0.77491	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	M	0.74881	2.28	0.80722	D	1	P;D	0.63046	0.913;0.992	P;P	0.61397	0.764;0.888	T	0.81839	-0.0748	10	0.46703	T	0.11	.	17.892	0.88875	0.0:0.0:1.0:0.0	.	45;234	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	45;234	ENSP00000443121:A45S;ENSP00000209884:A234S	ENSP00000209884:A234S	A	+	1	0	KLHL20	171987628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.404000	0.97306	2.490000	0.84030	0.591000	0.81541	GCA		PASS	0.423	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		27	99	27	99	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179478447	179478447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:179478447G>A	ENST00000367618.3	+	21	2792	c.2405G>A	c.(2404-2406)tGg>tAg	p.W802*		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	802								p.W802*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTTATGAATGGATCAACACA	0.353																																						uc001gmo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2404-2406)TGG>TAG		hypothetical protein LOC126859 isoform 1							78.0	73.0	75.0					1																	179478447		2202	4300	6502	SO:0001587	stop_gained	126859							g.chr1:179478447G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2405G>A	1.37:g.179478447G>A	ENSP00000356590:p.Trp802*					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA	p.W802*	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			21	2532	+			802					Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	ENST00000367618.3	37	c.2405G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	43	10.176690	0.99353	.	.	ENSG00000162779	ENST00000367618;ENST00000359183	.	.	.	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2673	13.7958	0.63171	0.0:0.0:1.0:0.0	.	.	.	.	X	802;34	.	ENSP00000352107:W34X	W	+	2	0	AXDND1	177745070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.012000	0.57131	2.532000	0.85374	0.650000	0.86243	TGG		PASS	0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		22	132	22	132	---	---	---	---
CFHR1	3078	broad.mit.edu	37	1	196795988	196795988	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:196795988G>T	ENST00000320493.5	+	3	371	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.G95C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	95	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G95C(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGGAAAATGGTCATTCTGA	0.348																																						uc001gtn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)GGT>TGT		complement factor H-related 1 precursor							105.0	115.0	112.0					1																	196795988		1878	4125	6003	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196795988G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.283G>T	1.37:g.196795988G>T	ENSP00000314299:p.Gly95Cys					CFHR1_uc001gtm.2_Intron	p.G95C	NM_002113	NP_002104	Q03591	FHR1_HUMAN			3	397	+			95			Sushi 2.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.283G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	19.10	3.761820	0.69763	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.70399	-0.48;-0.48	3.37	3.37	0.38596	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.86768	0.6012	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89174	0.3539	9	0.87932	D	0	.	10.4341	0.44424	0.0:0.0:1.0:0.0	.	95	Q03591	FHR1_HUMAN	C	95	ENSP00000356394:G95C;ENSP00000314299:G95C	ENSP00000314299:G95C	G	+	1	0	CFHR1	195062611	0.813000	0.29090	0.960000	0.40013	0.596000	0.36781	1.493000	0.35605	1.891000	0.54761	0.184000	0.17185	GGT		PASS	0.348	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		61	501	61	501	---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197896750	197896750	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:197896750G>A	ENST00000367387.4	+	4	1188	c.763G>A	c.(763-765)Gac>Aac	p.D255N	LHX9_ENST00000367390.3_Missense_Mutation_p.D246N|LHX9_ENST00000337020.2_Missense_Mutation_p.D255N|LHX9_ENST00000561173.1_Missense_Mutation_p.D261N|LHX9_ENST00000367391.1_Missense_Mutation_p.D246N	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	255					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D246N(1)|p.D255N(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGACCACTTGGACCGGGACCA	0.502																																						uc001guk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(763-765)GAC>AAC		LIM homeobox 9 isoform 1							298.0	298.0	298.0					1																	197896750		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896750G>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.763G>A	1.37:g.197896750G>A	ENSP00000356357:p.Asp255Asn					LHX9_uc001gui.1_Missense_Mutation_p.D246N|LHX9_uc001guj.1_Missense_Mutation_p.D261N	p.D255N	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			4	1200	+			255					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.763G>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361323	0.95877	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.95622	0.52;-3.76;0.43;-3.76	5.94	5.94	0.96194	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;0.983;1.0	D;P;D	0.80764	0.987;0.82;0.994	D	0.96864	0.9634	10	0.48119	T	0.1	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	255;246;246	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	N	246;246;255;255	ENSP00000356361:D246N;ENSP00000356360:D246N;ENSP00000337969:D255N;ENSP00000356357:D255N	ENSP00000337969:D255N	D	+	1	0	LHX9	196163373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.807000	0.96579	0.591000	0.81541	GAC		PASS	0.502	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		125	463	125	463	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214171167	214171167	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:214171167C>T	ENST00000366958.4	+	2	1897	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	PROX1_ENST00000261454.4_Missense_Mutation_p.A430V|PROX1_ENST00000498508.2_Missense_Mutation_p.A430V|PROX1_ENST00000435016.1_Missense_Mutation_p.A430V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	430					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A430V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCAGATGGCCAGTTCCACT	0.612																																						uc001hkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1288-1290)GCC>GTC		prospero homeobox 1							96.0	100.0	98.0					1																	214171167		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171167C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1289C>T	1.37:g.214171167C>T	ENSP00000355925:p.Ala430Val					PROX1_uc001hkg.1_Missense_Mutation_p.A430V	p.A430V	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1561	+			430					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1289C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342704	0.24339	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	5.43	0.79202	.	0.162024	0.53938	D	0.000046	T	0.28830	0.0715	N	0.08118	0	0.26912	N	0.96688	B	0.02656	0.0	B	0.09377	0.004	T	0.27839	-1.0062	10	0.59425	D	0.04	-0.7194	19.2456	0.93901	0.0:1.0:0.0:0.0	.	430	Q92786	PROX1_HUMAN	V	2;430;430;430;430	ENSP00000420283:A430V;ENSP00000355925:A430V;ENSP00000400694:A430V;ENSP00000261454:A430V	ENSP00000261454:A430V	A	+	2	0	PROX1	212237790	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.818000	0.86416	2.548000	0.85928	0.591000	0.81541	GCC		PASS	0.612	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		70	196	70	196	---	---	---	---
HLX	3142	broad.mit.edu	37	1	221055663	221055663	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:221055663G>A	ENST00000366903.6	+	3	2431	c.930G>A	c.(928-930)gcG>gcA	p.A310A	HLX_ENST00000549319.1_Silent_p.A96A|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	310					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A310A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCAGCTGGCGGCGATGCTGG	0.632																																						uc001hmv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(928-930)GCG>GCA		H2.0-like homeobox							47.0	42.0	44.0					1																	221055663		2203	4300	6503	SO:0001819	synonymous_variant	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221055663G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.930G>A	1.37:g.221055663G>A							p.A310A	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	3	1387	+			310			Homeobox.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	c.930G>A	CCDS1527.1																																																																																				PASS	0.632	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		9	43	9	43	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237886496	237886496	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:237886496C>T	ENST00000366574.2	+	74	10940	c.10623C>T	c.(10621-10623)acC>acT	p.T3541T	RYR2_ENST00000542537.1_Silent_p.T3525T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.T3539T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3541					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T3539T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGATGATACCTCAGATCCAG	0.393																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10621-10623)ACC>ACT		cardiac muscle ryanodine receptor							178.0	167.0	170.0					1																	237886496		1868	4095	5963	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237886496C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10623C>T	1.37:g.237886496C>T						RYR2_uc010pxz.1_Silent_p.T496T	p.T3541T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10743	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3541					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10623C>T	CCDS55691.1																																																																																				PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		214	112	214	112	---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656438	240656438	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:240656438T>A	ENST00000318160.4	-	2	604	c.338A>T	c.(337-339)gAg>gTg	p.E113V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	113	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)	p.E113V(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGACTCCTCCTCCTTCTTCAC	0.662																																						uc001hys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GAG>GTG		gremlin 2 precursor							59.0	61.0	60.0					1																	240656438		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656438T>A	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.338A>T	1.37:g.240656438T>A	ENSP00000318650:p.Glu113Val						p.E113V	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	618	-		all_cancers(173;0.0196)	113			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.338A>T	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942037	0.53079	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	3.84	0.44239	DAN (1);Cystine knot, C-terminal (2);	0.343519	0.30235	N	0.010085	T	0.38532	0.1044	M	0.69823	2.125	0.53688	D	0.99997	B	0.26602	0.154	B	0.37943	0.261	T	0.18147	-1.0346	10	0.44086	T	0.13	-9.5947	10.4286	0.44393	0.0:0.0774:0.0:0.9226	.	113	Q9H772	GREM2_HUMAN	V	113	ENSP00000318650:E113V	ENSP00000318650:E113V	E	-	2	0	GREM2	238723061	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	3.373000	0.52394	0.745000	0.32763	0.455000	0.32223	GAG		PASS	0.662	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		24	102	24	102	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244218431	244218431	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:244218431G>A	ENST00000358704.4	+	2	1504	c.1355G>A	c.(1354-1356)tGc>tAc	p.C452Y		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	443					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C443Y(1)									TGCACCCAGTGCGGCAAGAGC	0.627																																						uc001iae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1327-1329)TGC>TAC		zinc finger protein 238 isoform 2							58.0	60.0	59.0					1																	244218431		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218431G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1355G>A	1.37:g.244218431G>A	ENSP00000351539:p.Cys452Tyr					ZNF238_uc001iad.3_Missense_Mutation_p.C452Y|ZNF238_uc001iaf.1_3'UTR	p.C443Y	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1850	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		443			C2H2-type 3.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1328G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317016	0.60524	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	D	0.85861	-2.04	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.91768	3.24	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.81914	0.995;0.991	D	0.94936	0.8087	10	0.87932	D	0	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	443;452	Q99592;Q99592-2	ZN238_HUMAN;.	Y	452	ENSP00000351539:C452Y	ENSP00000351539:C452Y	C	+	2	0	ZNF238	242285054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	TGC		PASS	0.627	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		33	90	33	90	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004824	248004824	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:248004824G>T	ENST00000355784.2	-	1	430	c.375C>A	c.(373-375)gcC>gcA	p.A125A		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	125						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGCAGATGGCCAGGTAAC	0.597																																						uc001idn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(373-375)GCC>GCA		olfactory receptor, family 11, subfamily L,							47.0	42.0	43.0					1																	248004824		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004824G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.375C>A	1.37:g.248004824G>T							p.A125A	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	375	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		125			Cytoplasmic (Potential).			Silent	SNP	ENST00000355784.2	37	c.375C>A	CCDS31098.1																																																																																				PASS	0.597	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		34	16	34	16	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616129	248616129	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr1:248616129A>G	ENST00000342927.3	+	1	53	c.31A>G	c.(31-33)Act>Gct	p.T11A		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T11A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCAGAACTCCACTAACTTCGT	0.502																																						uc001iek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(31-33)ACT>GCT		olfactory receptor, family 2, subfamily T,							48.0	58.0	55.0					1																	248616129		2171	4265	6436	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616129A>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.31A>G	1.37:g.248616129A>G	ENSP00000343062:p.Thr11Ala						p.T11A	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	31	+	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)		11			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.31A>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	a	5.613	0.297760	0.10622	.	.	ENSG00000196240	ENST00000342927	T	0.00491	7.02	3.05	3.05	0.35203	.	0.000000	0.49305	D	0.000142	T	0.00440	0.0014	L	0.43554	1.36	0.09310	N	1	B	0.34372	0.451	B	0.31869	0.137	T	0.50575	-0.8812	10	0.46703	T	0.11	.	10.3496	0.43927	1.0:0.0:0.0:0.0	.	11	Q6IF00	OR2T2_HUMAN	A	11	ENSP00000343062:T11A	ENSP00000343062:T11A	T	+	1	0	OR2T2	246682752	.	.	0.044000	0.18714	0.135000	0.20990	.	.	1.248000	0.43934	0.248000	0.18094	ACT		PASS	0.502	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		20	173	20	173	---	---	---	---
COLEC11	78989	broad.mit.edu	37	2	3691564	3691564	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:3691564C>T	ENST00000349077.4	+	7	775	c.672C>T	c.(670-672)acC>acT	p.T224T	COLEC11_ENST00000402922.1_Silent_p.T174T|COLEC11_ENST00000382062.2_Silent_p.T200T|COLEC11_ENST00000402794.1_Silent_p.T174T|COLEC11_ENST00000236693.7_Silent_p.T221T|COLEC11_ENST00000404205.1_Silent_p.T150T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.T238T|COLEC11_ENST00000403096.3_Silent_p.T198T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	224	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.T238T(1)|p.T221T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCATGCGGACCTTCAACAAGT	0.642																																						uc002qya.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(670-672)ACC>ACT		collectin sub-family member 11 isoform a							67.0	77.0	74.0					2																	3691564		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691564C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.672C>T	2.37:g.3691564C>T						COLEC11_uc002qxz.2_Silent_p.T221T|COLEC11_uc002qyb.2_Silent_p.T200T|COLEC11_uc002qyc.2_Silent_p.T200T|COLEC11_uc010ewo.2_Silent_p.T176T|COLEC11_uc010ewp.2_Silent_p.T198T|COLEC11_uc010ewq.2_Silent_p.T174T|COLEC11_uc010ewr.2_Silent_p.T174T|COLEC11_uc010ews.2_Silent_p.T150T	p.T224T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	820	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		224			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.672C>T	CCDS1649.1																																																																																				PASS	0.642	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		37	87	37	87	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7027272	7027272	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:7027272G>T	ENST00000382040.3	+	3	851	c.715G>T	c.(715-717)Gca>Tca	p.A239S	RSAD2_ENST00000541728.1_Missense_Mutation_p.A132S	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.A239S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACAGATCAAAGCACTAAACCC	0.398																																						uc002qyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GCA>TCA		radical S-adenosyl methionine domain containing							71.0	66.0	68.0					2																	7027272		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027272G>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.715G>T	2.37:g.7027272G>T	ENSP00000371471:p.Ala239Ser						p.A239S	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	851	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		239						Missense_Mutation	SNP	ENST00000382040.3	37	c.715G>T	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	0.590	-0.833589	0.02713	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.91686	-2.89;-2.89	5.79	4.83	0.62350	Elongator protein 3/MiaB/NifB (1);	0.617644	0.17527	N	0.171024	D	0.84938	0.5583	N	0.17723	0.515	0.09310	N	1	B	0.17465	0.022	B	0.16722	0.016	T	0.69837	-0.5037	9	.	.	.	-23.5422	13.0909	0.59166	0.0:0.1143:0.7546:0.1311	.	239	Q8WXG1	RSAD2_HUMAN	S	239;132	ENSP00000371471:A239S;ENSP00000440859:A132S	.	A	+	1	0	RSAD2	6944723	0.064000	0.20934	0.054000	0.19295	0.012000	0.07955	2.557000	0.45871	2.735000	0.93741	0.655000	0.94253	GCA		PASS	0.398	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		14	59	14	59	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32754743	32754743	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:32754743A>G	ENST00000421745.2	+	60	12080	c.11946A>G	c.(11944-11946)acA>acG	p.T3982T	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3982					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.T3954T(1)|p.T3982T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAAATGACACTTGCCCAGC	0.373																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11944-11946)ACA>ACG		baculoviral IAP repeat-containing 6							100.0	101.0	100.0					2																	32754743		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32754743A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11946A>G	2.37:g.32754743A>G						MIR558_hsa-mir-558|MI0003564_5'Flank	p.T3982T	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			60	12080	+	Acute lymphoblastic leukemia(172;0.155)		3982					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.11946A>G	CCDS33175.2																																																																																				PASS	0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		46	146	46	146	---	---	---	---
NDUFAF7	55471	broad.mit.edu	37	2	37459294	37459294	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:37459294A>T	ENST00000002125.4	+	2	141	c.101A>T	c.(100-102)gAg>gTg	p.E34V	NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.E34V|CEBPZ_ENST00000234170.5_5'Flank	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	34					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.E34V(1)									TCCGGGAATGAGCCTGCAGAA	0.473																																						uc002rqa.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(100-102)GAG>GTG		hypothetical protein LOC55471 isoform 1							113.0	109.0	111.0					2																	37459294		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37459294A>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.101A>T	2.37:g.37459294A>T	ENSP00000002125:p.Glu34Val					CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.E34V|C2orf56_uc010ynk.1_Missense_Mutation_p.E34V|C2orf56_uc010ynl.1_Missense_Mutation_p.E34V	p.E34V	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			2	176	+		all_hematologic(82;0.21)	34					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.101A>T	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443088	0.43326	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.48201	0.85;0.82	5.45	2.9	0.33743	.	0.411746	0.27172	N	0.020600	T	0.42698	0.1214	M	0.72894	2.215	0.09310	N	1	B;B;B;B	0.28636	0.218;0.041;0.069;0.136	B;B;B;B	0.26969	0.035;0.034;0.075;0.035	T	0.40534	-0.9558	10	0.51188	T	0.08	-10.0482	6.8934	0.24243	0.7732:0.1497:0.0771:0.0	.	34;34;34;34	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	V	34	ENSP00000002125:E34V;ENSP00000337431:E34V	ENSP00000002125:E34V	E	+	2	0	C2orf56	37312798	0.196000	0.23350	0.546000	0.28166	0.748000	0.42578	2.762000	0.47597	0.890000	0.36211	0.455000	0.32223	GAG		PASS	0.473	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		84	186	84	186	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80620414	80620414	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:80620414C>A	ENST00000402739.4	+	7	1140	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q413K|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q379K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q58K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q379K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q379K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q379K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	379					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.Q379K(1)|p.L380I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTAAGGAGACAGGTACTATT	0.338																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1135-1137)CAG>AAG		catenin, alpha 2 isoform 1							81.0	77.0	78.0					2																	80620414		1820	4080	5900	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620414C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1135C>A	2.37:g.80620414C>A	ENSP00000384638:p.Gln379Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q11K	p.Q379K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			7	1140	+			379					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1135C>A		.	.	.	.	.	.	.	.	.	.	C	17.25	3.343048	0.61073	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.84948	2.725	0.80722	D	1	B;D;P;D	0.57257	0.152;0.964;0.955;0.979	B;P;B;P	0.49451	0.029;0.563;0.427;0.611	T	0.64931	-0.6291	9	.	.	.	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	11;379;379;379	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	K	379;379;413;379;379;379;58;44	ENSP00000418191:Q379K;ENSP00000419295:Q379K;ENSP00000355398:Q413K;ENSP00000384638:Q379K;ENSP00000444675:Q379K;ENSP00000441705:Q379K;ENSP00000341500:Q58K;ENSP00000386587:Q44K	.	Q	+	1	0	CTNNA2	80473925	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.342000	0.72982	2.780000	0.95670	0.655000	0.94253	CAG		PASS	0.338	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		50	170	50	170	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103324608	103324608	+	Missense_Mutation	SNP	C	C	A	rs199943468		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:103324608C>A	ENST00000233969.2	+	12	2241	c.2099C>A	c.(2098-2100)gCc>gAc	p.A700D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	700					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A700D(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GACGCAGATGCCGGGACCACC	0.498																																						uc002tca.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(2098-2100)GCC>GAC		solute carrier family 9 (sodium/hydrogen							80.0	86.0	84.0					2																	103324608		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324608C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2099C>A	2.37:g.103324608C>A	ENSP00000233969:p.Ala700Asp						p.A700D	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2241	+			700			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2099C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	5.253	0.232226	0.09969	.	.	ENSG00000115616	ENST00000233969	T	0.55930	0.49	5.39	1.23	0.21249	.	1.179780	0.05995	N	0.646650	T	0.35624	0.0938	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.23302	T	0.38	.	5.0328	0.14419	0.1514:0.6065:0.0:0.242	.	700	Q9UBY0	SL9A2_HUMAN	D	700	ENSP00000233969:A700D	ENSP00000233969:A700D	A	+	2	0	SLC9A2	102691040	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.372000	0.07504	-0.005000	0.14395	0.655000	0.94253	GCC		PASS	0.498	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			59	145	59	145	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125262050	125262050	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:125262050G>T	ENST00000431078.1	+	8	1605	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	414	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G414V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGGGCTCGGGAACCCTGCTG	0.542																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1240-1242)GGA>GTA		contactin associated protein-like 5 precursor							75.0	78.0	77.0					2																	125262050		1962	4157	6119	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262050G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1241G>T	2.37:g.125262050G>T	ENSP00000399013:p.Gly414Val					CNTNAP5_uc010flu.2_Missense_Mutation_p.G415V	p.G414V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1605	+			414			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1241G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971230	0.74246	.	.	ENSG00000155052	ENST00000431078	T	0.79845	-1.31	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000168	D	0.91479	0.7310	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91695	0.5369	10	0.49607	T	0.09	.	18.6837	0.91556	0.0:0.0:1.0:0.0	.	414	Q8WYK1	CNTP5_HUMAN	V	414	ENSP00000399013:G414V	ENSP00000399013:G414V	G	+	2	0	CNTNAP5	124978520	1.000000	0.71417	0.992000	0.48379	0.734000	0.41952	5.019000	0.64060	2.642000	0.89623	0.650000	0.86243	GGA		PASS	0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			25	89	25	89	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832650	130832650	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:130832650C>T	ENST00000409914.2	-	17	2794	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	POTEF_ENST00000357462.5_Missense_Mutation_p.E799K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	799	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E799K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGCTCCTCGGGAGCCACA	0.577																																						uc010fmh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2395-2397)GAG>AAG		prostate, ovary, testis expressed protein on							94.0	101.0	99.0					2																	130832650		2203	4300	6503	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832650C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2395G>A	2.37:g.130832650C>T	ENSP00000386786:p.Glu799Lys						p.E799K	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2795	-			799			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2395G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	17.12	3.307027	0.60305	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.94828	-3.53;-3.53	.	.	.	.	.	.	.	.	D	0.96750	0.8939	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.94553	0.7755	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	799	A5A3E0	POTEF_HUMAN	K	799	ENSP00000350052:E799K;ENSP00000386786:E799K	ENSP00000350052:E799K	E	-	1	0	POTEF	130549120	1.000000	0.71417	0.167000	0.22817	0.169000	0.22640	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GAG		PASS	0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		59	174	59	174	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814051	137814051	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:137814051G>T	ENST00000409968.1	+	3	379	c.201G>T	c.(199-201)tgG>tgT	p.W67C	THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.W67C|THSD7B_ENST00000413152.2_Missense_Mutation_p.W36C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	67	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.W67C(1)|p.W36C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGCAGTGTGGTGTTTTCATG	0.507																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(106-108)TGG>TGT		thrombospondin, type I, domain containing 7B							74.0	80.0	78.0					2																	137814051		2020	4195	6215	SO:0001583	missense	80731							g.chr2:137814051G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.201G>T	2.37:g.137814051G>T	ENSP00000387145:p.Trp67Cys					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.W36C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	108	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.108G>T		.	.	.	.	.	.	.	.	.	.	G	24.7	4.561676	0.86335	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	5.89	0.94794	.	0.094532	0.46442	U	0.000292	T	0.77638	0.4160	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74959	-0.3486	10	0.38643	T	0.18	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	36	C9JKN6	.	C	67;67;36	ENSP00000387145:W67C;ENSP00000272643:W67C;ENSP00000413841:W36C	ENSP00000272643:W67C	W	+	3	0	THSD7B	137530521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.788000	0.95919	0.585000	0.79938	TGG		PASS	0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		32	85	32	85	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555400	155555400	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:155555400T>C	ENST00000295101.2	+	1	590	c.113T>C	c.(112-114)gTg>gCg	p.V38A	KCNJ3_ENST00000544049.1_Missense_Mutation_p.V38A|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	38					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.V38A(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGCAGCTTGTGCCCAAGAAG	0.622																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(112-114)GTG>GCG		potassium inwardly-rectifying channel J3	Halothane(DB01159)						40.0	45.0	43.0					2																	155555400		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555400T>C	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.113T>C	2.37:g.155555400T>C	ENSP00000295101:p.Val38Ala					KCNJ3_uc010zce.1_Missense_Mutation_p.V38A	p.V38A	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	308	+			38			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.113T>C	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	2.621	-0.288599	0.05605	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.91124	-2.31;-2.79	4.39	4.39	0.52855	.	.	.	.	.	T	0.79862	0.4519	N	0.08118	0	0.29958	N	0.819665	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70506	-0.4853	9	0.21014	T	0.42	.	11.603	0.51015	0.0:0.0:0.0:1.0	.	38;38	B4DEW7;P48549	.;IRK3_HUMAN	A	38	ENSP00000295101:V38A;ENSP00000438410:V38A	ENSP00000295101:V38A	V	+	2	0	KCNJ3	155263646	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.559000	0.60796	1.854000	0.53819	0.454000	0.30748	GTG		PASS	0.622	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		18	50	18	50	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035208	160035208	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:160035208G>A	ENST00000263635.6	+	14	2281	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S	TANC1_ENST00000454300.1_Missense_Mutation_p.G576S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	682					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.G682S(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCCCTGAATGGCAAGGCCGA	0.572																																						uc002uag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2044-2046)GGC>AGC		tetratricopeptide repeat, ankyrin repeat and							53.0	57.0	55.0					2																	160035208		2159	4245	6404	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035208G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2044G>A	2.37:g.160035208G>A	ENSP00000263635:p.Gly682Ser					TANC1_uc010fol.1_Missense_Mutation_p.G576S|TANC1_uc010zcm.1_Missense_Mutation_p.G674S|TANC1_uc010fom.1_Missense_Mutation_p.G488S|TANC1_uc002uai.1_RNA	p.G682S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2318	+			682					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2044G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242050	0.95272	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72505	-0.62;-0.66	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.71206	2.165	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.942	D;D;P	0.91635	0.998;0.999;0.751	D	0.84408	0.0564	10	0.62326	D	0.03	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	674;576;682	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	S	576;682	ENSP00000396339:G576S;ENSP00000263635:G682S	ENSP00000263635:G682S	G	+	1	0	TANC1	159743454	1.000000	0.71417	0.984000	0.44739	0.783000	0.44284	9.869000	0.99810	2.813000	0.96785	0.655000	0.94253	GGC		PASS	0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			36	84	36	84	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162087631	162087631	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:162087631A>T	ENST00000392749.2	+	7	909	c.670A>T	c.(670-672)Acc>Tcc	p.T224S	TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.T224S|TANK_ENST00000405852.1_Missense_Mutation_p.T224S|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	224					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.T224S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TGAGGAAGACACCTCTTTTGA	0.433																																						uc002ubr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)ACC>TCC		TRAF interacting protein TANK isoform a							125.0	118.0	120.0					2																	162087631		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162087631A>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.670A>T	2.37:g.162087631A>T	ENSP00000376505:p.Thr224Ser					TANK_uc002ubs.2_Missense_Mutation_p.T224S	p.T224S	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	828	+			224					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.670A>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116879	0.56505	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	T;T;T;T	0.31510	1.94;1.94;1.49;1.49	5.78	5.78	0.91487	.	0.239462	0.42964	D	0.000639	T	0.29716	0.0742	L	0.51422	1.61	0.80722	D	1	B	0.34372	0.451	B	0.31869	0.137	T	0.04005	-1.0985	10	0.25106	T	0.35	-0.3133	16.4053	0.83662	1.0:0.0:0.0:0.0	.	224	Q92844	TANK_HUMAN	S	224;224;224;115	ENSP00000259075:T224S;ENSP00000376505:T224S;ENSP00000385487:T224S;ENSP00000412556:T115S	ENSP00000259075:T224S	T	+	1	0	TANK	161795877	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.686000	0.61700	2.333000	0.79357	0.482000	0.46254	ACC		PASS	0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		64	182	64	182	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059575	163059575	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:163059575A>G	ENST00000188790.4	-	13	1335	c.1128T>C	c.(1126-1128)caT>caC	p.H376H	FAP_ENST00000443424.1_Silent_p.H351H	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.H376H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATAGTGAATATGTTTGTAGC	0.363																																						uc002ucd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1126-1128)CAT>CAC		fibroblast activation protein, alpha subunit							96.0	89.0	92.0					2																	163059575		2203	4300	6503	SO:0001819	synonymous_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163059575A>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1128T>C	2.37:g.163059575A>G						FAP_uc010zct.1_Silent_p.H351H|FAP_uc010fpd.2_Intron	p.H376H	NM_004460	NP_004451	Q12884	SEPR_HUMAN			13	1336	-			376			Extracellular (Potential).			Silent	SNP	ENST00000188790.4	37	c.1128T>C	CCDS33311.1																																																																																				PASS	0.363	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			29	84	29	84	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163174519	163174519	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:163174519G>A	ENST00000263642.2	-	1	694	c.299C>T	c.(298-300)aCg>aTg	p.T100M	IFIH1_ENST00000421365.2_Missense_Mutation_p.T100M|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	100					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.T100M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGGCAAGTCCGTGAGCTCAGG	0.572																																						uc002uce.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)ACG>ATG		interferon induced with helicase C domain 1							103.0	112.0	109.0					2																	163174519		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174519G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.299C>T	2.37:g.163174519G>A	ENSP00000263642:p.Thr100Met					IFIH1_uc002ucf.2_Missense_Mutation_p.T100M	p.T100M	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			1	521	-			100					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.299C>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.254074	0.59212	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	T	0.05925	3.37	5.53	2.39	0.29439	.	0.572756	0.17033	N	0.189633	T	0.10165	0.0249	L	0.54323	1.7	0.09310	N	1	D;P	0.63046	0.992;0.863	P;B	0.49047	0.599;0.198	T	0.13229	-1.0517	10	0.44086	T	0.13	-2.4113	9.2166	0.37351	0.0:0.3998:0.4529:0.1472	.	100;100	Q9BYX4-2;Q9BYX4	.;IFIH1_HUMAN	M	100	ENSP00000263642:T100M	ENSP00000263642:T100M	T	-	2	0	IFIH1	162882765	0.058000	0.20735	0.014000	0.15608	0.858000	0.48976	0.693000	0.25497	0.721000	0.32231	0.655000	0.94253	ACG		PASS	0.572	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		94	204	94	204	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		PASS	0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		49	113	49	113	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179441405	179441405	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:179441405G>A	ENST00000591111.1	-	275	64867	c.64643C>T	c.(64642-64644)gCa>gTa	p.A21548V	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A14316V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A14249V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A14124V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A23189V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A20621V|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21548	Fibronectin type-III 56. {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.A14249V(1)|p.A14316V(1)|p.A20621V(1)|p.A14124V(1)|p.A20619V(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)			TGTTTTTATTGCTCTCACCCA	0.468																																						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.(61861-61863)GCA>GTA		titin isoform N2-A							253.0	245.0	248.0					2																	179441405		1947	4134	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441405G>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.64643C>T	2.37:g.179441405G>A	ENSP00000465570:p.Ala21548Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14316V|TTN_uc010zfi.1_Missense_Mutation_p.A14249V|TTN_uc010zfj.1_Missense_Mutation_p.A14124V|uc002umv.1_5'Flank	p.A20621V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	62086	-			21548					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.61862C>T		.	.	.	.	.	.	.	.	.	.	G	13.08	2.130079	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.72	4.83	0.62350	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39253	0.1071	N	0.17674	0.51	0.58432	D	0.999999	B;B;B;B	0.25048	0.117;0.117;0.117;0.067	B;B;B;B	0.25884	0.064;0.064;0.064;0.044	T	0.34428	-0.9829	9	0.87932	D	0	.	12.416	0.55494	0.1371:0.0:0.8629:0.0	.	14124;14249;14316;21548	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20621;14124;14316;14249;14122	ENSP00000343764:A20621V;ENSP00000434586:A14124V;ENSP00000340554:A14316V;ENSP00000352154:A14249V	ENSP00000340554:A14316V	A	-	2	0	TTN	179149651	1.000000	0.71417	0.996000	0.52242	0.758000	0.43043	5.692000	0.68256	1.533000	0.49186	0.655000	0.94253	GCA		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		145	339	145	339	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179633506	179633506	+	Silent	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:179633506T>C	ENST00000591111.1	-	38	9281	c.9057A>G	c.(9055-9057)aaA>aaG	p.K3019K	TTN_ENST00000342175.6_Silent_p.K2973K|TTN_ENST00000359218.5_Silent_p.K2973K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K2973K|TTN_ENST00000589042.1_Silent_p.K3019K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.K3019K|TTN_ENST00000360870.5_Silent_p.K3019K			Q8WZ42	TITIN_HUMAN	titin	13351	Ig-like 17.				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.K2973K(3)|p.K3019K(3)		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)			GTGTGAGCTTTTTGGTTCTCA	0.418																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	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.(9055-9057)AAA>AAG		titin isoform N2-A							175.0	150.0	159.0					2																	179633506		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633506T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9057A>G	2.37:g.179633506T>C						TTN_uc010zfh.1_Silent_p.K2973K|TTN_uc010zfi.1_Silent_p.K2973K|TTN_uc010zfj.1_Silent_p.K2973K|TTN_uc002unb.2_Silent_p.K3019K	p.K3019K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9281	-			3019					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9057A>G																																																																																					PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	140	49	140	---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182360566	182360566	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:182360566G>A	ENST00000397033.2	+	14	1872	c.1442G>A	c.(1441-1443)aGa>aAa	p.R481K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	481					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.R481K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAGTAAATAGAACGAAATTT	0.373																																						uc002unu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1441-1443)AGA>AAA		integrin alpha 4 precursor	Natalizumab(DB00108)						165.0	148.0	154.0					2																	182360566		1899	4125	6024	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360566G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1442G>A	2.37:g.182360566G>A	ENSP00000380227:p.Arg481Lys					ITGA4_uc010frj.1_5'Flank	p.R481K	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	2205	+			481			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1442G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895189	0.17613	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Integrin alpha-2 (1);	0.169570	0.53938	D	0.000058	T	0.30039	0.0752	L	0.41710	1.295	0.45515	D	0.998476	B	0.30563	0.285	B	0.28011	0.085	T	0.07947	-1.0746	10	0.02654	T	1	.	13.2846	0.60235	0.0723:0.0:0.9277:0.0	.	481	P13612	ITA4_HUMAN	K	481	ENSP00000380227:R481K;ENSP00000233573:R481K	ENSP00000233573:R481K	R	+	2	0	ITGA4	182068811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.550000	0.53691	2.741000	0.93983	0.650000	0.86243	AGA		PASS	0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			62	171	62	171	---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188247906	188247906	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:188247906C>G	ENST00000409998.1	-	6	959	c.178G>C	c.(178-180)Gca>Cca	p.A60P	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.A60P|CALCRL_ENST00000410068.1_Missense_Mutation_p.A60P			Q16602	CALRL_HUMAN	calcitonin receptor-like	60					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.A60P(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTACCTTCTGCTTGTTGAATG	0.338																																						uc002upv.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(178-180)GCA>CCA		calcitonin receptor-like precursor							187.0	177.0	180.0					2																	188247906		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188247906C>G	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.178G>C	2.37:g.188247906C>G	ENSP00000386972:p.Ala60Pro					CALCRL_uc010frt.2_Missense_Mutation_p.A60P	p.A60P	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		5	726	-			60			Extracellular (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.178G>C	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433728	0.25813	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.78	2.38	0.29361	GPCR, family 2, extracellular hormone receptor domain (1);	0.626249	0.13932	N	0.352828	T	0.22044	0.0531	N	0.08118	0	0.24112	N	0.995831	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	10	0.25106	T	0.35	.	3.1241	0.06401	0.2391:0.1538:0.0:0.6071	.	60	Q16602	CALRL_HUMAN	P	60	ENSP00000376177:A60P;ENSP00000386972:A60P;ENSP00000387190:A60P;ENSP00000415626:A60P	ENSP00000376177:A60P	A	-	1	0	CALCRL	187956151	0.003000	0.15002	0.783000	0.31826	0.667000	0.39255	0.160000	0.16462	0.193000	0.20303	0.557000	0.71058	GCA		PASS	0.338	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		74	195	74	195	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878392	197878392	+	Silent	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:197878392C>G	ENST00000328737.2	-	18	1768	c.1692G>C	c.(1690-1692)tcG>tcC	p.S564S	ANKRD44_ENST00000450567.1_Silent_p.S564S|ANKRD44_ENST00000337207.5_Silent_p.S564S|ANKRD44_ENST00000282272.8_Silent_p.S581S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	589								p.S564S(1)|p.S404S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTCCACCAACGACTGCAGAA	0.532																																						uc002uua.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(1690-1692)TCG>TCC		ankyrin repeat domain 44							213.0	200.0	204.0					2																	197878392		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197878392C>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1692G>C	2.37:g.197878392C>G						ANKRD44_uc002utz.3_Silent_p.S296S	p.S564S	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1769	-			589			ANK 17.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1692G>C																																																																																					PASS	0.532	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		112	266	112	266	---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201761925	201761925	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:201761925G>T	ENST00000409020.1	+	5	1147	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	NIF3L1_ENST00000359683.4_Missense_Mutation_p.G258W|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000416651.1_Missense_Mutation_p.G285W|NIF3L1_ENST00000409357.1_Missense_Mutation_p.G285W|NIF3L1_ENST00000409588.1_Intron			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	285					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.G285W(1)|p.G258W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCTTGGGGTGGGGAGAACCTT	0.403																																						uc002uwm.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(853-855)GGG>TGG		NIF3 NGG1 interacting factor 3-like 1 isoform 1							114.0	105.0	108.0					2																	201761925		1885	4118	6003	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201761925G>T	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.853G>T	2.37:g.201761925G>T	ENSP00000386394:p.Gly285Trp					NIF3L1_uc002uwl.2_Missense_Mutation_p.G258W|NIF3L1_uc002uwn.2_Missense_Mutation_p.G258W|NIF3L1_uc002uwo.2_Missense_Mutation_p.G285W|NIF3L1_uc002uwp.2_Missense_Mutation_p.G285W|NIF3L1_uc002uwq.2_Intron	p.G285W	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			5	944	+			285					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.853G>T	CCDS46485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212773|4.212773	0.79352|0.79352	.|.	.|.	ENSG00000196290|ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357|ENST00000436412	T;T;T;T|.	0.51817|.	0.69;0.69;0.69;0.69|.	6.01|6.01	5.12|5.12	0.69794|0.69794	.|.	0.208163|.	0.51477|.	D|.	0.000090|.	D|D	0.84156|0.84156	0.5410|0.5410	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.76494|.	0.999|.	D|.	0.79784|.	0.993|.	D|D	0.87563|0.87563	0.2473|0.2473	10|5	0.87932|.	D|.	0|.	-6.0384|-6.0384	17.0922|17.0922	0.86625|0.86625	0.0:0.1269:0.8731:0.0|0.0:0.1269:0.8731:0.0	.|.	285|.	Q9GZT8|.	NIF3L_HUMAN|.	W|C	285;285;258;285|43	ENSP00000400787:G285W;ENSP00000386394:G285W;ENSP00000352711:G258W;ENSP00000387315:G285W|.	ENSP00000352711:G258W|.	G|W	+|+	1|3	0|0	NIF3L1|NIF3L1	201470170|201470170	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.979000|0.979000	0.70002|0.70002	5.178000|5.178000	0.65037|0.65037	1.507000|1.507000	0.48752|0.48752	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.403	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		72	142	72	142	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214215364	214215364	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:214215364G>T	ENST00000331683.5	+	7	852	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	SPAG16_ENST00000272898.7_Missense_Mutation_p.G253W|SPAG16_ENST00000413312.1_Missense_Mutation_p.G222W|SPAG16_ENST00000374309.3_Missense_Mutation_p.G159W|SPAG16_ENST00000447990.1_Missense_Mutation_p.G253W|SPAG16_ENST00000414961.2_Intron	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	253					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G253W(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAAAGTAGTTGGGCAGGTAAA	0.313																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(757-759)GGG>TGG		sperm associated antigen 16 isoform 1							93.0	90.0	91.0					2																	214215364		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214215364G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.757G>T	2.37:g.214215364G>T	ENSP00000332592:p.Gly253Trp					SPAG16_uc010fuz.1_Missense_Mutation_p.G104W|SPAG16_uc002ver.2_Missense_Mutation_p.G199W|SPAG16_uc010zjk.1_Missense_Mutation_p.G159W|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.G222W	p.G253W	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	7	849	+		Renal(323;0.00461)	253			Potential.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.757G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669820	0.29693	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.58652	0.37;0.32	5.49	2.7	0.31948	.	0.479041	0.23742	N	0.045017	T	0.65657	0.2712	L	0.58101	1.795	0.09310	N	1	D;D;D;P;P	0.69078	0.988;0.997;0.997;0.946;0.938	P;D;D;P;B	0.67548	0.793;0.952;0.924;0.741;0.371	T	0.55860	-0.8074	10	0.87932	D	0	.	5.6574	0.17650	0.175:0.1618:0.6632:0.0	.	159;104;222;193;253	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	W	253;222;253;253;159	ENSP00000332592:G253W;ENSP00000363428:G159W	ENSP00000272898:G253W	G	+	1	0	SPAG16	213923609	0.760000	0.28428	0.001000	0.08648	0.521000	0.34408	1.584000	0.36589	0.287000	0.22375	-0.175000	0.13238	GGG		PASS	0.313	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		30	91	30	91	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217279494	217279494	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:217279494C>G	ENST00000357276.4	+	3	397	c.67C>G	c.(67-69)Cgc>Ggc	p.R23G	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23G	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	23	Mediates interaction with RPA2.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.R23G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GGCTCTGGCCCGCAGAGCTGA	0.498									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(67-69)CGC>GGC		SWI/SNF-related matrix-associated							92.0	104.0	100.0					2																	217279494		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279494C>G	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.67C>G	2.37:g.217279494C>G	ENSP00000349823:p.Arg23Gly					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R23G|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R23G	p.R23G	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	397	+		Renal(323;0.0458)	23			Potential.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.67C>G	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770648	0.69992	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.27053	0.805	0.39204	D	0.963195	D	0.89917	1.0	D	0.85130	0.997	T	0.25467	-1.0131	10	0.87932	D	0	-10.2228	12.086	0.53698	0.2673:0.7327:0.0:0.0	.	23	Q9NZC9	SMAL1_HUMAN	G	23	ENSP00000405077:R23G;ENSP00000349823:R23G;ENSP00000398969:R23G;ENSP00000350940:R23G;ENSP00000402967:R23G	ENSP00000349823:R23G	R	+	1	0	SMARCAL1	216987739	0.993000	0.37304	1.000000	0.80357	0.820000	0.46376	3.171000	0.50824	2.658000	0.90341	0.563000	0.77884	CGC		PASS	0.498	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			77	169	77	169	---	---	---	---
CRYBA2	1412	broad.mit.edu	37	2	219857818	219857818	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:219857818A>G	ENST00000295728.2	-	1	317	c.81T>C	c.(79-81)tgT>tgC	p.C27C	CRYBA2_ENST00000392096.2_Silent_p.C27C|CRYBA2_ENST00000487181.1_5'Flank	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	27	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)	p.C27C(1)		endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTAGCAGCCGACAGCGACGGC	0.716																																						uc002vjj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)TGT>TGC		crystallin, beta A2							23.0	26.0	25.0					2																	219857818		2202	4293	6495	SO:0001819	synonymous_variant	1412						structural constituent of eye lens	g.chr2:219857818A>G		CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.81T>C	2.37:g.219857818A>G						CRYBA2_uc002vjk.1_Silent_p.C27C	p.C27C	NM_057094	NP_476435	P53672	CRBA2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	116	-		Renal(207;0.0474)	27			Beta/gamma crystallin 'Greek key' 1.		Q4ZFX0|Q9Y562	Silent	SNP	ENST00000295728.2	37	c.81T>C	CCDS2429.1																																																																																				PASS	0.716	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1	NM_057093		11	22	11	22	---	---	---	---
FAM124B	79843	broad.mit.edu	37	2	225266335	225266335	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:225266335C>A	ENST00000409685.3	-	1	416	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	FAM124B_ENST00000389874.3_Missense_Mutation_p.V51L|FAM124B_ENST00000243806.2_Missense_Mutation_p.V51L	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	51								p.V51L(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CAGTATTTCACAGGACTGGCC	0.572																																						uc002vnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(151-153)GTG>TTG		hypothetical protein LOC79843 isoform a							50.0	52.0	51.0					2																	225266335		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266335C>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.151G>T	2.37:g.225266335C>A	ENSP00000386895:p.Val51Leu					FAM124B_uc002vnw.2_Missense_Mutation_p.V51L	p.V51L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	377	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	51					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.151G>T	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752276	0.15778	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.40756	1.02;1.02;1.02	5.82	4.94	0.65067	.	0.275863	0.38492	N	0.001665	T	0.29749	0.0743	L	0.44542	1.39	0.09310	N	1	B;B	0.23377	0.084;0.01	B;B	0.22601	0.04;0.006	T	0.24404	-1.0161	10	0.09084	T	0.74	-12.1915	7.8046	0.29195	0.0:0.7098:0.1442:0.146	.	51;51	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	L	51	ENSP00000374524:V51L;ENSP00000386895:V51L;ENSP00000243806:V51L	ENSP00000243806:V51L	V	-	1	0	FAM124B	224974579	0.000000	0.05858	0.047000	0.18901	0.015000	0.08874	0.119000	0.15626	1.473000	0.48159	0.561000	0.74099	GTG		PASS	0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		24	55	24	55	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882360	228882360	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:228882360C>T	ENST00000392056.3	-	7	3256	c.3210G>A	c.(3208-3210)ctG>ctA	p.L1070L	SPHKAP_ENST00000344657.5_Silent_p.L1070L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1070						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L1070L(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTCGCCACTCAGTAACCGAT	0.567																																						uc002vpq.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3208-3210)CTG>CTA		sphingosine kinase type 1-interacting protein							46.0	49.0	48.0					2																	228882360		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882360C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3210G>A	2.37:g.228882360C>T						SPHKAP_uc002vpp.2_Silent_p.L1070L|SPHKAP_uc010zlx.1_Silent_p.L1070L	p.L1070L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3257	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1070					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3210G>A	CCDS46537.1																																																																																				PASS	0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		18	96	18	96	---	---	---	---
OR6B3	150681	broad.mit.edu	37	2	240984557	240984557	+	Silent	SNP	G	G	T	rs201522340	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:240984557G>T	ENST00000319423.4	-	1	932	c.933C>A	c.(931-933)gcC>gcA	p.A311A	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A311A(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TCCCCTCTACGGCGCAGCTCG	0.473																																						uc010zoe.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(931-933)GCC>GCA		olfactory receptor, family 6, subfamily B,							104.0	107.0	106.0					2																	240984557		1849	4095	5944	SO:0001819	synonymous_variant	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240984557G>T		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.933C>A	2.37:g.240984557G>T						PRR21_uc010zod.1_5'Flank	p.A311A	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	933	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	311			Cytoplasmic (Potential).		Q6IFH3	Silent	SNP	ENST00000319423.4	37	c.933C>A	CCDS42837.1																																																																																				PASS	0.473	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			89	106	89	106	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20212600	20212600	+	Silent	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:20212600T>A	ENST00000263753.4	-	7	1546	c.1407A>T	c.(1405-1407)ccA>ccT	p.P469P	SGOL1_ENST00000452020.1_Silent_p.P200P|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000417364.1_Silent_p.P217P|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412997.1_Silent_p.P469P|SGOL1_ENST00000437051.1_Silent_p.P217P|SGOL1_ENST00000442720.1_Silent_p.P200P|SGOL1_ENST00000425061.1_Silent_p.P217P|SGOL1_ENST00000412868.1_Silent_p.P469P|SGOL1_ENST00000421451.1_Silent_p.P469P|SGOL1_ENST00000429446.3_Silent_p.P200P|SGOL1_ENST00000419233.2_Silent_p.P217P|SGOL1_ENST00000306698.2_Silent_p.P200P	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	469					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.P469P(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GAGCCACTGCTGGGCTTGCTT	0.438																																						uc003cbs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1405-1407)CCA>CCT		shugoshin-like 1 isoform A2							58.0	59.0	59.0					3																	20212600		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20212600T>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1407A>T	3.37:g.20212600T>A						SGOL1_uc003cbr.2_Silent_p.P200P|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Silent_p.P217P|SGOL1_uc003cbu.2_Silent_p.P469P|SGOL1_uc003cbv.2_Silent_p.P217P|SGOL1_uc003cbw.2_Silent_p.P200P|SGOL1_uc003cbx.2_Silent_p.P217P|SGOL1_uc003cby.2_Silent_p.P200P|SGOL1_uc003cbz.2_Silent_p.P469P|SGOL1_uc003cca.2_Silent_p.P469P|SGOL1_uc003ccb.2_Silent_p.P217P|SGOL1_uc003ccc.2_Silent_p.P200P	p.P469P	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			7	1594	-			469					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.1407A>T	CCDS33716.1																																																																																				PASS	0.438	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		16	28	16	28	---	---	---	---
GADL1	339896	broad.mit.edu	37	3	30885900	30885900	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:30885900C>A	ENST00000282538.5	-	7	860	c.710G>T	c.(709-711)tGc>tTc	p.C237F	GADL1_ENST00000454381.3_Missense_Mutation_p.C237F	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	237					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.C53F(1)|p.C237F(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTCCACAAAGCAAACATTCTC	0.433																																						uc003cep.2																			2	Substitution - Missense(2)		lung(2)		0						c.(709-711)TGC>TTC		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						184.0	185.0	184.0					3																	30885900		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885900C>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.710G>T	3.37:g.30885900C>A	ENSP00000282538:p.Cys237Phe					GADL1_uc003ceq.1_Missense_Mutation_p.C237F	p.C237F	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			7	757	-			237						Missense_Mutation	SNP	ENST00000282538.5	37	c.710G>T	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862472	0.32884	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.36878	1.23;1.23	5.95	2.8	0.32819	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173935	0.51477	D	0.000093	T	0.10337	0.0253	N	0.00788	-1.185	0.28039	N	0.933845	B	0.02656	0.0	B	0.06405	0.002	T	0.14117	-1.0484	10	0.33141	T	0.24	-15.5692	5.2658	0.15597	0.0:0.423:0.0:0.577	.	237	Q6ZQY3	GADL1_HUMAN	F	237	ENSP00000282538:C237F;ENSP00000427059:C237F	ENSP00000282538:C237F	C	-	2	0	GADL1	30860904	0.981000	0.34729	0.998000	0.56505	0.990000	0.78478	0.468000	0.22051	0.833000	0.34828	0.650000	0.86243	TGC		PASS	0.433	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		108	156	108	156	---	---	---	---
RRP9	9136	broad.mit.edu	37	3	51967584	51967584	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:51967584G>T	ENST00000232888.6	-	15	1439	c.1366C>A	c.(1366-1368)Cgg>Agg	p.R456R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	456					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.R456R(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACAGAATTCCGAGCCTCTTTG	0.572																																						uc003dbw.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(1366-1368)CGG>AGG		RNA, U3 small nucleolar interacting protein 2							80.0	86.0	84.0					3																	51967584		2203	4300	6503	SO:0001819	synonymous_variant	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51967584G>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1366C>A	3.37:g.51967584G>T							p.R456R	NM_004704	NP_004695	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	15	1405	-			456			WD 7.		B2R996|Q8IZ30	Silent	SNP	ENST00000232888.6	37	c.1366C>A	CCDS2837.1																																																																																				PASS	0.572	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		31	33	31	33	---	---	---	---
ACY1	95	broad.mit.edu	37	3	52022593	52022593	+	Silent	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:52022593A>T	ENST00000404366.2	+	13	1121	c.975A>T	c.(973-975)gcA>gcT	p.A325A	ACY1_ENST00000458031.2_Silent_p.A415A|ACY1_ENST00000476351.1_Silent_p.A290A|ACY1_ENST00000494103.1_Silent_p.A253A|ABHD14A-ACY1_ENST00000463937.1_Silent_p.A426A|ACY1_ENST00000476854.1_Silent_p.A260A	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	325					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A325A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CTTGGTGGGCAGCTTTTAGCC	0.597																																						uc003dcp.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(973-975)GCA>GCT		aminoacylase 1	L-Aspartic Acid(DB00128)						113.0	100.0	104.0					3																	52022593		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52022593A>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.975A>T	3.37:g.52022593A>T						ACY1_uc011bea.1_Silent_p.A415A|ACY1_uc003dcq.2_Silent_p.A325A	p.A325A	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	13	1036	+			325					C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	c.975A>T	CCDS2844.1																																																																																				PASS	0.597	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		24	44	24	44	---	---	---	---
WDR82	80335	broad.mit.edu	37	3	52312361	52312361	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:52312361C>G	ENST00000296490.3	-	1	298	c.17G>C	c.(16-18)aGc>aCc	p.S6T		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	6					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)	p.S6T(1)							BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		CCGCAACACGCTGTCGGTCAG	0.687																																						uc003ddl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)AGC>ACC		WD repeat domain 82							37.0	29.0	32.0					3																	52312361		1959	4142	6101	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52312361C>G	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.17G>C	3.37:g.52312361C>G	ENSP00000296490:p.Ser6Thr						p.S6T	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	1	299	-			6					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.17G>C	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313996	0.40996	.	.	ENSG00000164091	ENST00000296490	T	0.65364	-0.15	4.05	3.07	0.35406	.	0.271255	0.41938	D	0.000781	T	0.47154	0.1430	L	0.59912	1.85	0.37432	D	0.914051	B	0.02656	0.0	B	0.04013	0.001	T	0.40572	-0.9556	10	0.12430	T	0.62	-6.9908	2.4701	0.04562	0.274:0.4705:0.0:0.2556	.	6	Q6UXN9	WDR82_HUMAN	T	6	ENSP00000296490:S6T	ENSP00000296490:S6T	S	-	2	0	WDR82	52287401	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.243000	0.51392	2.068000	0.61886	0.462000	0.41574	AGC		PASS	0.687	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		14	10	14	10	---	---	---	---
C3orf52	79669	broad.mit.edu	37	3	111831729	111831729	+	Intron	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:111831729A>G	ENST00000264848.5	+	5	526				C3orf52_ENST00000430855.1_Intron|MIR567_ENST00000385205.1_RNA|C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000467942.2_Intron	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AAACTAAAAAAAAAAAAAGTT	0.333																																						hsa-mir-567|MI0003573																			0					0															47.0	46.0	46.0					3																	111831729		1564	3566	5130	SO:0001627	intron_variant	693152							g.chr3:111831729A>G	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.468-82A>G	3.37:g.111831729A>G						C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron										+								B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	RNA	SNP	ENST00000264848.5	37	c.82A>G	CCDS46887.1																																																																																				PASS	0.333	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		10	27	10	27	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358447	112358447	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:112358447C>T	ENST00000206423.3	-	2	1259	c.306G>A	c.(304-306)gtG>gtA	p.V102V	CCDC80_ENST00000439685.2_Silent_p.V102V|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	102					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.V102V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCTCAGGTCTCACGGCGGCCC	0.607																																						uc003dzf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(304-306)GTG>GTA		steroid-sensitive protein 1 precursor							72.0	70.0	71.0					3																	112358447		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112358447C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.306G>A	3.37:g.112358447C>T						CCDC80_uc011bhv.1_Silent_p.V102V|CCDC80_uc003dzg.2_Silent_p.V102V|CCDC80_uc003dzh.1_Silent_p.V102V	p.V102V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	524	-			102					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.306G>A	CCDS2968.1																																																																																				PASS	0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		32	140	32	140	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113849981	113849981	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:113849981C>T	ENST00000460779.1	-	7	1279	c.990G>A	c.(988-990)atG>atA	p.M330I	DRD3_ENST00000295881.7_Missense_Mutation_p.M297I|DRD3_ENST00000383673.2_Missense_Mutation_p.M330I|DRD3_ENST00000467632.1_Missense_Mutation_p.M330I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	330					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.M330I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAATGGCCACCATTTGGGTTG	0.498																																						uc003ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(988-990)ATG>ATA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						85.0	71.0	76.0					3																	113849981		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113849981C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.990G>A	3.37:g.113849981C>T	ENSP00000419402:p.Met330Ile					DRD3_uc010hqn.1_Missense_Mutation_p.M330I|DRD3_uc003ebb.1_Missense_Mutation_p.M297I|DRD3_uc003ebc.1_Missense_Mutation_p.M330I	p.M330I	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1413	-			330			Helical; Name=6.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.990G>A	CCDS2978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882619|4.882619	0.91740|0.91740	.|.	.|.	ENSG00000151577|ENSG00000151577	ENST00000281274|ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	.|T;T;T;T	.|0.39056	.|1.1;1.1;1.1;1.1	5.52|5.52	5.52|5.52	0.82312|0.82312	.|GPCR, rhodopsin-like superfamily (1);	.|0.098554	.|0.64402	.|D	.|0.000004	T|T	0.60958|0.60958	0.2309|0.2309	M|M	0.63208|0.63208	1.945|1.945	0.80722|0.80722	D|D	1|1	.|P;P;P;B	.|0.41673	.|0.639;0.759;0.759;0.006	.|P;P;P;B	.|0.56216	.|0.648;0.794;0.734;0.07	T|T	0.59021|0.59021	-0.7532|-0.7532	6|10	0.09084|0.62326	T|D	0.74|0.03	.|.	19.2361|19.2361	0.93861|0.93861	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|330;330;330;297	.|A1A4V4;A8K8E4;P35462;E9PCM4	.|.;.;DRD3_HUMAN;.	S|I	298|330;330;330;297	.|ENSP00000419402:M330I;ENSP00000420662:M330I;ENSP00000373169:M330I;ENSP00000295881:M297I	ENSP00000281274:G298S|ENSP00000295881:M297I	G|M	-|-	1|3	0|0	DRD3|DRD3	115332671|115332671	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.968000|0.968000	0.65278|0.65278	7.120000|7.120000	0.77153|0.77153	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GGT|ATG		PASS	0.498	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		129	65	129	65	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621695	118621695	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:118621695C>T	ENST00000393775.2	-	7	1273	c.968G>A	c.(967-969)aGc>aAc	p.S323N	IGSF11_ENST00000491903.1_Missense_Mutation_p.S295N|IGSF11_ENST00000441144.2_Missense_Mutation_p.S298N|IGSF11_ENST00000425327.2_Missense_Mutation_p.S322N|IGSF11_ENST00000489689.1_Missense_Mutation_p.S299N|IGSF11_ENST00000354673.2_Missense_Mutation_p.S322N	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	323					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S322N(1)|p.S323N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGATTGTTGCTCCAGTATCG	0.463																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(967-969)AGC>AAC		immunoglobulin superfamily, member 11 isoform b							138.0	143.0	141.0					3																	118621695		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621695C>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.968G>A	3.37:g.118621695C>T	ENSP00000377370:p.Ser323Asn					IGSF11_uc011biv.1_Missense_Mutation_p.S295N|IGSF11_uc003ebx.2_Missense_Mutation_p.S299N|IGSF11_uc003eby.2_Missense_Mutation_p.S322N|IGSF11_uc003ebz.2_Missense_Mutation_p.S298N|IGSF11_uc010hqs.2_Missense_Mutation_p.S322N	p.S323N	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1215	-			323			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.968G>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926995	0.34002	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83673	-0.93;-1.14;-1.75;-0.93;-1.71;-1.58	5.28	0.498	0.16908	.	0.270220	0.47455	N	0.000232	T	0.57932	0.2087	N	0.02539	-0.55	0.23210	N	0.998117	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.0	T	0.50162	-0.8860	10	0.28530	T	0.3	.	9.6789	0.40059	0.0:0.6003:0.0:0.3997	.	295;298;322;299;323	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	N	322;323;299;322;298;295	ENSP00000406092:S322N;ENSP00000377370:S323N;ENSP00000420486:S299N;ENSP00000346700:S322N;ENSP00000401240:S298N;ENSP00000417413:S295N	ENSP00000346700:S322N	S	-	2	0	IGSF11	120104385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.822000	0.27352	0.198000	0.20407	0.655000	0.94253	AGC		PASS	0.463	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			42	264	42	264	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130656305	130656305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:130656305C>T	ENST00000510168.1	+	6	908	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	ATP2C1_ENST00000328560.8_Nonsense_Mutation_p.Q120*|ATP2C1_ENST00000508532.1_Nonsense_Mutation_p.Q120*|ATP2C1_ENST00000513801.1_Nonsense_Mutation_p.Q104*|ATP2C1_ENST00000428331.2_Nonsense_Mutation_p.Q120*|ATP2C1_ENST00000505330.1_Nonsense_Mutation_p.Q104*|ATP2C1_ENST00000393221.4_Nonsense_Mutation_p.Q154*|ATP2C1_ENST00000359644.3_Nonsense_Mutation_p.Q120*|ATP2C1_ENST00000504381.1_Nonsense_Mutation_p.Q65*|ATP2C1_ENST00000504948.1_Nonsense_Mutation_p.Q104*|ATP2C1_ENST00000422190.2_Nonsense_Mutation_p.Q120*|ATP2C1_ENST00000507488.2_Nonsense_Mutation_p.Q104*|ATP2C1_ENST00000533801.2_Nonsense_Mutation_p.Q115*			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	120					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q120*(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCCTTTGTTCAGGTAAGTAC	0.338									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(358-360)CAG>TAG		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						177.0	157.0	164.0					3																	130656305		2202	4300	6502	SO:0001587	stop_gained	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130656305C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.358C>T	3.37:g.130656305C>T	ENSP00000427461:p.Gln120*					ATP2C1_uc011blg.1_Nonsense_Mutation_p.Q154*|ATP2C1_uc011blh.1_Nonsense_Mutation_p.Q115*|ATP2C1_uc011bli.1_Nonsense_Mutation_p.Q154*|ATP2C1_uc003enk.2_Nonsense_Mutation_p.Q104*|ATP2C1_uc003enm.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enn.2_Nonsense_Mutation_p.Q104*|ATP2C1_uc003eno.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enp.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enq.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enr.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003ens.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003ent.2_Nonsense_Mutation_p.Q120*	p.Q120*	NM_014382	NP_055197	P98194	AT2C1_HUMAN			6	580	+			120			Helical; Name=2; (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Nonsense_Mutation	SNP	ENST00000510168.1	37	c.358C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420413	0.83559	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	.	.	.	X	104;65;104;154;115;120;120;104;104;120;120;120;120;120;119	.	ENSP00000329664:Q120X	Q	+	1	0	ATP2C1	132138995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.833000	0.62766	2.816000	0.96949	0.561000	0.74099	CAG		PASS	0.338	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		39	146	39	146	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147131323	147131323	+	Missense_Mutation	SNP	C	C	G	rs545219481		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:147131323C>G	ENST00000282928.4	+	3	2058	c.1329C>G	c.(1327-1329)aaC>aaG	p.N443K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	443					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N443K(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCAATTTTAACGAATGGTACG	0.473																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1327-1329)AAC>AAG		zinc finger protein of the cerebellum 1							86.0	81.0	82.0					3																	147131323		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131323C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1329C>G	3.37:g.147131323C>G	ENSP00000282928:p.Asn443Lys						p.N443K	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	2048	+			443					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1329C>G	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083592|3.083592	0.55861|0.55861	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000282928|ENST00000488404	T|.	0.13538|.	2.58|.	3.28|3.28	1.71|1.71	0.24356|0.24356	.|.	0.129075|.	0.48767|.	U|.	0.000165|.	T|T	0.69575|0.69575	0.3126|0.3126	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.63880|.	0.993|.	D|.	0.69142|.	0.962|.	T|T	0.65282|0.65282	-0.6206|-0.6206	10|5	0.87932|.	D|.	0|.	.|.	9.1382|9.1382	0.36888|0.36888	0.0:0.8498:0.0:0.1502|0.0:0.8498:0.0:0.1502	.|.	443|.	Q15915|.	ZIC1_HUMAN|.	K|R	443|132	ENSP00000282928:N443K|.	ENSP00000282928:N443K|.	N|T	+|+	3|2	2|0	ZIC1|ZIC1	148614013|148614013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.469000|2.469000	0.45110|0.45110	0.024000|0.024000	0.15214|0.15214	0.462000|0.462000	0.41574|0.41574	AAC|ACG		PASS	0.473	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		34	115	34	115	---	---	---	---
C3orf33	285315	broad.mit.edu	37	3	155481693	155481693	+	Missense_Mutation	SNP	G	G	T	rs115731681	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:155481693G>T	ENST00000340171.2	-	5	596	c.498C>A	c.(496-498)agC>agA	p.S166R	C3orf33_ENST00000534941.1_Missense_Mutation_p.S123R			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	166					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.S117R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGATTCACGCTGAAATATC	0.303																																						uc003fal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)AGC>AGA		hypothetical protein LOC285315							11.0	10.0	10.0					3																	155481693		1764	3949	5713	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155481693G>T	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.498C>A	3.37:g.155481693G>T	ENSP00000342512:p.Ser166Arg					C3orf33_uc003fam.1_Missense_Mutation_p.S166R	p.S123R	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	639	-			123					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.369C>A		.	.	.	.	.	.	.	.	.	.	G	1.508	-0.550308	0.03996	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.25250	1.81;1.81	5.35	-2.05	0.07321	Staphylococcal nuclease (SNase-like) (1);	0.776981	0.12350	N	0.476638	T	0.14527	0.0351	L	0.34521	1.04	0.21604	N	0.999626	P	0.35272	0.493	B	0.34452	0.183	T	0.26087	-1.0113	10	0.21014	T	0.42	-5.5486	6.077	0.19921	0.5865:0.1258:0.2876:0.0	.	166	Q6P1S2	CC033_HUMAN	R	123;166;166	ENSP00000445446:S123R;ENSP00000342512:S166R	ENSP00000342512:S166R	S	-	3	2	C3orf33	156964387	0.003000	0.15002	0.215000	0.23724	0.495000	0.33615	-0.174000	0.09839	-0.561000	0.06094	-0.300000	0.09419	AGC		PASS	0.303	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		5	49	5	49	---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169801789	169801789	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:169801789C>A	ENST00000355897.5	+	4	637	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S10Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAGAACTGCTCTTTTCAGTAC	0.353																																						uc003fgi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)TCT>TAT		G protein-coupled receptor 160							61.0	64.0	63.0					3																	169801789		2202	4293	6495	SO:0001583	missense	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169801789C>A	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.29C>A	3.37:g.169801789C>A	ENSP00000348161:p.Ser10Tyr					GPR160_uc010hwq.2_Missense_Mutation_p.S10Y	p.S10Y	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	619	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		10			Extracellular (Potential).		D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	c.29C>A	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813013	0.70912	.	.	ENSG00000173890	ENST00000355897;ENST00000492492;ENST00000485735;ENST00000482710;ENST00000473675	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.4	5.4	0.78164	.	0.262201	0.31221	N	0.008035	T	0.35624	0.0938	L	0.54323	1.7	0.30815	N	0.738461	D	0.65815	0.995	P	0.60473	0.875	T	0.21008	-1.0258	10	0.87932	D	0	-14.5882	17.3393	0.87291	0.0:1.0:0.0:0.0	.	10	Q9UJ42	GP160_HUMAN	Y	10	ENSP00000348161:S10Y;ENSP00000419546:S10Y;ENSP00000419400:S10Y;ENSP00000420751:S10Y	ENSP00000348161:S10Y	S	+	2	0	GPR160	171284483	1.000000	0.71417	0.999000	0.59377	0.701000	0.40568	3.501000	0.53325	2.518000	0.84900	0.585000	0.79938	TCT		PASS	0.353	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		198	225	198	225	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515753	195515753	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr3:195515753C>T	ENST00000463781.3	-	2	3157	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	MUC4_ENST00000475231.1_Missense_Mutation_p.E900K|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	905	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.E900K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGGCTGTCTCCTGAGGAGAG	0.612																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2698-2700)GAG>AAG		mucin 4 isoform a							76.0	80.0	79.0					3																	195515753		2065	4187	6252	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515753C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2698G>A	3.37:g.195515753C>T	ENSP00000417498:p.Glu900Lys					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.E782K	p.E900K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3158	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	905			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2698G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	6.979	0.550667	0.13374	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.78	1.88	0.25563	.	1.434750	0.04799	N	0.433093	T	0.31918	0.0812	N	0.14661	0.345	0.09310	N	1	P;P	0.47762	0.895;0.9	P;B	0.46850	0.529;0.331	T	0.22243	-1.0222	10	0.07990	T	0.79	-0.7707	4.2004	0.10464	0.0:0.6206:0.2444:0.1349	.	900;905	E7ESK3;Q99102	.;MUC4_HUMAN	K	900;900;874	ENSP00000417498:E900K;ENSP00000420243:E900K	ENSP00000376209:E874K	E	-	1	0	MUC4	197000148	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.087000	0.14958	0.732000	0.32470	-0.263000	0.10527	GAG		PASS	0.612	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		36	39	36	39	---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		PASS	0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		2	10	2	10	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6083357	6083357	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:6083357G>T	ENST00000282924.5	-	6	1565	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	JAKMIP1_ENST00000409371.3_Silent_p.L195L|JAKMIP1_ENST00000409831.1_Silent_p.L360L|JAKMIP1_ENST00000410077.2_Silent_p.L195L|JAKMIP1_ENST00000409021.3_Silent_p.L360L|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	360	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.L360L(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCCCGCGTGAGGTTCTTGA	0.527																																						uc003giu.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1078-1080)CTC>CTA		janus kinase and microtubule interacting protein							183.0	158.0	167.0					4																	6083357		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6083357G>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1080C>A	4.37:g.6083357G>T						JAKMIP1_uc010idb.1_Silent_p.L360L|JAKMIP1_uc010idc.1_Silent_p.L195L|JAKMIP1_uc010idd.1_Silent_p.L360L|JAKMIP1_uc011bwc.1_Silent_p.L195L|JAKMIP1_uc003giv.3_Silent_p.L360L|JAKMIP1_uc010ide.2_Silent_p.L360L	p.L360L	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			6	1356	-			360			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1080C>A	CCDS3385.1																																																																																				PASS	0.527	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		28	122	28	122	---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8108243	8108243	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:8108243G>T	ENST00000341937.5	-	2	196	c.132C>A	c.(130-132)caC>caA	p.H44Q	ABLIM2_ENST00000361737.5_Missense_Mutation_p.H44Q|ABLIM2_ENST00000447017.2_Missense_Mutation_p.H44Q|ABLIM2_ENST00000546334.1_Missense_Mutation_p.H44Q|ABLIM2_ENST00000428004.2_Missense_Mutation_p.H44Q|ABLIM2_ENST00000545242.1_Missense_Mutation_p.H44Q|ABLIM2_ENST00000505872.1_Missense_Mutation_p.H44Q|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.H44Q|ABLIM2_ENST00000296372.8_Missense_Mutation_p.H44Q|ABLIM2_ENST00000407564.3_Missense_Mutation_p.H44Q	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	44	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.H44Q(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						AGCACTTGATGTGGAAGTACT	0.642																																						uc003gko.2																			1	Substitution - Missense(1)		lung(1)	pancreas(3)	3						c.(130-132)CAC>CAA		actin binding LIM protein family, member 2							49.0	57.0	54.0					4																	8108243		2100	4207	6307	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8108243G>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.132C>A	4.37:g.8108243G>T	ENSP00000342813:p.His44Gln					ABLIM2_uc003gkj.3_Missense_Mutation_p.H44Q|ABLIM2_uc003gkm.3_Missense_Mutation_p.H44Q|ABLIM2_uc003gkp.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gkq.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gkr.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gks.3_Missense_Mutation_p.H44Q|ABLIM2_uc011bwl.1_Missense_Mutation_p.H49Q	p.H44Q	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			2	275	-			44			LIM zinc-binding 1.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.132C>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373272	0.61624	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	D;D;D;D;D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	4.02	3.17	0.36434	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	H	0.99732	4.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.963;1.0	D;D;D;D;D;D;P;D	0.97110	0.999;0.998;1.0;1.0;0.997;1.0;0.751;1.0	D	0.97073	0.9779	10	0.87932	D	0	.	4.6266	0.12481	0.2981:0.0:0.7019:0.0	.	49;44;44;44;44;44;44;44	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	Q	44	ENSP00000354887:H44Q;ENSP00000296372:H44Q;ENSP00000441255:H44Q;ENSP00000444365:H44Q;ENSP00000393511:H44Q;ENSP00000342813:H44Q;ENSP00000355003:H44Q;ENSP00000384658:H44Q;ENSP00000421283:H44Q;ENSP00000389410:H44Q	ENSP00000296372:H44Q	H	-	3	2	ABLIM2	8159143	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.219000	0.32479	2.240000	0.73641	0.313000	0.20887	CAC		PASS	0.642	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		9	6	9	6	---	---	---	---
TBC1D19	55296	broad.mit.edu	37	4	26689973	26689973	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:26689973A>T	ENST00000264866.4	+	13	1176	c.898A>T	c.(898-900)Aag>Tag	p.K300*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.K235*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	300	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.K300*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ATAGGATGTGAAGTTGACAGC	0.284																																						uc003gsf.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(898-900)AAG>TAG		TBC1 domain family, member 19							80.0	81.0	81.0					4																	26689973		2201	4285	6486	SO:0001587	stop_gained	55296					intracellular	Rab GTPase activator activity	g.chr4:26689973A>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.898A>T	4.37:g.26689973A>T	ENSP00000264866:p.Lys300*					TBC1D19_uc010iew.2_Nonsense_Mutation_p.K300*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.K235*	p.K300*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			13	1168	+		Breast(46;0.0503)	300			Rab-GAP TBC.		B9A6M0|Q9NUX1	Nonsense_Mutation	SNP	ENST00000264866.4	37	c.898A>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840488	0.71488	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7352	15.5412	0.76048	1.0:0.0:0.0:0.0	.	.	.	.	X	300;235	.	.	K	+	1	0	TBC1D19	26299071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.346000	0.79347	2.367000	0.80283	0.528000	0.53228	AAG		PASS	0.284	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		38	76	38	76	---	---	---	---
CENPC	1060	broad.mit.edu	37	4	68396613	68396613	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:68396613T>A	ENST00000273853.6	-	5	501	c.251A>T	c.(250-252)aAg>aTg	p.K84M		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	84					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.K84M(1)									TGGAACTGACTTTGGATGTGA	0.368																																						uc003hdd.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(250-252)AAG>ATG		centromere protein C 1							66.0	62.0	64.0					4																	68396613		1808	4075	5883	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68396613T>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.251A>T	4.37:g.68396613T>A	ENSP00000273853:p.Lys84Met					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.K84M	p.K84M	NM_001812	NP_001803	Q03188	CENPC_HUMAN			5	434	-			84					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.251A>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885935	0.33348	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.37	4.37	0.52481	.	0.374097	0.22894	N	0.054342	T	0.53722	0.1814	L	0.56769	1.78	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.47262	-0.9131	9	0.87932	D	0	-0.1847	10.1607	0.42849	0.0:0.0:0.0:1.0	.	84;84	Q8IW27;Q03188	.;CENPC_HUMAN	M	84	.	ENSP00000273853:K84M	K	-	2	0	CENPC1	68079208	0.008000	0.16893	0.014000	0.15608	0.425000	0.31504	1.928000	0.40104	1.958000	0.56883	0.533000	0.62120	AAG		PASS	0.368	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			22	11	22	11	---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414486	85414486	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:85414486C>A	ENST00000295886.4	-	3	1281	c.1060G>T	c.(1060-1062)Ggc>Tgc	p.G354C	NKX6-1_ENST00000515820.2_Missense_Mutation_p.G80C	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	354	Involved in DNA-binding. {ECO:0000250}.|Poly-Gly.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G354C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		AGGAGGCCGCCGCCGCCGCCG	0.667																																						uc003hpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)GGC>TGC		NK6 transcription factor related, locus 1							52.0	52.0	52.0					4																	85414486		2203	4300	6503	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414486C>A	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1060G>T	4.37:g.85414486C>A	ENSP00000295886:p.Gly354Cys						p.G354C	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1066	-		Hepatocellular(203;0.114)	354			Poly-Gly.|Involved in DNA-binding (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.1060G>T	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969095	0.34754	.	.	ENSG00000163623	ENST00000295886	D	0.93076	-3.16	1.96	1.96	0.26148	.	0.428985	0.22109	N	0.064502	D	0.83399	0.5246	L	0.29908	0.895	0.28118	N	0.930737	P	0.43542	0.81	B	0.28305	0.088	T	0.78922	-0.2013	10	0.49607	T	0.09	-13.2108	7.4302	0.27124	0.0:1.0:0.0:0.0	.	354	P78426	NKX61_HUMAN	C	354	ENSP00000295886:G354C	ENSP00000295886:G354C	G	-	1	0	NKX6-1	85633510	0.999000	0.42202	0.978000	0.43139	0.811000	0.45836	0.878000	0.28126	1.393000	0.46605	0.313000	0.20887	GGC		PASS	0.667	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		12	31	12	31	---	---	---	---
TUBB7P	56604	broad.mit.edu	37	4	190905449	190905449	+	IGR	SNP	G	G	T	rs563006966	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr4:190905449G>T								FRG1 (21090 upstream) : RNA5SP174 (30843 downstream)														p.P79T(2)									TGCCCGAAGGGCCCCGAGCGC	0.667																																						uc011clg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)CCC>ACC		tubulin, beta polypeptide 4, member Q							28.0	44.0	39.0					4																	190905449		2186	4292	6478	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190905449G>T																													4.37:g.190905449G>T							p.P79T	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	3	238	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	80						Missense_Mutation	SNP		37	c.235C>A																																																																																				0	PASS	0.667									13	56	13	56	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975401	21975401	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:21975401C>T	ENST00000382254.1	-	6	1411	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	CDH12_ENST00000522262.1_Missense_Mutation_p.G109R|CDH12_ENST00000504376.2_Missense_Mutation_p.G109R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G109R(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						TGAATGTCCCCTGTGGTTTCA	0.498										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)GGG>AGG		cadherin 12, type 2 preproprotein							62.0	63.0	63.0					5																	21975401		2042	3860	5902	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975401C>T	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.325G>A	5.37:g.21975401C>T	ENSP00000371689:p.Gly109Arg	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.G109R|CDH12_uc003jgk.2_Missense_Mutation_p.G109R	p.G109R	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	783	-			109			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.325G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462737	0.84425	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.72835	-0.69;-0.69;-0.69	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	H	0.99924	4.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96368	0.9271	10	0.87932	D	0	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	109;109	B7Z2U6;P55289	.;CAD12_HUMAN	R	109	ENSP00000423577:G109R;ENSP00000371689:G109R;ENSP00000428786:G109R	ENSP00000371689:G109R	G	-	1	0	CDH12	22011158	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GGG		PASS	0.498	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		109	197	109	197	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:31323023G>A	ENST00000265071.2	+	12	2246	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D661N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGTTACAACGACGAAGGTGG	0.488																																						uc003jhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1981-1983)GAC>AAC		cadherin 6, type 2 preproprotein							87.0	84.0	85.0					5																	31323023		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323023G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1981G>A	5.37:g.31323023G>A	ENSP00000265071:p.Asp661Asn						p.D661N	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2307	+			661			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1981G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453864	0.96223	.	.	ENSG00000113361	ENST00000265071	D	0.82984	-1.67	5.52	5.52	0.82312	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94788	0.7959	10	0.87932	D	0	.	19.8024	0.96513	0.0:0.0:1.0:0.0	.	661	P55285	CADH6_HUMAN	N	661	ENSP00000265071:D661N	ENSP00000265071:D661N	D	+	1	0	CDH6	31358780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.721000	0.98766	2.752000	0.94435	0.655000	0.94253	GAC		PASS	0.488	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		57	114	57	114	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382178	41382178	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:41382178C>A	ENST00000377801.3	-	2	636	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D188Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	188	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.D188Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTTGATAGTCCTTCTCCCAC	0.488																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(562-564)GAC>TAC		phosphatidylinositol-specific phospholipase C, X							84.0	80.0	81.0					5																	41382178		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382178C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.562G>T	5.37:g.41382178C>A	ENSP00000367032:p.Asp188Tyr						p.D188Y	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	664	-			188			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.562G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077989	0.55753	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.81	4.93	0.64822	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.392030	0.33092	N	0.005285	T	0.44498	0.1296	N	0.24115	0.695	0.44323	D	0.9972	P	0.43231	0.801	P	0.45377	0.478	T	0.47911	-0.9080	9	0.72032	D	0.01	-7.9536	11.3341	0.49494	0.0:0.8597:0.0:0.1403	.	188	Q63HM9	PLCX3_HUMAN	Y	188	.	ENSP00000333751:D188Y	D	-	1	0	PLCXD3	41417935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.101000	0.50283	1.423000	0.47198	0.655000	0.94253	GAC		PASS	0.488	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		116	182	116	182	---	---	---	---
NIM1K	167359	broad.mit.edu	37	5	43280396	43280396	+	Silent	SNP	G	G	A	rs143914564	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:43280396G>A	ENST00000512796.1	+	4	2375	c.876G>A	c.(874-876)ccG>ccA	p.P292P	NIM1_ENST00000326035.2_Silent_p.P292P			Q8IY84	NIM1_HUMAN		292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P292P(1)									GTGTACCGCCGCACGTGTCAG	0.537																																						uc003jno.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(874-876)CCG>CCA		serine/threonine-protein kinase NIM1		G		2,4404	4.2+/-10.8	0,2,2201	81.0	69.0	73.0		876	-11.5	0.0	5	dbSNP_134	73	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	NIM1	NM_153361.2		0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923		292/437	43280396	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280396G>A																												ENST00000512796.1:c.876G>A	5.37:g.43280396G>A							p.P292P	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			4	1757	+			292			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.876G>A	CCDS3943.1																																																																																				PASS	0.537	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			35	103	35	103	---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77423970	77423970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:77423970G>A	ENST00000255194.6	-	17	2027	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	AP3B1_ENST00000519295.1_Nonsense_Mutation_p.Q569*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	618					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.Q618*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GTGCCAAGCTGGAAATGATCT	0.373									Hermansky-Pudlak syndrome																													uc003kfj.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1852-1854)CAG>TAG		adaptor-related protein complex 3, beta 1							44.0	44.0	44.0					5																	77423970		2203	4300	6503	SO:0001587	stop_gained	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77423970G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1852C>T	5.37:g.77423970G>A	ENSP00000255194:p.Gln618*						p.Q618*	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	17	1977	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	618					E5RJ68|O00580|Q7Z393|Q9HD66	Nonsense_Mutation	SNP	ENST00000255194.6	37	c.1852C>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	39	7.625882	0.98396	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.4045	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	618;569;618;522	.	ENSP00000255194:Q618X	Q	-	1	0	AP3B1	77459726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.802000	0.96397	0.655000	0.94253	CAG		PASS	0.373	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			29	67	29	67	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77684689	77684689	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:77684689A>G	ENST00000538629.1	+	2	243	c.86A>G	c.(85-87)aAt>aGt	p.N29S	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	29					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTGACAAGAAATGTTCCACCA	0.279																																						uc003kfl.2																			0					0						c.(85-87)AAT>AGT		secretory carrier membrane protein 1							47.0	45.0	46.0					5																	77684689		1794	4051	5845	SO:0001583	missense	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77684689A>G	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.86A>G	5.37:g.77684689A>G	ENSP00000475496:p.Asn29Ser					SCAMP1_uc010jaa.2_RNA|SCAMP1_uc011ctc.1_Intron|SCAMP1_uc011ctd.1_RNA	p.N29S	NM_004866	NP_004857	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	2	243	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)	29			Cytoplasmic (Potential).		O43587|Q6FG23|Q96BX1|Q96QK5	Missense_Mutation	SNP	ENST00000538629.1	37	c.86A>G																																																																																					PASS	0.279	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		5	13	5	13	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79031918	79031918	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:79031918G>T	ENST00000446378.2	+	2	7361	c.7330G>T	c.(7330-7332)Gag>Tag	p.E2444*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2444					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E2444*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTTCTGAAGAGGAAACAAA	0.353																																						uc003kgc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(7330-7332)GAG>TAG		cardiomyopathy associated 5							41.0	41.0	41.0					5																	79031918		1808	4074	5882	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79031918G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7330G>T	5.37:g.79031918G>T	ENSP00000394770:p.Glu2444*						p.E2444*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7402	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2444					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.7330G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	46	12.187783	0.99644	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.85	4.96	0.65561	.	0.255793	0.27851	N	0.017599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.3379	0.32225	0.0818:0.1578:0.7603:0.0	.	.	.	.	X	2444	.	ENSP00000394770:E2444X	E	+	1	0	CMYA5	79067674	0.967000	0.33354	0.997000	0.53966	0.136000	0.21042	2.091000	0.41691	1.425000	0.47237	0.655000	0.94253	GAG		PASS	0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		22	50	22	50	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127730898	127730898	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:127730898A>T	ENST00000508053.1	-	15	2122	c.1148T>A	c.(1147-1149)aTg>aAg	p.M383K	FBN2_ENST00000262464.4_Missense_Mutation_p.M383K|FBN2_ENST00000508989.1_Missense_Mutation_p.M350K			P35556	FBN2_HUMAN	fibrillin 2	383	TB 2.				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.M383K(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)		CATTTTCGTCATTCTCCCCGG	0.542																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1147-1149)ATG>AAG		fibrillin 2 precursor							87.0	80.0	82.0					5																	127730898		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.chr5:127730898A>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1148T>A	5.37:g.127730898A>T	ENSP00000424571:p.Met383Lys					FBN2_uc003kuv.2_Missense_Mutation_p.M350K	p.M383K	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)	9	1587	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	383			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1148T>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534168	0.45073	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92858	-3.12;-3.12;-3.12	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.151648	0.42964	D	0.000621	D	0.86264	0.5891	N	0.19112	0.55	0.37435	D	0.914175	B;B	0.19817	0.039;0.039	B;B	0.26310	0.068;0.068	D	0.84595	0.0669	10	0.37606	T	0.19	.	14.7624	0.69614	1.0:0.0:0.0:0.0	.	350;383	D6RJI3;P35556	.;FBN2_HUMAN	K	383;383;350	ENSP00000262464:M383K;ENSP00000424571:M383K;ENSP00000425596:M350K	ENSP00000262464:M383K	M	-	2	0	FBN2	127758797	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.441000	0.52893	2.220000	0.72140	0.533000	0.62120	ATG		PASS	0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	46	9	46	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127744403	127744403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:127744403C>A	ENST00000508053.1	-	14	2016	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.G348*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.G315*			P35556	FBN2_HUMAN	fibrillin 2	348	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G348*(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)		GTTACATATCCACGTGGACAA	0.443																																						uc003kuu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1042-1044)GGA>TGA		fibrillin 2 precursor							145.0	125.0	132.0					5																	127744403		2203	4300	6503	SO:0001587	stop_gained	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.chr5:127744403C>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.1042G>T	5.37:g.127744403C>A	ENSP00000424571:p.Gly348*					FBN2_uc003kuv.2_Nonsense_Mutation_p.G315*	p.G348*	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)	8	1481	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	348			EGF-like 5; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.1042G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	42	9.199242	0.99098	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5162	0.90936	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;315	.	ENSP00000262464:G348X	G	-	1	0	FBN2	127772302	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.009000	0.76347	2.647000	0.89833	0.555000	0.69702	GGA		PASS	0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		49	85	49	85	---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131939024	131939024	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:131939024T>A	ENST00000265335.6	+	14	2627	c.2240T>A	c.(2239-2241)aTa>aAa	p.I747K	RAD50_ENST00000378823.3_Missense_Mutation_p.I608K			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	747					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.I608K(1)|p.I747K(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGAAGGAAATACCAGAATTA	0.333								Homologous recombination																														uc003kxi.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(2239-2241)ATA>AAA	Homologous_recombination	RAD50 homolog isoform 1							82.0	76.0	78.0					5																	131939024		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131939024T>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2240T>A	5.37:g.131939024T>A	ENSP00000265335:p.Ile747Lys					RAD50_uc003kxh.2_Missense_Mutation_p.I608K	p.I747K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2627	+		all_cancers(142;0.0368)|Breast(839;0.198)	747					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.2240T>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533443	0.85812	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.07688	3.17;3.41	5.16	5.16	0.70880	.	0.055806	0.64402	D	0.000001	T	0.17195	0.0413	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.01748	-1.1282	10	0.87932	D	0	-21.2707	15.3008	0.73949	0.0:0.0:0.0:1.0	.	747	Q92878	RAD50_HUMAN	K	608;747	ENSP00000368100:I608K;ENSP00000265335:I747K	ENSP00000265335:I747K	I	+	2	0	RAD50	131966923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.077000	0.62373	0.533000	0.62120	ATA		PASS	0.333	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		13	47	13	47	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032730	140032730	+	Splice_Site	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:140032730G>A	ENST00000417647.2	+	5	543		c.e5+1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.?(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGAGGCGTGAGTACTGA	0.502																																						uc003lgq.2																			1	Unknown(1)		lung(1)	large_intestine(1)	1						c.e5+1		RED protein							80.0	79.0	79.0					5																	140032730		1953	4147	6100	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032730G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.404+1G>A	5.37:g.140032730G>A						IK_uc011czk.1_Splice_Site_p.A135_splice	p.A135_splice	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	514	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)						Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	c.404_splice	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876737	0.91664	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9686	0.97276	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140012914	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.820000	0.97059	0.650000	0.86243	.		PASS	0.502	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Intron	30	64	30	64	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207985	140207985	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:140207985C>A	ENST00000529310.1	+	1	423	c.309C>A	c.(307-309)agC>agA	p.S103R	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S103R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S103R(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.587																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(307-309)AGC>AGA		protocadherin alpha 6 isoform 1 precursor							112.0	124.0	120.0					5																	140207985		2203	4296	6499	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207985C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.309C>A	5.37:g.140207985C>A	ENSP00000433378:p.Ser103Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S103R|PCDHA6_uc011dab.1_Missense_Mutation_p.S103R	p.S103R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+			103			Cadherin 1.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.309C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070069	0.07228	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.27557	1.66;1.66	3.87	3.0	0.34707	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.348037	0.20230	U	0.096501	T	0.29882	0.0747	M	0.88377	2.95	0.09310	N	1	P;P;P	0.45986	0.556;0.87;0.5	B;B;B	0.34093	0.097;0.175;0.149	T	0.32981	-0.9886	10	0.24483	T	0.36	.	5.9518	0.19250	0.0:0.6666:0.157:0.1764	.	103;103;103	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	103	ENSP00000433378:S103R;ENSP00000434113:S103R	ENSP00000434113:S103R	S	+	3	2	PCDHA6	140188169	0.000000	0.05858	0.999000	0.59377	0.681000	0.39784	-0.923000	0.04000	0.960000	0.38005	0.313000	0.20887	AGC		PASS	0.587	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		48	252	48	252	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140248877	140248877	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:140248877G>A	ENST00000398640.2	+	1	189	c.189G>A	c.(187-189)ctG>ctA	p.L63L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L63L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCGCCTGTTCCGGGTGG	0.612																																						uc003lia.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(187-189)CTG>CTA		protocadherin alpha 11 isoform 1 precursor							78.0	90.0	86.0					5																	140248877		2202	4300	6502	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140248877G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.189G>A	5.37:g.140248877G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L63L	p.L63L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1047	+			63			Extracellular (Potential).|Cadherin 1.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.189G>A	CCDS47284.1																																																																																				PASS	0.612	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		89	120	89	120	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595315	140595315	+	Silent	SNP	G	G	T	rs563472510	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:140595315G>T	ENST00000341948.4	+	1	1807	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540A(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.697													G|||	2	0.000399361	0.0	0.0	5008	,	,		16244	0.001		0.0	False		,,,				2504	0.001					uc003lja.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)	3						c.(1618-1620)GCG>GCT		protocadherin beta 13 precursor							43.0	50.0	47.0					5																	140595315		2203	4299	6502	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595315G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1620G>T	5.37:g.140595315G>T							p.A540A	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1807	+			540			Extracellular (Potential).|Cadherin 5.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1620G>T	CCDS4255.1																																																																																				PASS	0.697	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		24	44	24	44	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140768582	140768582	+	Silent	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:140768582T>C	ENST00000519479.1	+	1	1131	c.1131T>C	c.(1129-1131)aaT>aaC	p.N377N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N377N(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACACAATGGAGAAGTGA	0.408																																						uc003lkc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1129-1131)AAT>AAC		protocadherin gamma subfamily B, 4 isoform 1							116.0	113.0	114.0					5																	140768582		1899	4125	6024	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768582T>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1131T>C	5.37:g.140768582T>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.N377N	p.N377N	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1131	+			377			Cadherin 4.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1131T>C	CCDS54928.1																																																																																				PASS	0.408	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		31	126	31	126	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141059334	141059334	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:141059334C>T	ENST00000239440.4	-	3	645	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	ARAP3_ENST00000508305.1_Missense_Mutation_p.G116S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	194					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G194S(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTACCTGTGCCTGTTGTGGGC	0.582																																						uc003llm.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(580-582)GGC>AGC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							68.0	69.0	69.0					5																	141059334		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059334C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.580G>A	5.37:g.141059334C>T	ENSP00000239440:p.Gly194Ser					ARAP3_uc003lln.2_Missense_Mutation_p.G116S|ARAP3_uc003llo.1_Missense_Mutation_p.G194S	p.G194S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			3	658	-			194					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.580G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332080	0.60853	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.18174	2.51;3.27;2.23	4.89	4.89	0.63831	.	0.078438	0.51477	D	0.000088	T	0.27241	0.0668	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.87578	0.938;0.998	T	0.01819	-1.1267	10	0.51188	T	0.08	.	13.4053	0.60908	0.0:1.0:0.0:0.0	.	116;194	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	S	116;116;194;194	ENSP00000421826:G116S;ENSP00000239440:G194S;ENSP00000421148:G194S	ENSP00000239440:G194S	G	-	1	0	ARAP3	141039518	0.995000	0.38212	0.953000	0.39169	0.156000	0.22039	4.297000	0.59061	2.536000	0.85505	0.462000	0.41574	GGC		PASS	0.582	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		55	89	55	89	---	---	---	---
SLC36A3	285641	broad.mit.edu	37	5	150663691	150663691	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:150663691G>C	ENST00000335230.3	-	8	1299	c.888C>G	c.(886-888)atC>atG	p.I296M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.I337M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	296						integral component of membrane (GO:0016021)		p.I296M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATATAGAGGATGATGACAA	0.473																																						uc003ltw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(886-888)ATC>ATG		solute carrier family 36, member 3 isoform 2							182.0	172.0	175.0					5																	150663691		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150663691G>C	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.888C>G	5.37:g.150663691G>C	ENSP00000334750:p.Ile296Met					GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.I281M|SLC36A3_uc003ltx.2_Missense_Mutation_p.I337M	p.I296M	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1307	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	296			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.888C>G	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894561	0.52121	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02682	4.2;4.2	4.34	2.55	0.30701	.	0.967858	0.08592	N	0.922814	T	0.08626	0.0214	L	0.52905	1.665	0.29678	N	0.841948	P;P;P	0.43519	0.809;0.592;0.794	P;P;P	0.55615	0.642;0.653;0.78	T	0.19095	-1.0316	10	0.51188	T	0.08	.	7.6192	0.28175	0.161:0.1397:0.6993:0.0	.	337;296;281	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	M	296;337	ENSP00000334750:I296M;ENSP00000366942:I337M	ENSP00000334750:I296M	I	-	3	3	SLC36A3	150643884	1.000000	0.71417	0.959000	0.39883	0.983000	0.72400	2.551000	0.45820	1.195000	0.43115	0.650000	0.86243	ATC		PASS	0.473	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		92	143	92	143	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156755026	156755026	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:156755026A>G	ENST00000521420.1	+	18	2138	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	CYFIP2_ENST00000541131.1_Missense_Mutation_p.I634V|CYFIP2_ENST00000347377.6_Missense_Mutation_p.I709V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.I709V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.I513V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.I734V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.I408V					cytoplasmic FMR1 interacting protein 2									p.I734V(2)|p.I709V(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAGACCAGATCTTTGCTTA	0.473																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2125-2127)ATC>GTC		cytoplasmic FMR1 interacting protein 2							78.0	77.0	77.0					5																	156755026		1929	4138	6067	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156755026A>G	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2047A>G	5.37:g.156755026A>G	ENSP00000430904:p.Ile683Val					CYFIP2_uc011ddn.1_Missense_Mutation_p.I683V|CYFIP2_uc011ddo.1_Missense_Mutation_p.I513V|CYFIP2_uc003lwr.2_Missense_Mutation_p.I709V|CYFIP2_uc003lws.2_Missense_Mutation_p.I709V|CYFIP2_uc003lwt.2_Missense_Mutation_p.I612V|CYFIP2_uc011ddp.1_Missense_Mutation_p.I443V	p.I709V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2263	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	734						Missense_Mutation	SNP	ENST00000521420.1	37	c.2125A>G		.	.	.	.	.	.	.	.	.	.	A	16.00	2.998633	0.54147	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.28608	0.87	0.80722	D	1	B;P;B;P;B;B	0.48089	0.391;0.581;0.272;0.905;0.234;0.126	B;B;B;B;B;B	0.43331	0.255;0.315;0.203;0.416;0.163;0.391	T	0.03034	-1.1080	10	0.21014	T	0.42	-35.4767	16.0204	0.80478	1.0:0.0:0.0:0.0	.	573;513;683;709;709;734	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	V	734;513;683;709;709;634;408	ENSP00000325817:I734V;ENSP00000428009:I513V;ENSP00000430904:I683V;ENSP00000313567:I709V;ENSP00000366799:I709V;ENSP00000444645:I634V;ENSP00000403793:I408V	ENSP00000325817:I734V	I	+	1	0	CYFIP2	156687604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.467000	0.80930	2.174000	0.68829	0.533000	0.62120	ATC		PASS	0.473	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		25	65	25	65	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156920133	156920134	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:156920133_156920134CC>AA	ENST00000517905.1	-	16	1799_1800	c.1755_1756GG>TT	c.(1753-1758)ctGGag>ctTTag	p.E586*	ADAM19_ENST00000394020.1_Nonsense_Mutation_p.E588*|ADAM19_ENST00000430702.2_Nonsense_Mutation_p.E319*|ADAM19_ENST00000257527.4_Nonsense_Mutation_p.E586*			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	586	Cys-rich.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E587*(2)|p.E586*(2)|p.L586L(1)|p.L585L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGTTGGACTCCAGGGGCCGGG	0.599																																						uc003lwz.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1756-1758)GAG>TAG|c.(1753-1755)CTG>CTT		ADAM metallopeptidase domain 19 preproprotein																																				SO:0001587	stop_gained	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156920133C>A|g.chr5:156920134C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1755_1756delinsAA	5.37:g.156920133_156920134delinsAA	ENSP00000428654:p.Glu586*					ADAM19_uc003lww.1_Nonsense_Mutation_p.E319*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.E185*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.E517*|ADAM19_uc003lww.1_Silent_p.L318L|ADAM19_uc003lwy.2_Silent_p.L184L|ADAM19_uc011ddr.1_Silent_p.L516L	p.E586*|p.L585L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		16	1820|1819	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	586|585			Extracellular (Potential).|Cys-rich.		Q9BZL5|Q9UHP2	Nonsense_Mutation|Silent	SNP	ENST00000517905.1	37	c.1756G>T|c.1755G>T																																																																																					PASS	0.599	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		37|39	94|92	37	92	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161117260	161117260	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:161117260T>A	ENST00000274545.5	+	7	1160	c.727T>A	c.(727-729)Ttc>Atc	p.F243I	GABRA6_ENST00000523217.1_Missense_Mutation_p.F233I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	243					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F243I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGGGCTACTTCATGATACA	0.403										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(727-729)TTC>ATC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						170.0	151.0	157.0					5																	161117260		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161117260T>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.727T>A	5.37:g.161117260T>A	ENSP00000274545:p.Phe243Ile	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.F14I	p.F243I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1065	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	243			Helical; (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.727T>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	32	5.132241	0.94473	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691	D;D;D	0.86097	-2.07;-2.07;-2.07	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.047153	0.85682	D	0.000000	D	0.91815	0.7410	M	0.87758	2.905	0.58432	D	0.999999	D	0.56287	0.975	P	0.57468	0.821	D	0.93309	0.6683	10	0.87932	D	0	.	15.2733	0.73723	0.0:0.0:0.0:1.0	.	243	Q16445	GBRA6_HUMAN	I	243;233;163	ENSP00000274545:F243I;ENSP00000430527:F233I;ENSP00000427989:F163I	ENSP00000274545:F243I	F	+	1	0	GABRA6	161049838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.946000	0.87746	2.016000	0.59253	0.533000	0.62120	TTC		PASS	0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			38	171	38	171	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419787	177419787	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr5:177419787G>T	ENST00000308304.2	-	3	912	c.604C>A	c.(604-606)Cct>Act	p.P202T		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	202					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P202T(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGGCCGGCAGGGGCTGGGTGC	0.627																																						uc003mif.1																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CCT>ACT		PROP paired-like homeobox 1							44.0	43.0	43.0					5																	177419787		2203	4297	6500	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419787G>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.604C>A	5.37:g.177419787G>T	ENSP00000311290:p.Pro202Thr						p.P202T	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	913	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	202						Missense_Mutation	SNP	ENST00000308304.2	37	c.604C>A	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	6.328	0.428582	0.11987	.	.	ENSG00000175325	ENST00000308304	D	0.90261	-2.64	2.22	1.3	0.21679	.	0.465067	0.16121	N	0.228638	T	0.80396	0.4615	L	0.32530	0.975	0.09310	N	1	P	0.43750	0.816	B	0.34180	0.177	T	0.70335	-0.4900	10	0.36615	T	0.2	-6.2656	6.6742	0.23085	0.0:0.2983:0.7017:0.0	.	202	O75360	PROP1_HUMAN	T	202	ENSP00000311290:P202T	ENSP00000311290:P202T	P	-	1	0	PROP1	177352393	0.145000	0.22656	0.004000	0.12327	0.010000	0.07245	0.242000	0.18087	0.479000	0.27511	0.563000	0.77884	CCT		PASS	0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		6	12	6	12	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17669736	17669736	+	Silent	SNP	T	T	A	rs376395961		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:17669736T>A	ENST00000262077.2	-	6	893	c.894A>T	c.(892-894)gcA>gcT	p.A298A	NUP153_ENST00000537253.1_Silent_p.A298A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	298					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.A298A(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CGTAAGATTGTGCACTGAGTT	0.368																																						uc003ncd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(892-894)GCA>GCT		nucleoporin 153kDa							86.0	85.0	85.0					6																	17669736		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669736T>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.894A>T	6.37:g.17669736T>A						NUP153_uc011dje.1_Silent_p.A298A|NUP153_uc010jpl.1_Silent_p.A298A	p.A298A	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		6	1094	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	298					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.894A>T	CCDS4541.1																																																																																				PASS	0.368	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			27	120	27	120	---	---	---	---
ZKSCAN4	387032	broad.mit.edu	37	6	28213601	28213601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:28213601G>A	ENST00000377294.2	-	5	1174	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZKSCAN4_ENST00000423974.2_Nonsense_Mutation_p.Q156*	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	311	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.Q311*(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCATTTTTCTGCTTTCTTTGT	0.468																																						uc003nks.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(931-933)CAG>TAG		zinc finger with KRAB and SCAN domains 4							106.0	91.0	96.0					6																	28213601		2203	4300	6503	SO:0001587	stop_gained	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213601G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.931C>T	6.37:g.28213601G>A	ENSP00000366509:p.Gln311*					ZKSCAN4_uc011dlb.1_Nonsense_Mutation_p.Q156*	p.Q311*	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			5	1175	-			311			KRAB.		B2RE32|Q5U7L4	Nonsense_Mutation	SNP	ENST00000377294.2	37	c.931C>T	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853287	0.71719	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	.	.	.	4.95	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	8.7448	0.34580	0.0858:0.0:0.7605:0.1537	.	.	.	.	X	311;156;17;187	.	ENSP00000349249:Q187X	Q	-	1	0	ZKSCAN4	28321580	0.858000	0.29795	0.998000	0.56505	0.902000	0.53008	2.822000	0.48073	2.447000	0.82792	0.655000	0.94253	CAG		PASS	0.468	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		22	139	22	139	---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155870	32155870	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:32155870C>A	ENST00000375050.4	-	4	877	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	203					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V203L(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TTGGGGGCCACGGGCCTGGTG	0.592																																						uc003oav.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)GTG>TTG		pre-B-cell leukemia homeobox 2							25.0	22.0	23.0					6																	32155870		2203	4294	6497	SO:0001583	missense	5089						transcription factor binding	g.chr6:32155870C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.607G>T	6.37:g.32155870C>A	ENSP00000364190:p.Val203Leu					PBX2_uc003oaw.2_Missense_Mutation_p.V203L	p.V203L	NM_002586	NP_002577	P40425	PBX2_HUMAN			4	878	-			203					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.607G>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912961	0.52439	.	.	ENSG00000204304	ENST00000375050	T	0.33865	1.39	5.39	5.39	0.77823	PBX (1);	0.098035	0.45606	D	0.000354	T	0.29882	0.0747	L	0.52573	1.65	0.42017	D	0.990961	B;B	0.32918	0.054;0.39	B;P	0.46389	0.107;0.515	T	0.13361	-1.0512	10	0.32370	T	0.25	2.8447	10.1475	0.42774	0.0:0.9094:0.0:0.0906	.	203;203	Q7KZE5;P40425	.;PBX2_HUMAN	L	203	ENSP00000364190:V203L	ENSP00000364190:V203L	V	-	1	0	PBX2	32263848	0.958000	0.32768	0.963000	0.40424	0.878000	0.50629	1.870000	0.39529	2.532000	0.85374	0.555000	0.69702	GTG		PASS	0.592	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	16	3	16	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70990709	70990709	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:70990709G>T	ENST00000357250.6	-	9	1068	c.910C>A	c.(910-912)Ccg>Acg	p.P304T	COL9A1_ENST00000370496.3_Missense_Mutation_p.P304T|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000320755.7_Missense_Mutation_p.P61T|COL9A1_ENST00000370499.4_Missense_Mutation_p.P61T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	304	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.P304T(1)|p.P61T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAACTTACCGGGGGGCCCGGG	0.562																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(910-912)CCG>ACG		alpha 1 type IX collagen isoform 1 precursor							22.0	25.0	24.0					6																	70990709		2116	4251	6367	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70990709G>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.910C>A	6.37:g.70990709G>T	ENSP00000349790:p.Pro304Thr					COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Missense_Mutation_p.P61T	p.P304T	NM_001851	NP_001842	P20849	CO9A1_HUMAN			9	1069	-			304			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.910C>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	1.437	-0.568735	0.03910	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	T;D;D;D	0.94330	2.75;-3.37;-3.37;-3.4	5.47	3.62	0.41486	.	0.248449	0.48286	D	0.000189	D	0.90414	0.6999	M	0.80028	2.48	0.53688	D	0.999974	B;B	0.25609	0.049;0.13	B;B	0.30401	0.115;0.112	D	0.86912	0.2061	10	0.44086	T	0.13	.	14.8335	0.70166	0.0:0.2738:0.7262:0.0	.	304;61	P20849;P20849-2	CO9A1_HUMAN;.	T	304;61;61;304	ENSP00000349790:P304T;ENSP00000315252:P61T;ENSP00000359530:P61T;ENSP00000359527:P304T	ENSP00000315252:P61T	P	-	1	0	COL9A1	71047430	1.000000	0.71417	0.536000	0.28039	0.004000	0.04260	4.725000	0.61979	0.628000	0.30357	0.467000	0.42956	CCG		PASS	0.562	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			44	99	44	99	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75797406	75797406	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:75797406G>A	ENST00000322507.8	-	65	9377	c.9068C>T	c.(9067-9069)cCt>cTt	p.P3023L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2947L|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1859L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P3019L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3023	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P3023L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGGGGGCCAGGGGGACCTCT	0.537																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(9067-9069)CCT>CTT		collagen, type XII, alpha 1 long isoform							73.0	81.0	78.0					6																	75797406		1876	4092	5968	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75797406G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9068C>T	6.37:g.75797406G>A	ENSP00000325146:p.Pro3023Leu					COL12A1_uc003pht.2_Missense_Mutation_p.P1859L	p.P3023L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			65	9234	-			3023			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.9068C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262883	0.80358	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93659	-2.74;-3.26;-2.72;-2.71;-2.71	5.75	5.75	0.90469	.	0.055725	0.64402	D	0.000001	D	0.95648	0.8585	M	0.73319	2.225	0.58432	D	0.999999	D;P	0.63046	0.992;0.842	P;B	0.59948	0.866;0.395	D	0.95434	0.8519	10	0.72032	D	0.01	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	1859;3023	Q99715-2;Q99715	.;COCA1_HUMAN	L	3023;661;2947;1859;2947;3019	ENSP00000325146:P3023L;ENSP00000399812:P661L;ENSP00000305147:P1859L;ENSP00000412864:P2947L;ENSP00000421216:P3019L	ENSP00000325146:P3023L	P	-	2	0	COL12A1	75854126	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	6.993000	0.76245	2.719000	0.93026	0.655000	0.94253	CCT		PASS	0.537	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		23	127	23	127	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79725400	79725400	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:79725400T>C	ENST00000275034.4	-	14	1503	c.1336A>G	c.(1336-1338)Atg>Gtg	p.M446V		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	446					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.M446V(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)		TTCAGAGTCATGTTATTAACT	0.328																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1336-1338)ATG>GTG		pleckstrin homology domain interacting protein							162.0	148.0	152.0					6																	79725400		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.chr6:79725400T>C	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.1336A>G	6.37:g.79725400T>C	ENSP00000275034:p.Met446Val					PHIP_uc011dyp.1_Missense_Mutation_p.M446V	p.M446V	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	14	1562	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	446			WD 6.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1336A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.462658	0.26248	.	.	ENSG00000146247	ENST00000275034	T	0.18016	2.24	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.057159	0.64402	D	0.000001	T	0.04407	0.0121	N	0.22421	0.69	0.45962	D	0.998789	B;B	0.23442	0.085;0.085	B;B	0.20184	0.028;0.028	T	0.31280	-0.9949	9	.	.	.	-13.7509	10.0321	0.42107	0.1503:0.0:0.0:0.8496	.	446;446	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	446	ENSP00000275034:M446V	.	M	-	1	0	PHIP	79782119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	2.138000	0.66242	0.482000	0.46254	ATG		PASS	0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			30	128	30	128	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132873902	132873902	+	Missense_Mutation	SNP	C	C	G	rs368553646	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:132873902C>G	ENST00000275200.1	+	1	71	c.71C>G	c.(70-72)aCt>aGt	p.T24S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.T24S(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGTATTGAAACTCCCTATTCT	0.428													C|||	5	0.000998403	0.0	0.0	5008	,	,		16459	0.004		0.0	False		,,,				2504	0.001					uc011ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)ACT>AGT		trace amine associated receptor 8							169.0	153.0	158.0					6																	132873902		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873902C>G	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.71C>G	6.37:g.132873902C>G	ENSP00000275200:p.Thr24Ser						p.T24S	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	71	+	Breast(56;0.112)		24			Extracellular (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.71C>G	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	5.645	0.303646	0.10678	.	.	ENSG00000146385	ENST00000275200	T	0.36340	1.26	4.61	2.83	0.33086	.	0.734179	0.11262	N	0.582452	T	0.07908	0.0198	L	0.31120	0.905	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34104	-0.9842	10	0.21014	T	0.42	-3.7586	3.4952	0.07653	0.1292:0.5677:0.1414:0.1616	.	24	Q969N4	TAAR8_HUMAN	S	24	ENSP00000275200:T24S	ENSP00000275200:T24S	T	+	2	0	TAAR8	132915595	0.000000	0.05858	0.011000	0.14972	0.022000	0.10575	-0.263000	0.08670	0.668000	0.31126	-0.140000	0.14226	ACT		PASS	0.428	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		38	214	38	214	---	---	---	---
RPS12	6206	broad.mit.edu	37	6	133136222	133136222	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:133136222A>C	ENST00000230050.3	+	3	336	c.126A>C	c.(124-126)ttA>ttC	p.L42F	SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORA33_ENST00000363664.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L42F(1)		endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CCAAAGCCTTAGACAAGTACG	0.488																																						uc003qdx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)TTA>TTC		ribosomal protein S12							149.0	147.0	148.0					6																	133136222		2203	4300	6503	SO:0001583	missense	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133136222A>C	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.126A>C	6.37:g.133136222A>C	ENSP00000230050:p.Leu42Phe					RPS12_uc003qdy.1_5'Flank	p.L42F	NM_001016	NP_001007	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	3	208	+	Breast(56;0.214)		42					Q76M58	Missense_Mutation	SNP	ENST00000230050.3	37	c.126A>C	CCDS5164.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209722	0.79240	.	.	ENSG00000112306	ENST00000230050	T	0.67698	-0.28	6.03	4.9	0.64082	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.90425	3.115	0.80722	D	1	P	0.40250	0.709	P	0.55345	0.774	T	0.79588	-0.1741	10	0.62326	D	0.03	-7.5796	3.707	0.08404	0.6725:0.0:0.1312:0.1963	.	42	P25398	RS12_HUMAN	F	42	ENSP00000230050:L42F	ENSP00000230050:L42F	L	+	3	2	RPS12	133177915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.337000	0.43947	2.308000	0.77769	0.533000	0.62120	TTA		PASS	0.488	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		41	80	41	80	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138655303	138655303	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:138655303C>T	ENST00000251691.4	+	33	5486	c.5320C>T	c.(5320-5322)Ctg>Ttg	p.L1774L		NM_020340.4	NP_065073.3			KIAA1244									p.L1703L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATTCGACCTGCTGCTGGACTC	0.552																																						uc003qhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(5320-5322)CTG>TTG		brefeldin A-inhibited guanine							35.0	38.0	37.0					6																	138655303		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655303C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5320C>T	6.37:g.138655303C>T							p.L1774L	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5320	+	Breast(32;0.135)		1774						Silent	SNP	ENST00000251691.4	37	c.5320C>T	CCDS5189.2																																																																																				PASS	0.552	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	35	6	35	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143093952	143093952	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:143093952G>A	ENST00000367604.1	-	4	2563	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R642W|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R642W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	642					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.R642W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGGGTTTCCGACAGACATCA	0.453																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1924-1926)CGG>TGG		human immunodeficiency virus type I enhancer							156.0	150.0	152.0					6																	143093952		1939	4137	6076	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093952G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1924C>T	6.37:g.143093952G>A	ENSP00000356576:p.Arg642Trp						p.R642W	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2667	-			642					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1924C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420869	0.62622	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.11385	2.78;2.78;2.78	5.48	4.61	0.57282	.	0.203292	0.35179	N	0.003390	T	0.05868	0.0153	M	0.72894	2.215	0.30325	N	0.787208	B	0.09022	0.002	B	0.04013	0.001	T	0.14448	-1.0472	10	0.72032	D	0.01	-12.4442	9.1537	0.36978	0.0827:0.2628:0.6545:0.0	.	642	P31629	ZEP2_HUMAN	W	642	ENSP00000356576:R642W;ENSP00000356575:R642W;ENSP00000012134:R642W	ENSP00000012134:R642W	R	-	1	2	HIVEP2	143135645	1.000000	0.71417	0.956000	0.39512	0.946000	0.59487	4.251000	0.58778	1.315000	0.45114	0.655000	0.94253	CGG		PASS	0.453	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			42	182	42	182	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146480634	146480634	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:146480634C>A	ENST00000282753.1	+	2	1086	c.851C>A	c.(850-852)gCt>gAt	p.A284D	GRM1_ENST00000492807.2_Missense_Mutation_p.A284D|GRM1_ENST00000355289.4_Missense_Mutation_p.A284D|GRM1_ENST00000392299.2_Missense_Mutation_p.A284D|GRM1_ENST00000361719.2_Missense_Mutation_p.A284D|GRM1_ENST00000507907.1_Missense_Mutation_p.A284D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	284					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A284D(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTTCCCAAGGCTAGAGTGGTG	0.572																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(850-852)GCT>GAT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						85.0	78.0	80.0					6																	146480634		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480634C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.851C>A	6.37:g.146480634C>A	ENSP00000282753:p.Ala284Asp					GRM1_uc010khu.1_Missense_Mutation_p.A284D|GRM1_uc010khv.1_Missense_Mutation_p.A284D|GRM1_uc003qll.2_Missense_Mutation_p.A284D|GRM1_uc011edz.1_Missense_Mutation_p.A284D|GRM1_uc011eea.1_Missense_Mutation_p.A284D	p.A284D	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1321	+		Ovarian(120;0.0387)	284			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.851C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397017	0.96009	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.997;0.992	D	0.96472	0.9349	10	0.87932	D	0	.	18.9966	0.92815	0.0:1.0:0.0:0.0	.	284;284;279;284	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	D	284	ENSP00000354896:A284D;ENSP00000376119:A284D;ENSP00000424095:A284D;ENSP00000282753:A284D;ENSP00000347437:A284D;ENSP00000425599:A284D	ENSP00000282753:A284D	A	+	2	0	GRM1	146522327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.495000	0.84180	0.655000	0.94253	GCT		PASS	0.572	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		22	39	22	39	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152676045	152676045	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr6:152676045C>A	ENST00000367255.5	-	67	11276	c.10675G>T	c.(10675-10677)Gtg>Ttg	p.V3559L	SYNE1_ENST00000423061.1_Missense_Mutation_p.V3566L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3566L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3559L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3530L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3559					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V3559L(2)|p.V3566L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGGGATCACATCCTCTCTG	0.557										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10675-10677)GTG>TTG		spectrin repeat containing, nuclear envelope 1							137.0	139.0	139.0					6																	152676045		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676045C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10675G>T	6.37:g.152676045C>A	ENSP00000356224:p.Val3559Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V3566L|SYNE1_uc003qou.3_Missense_Mutation_p.V3559L|SYNE1_uc010kja.1_Missense_Mutation_p.V264L	p.V3559L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11277	-		Ovarian(120;0.0955)	3559			HAT 7.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10675G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160294	0.57368	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.28895	1.59;2.13;1.59;2.13;1.59	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000077	T	0.14313	0.0346	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.35982	0.531;0.531;0.531;0.472	B;B;B;B	0.35073	0.079;0.079;0.079;0.195	T	0.04551	-1.0943	10	0.02654	T	1	.	17.3054	0.87192	0.0:1.0:0.0:0.0	.	3559;3559;3559;3566	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	3559;3566;3559;3566;3530	ENSP00000356224:V3559L;ENSP00000396024:V3566L;ENSP00000265368:V3559L;ENSP00000390975:V3566L;ENSP00000341887:V3530L	ENSP00000265368:V3559L	V	-	1	0	SYNE1	152717738	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	7.445000	0.80570	2.588000	0.87417	0.555000	0.69702	GTG		PASS	0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		36	241	36	241	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612969	7612969	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:7612969G>T	ENST00000340080.4	+	4	1284	c.863G>T	c.(862-864)aGg>aTg	p.R288M	MIOS_ENST00000405785.1_Missense_Mutation_p.R288M	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	288						lysosomal membrane (GO:0005765)		p.R288M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTTAACAAGGGATAGTAAT	0.398																																						uc003srf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)AGG>ATG		missing oocyte, meiosis regulator, homolog							93.0	88.0	89.0					7																	7612969		1891	4099	5990	SO:0001583	missense	54468							g.chr7:7612969G>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.863G>T	7.37:g.7612969G>T	ENSP00000339881:p.Arg288Met					MIOS_uc010ktp.1_Missense_Mutation_p.R288M	p.R288M	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	1171	+			288			WD 5.		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.863G>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774371	0.70107	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.66638	-0.22;-0.22	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.116822	0.64402	D	0.000006	T	0.79770	0.4503	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.79443	-0.1801	10	0.59425	D	0.04	-17.5773	19.9793	0.97320	0.0:0.0:1.0:0.0	.	288	Q9NXC5	MIO_HUMAN	M	288	ENSP00000339881:R288M;ENSP00000384088:R288M	ENSP00000339881:R288M	R	+	2	0	MIOS	7579494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.406000	0.97321	2.793000	0.96121	0.650000	0.86243	AGG		PASS	0.398	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		75	183	75	183	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21598522	21598522	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:21598522T>C	ENST00000409508.3	+	3	629	c.598T>C	c.(598-600)Tat>Cat	p.Y200H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y200H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	200	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.Y200H(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						AAAGAAGATGTATATTTTTAG	0.363									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(598-600)TAT>CAT		dynein, axonemal, heavy chain 11							54.0	51.0	52.0					7																	21598522		1833	4083	5916	SO:0001583	missense	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.chr7:21598522T>C	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.598T>C	7.37:g.21598522T>C	ENSP00000475939:p.Tyr200His						p.Y200H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			3	629	+			200			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.598T>C		.	.	.	.	.	.	.	.	.	.	T	7.907	0.735707	0.15574	.	.	ENSG00000105877	ENST00000328843	T	0.22336	1.96	6.02	3.11	0.35812	.	0.426594	0.24891	N	0.034773	T	0.07052	0.0179	N	0.02158	-0.66	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	10	0.15066	T	0.55	.	9.079	0.36540	0.0:0.6725:0.0:0.3275	.	200	Q96DT5	DYH11_HUMAN	H	200	ENSP00000330671:Y200H	ENSP00000330671:Y200H	Y	+	1	0	DNAH11	21565047	0.995000	0.38212	0.997000	0.53966	0.973000	0.67179	0.325000	0.19628	0.794000	0.33899	-0.248000	0.11899	TAT		PASS	0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	23	15	23	---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26729970	26729970	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:26729970C>A	ENST00000345317.2	-	10	1121	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.D98Y	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	270					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.D270Y(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGCACTGTCCTCTTCTTCT	0.383																																						uc003syc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(808-810)GAC>TAC		src kinase associated phosphoprotein 2							243.0	186.0	205.0					7																	26729970		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26729970C>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.808G>T	7.37:g.26729970C>A	ENSP00000005587:p.Asp270Tyr					SKAP2_uc011jzi.1_Missense_Mutation_p.D98Y|SKAP2_uc011jzj.1_Missense_Mutation_p.D255Y	p.D270Y	NM_003930	NP_003921	O75563	SKAP2_HUMAN			10	1101	-			270					A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.808G>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	C	2.649	-0.282319	0.05642	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.33654	1.89;1.4	6.17	4.39	0.52855	Src homology-3 domain (1);	0.832343	0.11350	N	0.573031	T	0.24812	0.0602	N	0.24115	0.695	0.23150	N	0.998218	B;P	0.34837	0.412;0.472	B;B	0.31614	0.133;0.073	T	0.15578	-1.0432	10	0.72032	D	0.01	-17.5401	8.5355	0.33360	0.0:0.7679:0.0:0.2321	.	255;270	B7Z5N4;O75563	.;SKAP2_HUMAN	Y	270;98;255	ENSP00000005587:D270Y;ENSP00000443593:D98Y	ENSP00000005587:D270Y	D	-	1	0	SKAP2	26696495	0.619000	0.27059	0.908000	0.35775	0.073000	0.16967	1.313000	0.33585	0.950000	0.37743	0.655000	0.94253	GAC		PASS	0.383	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			49	151	49	151	---	---	---	---
AC005013.5	0	broad.mit.edu	37	7	28997605	28997605	+	lincRNA	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:28997605G>T	ENST00000436594.1	+	0	192				TRIL_ENST00000322982.3_RNA																							GGCAGCGGCGGGAGCGCGAGG	0.731																																						uc003szt.2																			0					0						c.(58-60)CCG>ACG		TLR4 interactor with leucine rich repeats							11.0	12.0	12.0					7																	28997605		1920	4093	6013			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997605G>T																													7.37:g.28997605G>T						uc003szu.1_5'Flank	p.P20T	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			1	425	-			20						Missense_Mutation	SNP	ENST00000436594.1	37	c.58C>A																																																																																					PASS	0.731	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			14	16	14	16	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31815290	31815290	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:31815290G>T	ENST00000396191.1	-	17	2403	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I	PDE1C_ENST00000321453.7_Missense_Mutation_p.L650I|PDE1C_ENST00000396193.1_Missense_Mutation_p.L710I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	650					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.L710I(1)|p.L650I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GGCAACGTAAGGCGACACGTG	0.488																																						uc003tcm.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(1948-1950)CTT>ATT		phosphodiesterase 1C							68.0	59.0	62.0					7																	31815290		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31815290G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1948C>A	7.37:g.31815290G>T	ENSP00000379494:p.Leu650Ile					PDE1C_uc003tcn.1_Missense_Mutation_p.L650I|PDE1C_uc003tco.1_Missense_Mutation_p.L710I	p.L650I	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		17	2417	-			650					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1948C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449919	0.26074	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453	T;T;T	0.74421	-0.84;-0.83;-0.83	5.62	4.73	0.59995	.	1.632910	0.03201	N	0.174724	T	0.80529	0.4640	L	0.27053	0.805	0.80722	D	1	B;P	0.52842	0.0;0.956	B;P	0.62184	0.002;0.899	T	0.63319	-0.6664	10	0.48119	T	0.1	.	13.199	0.59756	0.0:0.0:0.8412:0.1588	.	710;650	E9PE92;Q14123	.;PDE1C_HUMAN	I	710;650;650	ENSP00000379496:L710I;ENSP00000379494:L650I;ENSP00000318105:L650I	ENSP00000318105:L650I	L	-	1	0	PDE1C	31781815	0.858000	0.29795	0.748000	0.31131	0.208000	0.24298	1.187000	0.32090	1.362000	0.46000	0.655000	0.94253	CTT		PASS	0.488	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			21	33	21	33	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31876849	31876849	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:31876849G>T	ENST00000396191.1	-	11	1603	c.1148C>A	c.(1147-1149)gCa>gAa	p.A383E	PDE1C_ENST00000321453.7_Missense_Mutation_p.A383E|PDE1C_ENST00000396184.3_Missense_Mutation_p.A383E|PDE1C_ENST00000396182.2_Missense_Mutation_p.A383E|PDE1C_ENST00000396193.1_Missense_Mutation_p.A443E	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	383	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A383E(2)|p.A443E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GAGGTCCCATGCTTTTGCTGG	0.453																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1147-1149)GCA>GAA		phosphodiesterase 1C							214.0	183.0	194.0					7																	31876849		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31876849G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1148C>A	7.37:g.31876849G>T	ENSP00000379494:p.Ala383Glu					PDE1C_uc003tcn.1_Missense_Mutation_p.A383E|PDE1C_uc003tco.1_Missense_Mutation_p.A443E|PDE1C_uc003tcr.2_Missense_Mutation_p.A383E|PDE1C_uc003tcs.2_Missense_Mutation_p.A383E	p.A383E	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1617	-			383			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1148C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	3.008	-0.204446	0.06180	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.04	5.04	0.67666	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.218555	0.49305	D	0.000142	T	0.51856	0.1699	N	0.00677	-1.265	0.32823	D	0.503038	B;P;B	0.47191	0.185;0.891;0.185	B;P;B	0.49192	0.138;0.602;0.048	T	0.66077	-0.6013	10	0.34782	T	0.22	.	13.3387	0.60533	0.0:0.0:0.8419:0.1581	.	383;443;383	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	E	443;383;383;383;383	ENSP00000379496:A443E;ENSP00000379494:A383E;ENSP00000318105:A383E;ENSP00000379487:A383E;ENSP00000379485:A383E	ENSP00000318105:A383E	A	-	2	0	PDE1C	31843374	0.998000	0.40836	0.456000	0.27044	0.993000	0.82548	2.744000	0.47450	2.488000	0.83962	0.609000	0.83330	GCA		PASS	0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			47	116	47	116	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71130396	71130396	+	Splice_Site	SNP	G	G	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:71130396G>C	ENST00000333538.5	+	7	1715	c.1081G>C	c.(1081-1083)Gta>Cta	p.V361L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	361	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V361L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACCCCTAGGTATGGCTCTG	0.502																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1081-1083)GTA>CTA		UDP-GalNAc:polypeptide							90.0	96.0	94.0					7																	71130396		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130396G>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1081-1G>C	7.37:g.71130396G>C						WBSCR17_uc003tvz.2_Missense_Mutation_p.V60L	p.V361L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			7	1081	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	361			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1081G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985012	0.93044	.	.	ENSG00000185274	ENST00000333538	T	0.66815	-0.23	5.85	5.85	0.93711	.	0.059535	0.64402	N	0.000003	T	0.82116	0.4967	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.81609	-0.0855	9	.	.	.	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	361	Q6IS24	GLTL3_HUMAN	L	361	ENSP00000329654:V361L	.	V	+	1	0	WBSCR17	70768332	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	GTA		PASS	0.502	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Missense_Mutation	61	169	61	169	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459472	100459472	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:100459472G>C	ENST00000354161.3	+	12	1775	c.1650G>C	c.(1648-1650)ttG>ttC	p.L550F	SLC12A9_ENST00000428758.1_Missense_Mutation_p.L550F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.L461F|SLC12A9_ENST00000275729.3_Missense_Mutation_p.L461F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.L550F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	550					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.L550F(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)					TGCTGCGGTTGGCCAACCAGC	0.657																																						uc003uwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1648-1650)TTG>TTC		solute carrier family 12 (potassium/chloride							31.0	35.0	34.0					7																	100459472		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459472G>C	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.1650G>C	7.37:g.100459472G>C	ENSP00000275730:p.Leu550Phe					SLC12A9_uc003uwq.2_Missense_Mutation_p.L461F|SLC12A9_uc011kki.1_Missense_Mutation_p.L81F|SLC12A9_uc003uwr.2_Missense_Mutation_p.L286F|SLC12A9_uc003uws.2_Missense_Mutation_p.L81F|SLC12A9_uc003uwt.2_Missense_Mutation_p.L286F|SLC12A9_uc003uwv.2_Missense_Mutation_p.L81F	p.L550F	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			12	1792	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		550			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1650G>C	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131729	0.06753	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.90955	-2.19;-2.18;-1.82;-1.82;-2.76	5.56	3.64	0.41730	.	0.062539	0.64402	D	0.000005	T	0.62925	0.2468	N	0.00471	-1.455	0.34836	D	0.740164	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.64322	-0.6435	10	0.02654	T	1	.	3.9568	0.09393	0.0879:0.1594:0.5881:0.1646	.	461;550	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	F	550;550;461;461;550;176	ENSP00000443702:L550F;ENSP00000408301:L550F;ENSP00000275729:L461F;ENSP00000413796:L461F;ENSP00000275730:L550F	ENSP00000275729:L461F	L	+	3	2	SLC12A9	100297408	0.998000	0.40836	0.987000	0.45799	0.912000	0.54170	0.466000	0.22019	1.342000	0.45619	0.478000	0.44815	TTG		PASS	0.657	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		17	27	17	27	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551477	100551477	+	Silent	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:100551477A>T	ENST00000319509.7	+	1	228	c.228A>T	c.(226-228)acA>acT	p.T76T				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1741					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.T76T(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAACTCGAACACACATCATTT	0.493																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							203.0	198.0	199.0					7																	100551477		876	1991	2867	SO:0001819	synonymous_variant	0							g.chr7:100551477A>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.228A>T	7.37:g.100551477A>T						uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.728A>T																																																																																					PASS	0.493	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		36	166	36	166	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915250	119915250	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:119915250C>T	ENST00000331113.4	+	1	1529	c.564C>T	c.(562-564)taC>taT	p.Y188Y		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	188					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Y188Y(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGTGTTCTACTATGTCACGG	0.582																																						uc003vjj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(562-564)TAC>TAT		potassium voltage-gated channel, Shal-related							91.0	87.0	88.0					7																	119915250		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915250C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.564C>T	7.37:g.119915250C>T							p.Y188Y	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1529	+	all_neural(327;0.117)		188			Helical; Name=Segment S1; (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.564C>T	CCDS5776.1																																																																																				PASS	0.582	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		31	63	31	63	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138252234	138252234	+	Silent	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:138252234T>A	ENST00000343526.4	+	10	1754	c.1539T>A	c.(1537-1539)ccT>ccA	p.P513P	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.P479P			O15164	TIF1A_HUMAN	tripartite motif containing 24	513					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P479P(1)|p.P513P(1)|p.P437P(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGCAACCGCCTCCACGTTTGA	0.343																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1537-1539)CCT>CCA		transcriptional intermediary factor 1 alpha							100.0	96.0	97.0					7																	138252234		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138252234T>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1539T>A	7.37:g.138252234T>A						TRIM24_uc003vub.2_Silent_p.P479P	p.P513P	NM_015905	NP_056989	O15164	TIF1A_HUMAN			10	1754	+			513					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.1539T>A	CCDS5847.1																																																																																				PASS	0.343	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		35	152	35	152	---	---	---	---
EN2	2020	broad.mit.edu	37	7	155255319	155255319	+	Silent	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr7:155255319C>G	ENST00000297375.4	+	2	1188	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	313					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L313L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTGCACCTCATGGCACAGG	0.597																																						uc003wmb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(937-939)CTC>CTG		engrailed homeobox 2							62.0	53.0	56.0					7																	155255319		2203	4300	6503	SO:0001819	synonymous_variant	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255319C>G		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.939C>G	7.37:g.155255319C>G							p.L313L	NM_001427	NP_001418	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1188	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	313					A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	c.939C>G	CCDS5940.1																																																																																				PASS	0.597	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		10	28	10	28	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11995293	11995293	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:11995293G>A	ENST00000333796.3	-	1	1293	c.977C>T	c.(976-978)gCt>gTt	p.A326V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	326	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A326V(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACTCCACCCAGCGTGGACCAG	0.483																																						uc003wvc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(976-978)GCT>GTT		deubiquitinating enzyme 3							13.0	14.0	14.0					8																	11995293		1620	3848	5468	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995293G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.977C>T	8.37:g.11995293G>A	ENSP00000333329:p.Ala326Val					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.A326V	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	977	-			326						Missense_Mutation	SNP	ENST00000333796.3	37	c.977C>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422730	0.25639	.	.	ENSG00000223443	ENST00000333796	T	0.30981	1.51	0.935	0.935	0.19483	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.753141	0.11372	N	0.570767	T	0.22003	0.0530	L	0.34521	1.04	0.26556	N	0.97383	B	0.16603	0.018	B	0.22152	0.038	T	0.23297	-1.0192	10	0.36615	T	0.2	.	7.8661	0.29539	0.0:0.0:1.0:0.0	.	326	Q6R6M4	U17L2_HUMAN	V	326	ENSP00000333329:A326V	ENSP00000333329:A326V	A	-	2	0	USP17L2	12032702	1.000000	0.71417	0.002000	0.10522	0.005000	0.04900	6.080000	0.71299	0.878000	0.35920	0.472000	0.43445	GCT		PASS	0.483	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		29	70	29	70	---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24259593	24259593	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:24259593T>G	ENST00000256412.4	+	12	1528	c.1308T>G	c.(1306-1308)tgT>tgG	p.C436W	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.C357W|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.C357W	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	436	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C436W(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ACTGTGATTGTGGCTCTCCTA	0.373																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1306-1308)TGT>TGG		ADAM-like, decysin 1 isoform 1							85.0	87.0	86.0					8																	24259593		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24259593T>G	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1308T>G	8.37:g.24259593T>G	ENSP00000256412:p.Cys436Trp					ADAMDEC1_uc010lub.2_Missense_Mutation_p.C357W|ADAMDEC1_uc011lab.1_Missense_Mutation_p.C357W	p.C436W	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	12	1528	+		Prostate(55;0.0181)	436			Disintegrin.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.1308T>G	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720547	0.68959	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.16457	2.34;2.34;2.34	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (3);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.53012	0.1770	H	0.94542	3.55	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.65713	-0.6101	10	0.87932	D	0	-13.3025	13.1979	0.59749	0.0:0.0:0.0:1.0	.	436	O15204	ADEC1_HUMAN	W	436;357;357	ENSP00000256412:C436W;ENSP00000442592:C357W;ENSP00000428993:C357W	ENSP00000256412:C436W	C	+	3	2	ADAMDEC1	24315538	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.045000	0.49838	2.367000	0.80283	0.528000	0.53228	TGT		PASS	0.373	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		51	119	51	119	---	---	---	---
PBK	55872	broad.mit.edu	37	8	27690580	27690580	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:27690580C>T	ENST00000301905.4	-	2	514	c.51G>A	c.(49-51)aaG>aaA	p.K17K	PBK_ENST00000522944.1_Silent_p.K17K	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTG	0.318																																						uc003xgi.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(49-51)AAG>AAA		PDZ binding kinase							123.0	112.0	116.0					8																	27690580		2203	4299	6502	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27690580C>T	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.51G>A	8.37:g.27690580C>T						PBK_uc011lap.1_Silent_p.K17K	p.K17K	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	2	252	-		Ovarian(32;0.000953)	17					B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.51G>A	CCDS6063.1																																																																																				PASS	0.318	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		22	54	22	54	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30706340	30706340	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:30706340C>G	ENST00000256246.2	-	1	268	c.194G>C	c.(193-195)aGt>aCt	p.S65T	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	65					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S65T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCTGCAGTACTACTCTGTTC	0.398																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(193-195)AGT>ACT		testis expressed 15							179.0	175.0	177.0					8																	30706340		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30706340C>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.194G>C	8.37:g.30706340C>G	ENSP00000256246:p.Ser65Thr					TEX15_uc011lbc.1_Missense_Mutation_p.S452T	p.S65T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	194	-			65						Missense_Mutation	SNP	ENST00000256246.2	37	c.194G>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.283459	0.00251	.	.	ENSG00000133863	ENST00000256246	T	0.09911	2.93	5.7	0.662	0.17880	.	0.705245	0.13375	N	0.392609	T	0.04182	0.0116	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38112	-0.9676	10	0.87932	D	0	.	7.213	0.25945	0.0:0.1701:0.5238:0.306	.	345;65	D3DSV6;Q9BXT5	.;TEX15_HUMAN	T	65	ENSP00000256246:S65T	ENSP00000256246:S65T	S	-	2	0	TEX15	30825882	0.001000	0.12720	0.045000	0.18777	0.067000	0.16453	0.158000	0.16422	0.092000	0.17331	-0.294000	0.09567	AGT		PASS	0.398	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			65	176	65	176	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35542230	35542230	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:35542230G>A	ENST00000404895.2	+	6	1210	c.882G>A	c.(880-882)atG>atA	p.M294I	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.M294I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M289I|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	294	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.M289I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGAGGGAATGTCAGTGCAGA	0.498																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(880-882)ATG>ATA		unc-5 homolog D precursor							175.0	155.0	162.0					8																	35542230		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35542230G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.882G>A	8.37:g.35542230G>A	ENSP00000385143:p.Met294Ile					UNC5D_uc003xjs.1_Missense_Mutation_p.M289I|UNC5D_uc003xjt.1_Missense_Mutation_p.M63I	p.M294I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	6	1210	+			294			TSP type-1 1.|Extracellular (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.882G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465204	0.84425	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.52057	0.68;0.68;0.68	5.39	5.39	0.77823	.	0.035903	0.85682	D	0.000000	T	0.39410	0.1077	N	0.10782	0.045	0.80722	D	1	D;D;D	0.58620	0.976;0.983;0.969	P;P;P	0.52066	0.588;0.689;0.624	T	0.32241	-0.9914	10	0.46703	T	0.11	-25.8909	12.8297	0.57738	0.0746:0.0:0.9253:0.0	.	294;289;294	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	294;294;289	ENSP00000385143:M294I;ENSP00000412652:M294I;ENSP00000394303:M289I	ENSP00000385143:M294I	M	+	3	0	UNC5D	35661772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.821000	0.75272	2.709000	0.92574	0.655000	0.94253	ATG		PASS	0.498	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			53	152	53	152	---	---	---	---
FAM150A	389658	broad.mit.edu	37	8	53452398	53452398	+	Silent	SNP	C	C	G	rs147680673		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:53452398C>G	ENST00000358543.4	-	3	568	c.318G>C	c.(316-318)acG>acC	p.T106T	FAM150A_ENST00000523939.1_Silent_p.T106T	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region (GO:0005576)		p.T106T(1)		lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				TACAAGCTGGCGTTGAGCACT	0.388																																						uc003xrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)ACG>ACC		hypothetical protein LOC389658 precursor							92.0	93.0	93.0					8																	53452398		2203	4300	6503	SO:0001819	synonymous_variant	389658					extracellular region		g.chr8:53452398C>G		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.318G>C	8.37:g.53452398C>G						FAM150A_uc011ldt.1_Silent_p.T106T	p.T106T	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN			3	523	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	106					B7ZMG9	Silent	SNP	ENST00000358543.4	37	c.318G>C	CCDS6150.1																																																																																				PASS	0.388	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		22	55	22	55	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541754	55541754	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:55541754C>T	ENST00000220676.1	+	4	5460	c.5312C>T	c.(5311-5313)tCa>tTa	p.S1771L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1771					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1771L(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACACCACATCAGTGGACACC	0.438																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(4)|pancreas(1)	12						c.(5311-5313)TCA>TTA		retinitis pigmentosa RP1 protein							94.0	92.0	93.0					8																	55541754		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541754C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5312C>T	8.37:g.55541754C>T	ENSP00000220676:p.Ser1771Leu					RP1_uc011ldy.1_Intron	p.S1771L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5460	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1771						Missense_Mutation	SNP	ENST00000220676.1	37	c.5312C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796745	0.70567	.	.	ENSG00000104237	ENST00000220676	T	0.55930	0.49	5.93	5.93	0.95920	.	0.000000	0.42053	D	0.000769	T	0.74928	0.3781	M	0.74258	2.255	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.75855	-0.3170	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1771	P56715	RP1_HUMAN	L	1771	ENSP00000220676:S1771L	ENSP00000220676:S1771L	S	+	2	0	RP1	55704307	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	5.763000	0.68818	2.805000	0.96524	0.655000	0.94253	TCA		PASS	0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	100	14	100	---	---	---	---
NKAIN3	286183	broad.mit.edu	37	8	63659609	63659609	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:63659609C>A	ENST00000523211.1	+	4	524	c.392C>A	c.(391-393)aCg>aAg	p.T131K	NKAIN3_ENST00000328472.5_Missense_Mutation_p.T131K|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T131K(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GACGATTACACGTACGTCTCT	0.498																																						uc010lyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)ACG>AAG		Na+/K+ transporting ATPase interacting 3							132.0	133.0	132.0					8																	63659609		2093	4227	6320	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659609C>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.392C>A	8.37:g.63659609C>A	ENSP00000429073:p.Thr131Lys						p.T131K	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			4	524	+	Breast(64;0.127)	Lung NSC(129;0.187)	131						Missense_Mutation	SNP	ENST00000523211.1	37	c.392C>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004968	0.35415	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.12255	2.7;2.7	5.37	4.49	0.54785	.	0.149542	0.46758	D	0.000279	T	0.05502	0.0145	N	0.03608	-0.345	0.42144	D	0.991528	P	0.35600	0.511	B	0.31614	0.133	T	0.48736	-0.9009	10	0.17369	T	0.5	-20.2709	12.5805	0.56388	0.0:0.9199:0.0:0.0801	.	131	Q8N8D7	NKAI3_HUMAN	K	131	ENSP00000429073:T131K;ENSP00000333627:T131K	ENSP00000333627:T131K	T	+	2	0	NKAIN3	63822163	1.000000	0.71417	0.857000	0.33713	0.546000	0.35178	4.549000	0.60726	2.517000	0.84864	0.650000	0.86243	ACG		PASS	0.498	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		29	51	29	51	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578617	67578617	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:67578617C>T	ENST00000310421.4	-	1	835	c.577G>A	c.(577-579)Gac>Aac	p.D193N	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	193					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.D193N(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCAGAGTGTCATGCAAATAC	0.542																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(577-579)GAC>AAC		valosin containing protein (p97)/p47 complex							120.0	119.0	120.0					8																	67578617		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578617C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.577G>A	8.37:g.67578617C>T	ENSP00000309031:p.Asp193Asn					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.D193N	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	836	-		Lung NSC(129;0.142)|all_lung(136;0.227)	193					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.577G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321276	0.81580	.	.	ENSG00000175073	ENST00000310421	T	0.33865	1.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.49322	-0.8952	10	0.41790	T	0.15	-12.5686	20.4024	0.99000	0.0:1.0:0.0:0.0	.	193	Q96JH7	VCIP1_HUMAN	N	193	ENSP00000309031:D193N	ENSP00000309031:D193N	D	-	1	0	VCPIP1	67741171	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.794000	0.85869	2.827000	0.97445	0.650000	0.86243	GAC		PASS	0.542	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			35	258	35	258	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72958829	72958829	+	Silent	SNP	G	G	A	rs374703953		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:72958829G>A	ENST00000262209.4	-	17	2187	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	660					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.F660F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGATATTTGAAATTATACT	0.299																																						uc003xza.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1978-1980)TTC>TTT		ankyrin-like protein 1	Menthol(DB00825)						116.0	126.0	122.0					8																	72958829		2203	4299	6502	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72958829G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1980C>T	8.37:g.72958829G>A						uc011lff.1_Intron|uc003xyy.2_Intron	p.F660F	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2155	-			660			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1980C>T	CCDS34908.1																																																																																				PASS	0.299	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		50	124	50	124	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72964929	72964929	+	Silent	SNP	A	A	T	rs376894578		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:72964929A>T	ENST00000262209.4	-	14	1923	c.1716T>A	c.(1714-1716)gcT>gcA	p.A572A	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	572					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A572A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGACTATGTCAGCATTGTGGC	0.473																																						uc003xza.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1714-1716)GCT>GCA		ankyrin-like protein 1	Menthol(DB00825)						167.0	141.0	150.0					8																	72964929		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72964929A>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1716T>A	8.37:g.72964929A>T						uc011lff.1_RNA|uc003xyy.2_RNA	p.A572A	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1891	-			572			Cytoplasmic (Potential).|ANK 14.		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1716T>A	CCDS34908.1																																																																																				PASS	0.473	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		57	170	57	170	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87680338	87680338	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:87680338G>A	ENST00000320005.5	-	5	599	c.552C>T	c.(550-552)taC>taT	p.Y184Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	184					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y184Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACAGCCTGTAGTAATGTTCTG	0.368																																						uc003ydx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(550-552)TAC>TAT		cyclic nucleotide gated channel beta 3							165.0	153.0	157.0					8																	87680338		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87680338G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.552C>T	8.37:g.87680338G>A						CNGB3_uc010maj.2_Silent_p.Y46Y	p.Y184Y	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			5	598	-			184			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.552C>T	CCDS6244.1																																																																																				PASS	0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		85	170	85	170	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95888702	95888702	+	Silent	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:95888702T>C	ENST00000523731.1	+	26	2989	c.2856T>C	c.(2854-2856)gaT>gaC	p.D952D	INTS8_ENST00000447247.1_Silent_p.D935D	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	952					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.D952D(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAGAAACAGATAAAAGACAAA	0.284																																						uc003yhb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2854-2856)GAT>GAC		integrator complex subunit 8							59.0	57.0	58.0					8																	95888702		2200	4292	6492	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95888702T>C	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2856T>C	8.37:g.95888702T>C						INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.D762D	p.D952D	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			26	2982	+	Breast(36;1.05e-06)		952					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.2856T>C	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	T	7.428	0.638152	0.14386	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.05	1.35	0.21983	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48375	-0.9041	4	.	.	.	-1.0418	8.7207	0.34439	0.0:0.3832:0.0:0.6168	.	.	.	.	T	757	.	.	I	+	2	0	INTS8	95957878	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.635000	0.37134	0.049000	0.15920	-0.415000	0.06103	ATA		PASS	0.284	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		23	73	23	73	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105405020	105405020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:105405020G>A	ENST00000351513.2	-	8	1567	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	479					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.R479*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCCGGTCTCGCTGCTTTATT	0.478																																						uc003yly.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1435-1437)CGA>TGA		dihydropyrimidinase							172.0	169.0	170.0					8																	105405020		2203	4300	6503	SO:0001587	stop_gained	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105405020G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1435C>T	8.37:g.105405020G>A	ENSP00000276651:p.Arg479*					DPYS_uc010mcf.1_Nonsense_Mutation_p.R49*	p.R479*	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		8	1564	-			479						Nonsense_Mutation	SNP	ENST00000351513.2	37	c.1435C>T	CCDS6302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.298483|8.298483	0.98750|0.98750	.|.	.|.	ENSG00000147647|ENSG00000147647	ENST00000533874|ENST00000351513	.|.	.|.	.|.	6.02|6.02	1.65|1.65	0.23941|0.23941	.|.	.|0.054652	.|0.64402	.|D	.|0.000001	T|.	0.35913|.	0.0948|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35101|.	-0.9802|.	3|.	.|0.02654	.|T	.|1	-7.0858|-7.0858	16.7514|16.7514	0.85487|0.85487	0.0:0.0:0.4239:0.5761|0.0:0.0:0.4239:0.5761	.|.	.|.	.|.	.|.	V|X	22|479	.|.	.|ENSP00000276651:R479X	A|R	-|-	2|1	0|2	DPYS|DPYS	105474196|105474196	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.996000|0.996000	0.88848|0.88848	1.576000|1.576000	0.36504|0.36504	0.367000|0.367000	0.24454|0.24454	0.650000|0.650000	0.86243|0.86243	GCG|CGA		PASS	0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		99	281	99	281	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133153486	133153486	+	Missense_Mutation	SNP	G	G	A	rs201688404		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:133153486G>A	ENST00000388996.4	-	10	1775	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A332V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A452V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	452					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A452V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTCTTCTATGGCATCTACATT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19654	0.0		0.001	False		,,,				2504	0.0					uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1354-1356)GCC>GTC		potassium voltage-gated channel KQT-like protein							132.0	139.0	137.0					8																	133153486		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153486G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1355C>T	8.37:g.133153486G>A	ENSP00000373648:p.Ala452Val					KCNQ3_uc010mdt.2_Missense_Mutation_p.A452V	p.A452V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1580	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		452					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1355C>T	CCDS34943.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.80	2.941420	0.53079	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99652	-6.3;-6.3;-6.3	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.113541	0.64402	D	0.000011	D	0.98504	0.9501	N	0.11201	0.11	0.34849	D	0.741436	D;D	0.57571	0.98;0.98	P;P	0.53224	0.721;0.721	D	0.99957	1.1653	10	0.33141	T	0.24	-23.7503	18.6977	0.91607	0.0:0.0:1.0:0.0	.	452;452	E7ET42;O43525	.;KCNQ3_HUMAN	V	452;332;452;441;331	ENSP00000373648:A452V;ENSP00000429799:A332V;ENSP00000428790:A452V	ENSP00000373648:A452V	A	-	2	0	KCNQ3	133222668	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.188000	0.50958	2.652000	0.90054	0.655000	0.94253	GCC		PASS	0.458	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		63	182	63	182	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163563	139163563	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr8:139163563G>T	ENST00000395297.1	-	13	3325	c.3155C>A	c.(3154-3156)cCt>cAt	p.P1052H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1052								p.P1052H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCTGGCAGGGGTCTCCTT	0.522										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3154-3156)CCT>CAT		hypothetical protein LOC51059							61.0	60.0	60.0					8																	139163563		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163563G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3155C>A	8.37:g.139163563G>T	ENSP00000378710:p.Pro1052His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P953H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P614H|FAM135B_uc003yvb.2_Missense_Mutation_p.P614H	p.P1052H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3326	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1052					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3155C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275637	0.80580	.	.	ENSG00000147724	ENST00000395297	T	0.53423	0.62	5.17	5.17	0.71159	.	0.065793	0.64402	D	0.000008	T	0.70422	0.3222	M	0.77103	2.36	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.74811	-0.3538	10	0.87932	D	0	-19.6846	17.237	0.87001	0.0:0.0:1.0:0.0	.	1052;1052;1052	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	1052	ENSP00000378710:P1052H	ENSP00000276737:P1052H	P	-	2	0	FAM135B	139232745	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.444000	0.97578	2.426000	0.82243	0.650000	0.86243	CCT		PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		40	72	40	72	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18777764	18777764	+	Silent	SNP	G	G	T	rs372395219		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:18777764G>T	ENST00000380548.4	+	19	3876	c.3537G>T	c.(3535-3537)tcG>tcT	p.S1179S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1179	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1179S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCAGCCTCGGAGGTGGTCA	0.677																																						uc003zne.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(3535-3537)TCG>TCT		ADAMTS-like 1 isoform 4 precursor							22.0	27.0	25.0					9																	18777764		2114	4235	6349	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777764G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3537G>T	9.37:g.18777764G>T							p.S1179S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3664	+			1179			Ig-like C2-type 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3537G>T	CCDS47954.1																																																																																				PASS	0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			15	14	15	14	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21334855	21334855	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:21334855T>C	ENST00000359039.4	-	1	524	c.4A>G	c.(4-6)Aaa>Gaa	p.K2E	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	2					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.K2E(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGGGACACTTTCATGTGAAAG	0.468																																						uc003zoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4-6)AAA>GAA		kelch-like 9							50.0	50.0	50.0					9																	21334855		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334855T>C	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.4A>G	9.37:g.21334855T>C	ENSP00000351933:p.Lys2Glu					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.K2E	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	575	-			2					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.4A>G	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900060	0.52227	.	.	ENSG00000198642	ENST00000359039	T	0.71579	-0.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	T	0.52964	0.1767	N	0.08118	0	0.80722	D	1	B	0.22276	0.067	B	0.20767	0.031	T	0.54846	-0.8232	10	0.72032	D	0.01	.	14.2142	0.65783	0.0:0.0:0.0:1.0	.	2	Q9P2J3	KLHL9_HUMAN	E	2	ENSP00000351933:K2E	ENSP00000351933:K2E	K	-	1	0	KLHL9	21324855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.875000	0.69660	2.304000	0.77564	0.528000	0.53228	AAA		PASS	0.468	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		51	62	51	62	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	37020777	37020777	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:37020777A>G	ENST00000358127.4	-	2	142	c.68T>C	c.(67-69)cTt>cCt	p.L23P	PAX5_ENST00000446742.1_Missense_Mutation_p.L23P|PAX5_ENST00000523241.1_Missense_Mutation_p.L23P|PAX5_ENST00000520281.1_Missense_Mutation_p.L23P|PAX5_ENST00000377847.2_Missense_Mutation_p.L23P|PAX5_ENST00000377853.2_Missense_Mutation_p.L23P|PAX5_ENST00000377852.2_Missense_Mutation_p.L23P|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.L23P|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.L23P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	23	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)|p.L23P(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AACCCCCCCAAGCTGATTCAC	0.527			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	42	Unknown(41)|Substitution - Missense(1)	p.?(31)	haematopoietic_and_lymphoid_tissue(41)|lung(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(67-69)CTT>CCT		paired box 5							96.0	89.0	92.0					9																	37020777		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020777A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.68T>C	9.37:g.37020777A>G	ENSP00000350844:p.Leu23Pro					PAX5_uc011lpw.1_Missense_Mutation_p.L23P|PAX5_uc011lpx.1_Missense_Mutation_p.L23P|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.L23P|PAX5_uc011lpz.1_Missense_Mutation_p.L23P|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.L23P|PAX5_uc010mlp.1_Missense_Mutation_p.L23P|PAX5_uc011lqc.1_Missense_Mutation_p.L23P|PAX5_uc010mlr.1_Missense_Mutation_p.L23P|PAX5_uc011lqd.1_Missense_Mutation_p.L22P|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.L23P	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	2	516	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	23			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.68T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514511	0.85389	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	5.59	5.59	0.84812	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.99832	0.9924	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.997;1.0;1.0;0.999;0.997;0.997	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.991;0.999;1.0;0.991;1.0;1.0;0.997;0.991;0.991	D	0.96669	0.9495	10	0.87932	D	0	.	15.7627	0.78101	1.0:0.0:0.0:0.0	.	22;23;23;23;23;23;23;23;23;23	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	P	23	ENSP00000350844:L23P;ENSP00000367084:L23P;ENSP00000367083:L23P;ENSP00000429637:L23P;ENSP00000429291:L23P;ENSP00000430773:L23P;ENSP00000404687:L23P;ENSP00000412188:L23P;ENSP00000367078:L23P	ENSP00000350844:L23P	L	-	2	0	PAX5	37010777	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.310000	0.96267	2.120000	0.65058	0.533000	0.62120	CTT		PASS	0.527	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			59	62	59	62	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90503380	90503380	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:90503380C>A	ENST00000325643.5	+	4	4044	c.3978C>A	c.(3976-3978)atC>atA	p.I1326I		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1326					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I1326I(1)									TGGGACAAATCCTGGTGGACA	0.587																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3976-3978)ATC>ATA		chromosome 9 open reading frame 79							73.0	72.0	72.0					9																	90503380		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90503380C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3978C>A	9.37:g.90503380C>A							p.I1326I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	4013	+			1326					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.3978C>A	CCDS6676.1																																																																																				PASS	0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		25	64	25	64	---	---	---	---
MURC	347273	broad.mit.edu	37	9	103340507	103340507	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:103340507G>T	ENST00000307584.5	+	1	147	c.82G>T	c.(82-84)Gac>Tac	p.D28Y	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	28					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.D28Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGAAGACCAAGACGCTGCTCT	0.448																																						uc004bba.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)GAC>TAC		muscle-related coiled-coil protein							127.0	118.0	121.0					9																	103340507		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103340507G>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.82G>T	9.37:g.103340507G>T	ENSP00000418668:p.Asp28Tyr						p.D28Y	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			1	172	+		Acute lymphoblastic leukemia(62;0.0461)	28					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.82G>T	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417594	0.42918	.	.	ENSG00000170681	ENST00000307584	T	0.59083	0.29	5.39	5.39	0.77823	.	0.253555	0.38217	N	0.001780	T	0.71400	0.3335	L	0.50333	1.59	0.30859	N	0.733726	D	0.89917	1.0	D	0.76575	0.988	T	0.73007	-0.4118	10	0.66056	D	0.02	-26.5847	16.6642	0.85248	0.0:0.0:1.0:0.0	.	28	Q5BKX8	MURC_HUMAN	Y	28	ENSP00000418668:D28Y	ENSP00000418668:D28Y	D	+	1	0	MURC	102380328	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	3.753000	0.55180	2.532000	0.85374	0.655000	0.94253	GAC		PASS	0.448	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		66	106	66	106	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113139637	113139637	+	Missense_Mutation	SNP	C	C	A	rs370881734		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:113139637C>A	ENST00000401783.2	-	45	10754	c.10418G>T	c.(10417-10419)cGa>cTa	p.R3473L	SVEP1_ENST00000297826.5_Missense_Mutation_p.R1399L|SVEP1_ENST00000374469.1_Missense_Mutation_p.R3450L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3473					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R3476Q(1)|p.R3476L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACATGGAAATCGACAGACAGC	0.478																																						uc010mtz.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(7)	7						c.(10417-10419)CGA>CTA		polydom							66.0	64.0	65.0					9																	113139637		1895	4122	6017	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113139637C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10418G>T	9.37:g.113139637C>A	ENSP00000384917:p.Arg3473Leu					SVEP1_uc010mty.2_Missense_Mutation_p.R1399L	p.R3473L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			45	10755	-			3473					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10418G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768335	0.49680	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63744	0.8;0.8;-0.06	5.6	4.71	0.59529	Complement control module (1);Epidermal growth factor-like (1);	0.183789	0.49305	D	0.000152	T	0.48095	0.1481	N	0.21282	0.65	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35773	-0.9775	10	0.29301	T	0.29	.	14.3991	0.67031	0.0:0.9293:0.0:0.0707	.	3473	Q4LDE5	SVEP1_HUMAN	L	3473;3450;1399	ENSP00000384917:R3473L;ENSP00000363593:R3450L;ENSP00000297826:R1399L	ENSP00000297826:R1399L	R	-	2	0	SVEP1	112179458	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	7.315000	0.78998	1.373000	0.46208	0.655000	0.94253	CGA		PASS	0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				45	63	45	63	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113228155	113228155	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:113228155A>G	ENST00000401783.2	-	18	3648	c.3312T>C	c.(3310-3312)tcT>tcC	p.S1104S	SVEP1_ENST00000374469.1_Silent_p.S1081S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.S1104S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1104					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.S1104S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCACATGCAGAAATGTTCA	0.433																																						uc010mtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)	7						c.(3310-3312)TCT>TCC		polydom							58.0	52.0	54.0					9																	113228155		1865	4089	5954	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113228155A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3312T>C	9.37:g.113228155A>G						SVEP1_uc010mua.1_Silent_p.S1104S	p.S1104S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			18	3649	-			1104					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3312T>C	CCDS48004.1																																																																																				PASS	0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	42	11	42	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713130	138713130	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:138713130C>T	ENST00000389532.4	-	11	3441	c.3377G>A	c.(3376-3378)aGt>aAt	p.S1126N	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S848N|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1137N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1126					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.S1126N(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTCTCTACACTGGGCGTTGG	0.657																																						uc004cgr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3376-3378)AGT>AAT		calmodulin regulated spectrin-associated protein							43.0	55.0	51.0					9																	138713130		2198	4296	6494	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713130C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3377G>A	9.37:g.138713130C>T	ENSP00000374183:p.Ser1126Asn					CAMSAP1_uc004cgq.3_Missense_Mutation_p.S1016N|CAMSAP1_uc010nbg.2_Missense_Mutation_p.S848N	p.S1126N	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3377	-			1126					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3377G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206254	0.58343	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.18174	2.23;2.24;2.23	5.11	4.2	0.49525	.	0.116009	0.85682	N	0.000000	T	0.28732	0.0712	M	0.77103	2.36	0.40035	D	0.975586	P;B	0.47762	0.9;0.346	P;B	0.46049	0.502;0.3	T	0.25572	-1.0128	10	0.87932	D	0	-2.1229	13.7261	0.62759	0.0:0.9245:0.0:0.0755	.	1126;1137	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	1126;848;1137	ENSP00000374183:S1126N;ENSP00000312463:S848N;ENSP00000386420:S1137N	ENSP00000312463:S848N	S	-	2	0	CAMSAP1	137852951	0.986000	0.35501	0.065000	0.19835	0.834000	0.47266	4.413000	0.59795	1.254000	0.44035	0.561000	0.74099	AGT		PASS	0.657	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		50	93	50	93	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139397638	139397638	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr9:139397638C>A	ENST00000277541.6	-	27	5238	c.5163G>T	c.(5161-5163)gtG>gtT	p.V1721V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1721		Cleavage; by ADAM17.			anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1722>ARWGSLNIPYLIEA(1)|p.V1722V(1)|p.V1721V(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTTACTCTGCACGGCCTCGA	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - coding silent(2)|Complex - insertion inframe(1)	p.V1722>ARWGSLNIPYLIEA(1)|p.A1721_V1722>YG(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5161-5163)GTG>GTT		notch1 preproprotein							40.0	49.0	46.0					9																	139397638		2095	4215	6310	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397638C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5163G>T	9.37:g.139397638C>A		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.V951V	p.V1721V	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5163	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1721			Extracellular (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5163G>T	CCDS43905.1																																																																																				PASS	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	37	24	37	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13838563	13838563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:13838563C>A	ENST00000357447.2	-	5	600	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	FRMD4A_ENST00000342409.2_Missense_Mutation_p.D94Y|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D78Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D63Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	78	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.D78Y(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACTCTTCGATCTAGCTGAAGC	0.393																																						uc001ims.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(232-234)GAT>TAT		FERM domain containing 4A							136.0	134.0	134.0					10																	13838563		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13838563C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.232G>T	10.37:g.13838563C>A	ENSP00000350032:p.Asp78Tyr					FRMD4A_uc009xjf.1_Missense_Mutation_p.D78Y|FRMD4A_uc001imt.1_Missense_Mutation_p.D111Y|FRMD4A_uc001imu.1_Missense_Mutation_p.D94Y	p.D78Y	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			5	584	-			78			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.232G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865150	0.71949	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	4.87	4.87	0.63330	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.91116	0.4926	10	0.48119	T	0.1	-16.1395	14.9407	0.70992	0.0:1.0:0.0:0.0	.	94;111;78	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	Y	63;78;78;111;94	ENSP00000351438:D63Y;ENSP00000350032:D78Y;ENSP00000367764:D78Y;ENSP00000264546:D111Y;ENSP00000344237:D94Y	ENSP00000264546:D111Y	D	-	1	0	FRMD4A	13878569	1.000000	0.71417	0.812000	0.32479	0.937000	0.57800	6.725000	0.74752	2.244000	0.73946	0.462000	0.41574	GAT		PASS	0.393	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		77	101	77	101	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18292244	18292244	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:18292244C>T	ENST00000377369.2	+	12	2177	c.1904C>T	c.(1903-1905)aCa>aTa	p.T635I	SLC39A12_ENST00000377371.3_Missense_Mutation_p.T634I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T501I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T598I|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	635					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.T598I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGGATCTTCACAGTCACTGCT	0.398																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1903-1905)ACA>ATA		solute carrier family 39 (zinc transporter),							175.0	156.0	163.0					10																	18292244		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292244C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1904C>T	10.37:g.18292244C>T	ENSP00000366586:p.Thr635Ile					SLC39A12_uc001ipn.2_Missense_Mutation_p.T598I|SLC39A12_uc001ipp.2_Missense_Mutation_p.T634I|SLC39A12_uc010qck.1_Missense_Mutation_p.T501I|uc001ipq.1_RNA	p.T635I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2177	+			635			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1904C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557192	0.86231	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.24	5.24	0.73138	.	0.182898	0.51477	D	0.000087	T	0.66025	0.2748	L	0.59436	1.845	0.48135	D	0.999596	D;D;D	0.71674	0.998;0.992;0.997	D;D;D	0.67231	0.95;0.932;0.911	T	0.68074	-0.5505	10	0.72032	D	0.01	-13.8486	19.1769	0.93605	0.0:1.0:0.0:0.0	.	634;635;598	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	I	635;598;634;501;555	ENSP00000366586:T635I;ENSP00000366591:T598I;ENSP00000366588:T634I;ENSP00000440445:T501I	ENSP00000366586:T635I	T	+	2	0	SLC39A12	18332250	0.968000	0.33430	0.832000	0.32986	0.855000	0.48748	5.986000	0.70563	2.609000	0.88269	0.655000	0.94253	ACA		PASS	0.398	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		94	150	94	150	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27703181	27703181	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:27703181G>C	ENST00000438700.3	-	0	116					NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3						spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCACGGCATTGATTCTTCCTC	0.637																																						uc001itu.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(-3-1)ATCAA>ATGAA		patched domain containing 3							31.0	38.0	35.0					10																	27703181		2203	4296	6499			374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27703181G>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.-2C>G	10.37:g.27703181G>C								NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	117	-								I3L499|Q6ZU28	Translation_Start_Site	SNP	ENST00000438700.3	37	c.-1C>G	CCDS31173.1																																																																																				PASS	0.637	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		30	47	30	47	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106849548	106849548	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:106849548G>T	ENST00000369701.3	+	6	1271	c.1044G>T	c.(1042-1044)ttG>ttT	p.L348F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	348					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.L348F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGCCGGATTGGATAAGGAGG	0.587																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1042-1044)TTG>TTT		VPS10 domain receptor protein SORCS 3 precursor							103.0	89.0	94.0					10																	106849548		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106849548G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1044G>T	10.37:g.106849548G>T	ENSP00000358715:p.Leu348Phe						p.L348F	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	6	1271	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	348			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1044G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697109	0.48202	.	.	ENSG00000156395	ENST00000369701	T	0.34472	1.36	6.17	5.27	0.74061	VPS10 (1);	0.078972	0.51477	D	0.000081	T	0.30759	0.0775	L	0.56769	1.78	0.40026	D	0.975478	B	0.32620	0.378	B	0.31290	0.127	T	0.04203	-1.0969	10	0.13108	T	0.6	.	10.4898	0.44744	0.0852:0.0:0.9148:0.0	.	348	Q9UPU3	SORC3_HUMAN	F	348	ENSP00000358715:L348F	ENSP00000358715:L348F	L	+	3	2	SORCS3	106839538	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.350000	0.52224	2.941000	0.99782	0.655000	0.94253	TTG		PASS	0.587	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		31	22	31	22	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118321063	118321063	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:118321063T>C	ENST00000369221.2	+	12	1277	c.1249T>C	c.(1249-1251)Ttt>Ctt	p.F417L		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	417	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.F417L(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GATGGTTAAATTTATTTGGTA	0.368																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1249-1251)TTT>CTT		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						137.0	132.0	134.0					10																	118321063		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118321063T>C	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1249T>C	10.37:g.118321063T>C	ENSP00000358223:p.Phe417Leu						p.F417L	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	12	1292	+			417			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1249T>C	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424056	0.62733	.	.	ENSG00000175535	ENST00000369221	T	0.53423	0.62	5.99	5.99	0.97316	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000001	T	0.69940	0.3167	M	0.91090	3.175	0.54753	D	0.999988	D	0.62365	0.991	P	0.59948	0.866	T	0.72181	-0.4368	10	0.14656	T	0.56	.	15.4718	0.75446	0.0:0.0:0.0:1.0	.	417	P16233	LIPP_HUMAN	L	417	ENSP00000358223:F417L	ENSP00000358223:F417L	F	+	1	0	PNLIP	118311053	1.000000	0.71417	0.983000	0.44433	0.196000	0.23810	3.942000	0.56614	2.296000	0.77279	0.533000	0.62120	TTT		PASS	0.368	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		60	92	60	92	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121662509	121662509	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr10:121662509A>G	ENST00000369075.3	+	3	967	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	SEC23IP_ENST00000543134.1_Missense_Mutation_p.I88V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	299	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I299V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCTTGAAGAAATCTATAATTC	0.358																																						uc001leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(895-897)ATC>GTC		Sec23-interacting protein p125							89.0	82.0	84.0					10																	121662509		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121662509A>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.895A>G	10.37:g.121662509A>G	ENSP00000358071:p.Ile299Val					SEC23IP_uc010qtc.1_Missense_Mutation_p.I88V	p.I299V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	3	967	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	299			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.895A>G	CCDS7618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.65|10.65	1.408551|1.408551	0.25378|0.25378	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561|ENST00000442952	T;T;T|.	0.42131|.	1.58;1.57;0.98|.	5.45|5.45	1.33|1.33	0.21861|0.21861	.|.	0.209739|.	0.49916|.	N|.	0.000121|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.04203|0.04203	-0.255|-0.255	0.26341|0.26341	N|N	0.97736|0.97736	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.28554|0.28554	-1.0040|-1.0040	10|5	0.21014|.	T|.	0.42|.	-7.3394|-7.3394	7.1451|7.1451	0.25579|0.25579	0.4012:0.0:0.5988:0.0|0.4012:0.0:0.5988:0.0	.|.	88;299|.	F5H0L8;Q9Y6Y8|.	.;S23IP_HUMAN|.	V|S	299;88;33|64	ENSP00000358071:I299V;ENSP00000438773:I88V;ENSP00000396906:I33V|.	ENSP00000358071:I299V|.	I|N	+|+	1|2	0|0	SEC23IP|SEC23IP	121652499|121652499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.726000|2.726000	0.47302|0.47302	0.417000|0.417000	0.25871|0.25871	0.533000|0.533000	0.62120|0.62120	ATC|AAT		PASS	0.358	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			32	37	32	37	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	376311	376311	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:376311C>T	ENST00000329962.6	+	13	1257	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	419					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.D419D(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGAAGAAGACGAGGTGCAGC	0.647																																						uc001lpb.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1255-1257)GAC>GAT		beta							74.0	74.0	74.0					11																	376311		2198	4298	6496	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376311C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1257C>T	11.37:g.376311C>T							p.D419D	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1266	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	419			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.1257C>T	CCDS7694.1																																																																																				PASS	0.647	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		4	74	4	74	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5289715	5289715	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:5289715G>A	ENST00000380237.1	-	5	772	c.428C>T	c.(427-429)gCc>gTc	p.A143V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.A143V|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	143				A -> G (in Ref. 5; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A143V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACTTATGGGCCAGGGCAAT	0.552																																						uc001mal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCC>GTC		epsilon globin							131.0	112.0	118.0					11																	5289715		2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289715G>A	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.428C>T	11.37:g.5289715G>A	ENSP00000369586:p.Ala143Val					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A143V	p.A143V	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	681	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	143	A -> G (in Ref. 5; AA sequence).				Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.428C>T	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147963	0.57151	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.93953	-3.32;-3.32	6.06	4.18	0.49190	Globin-like (1);Globin, structural domain (1);	0.243829	0.31949	U	0.006820	D	0.94115	0.8113	M	0.81239	2.535	0.26774	N	0.969739	B	0.20261	0.043	B	0.33846	0.171	D	0.88797	0.3282	10	0.87932	D	0	-7.6149	15.0341	0.71731	0.0:0.2702:0.7298:0.0	.	143	P02100	HBE_HUMAN	V	143	ENSP00000369586:A143V;ENSP00000292896:A143V	ENSP00000292896:A143V	A	-	2	0	HBE1	5246291	1.000000	0.71417	0.988000	0.46212	0.118000	0.20060	2.413000	0.44618	0.879000	0.35944	-0.150000	0.13652	GCC		PASS	0.552	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		41	157	41	157	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5798965	5798965	+	Silent	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:5798965A>T	ENST00000317093.2	-	1	932	c.900T>A	c.(898-900)atT>atA	p.I300I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I300I(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTCCATAAACAATAGGGTTTA	0.423																																						uc010qzn.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(898-900)ATT>ATA		olfactory receptor, family 52, subfamily N,							76.0	71.0	72.0					11																	5798965		2118	4083	6201	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5798965A>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.900T>A	11.37:g.5798965A>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I300I	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	900	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	300			Helical; Name=7; (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.900T>A	CCDS31397.1																																																																																				PASS	0.423	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		84	165	84	165	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17544427	17544427	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:17544427C>T	ENST00000318024.4	-	12	1031	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	USH1C_ENST00000005226.7_Missense_Mutation_p.R308Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R277Q|USH1C_ENST00000527020.1_Missense_Mutation_p.R289Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	308					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R308Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCACGCTGCCGCGCCTCTGC	0.657																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(922-924)CGG>CAG		harmonin isoform a							11.0	13.0	12.0					11																	17544427		2050	4059	6109	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17544427C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.923G>A	11.37:g.17544427C>T	ENSP00000317018:p.Arg308Gln					USH1C_uc001mne.2_Missense_Mutation_p.R308Q|USH1C_uc009yhb.2_Missense_Mutation_p.R289Q|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R272Q	p.R308Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			12	1032	-			308					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.923G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426011	0.62733	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.38077	1.79;1.78;1.98;1.16	5.22	4.31	0.51392	PDZ/DHR/GLGF (1);	0.386039	0.27388	N	0.019592	T	0.23846	0.0577	N	0.24115	0.695	0.26782	N	0.969579	P;P;D	0.60160	0.89;0.824;0.987	B;B;B	0.42738	0.376;0.148;0.396	T	0.09015	-1.0694	10	0.51188	T	0.08	.	7.7362	0.28815	0.0:0.8115:0.0:0.1885	.	289;308;308	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	308;277;289;308	ENSP00000317018:R308Q;ENSP00000432944:R277Q;ENSP00000436934:R289Q;ENSP00000005226:R308Q	ENSP00000005226:R308Q	R	-	2	0	USH1C	17501003	0.997000	0.39634	0.948000	0.38648	0.278000	0.26855	2.665000	0.46791	1.209000	0.43321	0.455000	0.32223	CGG		PASS	0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		2	1	2	1	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19247348	19247348	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:19247348T>C	ENST00000527884.1	-	11	2189	c.1957A>G	c.(1957-1959)Att>Gtt	p.I653V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Missense_Mutation_p.I653V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	653					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I653V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGACAAAATGGACTCTGCC	0.458																																						uc001mpm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1957-1959)ATT>GTT		E2F family member 8							186.0	192.0	190.0					11																	19247348		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247348T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1957A>G	11.37:g.19247348T>C	ENSP00000434199:p.Ile653Val					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I653V	p.I653V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			11	2479	-			653					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1957A>G	CCDS7849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.486|8.486	0.860840|0.860840	0.17178|0.17178	.|.	.|.	ENSG00000129173|ENSG00000129173	ENST00000531809|ENST00000527884;ENST00000396159;ENST00000250024	.|T;T	.|0.17054	.|2.3;2.3	5.8|5.8	2.03|2.03	0.26663|0.26663	.|.	.|0.870451	.|0.10372	.|N	.|0.682636	T|T	0.10252|0.10252	0.0251|0.0251	L|L	0.36672|0.36672	1.1|1.1	0.22127|0.22127	N|N	0.999347|0.999347	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.43426|0.43426	-0.9392|-0.9392	6|10	0.24483|0.02654	T|T	0.36|1	-1.8066|-1.8066	5.0705|5.0705	0.14604|0.14604	0.0:0.2178:0.2674:0.5148|0.0:0.2178:0.2674:0.5148	.|.	.|653	.|A0AVK6	.|E2F8_HUMAN	R|V	352|653	.|ENSP00000434199:I653V;ENSP00000250024:I653V	ENSP00000436434:H352R|ENSP00000250024:I653V	H|I	-|-	2|1	0|0	E2F8|E2F8	19203924|19203924	0.152000|0.152000	0.22762|0.22762	0.978000|0.978000	0.43139|0.43139	0.965000|0.965000	0.64279|0.64279	-0.020000|-0.020000	0.12525|0.12525	0.076000|0.076000	0.16826|0.16826	0.482000|0.482000	0.46254|0.46254	CAT|ATT		PASS	0.458	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		92	326	92	326	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26538428	26538428	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:26538428A>C	ENST00000256737.3	+	6	1498	c.646A>C	c.(646-648)Acg>Ccg	p.T216P	ANO3_ENST00000525139.1_Missense_Mutation_p.T200P|ANO3_ENST00000537978.1_Missense_Mutation_p.T200P|ANO3_ENST00000531568.1_Missense_Mutation_p.T70P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	216					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.T216P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCCATGGGACACGCTGTGCAA	0.358																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(646-648)ACG>CCG		transmembrane protein 16C							88.0	86.0	87.0					11																	26538428		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26538428A>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.646A>C	11.37:g.26538428A>C	ENSP00000256737:p.Thr216Pro					ANO3_uc010rdr.1_Missense_Mutation_p.T200P|ANO3_uc010rds.1_Missense_Mutation_p.T70P|ANO3_uc010rdt.1_Missense_Mutation_p.T70P	p.T216P	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			6	791	+			216			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.646A>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041993	0.75732	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.41	5.41	0.78517	.	0.048936	0.85682	D	0.000000	T	0.68183	0.2973	L	0.52573	1.65	0.58432	D	0.999992	P;P	0.49090	0.919;0.919	P;P	0.52793	0.709;0.709	T	0.71941	-0.4440	10	0.87932	D	0	.	14.7173	0.69280	1.0:0.0:0.0:0.0	.	133;216	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	P	200;200;216;133;70	ENSP00000440737:T200P;ENSP00000432576:T200P;ENSP00000256737:T216P;ENSP00000432394:T70P	ENSP00000256737:T216P	T	+	1	0	ANO3	26495004	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.498000	0.66931	2.186000	0.69663	0.533000	0.62120	ACG		PASS	0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		43	122	43	122	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33667414	33667414	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:33667414G>A	ENST00000321505.4	+	16	4881	c.4701G>A	c.(4699-4701)gcG>gcA	p.A1567A	KIAA1549L_ENST00000389726.3_Silent_p.A1573A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1567						integral component of membrane (GO:0016021)		p.A1567A(1)									TGGCATCCGCGGGCCACGCAG	0.677																																						uc001mup.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(4717-4719)GCG>GCA		hypothetical protein LOC25758							22.0	27.0	25.0					11																	33667414		2108	4217	6325	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33667414G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4701G>A	11.37:g.33667414G>A							p.A1573A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			16	4843	+			1567					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.4719G>A	CCDS44565.2																																																																																				PASS	0.677	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		21	32	21	32	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974139	49974139	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:49974139C>A	ENST00000555099.1	+	1	197	c.165C>A	c.(163-165)tcC>tcA	p.S55S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S55S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CACTGAGATCCCCCATGTACT	0.423																																						uc010rhz.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(163-165)TCC>TCA		olfactory receptor, family 4, subfamily C,							255.0	233.0	240.0					11																	49974139		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974139C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.165C>A	11.37:g.49974139C>A							p.S55S	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	165	+			55			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.165C>A	CCDS31495.1																																																																																				PASS	0.423	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		201	368	201	368	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735597	55735597	+	Missense_Mutation	SNP	C	C	A	rs186468796		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:55735597C>A	ENST00000312345.2	-	1	393	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V115L(1)|p.V115M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CAAATAGCCACGTAGCGGTCA	0.418																																						uc010rit.1																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	skin(2)	2						c.(343-345)GTG>TTG		olfactory receptor, family 10, subfamily AG,							84.0	82.0	83.0					11																	55735597		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735597C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.343G>T	11.37:g.55735597C>A	ENSP00000311477:p.Val115Leu						p.V115L	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	343	-	Esophageal squamous(21;0.0137)		115			Cytoplasmic (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.343G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188803	0.21954	.	.	ENSG00000174970	ENST00000312345	T	0.00932	5.53	5.47	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.129064	0.35378	N	0.003247	T	0.01320	0.0043	M	0.62209	1.925	0.20196	N	0.99993	P	0.36683	0.565	B	0.34590	0.186	T	0.45775	-0.9238	10	0.72032	D	0.01	.	6.3488	0.21365	0.0:0.6855:0.1498:0.1647	.	115	Q8NH19	O10AG_HUMAN	L	115	ENSP00000311477:V115L	ENSP00000311477:V115L	V	-	1	0	OR10AG1	55492173	0.000000	0.05858	0.762000	0.31397	0.014000	0.08584	-0.587000	0.05780	0.719000	0.32188	0.477000	0.44152	GTG		PASS	0.418	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		40	78	40	78	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944287	55944287	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:55944287G>A	ENST00000312298.1	+	1	194	c.194G>A	c.(193-195)tGt>tAt	p.C65Y		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C65Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTACTCAGCTGTCTTTCATTT	0.443																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(193-195)TGT>TAT		olfactory receptor, family 5, subfamily J,							208.0	181.0	190.0					11																	55944287		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944287G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.194G>A	11.37:g.55944287G>A	ENSP00000310788:p.Cys65Tyr						p.C65Y	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	194	+	Esophageal squamous(21;0.00693)		65			Helical; Name=2; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.194G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023452	0.08006	.	.	ENSG00000174957	ENST00000312298	T	0.02944	4.1	4.33	-0.884	0.10597	GPCR, rhodopsin-like superfamily (1);	0.229512	0.30269	N	0.010014	T	0.01905	0.0060	N	0.05534	-0.03	0.09310	N	1	P	0.48834	0.916	P	0.48795	0.59	T	0.48864	-0.8997	10	0.44086	T	0.13	.	3.8473	0.08940	0.3888:0.3979:0.2133:0.0	.	65	Q8NH18	OR5J2_HUMAN	Y	65	ENSP00000310788:C65Y	ENSP00000310788:C65Y	C	+	2	0	OR5J2	55700863	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.493000	0.22451	0.043000	0.15746	0.584000	0.79450	TGT		PASS	0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		65	301	65	301	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944701	55944701	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:55944701C>A	ENST00000312298.1	+	1	608	c.608C>A	c.(607-609)tCc>tAc	p.S203Y		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S203Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTAACCTTCTCCGGAGTCATT	0.463																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(607-609)TCC>TAC		olfactory receptor, family 5, subfamily J,							169.0	130.0	143.0					11																	55944701		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944701C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.608C>A	11.37:g.55944701C>A	ENSP00000310788:p.Ser203Tyr						p.S203Y	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	608	+	Esophageal squamous(21;0.00693)		203			Helical; Name=5; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.608C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391463	0.25118	.	.	ENSG00000174957	ENST00000312298	T	0.39056	1.1	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.68081	0.2962	M	0.90870	3.155	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.63488	-0.6626	10	0.52906	T	0.07	.	10.9815	0.47497	0.0:0.9108:0.0:0.0892	.	203	Q8NH18	OR5J2_HUMAN	Y	203	ENSP00000310788:S203Y	ENSP00000310788:S203Y	S	+	2	0	OR5J2	55701277	0.000000	0.05858	0.057000	0.19452	0.003000	0.03518	-0.050000	0.11904	2.263000	0.75096	0.591000	0.81541	TCC		PASS	0.463	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		25	146	25	146	---	---	---	---
LRTOMT	220074	broad.mit.edu	37	11	71806464	71806464	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:71806464C>T	ENST00000289488.2	+	6	855	c.477C>T	c.(475-477)ttC>ttT	p.F159F	LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.F159F|LRTOMT_ENST00000539587.1_Missense_Mutation_p.S25L|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000440313.2_Intron|LRTOMT_ENST00000539271.1_Missense_Mutation_p.S25L|LRTOMT_ENST00000541614.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000423494.2_Silent_p.F141F|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000447974.1_Intron	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	159	LRRCT.					cytoplasm (GO:0005737)		p.F159F(1)		large_intestine(2)|lung(1)|ovary(1)	4						TCACCACGTTCGACTTCAGTG	0.567																																						uc001orr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)TTC>TTT		leucine rich transmembrane and							101.0	79.0	86.0					11																	71806464		2200	4293	6493	SO:0001819	synonymous_variant	220074					cytoplasm		g.chr11:71806464C>T		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.477C>T	11.37:g.71806464C>T						LRTOMT_uc009ysz.2_RNA|LRTOMT_uc010rqt.1_3'UTR|LRTOMT_uc010rqu.1_Silent_p.F141F|LRTOMT_uc009yta.2_RNA|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron	p.F159F	NM_145309	NP_660352	Q96E66	LRC51_HUMAN			6	855	+			159			LRRCT.		B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Silent	SNP	ENST00000289488.2	37	c.477C>T	CCDS8208.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746369	0.30955	.	.	ENSG00000184154	ENST00000539271;ENST00000539587	.	.	.	5.77	0.272	0.15645	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58989	-0.7538	5	0.87932	D	0	-10.7902	4.8637	0.13598	0.1382:0.5376:0.0:0.3242	.	.	.	.	L	25	.	ENSP00000442267:S25L	S	+	2	0	LRTOMT	71484112	0.798000	0.28890	0.999000	0.59377	0.888000	0.51559	-0.450000	0.06803	0.360000	0.24265	0.609000	0.83330	TCG		PASS	0.567	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309		9	62	9	62	---	---	---	---
CASP4	837	broad.mit.edu	37	11	104825645	104825645	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:104825645C>G	ENST00000444739.2	-	2	1001	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	31	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.E31Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ACATTTTGTTCCACCAAGTTA	0.398																																						uc001pid.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(91-93)GAA>CAA		caspase 4 isoform alpha precursor							151.0	143.0	145.0					11																	104825645		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825645C>G	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.91G>C	11.37:g.104825645C>G	ENSP00000388566:p.Glu31Gln					CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.E31Q|CASP4_uc010ruy.1_Missense_Mutation_p.E31Q	p.E31Q	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	2	164	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	31			CARD.		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.91G>C	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288687	0.23478	.	.	ENSG00000196954	ENST00000444739;ENST00000417440	T;T	0.21734	1.99;1.99	3.6	-1.49	0.08718	DEATH-like (2);Caspase Recruitment (3);	1.363710	0.04804	N	0.434009	T	0.14356	0.0347	N	0.17248	0.465	0.21386	N	0.999701	P;P;B	0.39782	0.573;0.688;0.186	B;B;B	0.42625	0.182;0.393;0.392	T	0.21965	-1.0230	10	0.27785	T	0.31	.	5.9283	0.19124	0.0:0.3842:0.4402:0.1756	.	31;31;31	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	Q	31	ENSP00000388566:E31Q;ENSP00000401673:E31Q	ENSP00000401673:E31Q	E	-	1	0	CASP4	104330855	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.202000	0.09451	-0.425000	0.07371	0.655000	0.94253	GAA		PASS	0.398	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		26	202	26	202	---	---	---	---
ACAT1	38	broad.mit.edu	37	11	108010931	108010931	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:108010931T>A	ENST00000265838.4	+	7	810	c.719T>A	c.(718-720)gTt>gAt	p.V240D		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	240					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.V240D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CCTGTCACAGTTACAGTAAAA	0.343																																						uc001pjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(718-720)GTT>GAT		acetyl-Coenzyme A acetyltransferase 1 precursor	Sulfasalazine(DB00795)						81.0	85.0	84.0					11																	108010931		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108010931T>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.719T>A	11.37:g.108010931T>A	ENSP00000265838:p.Val240Asp					ACAT1_uc001pjx.2_Missense_Mutation_p.V114D	p.V240D	NM_000019	NP_000010	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	7	795	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	240					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.719T>A	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220186	0.79464	.	.	ENSG00000075239	ENST00000265838	D	0.95482	-3.72	5.85	5.85	0.93711	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.523300	0.23091	N	0.052039	D	0.97854	0.9295	M	0.89353	3.025	0.80722	D	1	D	0.63046	0.992	D	0.64144	0.922	D	0.98657	1.0682	10	0.87932	D	0	-12.7462	16.2483	0.82460	0.0:0.0:0.0:1.0	.	240	P24752	THIL_HUMAN	D	240	ENSP00000265838:V240D	ENSP00000265838:V240D	V	+	2	0	ACAT1	107516141	0.986000	0.35501	0.069000	0.20011	0.839000	0.47603	7.687000	0.84139	2.237000	0.73441	0.459000	0.35465	GTT		PASS	0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		49	92	49	92	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119029409	119029409	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:119029409C>T	ENST00000449422.2	+	11	1498	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	ABCG4_ENST00000531739.1_Missense_Mutation_p.A437V|AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000307417.3_Missense_Mutation_p.A437V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	437	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A437V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCATGTTCGCCGCCCTCATG	0.627																																						uc001pvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1309-1311)GCC>GTC		ATP-binding cassette, subfamily G, member 4							107.0	94.0	98.0					11																	119029409		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029409C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1310C>T	11.37:g.119029409C>T	ENSP00000406874:p.Ala437Val					ABCG4_uc009zar.2_Missense_Mutation_p.A437V	p.A437V	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	11	1646	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	437			Helical; Name=2; (Potential).|ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1310C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651180	0.88056	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.71817	-0.6;-0.6;-0.6	5.63	5.63	0.86233	ABC-2 type transporter (1);	0.048832	0.85682	D	0.000000	T	0.71341	0.3328	L	0.52266	1.64	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.71167	-0.4672	10	0.46703	T	0.11	-10.4865	19.266	0.93985	0.0:1.0:0.0:0.0	.	437	Q9H172	ABCG4_HUMAN	V	437	ENSP00000304111:A437V;ENSP00000406874:A437V;ENSP00000434318:A437V	ENSP00000304111:A437V	A	+	2	0	ABCG4	118534619	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.827000	0.62723	2.636000	0.89361	0.655000	0.94253	GCC		PASS	0.627	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		54	92	54	92	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123814097	123814097	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr11:123814097A>G	ENST00000321252.2	-	1	483	c.449T>C	c.(448-450)cTa>cCa	p.L150P		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L150P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAATCCAGCTAGCCAGGAGGC	0.562																																						uc010sab.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)CTA>CCA		olfactory receptor, family 6, subfamily T,							64.0	58.0	60.0					11																	123814097		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814097A>G	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.449T>C	11.37:g.123814097A>G	ENSP00000325203:p.Leu150Pro						p.L150P	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	449	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	150			Helical; Name=4; (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.449T>C	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.649977	0.29336	.	.	ENSG00000181499	ENST00000321252	T	0.45276	0.9	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.62853	0.2462	M	0.88105	2.93	0.09310	N	1	D	0.58970	0.984	P	0.62491	0.903	T	0.56105	-0.8034	9	0.87932	D	0	0.0546	5.7438	0.18108	0.8784:0.0:0.1216:0.0	.	150	Q8NGN1	OR6T1_HUMAN	P	150	ENSP00000325203:L150P	ENSP00000325203:L150P	L	-	2	0	OR6T1	123319307	0.000000	0.05858	0.012000	0.15200	0.592000	0.36648	0.174000	0.16743	1.600000	0.50102	0.460000	0.39030	CTA		PASS	0.562	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		14	38	14	38	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7649613	7649613	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:7649613C>G	ENST00000359156.4	-	5	1097	c.895G>C	c.(895-897)Gat>Cat	p.D299H	CD163_ENST00000432237.2_Missense_Mutation_p.D299H|CD163_ENST00000396620.3_Missense_Mutation_p.D299H|CD163_ENST00000541972.1_Missense_Mutation_p.D287H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	299	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D299H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACAGCAGCATCGTAACTGTCC	0.502																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(895-897)GAT>CAT		CD163 antigen isoform a							195.0	147.0	163.0					12																	7649613		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649613C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.895G>C	12.37:g.7649613C>G	ENSP00000352071:p.Asp299His					CD163_uc001qta.3_Missense_Mutation_p.D299H|CD163_uc009zfw.2_Missense_Mutation_p.D299H	p.D299H	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			5	1023	-			299			SRCR 3.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.895G>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697705	0.48307	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.86	3.96	0.45880	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.400221	0.25590	N	0.029627	T	0.61602	0.2360	M	0.86097	2.795	0.44268	D	0.997126	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.957;0.995	T	0.66131	-0.6000	10	0.62326	D	0.03	.	11.2228	0.48866	0.0:0.9085:0.0:0.0915	.	299;299;299	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	299;287;299;299	ENSP00000352071:D299H;ENSP00000444071:D287H;ENSP00000379863:D299H;ENSP00000403885:D299H	ENSP00000352071:D299H	D	-	1	0	CD163	7540880	0.994000	0.37717	0.634000	0.29324	0.199000	0.23934	3.223000	0.51231	1.185000	0.42971	0.456000	0.33151	GAT		PASS	0.502	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		22	103	22	103	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21205156	21205156	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:21205156A>G	ENST00000421593.2	+	9	1317	c.1317A>G	c.(1315-1317)ctA>ctG	p.L439L	RP11-125O5.2_ENST00000590779.1_5'Flank|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Silent_p.L486L|SLCO1B7_ENST00000554957.1_Silent_p.L486L	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	439	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L439L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CACCTTGTCTAGCAGGATGCA	0.363																																						uc010sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)CTA>CTG		liver-specific organic anion transporter 3TM12							157.0	162.0	160.0					12																	21205156		2203	4300	6503	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21205156A>G	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1317A>G	12.37:g.21205156A>G						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.L486L	p.L439L	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			9	1317	+			439					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1317A>G	CCDS44843.1																																																																																				PASS	0.363	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		26	183	26	183	---	---	---	---
C12orf77	196415	broad.mit.edu	37	12	25147249	25147249	+	Silent	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:25147249A>T	ENST00000549828.1	-	4	624	c.420T>A	c.(418-420)gcT>gcA	p.A140A		NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	140								p.A140A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AAATTGTCATAGCATGATGTA	0.358																																						uc001rgf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)GCT>GCA		hypothetical protein LOC196415							76.0	67.0	70.0					12																	25147249		1814	4068	5882	SO:0001819	synonymous_variant	196415							g.chr12:25147249A>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.420T>A	12.37:g.25147249A>T							p.A140A	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			4	625	-			140						Silent	SNP	ENST00000549828.1	37	c.420T>A	CCDS44846.1																																																																																				PASS	0.358	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		7	18	7	18	---	---	---	---
MIP	4284	broad.mit.edu	37	12	56848169	56848169	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:56848169C>A	ENST00000257979.4	-	1	257	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	77					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.V77L(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGGGAGCCCACAAGGAAAGCA	0.602																																						uc001slh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(229-231)GTG>TTG		major intrinsic protein of lens fiber							55.0	55.0	55.0					12																	56848169		2203	4300	6503	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848169C>A		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.229G>T	12.37:g.56848169C>A	ENSP00000257979:p.Val77Leu						p.V77L	NM_012064	NP_036196	P30301	MIP_HUMAN			1	261	-			77					Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.229G>T	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708982	0.30322	.	.	ENSG00000135517	ENST00000257979	D	0.86097	-2.07	5.18	4.22	0.49857	Aquaporin-like (2);	0.270206	0.37393	N	0.002101	T	0.66005	0.2746	N	0.10945	0.07	0.44890	D	0.997909	B	0.02656	0.0	B	0.12837	0.008	T	0.59354	-0.7470	10	0.08599	T	0.76	-11.855	7.3102	0.26471	0.0:0.6399:0.2698:0.0903	.	77	P30301	MIP_HUMAN	L	77	ENSP00000257979:V77L	ENSP00000257979:V77L	V	-	1	0	MIP	55134436	0.002000	0.14202	1.000000	0.80357	0.998000	0.95712	0.002000	0.13061	2.588000	0.87417	0.561000	0.74099	GTG		PASS	0.602	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		22	99	22	99	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400260	78400260	+	Silent	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:78400260T>A	ENST00000397909.2	+	8	1115	c.942T>A	c.(940-942)acT>acA	p.T314T	NAV3_ENST00000536525.2_Silent_p.T314T|NAV3_ENST00000266692.7_Silent_p.T314T|NAV3_ENST00000228327.6_Silent_p.T314T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	314						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T314T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCCCAGTACTGCTGGGCAGC	0.507										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(940-942)ACT>ACA		neuron navigator 3							53.0	57.0	56.0					12																	78400260		2065	4201	6266	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400260T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.942T>A	12.37:g.78400260T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.T314T	p.T314T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1115	+			314					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.942T>A		.	.	.	.	.	.	.	.	.	.	T	3.602	-0.081387	0.07141	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.61	-1.51	0.08664	.	.	.	.	.	T	0.39784	0.1091	.	.	.	0.37921	D	0.931686	.	.	.	.	.	.	T	0.33189	-0.9878	4	.	.	.	-0.9677	2.0057	0.03477	0.1737:0.4299:0.1763:0.2202	.	.	.	.	S	138	.	.	C	+	1	0	NAV3	76924391	0.002000	0.14202	0.056000	0.19401	0.404000	0.30871	-0.142000	0.10311	-0.183000	0.10585	0.459000	0.35465	TGC		PASS	0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		16	76	16	76	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88502955	88502955	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:88502955G>T	ENST00000552810.1	-	23	2714	c.2371C>A	c.(2371-2373)Cta>Ata	p.L791I	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.L793I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	791					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.L793I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTATTTTCTAGTTCCTGAAAA	0.249																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(2371-2373)CTA>ATA		centrosomal protein 290kDa							15.0	14.0	14.0					12																	88502955		1743	3950	5693	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88502955G>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2371C>A	12.37:g.88502955G>T	ENSP00000448012:p.Leu791Ile					CEP290_uc001tat.2_Missense_Mutation_p.L584I	p.L791I	NM_025114	NP_079390	O15078	CE290_HUMAN			23	2715	-			791			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.2371C>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960136	0.18507	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.21932	1.98;1.98	5.07	3.19	0.36642	.	0.174502	0.38959	N	0.001511	T	0.12944	0.0314	L	0.31926	0.97	0.80722	D	1	B;B	0.15141	0.001;0.012	B;B	0.14023	0.007;0.01	T	0.13098	-1.0522	10	0.21540	T	0.41	.	5.2668	0.15603	0.0772:0.13:0.6303:0.1626	.	791;791	Q05BJ6;O15078	.;CE290_HUMAN	I	791;793;791	ENSP00000448012:L791I;ENSP00000308021:L793I	ENSP00000308021:L793I	L	-	1	2	CEP290	87027086	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.036000	0.41165	0.585000	0.29608	0.655000	0.94253	CTA		PASS	0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	14	3	14	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94613888	94613888	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:94613888C>A	ENST00000258526.4	+	6	1900	c.1651C>A	c.(1651-1653)Cag>Aag	p.Q551K		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	551					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.Q551K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAATAAAAGTCAGCCCAACCG	0.448																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1651-1653)CAG>AAG		plexin C1 precursor							152.0	160.0	157.0					12																	94613888		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94613888C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1651C>A	12.37:g.94613888C>A	ENSP00000258526:p.Gln551Lys						p.Q551K	NM_005761	NP_005752	O60486	PLXC1_HUMAN			6	1900	+			551			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1651C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571483	0.03882	.	.	ENSG00000136040	ENST00000258526	T	0.06528	3.29	4.55	1.63	0.23807	.	3.063980	0.01299	N	0.010245	T	0.07413	0.0187	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38757	-0.9646	10	0.29301	T	0.29	.	7.8383	0.29382	0.1651:0.469:0.3659:0.0	.	551	O60486	PLXC1_HUMAN	K	551	ENSP00000258526:Q551K	ENSP00000258526:Q551K	Q	+	1	0	PLXNC1	93138019	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.778000	0.26732	0.237000	0.21200	0.650000	0.86243	CAG		PASS	0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			89	178	89	178	---	---	---	---
AMDHD1	144193	broad.mit.edu	37	12	96359501	96359501	+	Missense_Mutation	SNP	G	G	A	rs201536890	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:96359501G>A	ENST00000266736.2	+	7	1082	c.976G>A	c.(976-978)Gga>Aga	p.G326R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	326					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.G326R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GTTAGATGAAGGAGTAATAGT	0.388													G|||	8	0.00159744	0.0	0.0	5008	,	,		17417	0.0		0.001	False		,,,				2504	0.0072					uc001tel.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(976-978)GGA>AGA		amidohydrolase domain containing 1		G	ARG/GLY	0,4406		0,0,2203	150.0	133.0	139.0		976	6.1	1.0	12		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	AMDHD1	NM_152435.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	326/427	96359501	1,13005	2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359501G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.976G>A	12.37:g.96359501G>A	ENSP00000266736:p.Gly326Arg					AMDHD1_uc009zth.1_Missense_Mutation_p.G217R	p.G326R	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			7	1082	+			326					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.976G>A	CCDS9057.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.8	5.040328	0.93630	0.0	1.16E-4	ENSG00000139344	ENST00000266736	T	0.73258	-0.73	6.06	6.06	0.98353	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89033	0.3443	10	0.59425	D	0.04	1.052	20.6208	0.99490	0.0:0.0:1.0:0.0	.	326	Q96NU7	HUTI_HUMAN	R	326	ENSP00000266736:G326R	ENSP00000266736:G326R	G	+	1	0	AMDHD1	94883632	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	9.074000	0.93998	2.882000	0.98803	0.655000	0.94253	GGA		PASS	0.388	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		50	90	50	90	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102471234	102471234	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:102471234C>A	ENST00000552283.1	-	7	727	c.588G>T	c.(586-588)ttG>ttT	p.L196F	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.L196F|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	196					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.L196F(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CCTGTTGGGCCAAAAGATCAT	0.378																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)TTG>TTT		nucleoporin 37kDa							136.0	141.0	139.0					12																	102471234		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471234C>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.588G>T	12.37:g.102471234C>A	ENSP00000448054:p.Leu196Phe					NUP37_uc009zub.1_Missense_Mutation_p.L196F	p.L196F	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			6	653	-			196			WD 3.		Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.588G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	3.749	-0.051938	0.07362	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.29397	1.57;1.57	6.02	1.87	0.25490	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.145380	0.06184	N	0.680044	T	0.21801	0.0525	L	0.29908	0.895	0.09310	N	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.30001	-0.9993	10	0.54805	T	0.06	0.2807	3.1468	0.06474	0.2802:0.4732:0.0842:0.1624	.	196	Q8NFH4	NUP37_HUMAN	F	196	ENSP00000448054:L196F;ENSP00000251074:L196F	ENSP00000251074:L196F	L	-	3	2	NUP37	100995364	0.997000	0.39634	0.022000	0.16811	0.978000	0.69477	1.010000	0.29898	0.119000	0.18210	-0.150000	0.13652	TTG		PASS	0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		54	114	54	114	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112667515	112667515	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:112667515C>T	ENST00000430131.2	-	40	6385	c.5240G>A	c.(5239-5241)gGa>gAa	p.G1747E	HECTD4_ENST00000550722.1_Missense_Mutation_p.G2023E|HECTD4_ENST00000377560.5_Missense_Mutation_p.G1997E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1747					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G1997E(1)|p.G1747E(1)									AACCTCGGATCCTATCTTGAT	0.453																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(5239-5241)GGA>GAA		chromosome 12 open reading frame 51							189.0	189.0	189.0					12																	112667515		1937	4123	6060	SO:0001583	missense	283450							g.chr12:112667515C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5240G>A	12.37:g.112667515C>T	ENSP00000404379:p.Gly1747Glu					C12orf51_uc001ttr.1_5'Flank	p.G1747E	NM_001109662	NP_001103132					34	5258	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5240G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.404388	0.96051	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.67523	-0.26;-0.24;-0.27	5.96	5.96	0.96718	.	.	.	.	.	T	0.73776	0.3630	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76713	-0.2858	9	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1747	Q9Y4D8	K0614_HUMAN	E	1997;1747;2023	ENSP00000366783:G1997E;ENSP00000404379:G1747E;ENSP00000449784:G2023E	ENSP00000366783:G1997E	G	-	2	0	C12orf51	111151898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.251000	0.78297	2.831000	0.97527	0.650000	0.86243	GGA		PASS	0.453	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		55	271	55	271	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119563223	119563223	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:119563223C>A	ENST00000267260.4	+	7	941	c.553C>A	c.(553-555)Cat>Aat	p.H185N	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	185	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.H185N(2)|p.H282N(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGCCACCGCCATCACCGCTG	0.612																																						uc001txa.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(553-555)CAT>AAT		KIAA1853 protein							39.0	51.0	47.0					12																	119563223		2013	4169	6182	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119563223C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.553C>A	12.37:g.119563223C>A	ENSP00000267260:p.His185Asn						p.H185N	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			7	845	+			185			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.553C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469287	0.63625	.	.	ENSG00000139767	ENST00000267260	T	0.23552	1.9	5.66	5.66	0.87406	.	0.160304	0.37761	N	0.001943	T	0.30355	0.0762	L	0.59436	1.845	0.25225	N	0.989873	B	0.33238	0.403	B	0.36289	0.221	T	0.21143	-1.0254	10	0.41790	T	0.15	-3.6843	15.2504	0.73539	0.0:1.0:0.0:0.0	.	185	A7MD48	SRRM4_HUMAN	N	185	ENSP00000267260:H185N	ENSP00000267260:H185N	H	+	1	0	SRRM4	118047606	0.297000	0.24408	0.719000	0.30619	0.942000	0.58702	2.620000	0.46410	2.648000	0.89879	0.655000	0.94253	CAT		PASS	0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		18	17	18	17	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120588997	120588997	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr12:120588997C>T	ENST00000300648.6	-	34	4273	c.4261G>A	c.(4261-4263)Gca>Aca	p.A1421T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1421					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.A1421T(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGTCAGTGCCGCCATCATC	0.612																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4261-4263)GCA>ACA		GCN1 general control of amino-acid synthesis							65.0	72.0	70.0					12																	120588997		2141	4223	6364	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120588997C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4261G>A	12.37:g.120588997C>T	ENSP00000300648:p.Ala1421Thr						p.A1421T	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			34	4274	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1421					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4261G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195815	0.22037	.	.	ENSG00000089154	ENST00000300648	T	0.65364	-0.15	5.28	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.049700	0.85682	D	0.000000	T	0.22475	0.0542	N	0.01048	-1.04	0.42502	D	0.992931	B	0.02656	0.0	B	0.04013	0.001	T	0.38735	-0.9647	10	0.06236	T	0.91	.	3.4284	0.07420	0.0:0.6234:0.0:0.3766	.	1421	Q92616	GCN1L_HUMAN	T	1421	ENSP00000300648:A1421T	ENSP00000300648:A1421T	A	-	1	0	GCN1L1	119073380	1.000000	0.71417	0.958000	0.39756	0.994000	0.84299	3.830000	0.55768	2.490000	0.84030	0.561000	0.74099	GCA		PASS	0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	78	4	78	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60686259	60686259	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:60686259T>G	ENST00000400324.4	-	3	495	c.275A>C	c.(274-276)aAc>aCc	p.N92T	DIAPH3_ENST00000377908.2_Missense_Mutation_p.N81T|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N81T|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.N92T|DIAPH3_ENST00000400330.1_Missense_Mutation_p.N92T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	92					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N92T(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCTTCAGGTTGGGAAGTGG	0.433																																						uc001vht.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)AAC>ACC		diaphanous homolog 3 isoform a							211.0	195.0	200.0					13																	60686259		1853	4120	5973	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686259T>G	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.275A>C	13.37:g.60686259T>G	ENSP00000383178:p.Asn92Thr					DIAPH3_uc001vhw.1_Missense_Mutation_p.N81T|DIAPH3_uc010aed.1_Missense_Mutation_p.N81T|DIAPH3_uc010aee.1_Intron	p.N92T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	494	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	92					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.275A>C	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175533	0.38413	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;D;T	0.82081	-1.45;-1.45;-1.46;-1.57;-1.44	5.82	2.09	0.27110	.	1.406850	0.04477	N	0.377148	T	0.75561	0.3866	L	0.43152	1.355	0.23473	N	0.997603	P;B;B	0.40144	0.704;0.391;0.009	B;B;B	0.29942	0.109;0.086;0.009	T	0.62364	-0.6870	10	0.52906	T	0.07	.	8.863	0.35269	0.0:0.2184:0.0:0.7816	.	81;81;92	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	T	92;92;81;81;81;81;92;92	ENSP00000383178:N92T;ENSP00000383184:N92T;ENSP00000367141:N81T;ENSP00000383174:N81T;ENSP00000267215:N92T	ENSP00000267215:N92T	N	-	2	0	DIAPH3	59584260	0.955000	0.32602	0.394000	0.26270	0.900000	0.52787	3.080000	0.50112	0.142000	0.18901	0.533000	0.62120	AAC		PASS	0.433	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		137	285	137	285	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73357625	73357625	+	Silent	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:73357625A>G	ENST00000326291.6	+	2	356	c.18A>G	c.(16-18)tcA>tcG	p.S6S	DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000475871.1_5'Flank|DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377780.4_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	6						centrosome (GO:0005813)		p.S6S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GAAAAATTTCAAAGGAGTCAA	0.284																																						uc001vjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(16-18)TCA>TCG		progesterone-induced blocking factor 1							48.0	52.0	51.0					13																	73357625		2203	4299	6502	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73357625A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.18A>G	13.37:g.73357625A>G						PIBF1_uc001vja.1_Silent_p.S6S|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.S6S|PIBF1_uc010aep.2_Intron|DIS3_uc001viy.3_5'Flank|DIS3_uc001vix.3_5'Flank|DIS3_uc001viz.2_5'Flank	p.S6S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	2	323	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	6					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.18A>G	CCDS31991.1																																																																																				PASS	0.284	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		36	95	36	95	---	---	---	---
KLF12	11278	broad.mit.edu	37	13	74420351	74420351	+	Missense_Mutation	SNP	C	C	G	rs531869423	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:74420351C>G	ENST00000377669.2	-	3	309	c.283G>C	c.(283-285)Gcc>Ccc	p.A95P	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.A95P	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	95					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A95P(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATGAAACGGCAGTAGGGGAC	0.512																																						uc001vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GCC>CCC		Kruppel-like factor 12							176.0	131.0	146.0					13																	74420351		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420351C>G	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.283G>C	13.37:g.74420351C>G	ENSP00000366897:p.Ala95Pro					KLF12_uc010aeq.2_Missense_Mutation_p.A95P|KLF12_uc001vjg.3_Missense_Mutation_p.A95P	p.A95P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	505	-		Prostate(6;0.00217)|Breast(118;0.0838)	95					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.283G>C	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735073	0.48939	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01474	4.85;4.85	6.02	6.02	0.97574	.	0.075144	0.56097	D	0.000032	T	0.01765	0.0056	N	0.10809	0.05	0.53688	D	0.999979	B	0.29909	0.261	B	0.28784	0.094	T	0.70396	-0.4883	10	0.36615	T	0.2	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	95	Q9Y4X4	KLF12_HUMAN	P	95	ENSP00000366897:A95P;ENSP00000366894:A95P	ENSP00000344057:A95P	A	-	1	0	KLF12	73318352	0.993000	0.37304	0.993000	0.49108	0.794000	0.44872	2.799000	0.47892	2.865000	0.98341	0.655000	0.94253	GCC		PASS	0.512	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		19	113	19	113	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92380805	92380805	+	Missense_Mutation	SNP	G	G	T	rs372530892		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:92380805G>T	ENST00000377067.3	+	4	1412	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R347L(2)|p.R347H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTTGTGGCCGCCCTGTAAGA	0.418																																						uc010tif.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1039-1041)CGC>CTC		glypican 5 precursor							110.0	113.0	112.0					13																	92380805		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380805G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1040G>T	13.37:g.92380805G>T	ENSP00000366267:p.Arg347Leu						p.R347L	NM_004466	NP_004457	P78333	GPC5_HUMAN			4	1406	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	347					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1040G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600434	0.28534	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.88	-6.19	0.02078	.	0.766929	0.12691	N	0.447174	T	0.22244	0.0536	N	0.17082	0.46	0.18873	N	0.999986	B	0.02656	0.0	B	0.12156	0.007	T	0.11131	-1.0600	10	0.34782	T	0.22	-8.6529	4.9072	0.13804	0.622:0.1319:0.1513:0.0947	.	347	P78333	GPC5_HUMAN	L	347	ENSP00000366267:R347L	ENSP00000366267:R347L	R	+	2	0	GPC5	91178806	0.020000	0.18652	0.744000	0.31058	0.664000	0.39144	-0.447000	0.06828	-0.706000	0.05028	0.557000	0.71058	CGC		PASS	0.418	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		33	155	33	155	---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98642449	98642449	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:98642449G>T	ENST00000490680.1	+	5	602	c.537G>T	c.(535-537)caG>caT	p.Q179H	IPO5_ENST00000261574.5_Missense_Mutation_p.Q197H|IPO5_ENST00000539640.1_Intron			O00410	IPO5_HUMAN	importin 5	179					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.Q197H(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGTTAGTTCAGTGTATGCAAG	0.308																																						uc001vnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(535-537)CAG>CAT		importin 5							52.0	52.0	52.0					13																	98642449		2202	4300	6502	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98642449G>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.537G>T	13.37:g.98642449G>T	ENSP00000418393:p.Gln179His					IPO5_uc001vne.2_Missense_Mutation_p.Q197H|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.Q119H	p.Q179H	NM_002271	NP_002262	O00410	IPO5_HUMAN			5	602	+			179					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.537G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.051187|4.051187	0.75960|0.75960	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000403772;ENST00000473582|ENST00000469360	T;T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44;3.44|.	5.61|5.61	2.94|2.94	0.34122|0.34122	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72277|0.72277	0.3440|0.3440	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.74023|.	0.96;0.982|.	T|T	0.70128|0.70128	-0.4957|-0.4957	10|5	0.72032|.	D|.	0.01|.	-22.8398|-22.8398	10.5832|10.5832	0.45267|0.45267	0.268:0.0:0.732:0.0|0.268:0.0:0.732:0.0	.|.	179;197|.	O00410;O00410-3|.	IPO5_HUMAN;.|.	H|I	197;179;179;150;160|181	ENSP00000261574:Q197H;ENSP00000350219:Q179H;ENSP00000418393:Q179H;ENSP00000385938:Q150H;ENSP00000420491:Q160H|.	ENSP00000261574:Q197H|.	Q|S	+|+	3|2	2|0	IPO5|IPO5	97440450|97440450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.747000|2.747000	0.47475|0.47475	0.307000|0.307000	0.22880|0.22880	0.650000|0.650000	0.86243|0.86243	CAG|AGT		PASS	0.308	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		24	71	24	71	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101997647	101997647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:101997647C>A	ENST00000251127.6	-	7	850	c.769G>T	c.(769-771)Gag>Tag	p.E257*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.E257*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	257					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E257*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCCAGCTCTTGCCTGCTA	0.418																																						uc001vox.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(769-771)GAG>TAG		voltage gated channel like 1							172.0	160.0	164.0					13																	101997647		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997647C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.769G>T	13.37:g.101997647C>A	ENSP00000251127:p.Glu257*					NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Nonsense_Mutation_p.E257*|NALCN_uc001vpa.2_Nonsense_Mutation_p.E257*	p.E257*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	958	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		257			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.769G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	39	7.747278	0.98468	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	257	.	ENSP00000251127:E257X	E	-	1	0	NALCN	100795648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GAG		PASS	0.418	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		49	248	49	248	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101997649	101997649	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr13:101997649T>G	ENST00000251127.6	-	7	848	c.767A>C	c.(766-768)cAa>cCa	p.Q256P	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.Q256P	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	256					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.Q256P(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCCAGCTCTTGCCTGCTAAG	0.428																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(766-768)CAA>CCA		voltage gated channel like 1							172.0	161.0	165.0					13																	101997649		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997649T>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.767A>C	13.37:g.101997649T>G	ENSP00000251127:p.Gln256Pro					NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.Q256P|NALCN_uc001vpa.2_Missense_Mutation_p.Q256P	p.Q256P	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	956	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		256			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.767A>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577009	0.65878	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98150	-4.75;-4.75	5.9	4.7	0.59300	Ion transport (1);	0.115998	0.64402	D	0.000006	D	0.96266	0.8782	N	0.20610	0.595	0.80722	D	1	D;P	0.55172	0.97;0.919	P;P	0.56751	0.805;0.73	D	0.95319	0.8419	10	0.38643	T	0.18	.	13.268	0.60146	0.0:0.0:0.1324:0.8676	.	256;256	F2Z323;Q8IZF0	.;NALCN_HUMAN	P	256	ENSP00000251127:Q256P;ENSP00000365367:Q256P	ENSP00000251127:Q256P	Q	-	2	0	NALCN	100795650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.026000	0.39733	0.528000	0.53228	CAA		PASS	0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		49	247	49	247	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	59014620	59014620	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:59014620C>A	ENST00000556134.1	+	32	4846	c.4572C>A	c.(4570-4572)gaC>gaA	p.D1524E	KIAA0586_ENST00000261244.5_Missense_Mutation_p.D1463E|KIAA0586_ENST00000354386.6_Missense_Mutation_p.H1621N|KIAA0586_ENST00000423743.3_Missense_Mutation_p.D1495E	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1524					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.D1463E(1)|p.H1621N(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCAGGAGGACATGGAGTCTT	0.522																																						uc001xdv.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4387-4389)GAC>GAA		talpid3 protein							89.0	92.0	91.0					14																	59014620		2015	4190	6205	SO:0001583	missense	9786							g.chr14:59014620C>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4572C>A	14.37:g.59014620C>A	ENSP00000452351:p.Asp1524Glu					KIAA0586_uc010trr.1_Missense_Mutation_p.H1609N|KIAA0586_uc001xdt.3_Missense_Mutation_p.D1495E|KIAA0586_uc001xdu.3_Missense_Mutation_p.D1524E|KIAA0586_uc010trs.1_Missense_Mutation_p.D1454E	p.D1463E	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			30	4662	+			1463					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.4389C>A	CCDS58321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.319291|3.319291	0.60524|0.60524	.|.	.|.	ENSG00000100578|ENSG00000100578	ENST00000556134;ENST00000423743;ENST00000261244;ENST00000555397|ENST00000354386	T;T;T|T	0.50001|0.45276	0.77;0.76;0.76|0.9	5.93|5.93	1.54|1.54	0.23209|0.23209	.|.	0.188812|.	0.36167|.	N|.	0.002747|.	T|T	0.31263|0.31263	0.0791|0.0791	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D|B	0.55385|0.26258	0.971;0.971;0.971|0.145	P;P;P|B	0.55749|0.26969	0.654;0.783;0.654|0.075	T|T	0.30387|0.30387	-0.9980|-0.9980	9|8	0.54805|0.87932	T|D	0.06|0	.|.	6.4316|6.4316	0.21801|0.21801	0.0:0.5112:0.0:0.4888|0.0:0.5112:0.0:0.4888	.|.	1463;1524;1495|1621	E9PGW8;Q9BVV6;Q6UV20|E7EWM8	.;K0586_HUMAN;.|.	E|N	1524;1495;1463;199|1621	ENSP00000452351:D1524E;ENSP00000399427:D1495E;ENSP00000261244:D1463E|ENSP00000346359:H1621N	ENSP00000261244:D1463E|ENSP00000346359:H1621N	D|H	+|+	3|1	2|0	KIAA0586|KIAA0586	58084373|58084373	0.014000|0.014000	0.17966|0.17966	0.004000|0.004000	0.12327|0.12327	0.023000|0.023000	0.10783|0.10783	0.328000|0.328000	0.19681|0.19681	0.397000|0.397000	0.25310|0.25310	0.555000|0.555000	0.69702|0.69702	GAC|CAT		PASS	0.522	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		37	68	37	68	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70420249	70420249	+	Splice_Site	SNP	G	G	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:70420249G>C	ENST00000381280.4	+	3	631	c.378G>C	c.(376-378)caG>caC	p.Q126H	SMOC1_ENST00000361956.3_Splice_Site_p.Q126H	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	126	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.Q126H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCTTTACCCAGGTGAGGCCTC	0.622																																						uc001xls.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(376-378)CAG>CAC		secreted modular calcium-binding protein 1							98.0	88.0	92.0					14																	70420249		2203	4300	6503	SO:0001630	splice_region_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70420249G>C	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.378+1G>C	14.37:g.70420249G>C						SMOC1_uc001xlt.1_Missense_Mutation_p.Q126H	p.Q126H	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	631	+			126			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.378G>C	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858455	0.71834	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.63744	-0.06;-0.06	5.36	5.36	0.76844	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.68952	2.095	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.68192	0.956;0.925	T	0.75525	-0.3287	10	0.59425	D	0.04	-18.6508	9.7348	0.40382	0.154:0.0:0.846:0.0	.	126;126	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	H	126	ENSP00000355110:Q126H;ENSP00000370680:Q126H	ENSP00000355110:Q126H	Q	+	3	2	SMOC1	69490002	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.153000	0.64888	2.484000	0.83849	0.591000	0.81541	CAG		PASS	0.622	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		Missense_Mutation	37	56	37	56	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088872	86088872	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:86088872G>T	ENST00000330753.4	+	2	1781	c.1014G>T	c.(1012-1014)atG>atT	p.M338I	FLRT2_ENST00000554746.1_Missense_Mutation_p.M338I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	338	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.M338I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGTTTCATGTGCCAAGGTC	0.507																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1012-1014)ATG>ATT		fibronectin leucine rich transmembrane protein 2							126.0	136.0	133.0					14																	86088872		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088872G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1014G>T	14.37:g.86088872G>T	ENSP00000332879:p.Met338Ile					FLRT2_uc010atd.2_Missense_Mutation_p.M338I	p.M338I	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1781	+			338			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1014G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565828	0.27915	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02280	4.36;4.36	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.039523	0.85682	D	0.000000	T	0.02193	0.0068	N	0.16016	0.355	0.40682	D	0.982318	B	0.15930	0.015	B	0.09377	0.004	T	0.60089	-0.7331	10	0.11794	T	0.64	-30.961	20.6439	0.99570	0.0:0.0:1.0:0.0	.	338	O43155	FLRT2_HUMAN	I	338	ENSP00000332879:M338I;ENSP00000451050:M338I	ENSP00000332879:M338I	M	+	3	0	FLRT2	85158625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.676000	0.61627	2.884000	0.98904	0.655000	0.94253	ATG		PASS	0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			126	182	126	182	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397627	93397627	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:93397627A>G	ENST00000216492.5	+	6	668	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	130					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.M130V(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAAGGATGTTATGGAGAAAAG	0.612																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(388-390)ATG>GTG		chromogranin A precursor							38.0	46.0	43.0					14																	93397627		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397627A>G		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.388A>G	14.37:g.93397627A>G	ENSP00000216492:p.Met130Val					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron	p.M130V	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	648	+		all_cancers(154;0.0843)	130					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.388A>G	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.687398	0.00738	.	.	ENSG00000100604	ENST00000216492	T	0.01572	4.76	3.96	-0.403	0.12400	.	2.030730	0.02029	N	0.048379	T	0.00906	0.0030	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	10	0.23891	T	0.37	-0.0984	6.9265	0.24418	0.4261:0.0:0.5739:0.0	.	130	P10645	CMGA_HUMAN	V	130	ENSP00000216492:M130V	ENSP00000216492:M130V	M	+	1	0	CHGA	92467380	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.504000	0.06375	-0.145000	0.11294	-0.337000	0.08149	ATG		PASS	0.612	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		17	16	17	16	---	---	---	---
TCL6	27004	broad.mit.edu	37	14	96137674	96137674	+	RNA	SNP	C	C	G	rs556480912		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:96137674C>G	ENST00000467865.1	+	0	2031				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)									p.T76R(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ctagaaaggacgtggatgaag	0.478			T	TRA@	T-ALL																																	uc001yeq.2				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		1	Substitution - Missense(1)		lung(1)		0						c.(400-402)ACG>AGG		SubName: Full=T-cell leukemia/lymphoma 6 ORF163;							50.0	46.0	48.0					14																	96137674		2203	4300	6503			27004							g.chr14:96137674C>G	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96137674C>G						TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.T76R|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL6_uc010avk.1_RNA	p.T134R	NM_020554	NP_065579				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	7	1870	+		all_cancers(154;0.103)							Missense_Mutation	SNP	ENST00000467865.1	37	c.401C>G																																																																																					PASS	0.478	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		17	39	17	39	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102476340	102476340	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr14:102476340G>T	ENST00000360184.4	+	30	6302	c.6138G>T	c.(6136-6138)cgG>cgT	p.R2046R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2046	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R2046R(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCCCGACCGGCAGTTAATCG	0.522																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6136-6138)CGG>CGT		cytoplasmic dynein 1 heavy chain 1							54.0	54.0	54.0					14																	102476340		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476340G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6138G>T	14.37:g.102476340G>T							p.R2046R	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			30	6302	+			2046			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.6138G>T	CCDS9966.1																																																																																				PASS	0.522	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		51	80	51	80	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22368874	22368874	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:22368874A>T	ENST00000332663.2	+	1	397	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100L(1)		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)		TGCATTGCACAGCTCTTCTTC	0.463																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)CAG>CTG		olfactory receptor, family 4, subfamily M,							313.0	262.0	279.0					15																	22368874		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368874A>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.299A>T	15.37:g.22368874A>T	ENSP00000329467:p.Gln100Leu					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.Q100L	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	299	+		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)	100			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.299A>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.557451	0.45590	.	.	ENSG00000182974	ENST00000332663	T	0.00470	7.2	2.5	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000443	T	0.02156	0.0067	H	0.98133	4.155	0.25849	N	0.983963	D	0.89917	1.0	D	0.87578	0.998	T	0.24728	-1.0152	10	0.87932	D	0	-6.6643	6.688	0.23156	0.7573:0.2427:0.0:0.0	.	100	Q8NGB6	OR4M2_HUMAN	L	100	ENSP00000329467:Q100L	ENSP00000329467:Q100L	Q	+	2	0	OR4M2	19870238	1.000000	0.71417	0.994000	0.49952	0.814000	0.46013	5.841000	0.69409	0.183000	0.20059	0.368000	0.22195	CAG		PASS	0.463	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			67	493	67	493	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41289779	41289779	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:41289779A>C	ENST00000361937.3	-	29	3942	c.3518T>G	c.(3517-3519)cTg>cGg	p.L1173R	INO80_ENST00000401393.3_Missense_Mutation_p.L1173R|RP11-540O11.6_ENST00000561388.1_RNA|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1173	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L1173R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGTGCTTAACAGGAACACAAA	0.393																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3517-3519)CTG>CGG		INO80 complex homolog 1							125.0	109.0	115.0					15																	41289779		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41289779A>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3518T>G	15.37:g.41289779A>C	ENSP00000355205:p.Leu1173Arg					INO80_uc010ucu.1_RNA	p.L1173R	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			29	3731	-			1173			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3518T>G	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.000730	0.93227	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.86097	-2.07;-2.07	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.95544	0.8552	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97388	0.9987	10	0.87932	D	0	.	15.3428	0.74311	1.0:0.0:0.0:0.0	.	1173	Q9ULG1	INO80_HUMAN	R	1173	ENSP00000355205:L1173R;ENSP00000384686:L1173R	ENSP00000355205:L1173R	L	-	2	0	INO80	39077071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.040000	0.93783	2.008000	0.58898	0.533000	0.62120	CTG		PASS	0.393	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		53	115	53	115	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41352108	41352108	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:41352108C>A	ENST00000361937.3	-	15	2223	c.1799G>T	c.(1798-1800)gGa>gTa	p.G600V	INO80_ENST00000401393.3_Missense_Mutation_p.G600V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	600	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.G600V(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGAGGATTTCCCCAATATGG	0.328																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1798-1800)GGA>GTA		INO80 complex homolog 1							117.0	108.0	111.0					15																	41352108		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41352108C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1799G>T	15.37:g.41352108C>A	ENSP00000355205:p.Gly600Val					INO80_uc010ucu.1_RNA	p.G600V	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			15	2012	-			600			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1799G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277214	0.80580	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.96200	-3.94;-3.94	4.85	4.85	0.62838	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99264	1.0891	10	0.87932	D	0	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	600	Q9ULG1	INO80_HUMAN	V	600	ENSP00000355205:G600V;ENSP00000384686:G600V	ENSP00000355205:G600V	G	-	2	0	INO80	39139400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.053000	0.76641	2.536000	0.85505	0.644000	0.83932	GGA		PASS	0.328	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		52	161	52	161	---	---	---	---
PLA2G4D	283748	broad.mit.edu	37	15	42379860	42379860	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:42379860G>T	ENST00000290472.3	-	2	178	c.84C>A	c.(82-84)gtC>gtA	p.V28V		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	28	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.V28V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCGCCTCCAGGACCCTCACTG	0.607																																						uc001zox.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(82-84)GTC>GTA		phospholipase A2, group IVD							55.0	55.0	55.0					15																	42379860		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42379860G>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.84C>A	15.37:g.42379860G>T							p.V28V	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	2	179	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	28			C2.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.84C>A	CCDS32203.1																																																																																				PASS	0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		13	37	13	37	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43819245	43819245	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:43819245C>T	ENST00000300231.5	+	4	6024	c.5574C>T	c.(5572-5574)tcC>tcT	p.S1858S	MAP1A_ENST00000399453.1_Silent_p.S1858S|MAP1A_ENST00000382031.1_Silent_p.S2096S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1858					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.S1858S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCCCTCTCCCCAGCTCCTG	0.627																																						uc001zrt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5572-5574)TCC>TCT		microtubule-associated protein 1A	Estramustine(DB01196)						14.0	15.0	15.0					15																	43819245		1804	4056	5860	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819245C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5574C>T	15.37:g.43819245C>T							p.S1858S	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6041	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1858					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.5574C>T	CCDS42031.1																																																																																				PASS	0.627	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		26	19	26	19	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54860022	54860022	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:54860022G>T	ENST00000260323.11	+	29	5983	c.5983G>T	c.(5983-5985)Ggc>Tgc	p.G1995C	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1993C|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1995C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1995	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G1995C(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAGGAAATGGCCTGAAAAA	0.353																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5983-5985)GGC>TGC		unc-13 homolog C							56.0	53.0	54.0					15																	54860022		1792	4066	5858	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54860022G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5983G>T	15.37:g.54860022G>T	ENSP00000260323:p.Gly1995Cys						p.G1995C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	28	5983	+			1995			MHD2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5983G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819559	0.90873	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.95272	-3.66;-3.66;-3.66	5.91	5.91	0.95273	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98402	1.0568	10	0.87932	D	0	.	19.2837	0.94061	0.0:0.0:1.0:0.0	.	1995	Q8NB66	UN13C_HUMAN	C	1995;1995;1993	ENSP00000260323:G1995C;ENSP00000438156:G1995C;ENSP00000442569:G1993C	ENSP00000260323:G1995C	G	+	1	0	UNC13C	52647314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.946000	0.87746	2.805000	0.96524	0.460000	0.39030	GGC		PASS	0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	29	9	29	---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64551400	64551400	+	Splice_Site	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:64551400C>A	ENST00000303052.7	-	3	645	c.222G>T	c.(220-222)ctG>ctT	p.L74L	CSNK1G1_ENST00000303032.6_Splice_Site_p.L74L|CTD-2116N17.1_ENST00000606793.1_Splice_Site_p.L47L|CSNK1G1_ENST00000607537.1_Splice_Site_p.L74L	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L74L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTCTACTCACCAGTTTGATTG	0.323																																						uc002anf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(220-222)CTG>CTT		casein kinase 1, gamma 1							120.0	109.0	113.0					15																	64551400		2201	4296	6497	SO:0001630	splice_region_variant	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64551400C>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.222+1G>T	15.37:g.64551400C>A						CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Silent_p.L74L|CSNK1G1_uc002anh.1_Silent_p.L74L|CSNK1G1_uc002anj.2_Silent_p.L47L|CSNK1G1_uc010uip.1_RNA	p.L74L	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			3	702	-			74			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Silent	SNP	ENST00000303052.7	37	c.222G>T	CCDS10192.2																																																																																				PASS	0.323	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048	Silent	3	49	3	49	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68631962	68631962	+	Silent	SNP	G	G	A	rs371345473		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:68631962G>A	ENST00000315757.7	-	11	1238	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	ITGA11_ENST00000423218.2_Silent_p.A384A	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	384					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.A384A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AGGCACCGACGGCTCCCAGCA	0.597																																						uc002ari.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(1150-1152)GCC>GCT		integrin, alpha 11 precursor	Tirofiban(DB00775)	A		2,4084		0,2,2041	65.0	71.0	69.0		1152	-10.2	0.0	15		69	0,8380		0,0,4190	no	coding-synonymous	ITGA11	NM_001004439.1		0,2,6231	AA,AG,GG		0.0,0.0489,0.016		384/1189	68631962	2,12464	2043	4190	6233	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68631962G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1152C>T	15.37:g.68631962G>A						ITGA11_uc010bib.2_Silent_p.A384A	p.A384A	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			11	1239	-			384			FG-GAP 3.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.1152C>T	CCDS45291.1																																																																																				PASS	0.597	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		21	95	21	95	---	---	---	---
REC114	283677	broad.mit.edu	37	15	73843343	73843343	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:73843343G>A	ENST00000331090.6	+	4	426	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.C105Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		133					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.C133Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CTGGAACACTGCTGCAGTTGT	0.507																																						uc002avq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(397-399)TGC>TAC		hypothetical protein LOC283677							79.0	83.0	82.0					15																	73843343		1978	4168	6146	SO:0001583	missense	283677							g.chr15:73843343G>A																												ENST00000331090.6:c.398G>A	15.37:g.73843343G>A	ENSP00000328423:p.Cys133Tyr					C15orf60_uc010bjb.2_Missense_Mutation_p.C105Y	p.C133Y	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			4	426	+			133						Missense_Mutation	SNP	ENST00000331090.6	37	c.398G>A	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114865	0.56505	.	.	ENSG00000183324	ENST00000331090	T	0.70986	-0.53	5.73	4.82	0.62117	.	0.102804	0.64402	D	0.000002	D	0.82486	0.5047	M	0.70275	2.135	0.53688	D	0.999975	D	0.89917	1.0	D	0.87578	0.998	D	0.84513	0.0623	10	0.87932	D	0	-6.3045	13.4423	0.61121	0.0758:0.0:0.9242:0.0	.	133	Q7Z4M0	CO060_HUMAN	Y	133	ENSP00000328423:C133Y	ENSP00000328423:C133Y	C	+	2	0	C15orf60	71630396	1.000000	0.71417	0.106000	0.21319	0.592000	0.36648	6.530000	0.73816	1.417000	0.47077	0.655000	0.94253	TGC		PASS	0.507	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			25	72	25	72	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75657002	75657002	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:75657002T>A	ENST00000267978.5	-	5	473	c.427A>T	c.(427-429)Act>Tct	p.T143S	MAN2C1_ENST00000563622.1_Missense_Mutation_p.T143S|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000565683.1_Missense_Mutation_p.T143S|MAN2C1_ENST00000569482.1_Missense_Mutation_p.T143S	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	143					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.T143S(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						ACATAGAGAGTGAGGCTACAA	0.612																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)ACT>TCT		mannosidase, alpha, class 2C, member 1							29.0	28.0	28.0					15																	75657002		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75657002T>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.427A>T	15.37:g.75657002T>A	ENSP00000267978:p.Thr143Ser					MAN2C1_uc002bag.2_Missense_Mutation_p.T143S|MAN2C1_uc002bah.2_Missense_Mutation_p.T143S|MAN2C1_uc010bkk.2_Missense_Mutation_p.T143S|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_RNA|MAN2C1_uc010umk.1_RNA	p.T143S	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			5	444	-			143					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.427A>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	t	15.74	2.921482	0.52653	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.17854	2.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.80616	2.505	0.58432	D	0.999999	B;B;B	0.33022	0.123;0.394;0.212	B;B;B	0.30572	0.117;0.114;0.079	T	0.05954	-1.0854	10	0.09843	T	0.71	-28.0601	14.0744	0.64880	0.0:0.0:0.0:1.0	.	143;143;143	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	S	143	ENSP00000267978:T143S	ENSP00000267978:T143S	T	-	1	0	MAN2C1	73444055	1.000000	0.71417	0.987000	0.45799	0.711000	0.40976	7.795000	0.85887	1.935000	0.56089	0.398000	0.26397	ACT		PASS	0.612	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			16	28	16	28	---	---	---	---
CEMIP	57214	broad.mit.edu	37	15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:81181824C>T	ENST00000394685.3	+	10	1396	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M			Q8WUJ3	CEMIP_HUMAN		326	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483																																						uc002bfw.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(976-978)ACG>ATG		KIAA1199 precursor							137.0	115.0	123.0					15																	81181824		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181824C>T																												ENST00000394685.3:c.977C>T	15.37:g.81181824C>T	ENSP00000378177:p.Thr326Met					KIAA1199_uc010unn.1_Missense_Mutation_p.T326M	p.T326M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			9	1237	+			326					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.977C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259818	0.80246	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.27557	1.66;1.66;1.66	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.86502	2.82	0.52501	D	0.999958	D	0.89917	1.0	D	0.78314	0.991	T	0.61431	-0.7064	10	0.33940	T	0.23	-20.6437	20.1381	0.98040	0.0:1.0:0.0:0.0	.	326	Q8WUJ3	K1199_HUMAN	M	326	ENSP00000220244:T326M;ENSP00000378177:T326M;ENSP00000348583:T326M	ENSP00000220244:T326M	T	+	2	0	KIAA1199	78968879	1.000000	0.71417	0.971000	0.41717	0.730000	0.41778	6.019000	0.70818	2.763000	0.94921	0.650000	0.86243	ACG		PASS	0.483	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			32	94	32	94	---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89424922	89424922	+	Silent	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr15:89424922T>A	ENST00000359595.3	-	3	373	c.159A>T	c.(157-159)acA>acT	p.T53T	HAPLN3_ENST00000562889.1_Silent_p.T115T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	53	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.T53T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TCTCCTCGGGTGTCTCCACCA	0.632																																						uc002bnc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)ACA>ACT		hyaluronan and proteoglycan link protein 3							43.0	48.0	46.0					15																	89424922		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424922T>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.159A>T	15.37:g.89424922T>A						HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.T115T	p.T53T	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	287	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		53			Ig-like V-type.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.159A>T	CCDS10346.1																																																																																				PASS	0.632	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		30	65	30	65	---	---	---	---
WDR24	84219	broad.mit.edu	37	16	737632	737632	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:737632C>T	ENST00000248142.6	-	6	978	c.979G>A	c.(979-981)Gac>Aac	p.D327N	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Missense_Mutation_p.D197N			Q96S15	WDR24_HUMAN	WD repeat domain 24	327								p.D197N(1)|p.D327N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCGCACCGGTCGGGACGCCGG	0.632																																						uc002ciz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(589-591)GAC>AAC		WD repeat domain 24							102.0	85.0	91.0					16																	737632		2199	4300	6499	SO:0001583	missense	84219							g.chr16:737632C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.979G>A	16.37:g.737632C>T	ENSP00000248142:p.Asp327Asn						p.D197N	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			2	1349	-		Hepatocellular(780;0.0218)	270					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.589G>A		.	.	.	.	.	.	.	.	.	.	C	19.51	3.841648	0.71488	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77358	-1.09;0.32	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	N	0.20574	0.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81118	-0.1078	10	0.41790	T	0.15	-12.5902	17.5728	0.87940	0.0:1.0:0.0:0.0	.	197	Q96S15-2	.	N	327;197	ENSP00000248142:D327N;ENSP00000293883:D197N	ENSP00000248142:D327N	D	-	1	0	WDR24	677633	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.085000	0.76875	2.619000	0.88677	0.650000	0.86243	GAC		PASS	0.632	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		17	35	17	35	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819035	2819035	+	Nonsense_Mutation	SNP	C	C	T	rs200668425	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:2819035C>T	ENST00000301740.8	+	12	8320	c.7771C>T	c.(7771-7773)Cga>Tga	p.R2591*	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2591	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2591*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGAGGCTGTTCGAGAGGGACG	0.627																																						uc002crk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7771-7773)CGA>TGA		splicing coactivator subunit SRm300							97.0	87.0	90.0					16																	2819035		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819035C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7771C>T	16.37:g.2819035C>T	ENSP00000301740:p.Arg2591*						p.R2591*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			12	8320	+			2591			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.7771C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	51	17.479283	0.99887	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.24	3.22	0.36961	.	0.134395	0.34178	N	0.004191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4715	10.9916	0.47553	0.3453:0.6547:0.0:0.0	.	.	.	.	X	2591;2173;1843	.	ENSP00000301740:R2591X	R	+	1	2	SRRM2	2759036	0.928000	0.31464	0.964000	0.40570	0.947000	0.59692	1.707000	0.37888	0.541000	0.28827	-0.615000	0.04050	CGA		PASS	0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	65	13	65	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31283176	31283176	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:31283176G>T	ENST00000287497.8	+	7	642	c.567G>T	c.(565-567)ttG>ttT	p.L189F	ITGAM_ENST00000544665.3_Missense_Mutation_p.L189F			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	189	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.L189F(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGTTCTCTTTGATGCAGTACT	0.517																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(565-567)TTG>TTT		integrin alpha M isoform 2 precursor							41.0	41.0	41.0					16																	31283176		1905	4121	6026	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283176G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.567G>T	16.37:g.31283176G>T	ENSP00000287497:p.Leu189Phe					ITGAM_uc002ebr.2_Missense_Mutation_p.L189F	p.L189F	NM_000632	NP_000623	P11215	ITAM_HUMAN			7	665	+			189			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.567G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112437	0.56398	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.86562	-2.14;-2.14	5.5	3.54	0.40534	von Willebrand factor, type A (3);	.	.	.	.	D	0.92466	0.7608	M	0.81112	2.525	0.34563	D	0.71255	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94030	0.7300	9	0.72032	D	0.01	.	9.8308	0.40941	0.1621:0.0:0.8379:0.0	.	189;189	Q4VAK1;P11215	.;ITAM_HUMAN	F	189	ENSP00000441691:L189F;ENSP00000287497:L189F	ENSP00000287497:L189F	L	+	3	2	ITGAM	31190677	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	1.920000	0.40025	0.813000	0.34350	0.561000	0.74099	TTG		PASS	0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		18	51	18	51	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57931765	57931765	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:57931765C>T	ENST00000251102.8	-	30	3090	c.3030G>A	c.(3028-3030)ttG>ttA	p.L1010L	CNGB1_ENST00000564448.1_Silent_p.L1004L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1010					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.L1010L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGGGCCGCCCAAGACCTGCA	0.552																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|pancreas(1)	4						c.(3028-3030)TTG>TTA		cyclic nucleotide gated channel beta 1 isoform							157.0	167.0	164.0					16																	57931765		2029	4196	6225	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57931765C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3030G>A	16.37:g.57931765C>T						CNGB1_uc010cdh.2_Silent_p.L1004L	p.L1010L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			30	3095	-			1010			Cytoplasmic (Potential).|cAMP (By similarity).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.3030G>A	CCDS42169.1																																																																																				PASS	0.552	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		26	211	26	211	---	---	---	---
WFDC1	58189	broad.mit.edu	37	16	84353145	84353145	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:84353145G>A	ENST00000219454.5	+	4	856	c.530G>A	c.(529-531)cGt>cAt	p.R177H	WFDC1_ENST00000568638.1_Missense_Mutation_p.R177H	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	177					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R177H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						ATCCCCAACCGTGGGCAGTGC	0.662																																						uc002fhw.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(529-531)CGT>CAT		WAP four-disulfide core domain 1 precursor							81.0	64.0	70.0					16																	84353145		2200	4300	6500	SO:0001583	missense	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353145G>A	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.530G>A	16.37:g.84353145G>A	ENSP00000219454:p.Arg177His					WFDC1_uc002fhv.2_Missense_Mutation_p.R177H	p.R177H	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN			4	707	+			177					D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	c.530G>A	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160870	0.38119	.	.	ENSG00000103175	ENST00000219454	T	0.35421	1.31	4.43	3.47	0.39725	.	0.064320	0.64402	N	0.000016	T	0.22475	0.0542	N	0.19112	0.55	0.49483	D	0.999794	B	0.16802	0.019	B	0.12156	0.007	T	0.04320	-1.0960	10	0.33141	T	0.24	-13.5649	10.3517	0.43939	0.0994:0.0:0.9006:0.0	.	177	Q9HC57	WFDC1_HUMAN	H	177	ENSP00000219454:R177H	ENSP00000219454:R177H	R	+	2	0	WFDC1	82910646	0.765000	0.28485	0.789000	0.31954	0.577000	0.36160	2.044000	0.41241	1.051000	0.40369	0.555000	0.69702	CGT		PASS	0.662	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			11	52	11	52	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88779197	88779197	+	IGR	SNP	G	G	T	rs200363327		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr16:88779197G>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Silent_p.P120P|CTU2_ENST00000567949.1_Silent_p.P278P|CTU2_ENST00000312060.5_Silent_p.P207P|CTU2_ENST00000453996.2_Silent_p.P207P	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.P207P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CCCAGCCCCCGCTGGACCCCC	0.667																																						uc002flm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(619-621)CCG>CCT		cytoplasmic tRNA 2-thiolation protein 2 isoform							16.0	19.0	18.0					16																	88779197		2190	4289	6479	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88779197G>T	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779197G>T						CTU2_uc002fln.2_Silent_p.P207P|CTU2_uc010chz.2_Silent_p.P278P|CTU2_uc010cia.2_Silent_p.P120P	p.P207P	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			7	669	+			207					A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	c.621G>T	CCDS54058.1																																																																																				PASS	0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		7	10	7	10	---	---	---	---
P2RX5	5026	broad.mit.edu	37	17	3595086	3595086	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:3595086C>A	ENST00000225328.5	-	2	538	c.140G>T	c.(139-141)tGg>tTg	p.W47L	P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.W47L|P2RX5_ENST00000552050.1_Missense_Mutation_p.W11L|P2RX5_ENST00000547178.1_Missense_Mutation_p.W47L|P2RX5_ENST00000345901.3_Missense_Mutation_p.W47L|P2RX5_ENST00000435558.1_Missense_Mutation_p.W47L|P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000552276.1_Missense_Mutation_p.W47L|P2RX5_ENST00000551178.1_Missense_Mutation_p.W47L	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	47					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.W47L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGGAACACCCATCTGTGGGA	0.592																																						uc002fwi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TGG>TTG		purinergic receptor P2X5 isoform A							134.0	123.0	127.0					17																	3595086		2203	4300	6503	SO:0001583	missense	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3595086C>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.140G>T	17.37:g.3595086C>A	ENSP00000225328:p.Trp47Leu					P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.W47L|P2RX5_uc010vrx.1_Missense_Mutation_p.W11L|P2RX5_uc002fwj.2_Missense_Mutation_p.W47L|P2RX5_uc002fwk.2_Missense_Mutation_p.W47L|P2RX5_uc002fwl.2_Missense_Mutation_p.W47L|P2RX5_uc002fwm.1_Missense_Mutation_p.W47L	p.W47L	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			2	424	-			47			Helical; Name=1; (Potential).		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.140G>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217257	0.79352	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29	5.13	5.13	0.70059	.	.	.	.	.	T	0.34513	0.0900	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.99;0.99;0.998;0.992;0.998	D;P;P;D;D;D	0.91635	0.999;0.869;0.897;0.988;0.954;0.988	T	0.40850	-0.9541	9	0.87932	D	0	-14.2323	18.0122	0.89227	0.0:1.0:0.0:0.0	.	11;47;47;47;47;47	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	L	47;47;47;47;47;11;47	ENSP00000415370:W47L;ENSP00000447545:W47L;ENSP00000448355:W47L;ENSP00000225328:W47L;ENSP00000342161:W47L;ENSP00000450006:W11L	ENSP00000225328:W47L	W	-	2	0	P2RX5	3541835	1.000000	0.71417	0.997000	0.53966	0.351000	0.29236	4.957000	0.63652	2.572000	0.86782	0.558000	0.71614	TGG		PASS	0.592	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		45	120	45	120	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5993784	5993784	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:5993784C>T	ENST00000574946.1	+	4	1076	c.686C>T	c.(685-687)tCc>tTc	p.S229F	WSCD1_ENST00000317744.5_Missense_Mutation_p.S229F|WSCD1_ENST00000539421.1_Missense_Mutation_p.S229F|WSCD1_ENST00000573634.1_Missense_Mutation_p.S113F|WSCD1_ENST00000574232.1_Missense_Mutation_p.S229F			Q658N2	WSCD1_HUMAN	WSC domain containing 1	229	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.S229F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GACCGGCTCTCCGTGTACCGT	0.657																																						uc010cli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)TCC>TTC		WSC domain containing 1							58.0	58.0	58.0					17																	5993784		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5993784C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.686C>T	17.37:g.5993784C>T	ENSP00000460825:p.Ser229Phe					WSCD1_uc002gcn.2_Missense_Mutation_p.S229F|WSCD1_uc002gco.2_Missense_Mutation_p.S229F|WSCD1_uc010clj.2_5'UTR	p.S229F	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			4	1065	+			229			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.686C>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551263	0.65311	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.39056	1.1;1.1	6.04	6.04	0.98038	Carbohydrate-binding WSC (1);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.76233	-0.3034	10	0.62326	D	0.03	-35.8706	18.0887	0.89466	0.0:1.0:0.0:0.0	.	229	Q658N2	WSCD1_HUMAN	F	229	ENSP00000323087:S229F;ENSP00000446032:S229F	ENSP00000323087:S229F	S	+	2	0	WSCD1	5934508	1.000000	0.71417	0.951000	0.38953	0.112000	0.19704	7.101000	0.76997	2.873000	0.98535	0.563000	0.77884	TCC		PASS	0.657	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		26	41	26	41	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	rs587780075		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000420246.2_Missense_Mutation_p.R267P	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAAGCTGTTCCGTCCCAGTAG	0.527		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		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(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	CM921040	TP53	M		c.(799-801)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	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.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	p.R267P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	31	15	31	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10315825	10315825	+	Silent	SNP	C	C	A	rs113680036		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:10315825C>A	ENST00000403437.2	-	14	1372	c.1278G>T	c.(1276-1278)gcG>gcT	p.A426A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	426	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A426A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCACCCACCGCATTGTACA	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(1276-1278)GCG>GCT		myosin, heavy chain 8, skeletal muscle,							314.0	279.0	291.0					17																	10315825		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315825C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1278G>T	17.37:g.10315825C>A						uc002gml.1_Intron	p.A426A	NM_002472	NP_002463	P13535	MYH8_HUMAN			14	1373	-			426			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.1278G>T	CCDS11153.1																																																																																				PASS	0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		147	381	147	381	---	---	---	---
RASD1	51655	broad.mit.edu	37	17	17398864	17398864	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:17398864C>G	ENST00000225688.3	-	2	632	c.421G>C	c.(421-423)Gtc>Ctc	p.V141L	RASD1_ENST00000579152.1_Missense_Mutation_p.G116A	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	141					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V141L(1)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CCGCAGATGACCAGGGGCACG	0.632																																						uc002gri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GTC>CTC		RAS, dexamethasone-induced 1 precursor							39.0	32.0	34.0					17																	17398864		2202	4300	6502	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398864C>G	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.421G>C	17.37:g.17398864C>G	ENSP00000225688:p.Val141Leu						p.V141L	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN			2	633	-			141					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.421G>C	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081214	0.55753	.	.	ENSG00000108551	ENST00000225688	T	0.79554	-1.28	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.60067	1.865	0.38922	D	0.957762	P	0.42123	0.771	P	0.46917	0.531	D	0.86319	0.1691	10	0.72032	D	0.01	.	17.14	0.86750	0.0:1.0:0.0:0.0	.	141	Q9Y272	RASD1_HUMAN	L	141	ENSP00000225688:V141L	ENSP00000225688:V141L	V	-	1	0	RASD1	17339589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.628000	0.83189	2.270000	0.75569	0.655000	0.94253	GTC		PASS	0.632	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		9	24	9	24	---	---	---	---
ZNF830	91603	broad.mit.edu	37	17	33289390	33289390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:33289390C>T	ENST00000361952.3	+	1	842	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	269					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q269*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TCCAAAAGATCAGATGGACAA	0.493																																						uc002hih.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(805-807)CAG>TAG		coiled-coil domain containing 16							99.0	87.0	91.0					17																	33289390		2203	4300	6503	SO:0001587	stop_gained	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289390C>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.805C>T	17.37:g.33289390C>T	ENSP00000354518:p.Gln269*					CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	p.Q269*	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN			1	842	+		Ovarian(249;0.17)	269					Q96F60|Q96GZ5|Q9BU38	Nonsense_Mutation	SNP	ENST00000361952.3	37	c.805C>T	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852968	0.97885	.	.	ENSG00000198783	ENST00000361952	.	.	.	6.08	6.08	0.98989	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-15.2873	16.1635	0.81734	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000354518:Q269X	Q	+	1	0	ZNF830	30313503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.618000	0.74214	2.894000	0.99253	0.655000	0.94253	CAG		PASS	0.493	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		38	87	38	87	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008401	50008401	+	Missense_Mutation	SNP	C	C	A	rs267604958		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:50008401C>A	ENST00000285273.4	-	4	1339	c.228G>T	c.(226-228)atG>atT	p.M76I	CA10_ENST00000570565.1_Start_Codon_SNP_p.M1I|CA10_ENST00000442502.2_Missense_Mutation_p.M76I|CA10_ENST00000451037.2_Missense_Mutation_p.M76I|CA10_ENST00000340813.6_Missense_Mutation_p.M82I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	76					brain development (GO:0007420)			p.M76I(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GGTCGAAGATCATGTGACTGG	0.498																																						uc002itw.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(226-228)ATG>ATT		carbonic anhydrase X							277.0	259.0	265.0					17																	50008401		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:50008401C>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.228G>T	17.37:g.50008401C>A	ENSP00000285273:p.Met76Ile					CA10_uc002itv.3_Missense_Mutation_p.M82I|CA10_uc002itx.3_Missense_Mutation_p.M76I|CA10_uc002ity.3_Missense_Mutation_p.M76I|CA10_uc002itz.2_Missense_Mutation_p.M76I	p.M76I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1214	-			76					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.228G>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996016	0.74703	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.93	5.93	0.95920	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	N	0.03268	-0.37	0.58432	D	0.999999	B;B	0.15473	0.013;0.013	B;B	0.12837	0.008;0.008	T	0.48103	-0.9064	9	.	.	.	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	76;82	Q9NS85;Q68D28	CAH10_HUMAN;.	I	76;76;76;82	ENSP00000390666:M76I;ENSP00000285273:M76I;ENSP00000405388:M76I;ENSP00000340363:M82I	.	M	-	3	0	CA10	47363400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.826000	0.97356	0.655000	0.94253	ATG		PASS	0.498	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		107	262	107	262	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74007920	74007920	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:74007920G>A	ENST00000301607.3	-	20	2754	c.2501C>T	c.(2500-2502)cCc>cTc	p.P834L	EVPL_ENST00000586740.1_Missense_Mutation_p.P856L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	834	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.P834L(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCCAGGGTGGGCTCCAAAGA	0.642																																						uc002jqi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(2500-2502)CCC>CTC		envoplakin							31.0	33.0	33.0					17																	74007920		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74007920G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2501C>T	17.37:g.74007920G>A	ENSP00000301607:p.Pro834Leu					EVPL_uc010wss.1_Missense_Mutation_p.P856L|EVPL_uc010wst.1_Missense_Mutation_p.P304L	p.P834L	NM_001988	NP_001979	Q92817	EVPL_HUMAN			20	2729	-			834			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2501C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126414	0.37533	.	.	ENSG00000167880	ENST00000301607	T	0.65178	-0.14	5.49	4.53	0.55603	.	0.433846	0.26159	N	0.025993	T	0.61540	0.2355	M	0.65975	2.015	0.47737	D	0.999506	B;B	0.28713	0.22;0.015	B;B	0.30495	0.116;0.018	T	0.63422	-0.6641	10	0.62326	D	0.03	-22.0399	12.7097	0.57082	0.0763:0.0:0.9237:0.0	.	856;834	B7ZLH8;Q92817	.;EVPL_HUMAN	L	834	ENSP00000301607:P834L	ENSP00000301607:P834L	P	-	2	0	EVPL	71519515	1.000000	0.71417	0.952000	0.39060	0.470000	0.32858	4.142000	0.58044	1.320000	0.45209	0.655000	0.94253	CCC		PASS	0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		17	42	17	42	---	---	---	---
MXRA7	439921	broad.mit.edu	37	17	74681210	74681210	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:74681210C>T	ENST00000355797.3	-	3	452	c.444G>A	c.(442-444)ctG>ctA	p.L148L	MXRA7_ENST00000592148.1_Silent_p.L191L|MXRA7_ENST00000449428.2_Silent_p.L148L|MXRA7_ENST00000588114.1_5'UTR|MXRA7_ENST00000589082.1_5'UTR|MXRA7_ENST00000375036.2_Silent_p.L148L|MXRA7_ENST00000585519.1_5'UTR	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	148						integral component of membrane (GO:0016021)		p.L148L(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GGTTTCCCCTCAGCTTCCCGG	0.622																																						uc002jsk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)CTG>CTA		transmembrane anchor protein 1 isoform 1							149.0	141.0	144.0					17																	74681210		2203	4300	6503	SO:0001819	synonymous_variant	439921					integral to membrane		g.chr17:74681210C>T	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.444G>A	17.37:g.74681210C>T						MXRA7_uc002jsl.2_Silent_p.L148L|MXRA7_uc002jsm.2_Silent_p.L148L	p.L148L	NM_001008528	NP_001008528	P84157	MXRA7_HUMAN			3	472	-			148					Q0P5W3	Silent	SNP	ENST00000355797.3	37	c.444G>A	CCDS32745.1																																																																																				PASS	0.622	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		77	222	77	222	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75139682	75139682	+	Missense_Mutation	SNP	G	G	T	rs371430429		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:75139682G>T	ENST00000413679.2	+	3	307	c.4G>T	c.(4-6)Gtg>Ttg	p.V2L	SEC14L1_ENST00000591437.1_5'Flank|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V2L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V2L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V2L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V2L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V2L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	2	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V2L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAATCATGGTGCAGAAATA	0.363																																						uc002jto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4-6)GTG>TTG		SEC14 (S. cerevisiae)-like 1 isoform a							144.0	130.0	134.0					17																	75139682		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75139682G>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.4G>T	17.37:g.75139682G>T	ENSP00000394716:p.Val2Leu					SEC14L1_uc010dhc.2_Missense_Mutation_p.V2L|SEC14L1_uc010wth.1_Missense_Mutation_p.V2L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V2L	p.V2L	NM_003003	NP_002994	Q92503	S14L1_HUMAN			3	271	+			2			PRELI/MSF1.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.4G>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002985	0.74932	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.18	5.18	0.71444	.	0.140159	0.48767	D	0.000174	D	0.87744	0.6254	M	0.88842	2.985	0.48452	D	0.999652	D;D	0.63880	0.993;0.987	P;P	0.58520	0.84;0.696	D	0.89976	0.4097	10	0.87932	D	0	-36.2358	14.5548	0.68094	0.0:0.0:1.0:0.0	.	2;2	Q92503-2;Q92503	.;S14L1_HUMAN	L	2	ENSP00000376268:V2L;ENSP00000406030:V2L;ENSP00000390392:V2L;ENSP00000408169:V2L;ENSP00000394716:V2L	ENSP00000376268:V2L	V	+	1	0	SEC14L1	72651277	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.911000	0.75746	2.570000	0.86706	0.555000	0.69702	GTG		PASS	0.363	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		32	89	32	89	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79226320	79226320	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr17:79226320C>T	ENST00000374759.3	-	13	2003	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	SLC38A10_ENST00000288439.5_Silent_p.P540P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	540					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P540P(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGGCAGAGGCGGCGCCATCT	0.622																																						uc002jzz.1																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	pancreas(1)|skin(1)	2						c.(1618-1620)CCG>CCA		solute carrier family 38, member 10 isoform a							50.0	52.0	51.0					17																	79226320		2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226320C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1620G>A	17.37:g.79226320C>T						SLC38A10_uc002jzy.1_Silent_p.P458P|SLC38A10_uc002kab.2_Silent_p.P540P	p.P540P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1995	-	all_neural(118;0.0804)|Melanoma(429;0.242)		540					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1620G>A	CCDS42397.1																																																																																				PASS	0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		27	118	27	118	---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44470609	44470609	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr18:44470609C>T	ENST00000585916.1	-	2	432	c.433G>A	c.(433-435)Gat>Aat	p.D145N	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.D145N	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	145	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D145N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AACTGCACATCAGGATGGACA	0.443																																						uc002lck.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(433-435)GAT>AAT		protein inhibitor of activated STAT X isoform							91.0	79.0	83.0					18																	44470609		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470609C>T	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.433G>A	18.37:g.44470609C>T	ENSP00000465676:p.Asp145Asn					PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Missense_Mutation_p.D145N|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.D145N|PIAS2_uc002lcn.1_Missense_Mutation_p.D149N	p.D145N	NM_004671	NP_004662	O75928	PIAS2_HUMAN			2	591	-			145			PINIT.		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.433G>A	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323118	0.95708	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.45276	0.9	6.16	6.16	0.99307	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.987;0.999	D;D;D;D	0.81914	0.981;0.995;0.918;0.992	T	0.62863	-0.6764	10	0.87932	D	0	-13.5623	20.8598	0.99761	0.0:1.0:0.0:0.0	.	149;145;145;145	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	N	145;145;141;145	ENSP00000317163:D145N	ENSP00000262161:D145N	D	-	1	0	PIAS2	42724607	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.792000	0.85828	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.443	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		17	61	17	61	---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51904607	51904607	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr18:51904607G>A	ENST00000300091.5	+	8	1442	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P	C18orf54_ENST00000382911.4_Silent_p.P531P|C18orf54_ENST00000578138.1_Silent_p.P149P|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	370						extracellular region (GO:0005576)		p.P370P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AACGGTCACCGAAAATGTGAA	0.353																																						uc002lfn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1108-1110)CCG>CCA		hypothetical protein LOC162681 precursor							75.0	69.0	71.0					18																	51904607		2203	4300	6503	SO:0001819	synonymous_variant	162681					extracellular region		g.chr18:51904607G>A	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.1110G>A	18.37:g.51904607G>A						C18orf54_uc002lfo.3_Silent_p.P531P	p.P370P	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	8	1226	+			370					I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	ENST00000300091.5	37	c.1110G>A	CCDS11956.1																																																																																				PASS	0.353	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		16	65	16	65	---	---	---	---
ONECUT2	9480	broad.mit.edu	37	18	55143879	55143879	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr18:55143879G>A	ENST00000491143.2	+	2	1471	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	480					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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.R480H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCCCGGCGCCGCAGCCTGGAG	0.582																																						uc002lgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1438-1440)CGC>CAC		one cut domain, family member 2							37.0	42.0	41.0					18																	55143879		2069	4234	6303	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143879G>A	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1439G>A	18.37:g.55143879G>A	ENSP00000419185:p.Arg480His						p.R480H	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1471	+		Colorectal(73;0.234)	480			Homeobox.			Missense_Mutation	SNP	ENST00000491143.2	37	c.1439G>A	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731486	0.89390	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	5.14	0.70334	Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90468	0.4451	9	0.87932	D	0	-20.3104	17.0263	0.86447	0.0:0.1273:0.8727:0.0	.	480	O95948	ONEC2_HUMAN	H	461;480	.	ENSP00000262095:R480H	R	+	2	0	ONECUT2	53294877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.539000	0.49286	0.650000	0.86243	CGC		PASS	0.582	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			18	40	18	40	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64197141	64197141	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr18:64197141C>T	ENST00000540086.1	-	9	1645	c.1399G>A	c.(1399-1401)Gct>Act	p.A467T	CDH19_ENST00000262150.2_Missense_Mutation_p.A467T	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	575	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A467T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACTCAGGAGCATGATCATTG	0.318																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1399-1401)GCT>ACT		cadherin 19, type 2 preproprotein							123.0	121.0	122.0					18																	64197141		2203	4298	6501	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197141C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1399G>A	18.37:g.64197141C>T	ENSP00000439593:p.Ala467Thr					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A467T	p.A467T	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			9	1537	-		Esophageal squamous(42;0.0132)	467			Cadherin 4.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1399G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242089	0.39598	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.61742	0.08;0.09	5.53	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.175135	0.49916	D	0.000122	T	0.72653	0.3487	M	0.80616	2.505	0.40416	D	0.979796	P;P	0.48503	0.911;0.865	P;P	0.54965	0.765;0.464	T	0.78656	-0.2119	10	0.87932	D	0	.	15.3093	0.74019	0.0:0.8589:0.1411:0.0	.	467;467	F5H1K0;Q9H159	.;CAD19_HUMAN	T	467	ENSP00000262150:A467T;ENSP00000439593:A467T	ENSP00000262150:A467T	A	-	1	0	CDH19	62348121	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	2.023000	0.41040	1.328000	0.45358	0.650000	0.86243	GCT		PASS	0.318	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		39	194	39	194	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1111044	1111044	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:1111044C>T	ENST00000361757.3	-	25	3095	c.2858G>A	c.(2857-2859)cGg>cAg	p.R953Q	SBNO2_ENST00000587024.1_Missense_Mutation_p.R943Q|SBNO2_ENST00000438103.2_Missense_Mutation_p.R896Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	953					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.R960Q(1)|p.R953Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCATTCCGGGACTCCCG	0.662																																						uc002lrk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2857-2859)CGG>CAG		strawberry notch homolog 2 isoform 1							26.0	32.0	30.0					19																	1111044		2018	4178	6196	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1111044C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2858G>A	19.37:g.1111044C>T	ENSP00000354733:p.Arg953Gln					SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Missense_Mutation_p.R896Q|SBNO2_uc010dse.2_Missense_Mutation_p.R936Q|SBNO2_uc010xgj.1_Intron	p.R953Q	NM_014963	NP_055778	Q9Y2G9	SBNO2_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)	25	3096	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	953					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2858G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604790	0.46423	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.45	3.39	0.38822	.	0.197136	0.38663	N	0.001617	T	0.41073	0.1143	L	0.42245	1.32	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.60609	0.877;0.745	T	0.11275	-1.0594	9	0.36615	T	0.2	-33.4618	6.3403	0.21319	0.0:0.7241:0.0:0.2759	.	953;896	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	Q	953;896;960	.	ENSP00000250872:R960Q	R	-	2	0	SBNO2	1062044	0.000000	0.05858	0.262000	0.24481	0.040000	0.13550	0.649000	0.24843	2.170000	0.68504	0.555000	0.69702	CGG		PASS	0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		4	8	4	8	---	---	---	---
CSNK1G2	1455	broad.mit.edu	37	19	1978856	1978856	+	Splice_Site	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:1978856A>T	ENST00000255641.8	+	6	942		c.e6-1			NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCCTGCAGATCACGCGC	0.726																																					Ovarian(91;880 1392 21236 36928 37598)	uc002lul.3																			1	Unknown(1)		lung(1)	stomach(1)	1						c.e7-2		casein kinase 1, gamma 2							21.0	19.0	20.0					19																	1978856		2126	4132	6258	SO:0001630	splice_region_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978856A>T	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.448-1A>T	19.37:g.1978856A>T						CSNK1G2_uc010dsu.2_Splice_Site_p.I102_splice	p.I150_splice	NM_001319	NP_001310	P78368	KC1G2_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)	7	971	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)						B5BU42|O00704|Q8WUB1	Splice_Site	SNP	ENST00000255641.8	37	c.448_splice	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901229	0.33535	.	.	ENSG00000133275	ENST00000255641	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1722	0.48577	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSNK1G2	1929856	1.000000	0.71417	0.902000	0.35471	0.183000	0.23260	8.883000	0.92426	1.529000	0.49120	0.418000	0.28097	.		PASS	0.726	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319	Intron	19	36	19	36	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5131486	5131486	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:5131486G>T	ENST00000159111.4	+	12	1933	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	KDM4B_ENST00000536461.1_Missense_Mutation_p.G606V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	572					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.G572V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAGCTGACGGGGCCAGAGGAC	0.672																																						uc002mbq.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1714-1716)GGG>GTG		jumonji domain containing 2B							27.0	28.0	28.0					19																	5131486		2198	4291	6489	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5131486G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1715G>T	19.37:g.5131486G>T	ENSP00000159111:p.Gly572Val					KDM4B_uc010xim.1_Missense_Mutation_p.G606V|KDM4B_uc002mbr.3_Missense_Mutation_p.G330V	p.G572V	NM_015015	NP_055830	O94953	KDM4B_HUMAN			12	1941	+			572					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.1715G>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.242334	0.01481	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.17054	2.33;2.3	2.65	-0.934	0.10428	.	3.532630	0.00496	N	0.000143	T	0.12944	0.0314	L	0.36672	1.1	0.18873	N	0.999989	B;B	0.22983	0.078;0.007	B;B	0.25405	0.06;0.006	T	0.17868	-1.0355	10	0.29301	T	0.29	-14.2888	0.9503	0.01374	0.2688:0.1628:0.384:0.1844	.	606;572	F5GX28;O94953	.;KDM4B_HUMAN	V	572;606	ENSP00000159111:G572V;ENSP00000440495:G606V	ENSP00000159111:G572V	G	+	2	0	KDM4B	5082486	0.008000	0.16893	0.225000	0.23894	0.009000	0.06853	0.014000	0.13333	-0.096000	0.12329	-0.218000	0.12543	GGG		PASS	0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		24	34	24	34	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048195	9048195	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:9048195G>T	ENST00000397910.4	-	5	33639	c.33436C>A	c.(33436-33438)Cct>Act	p.P11146T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11148	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11146T(1)|p.P6779T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTACCTCAGGTGAAACAGTT	0.458																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33436-33438)CCT>ACT		mucin 16							91.0	82.0	85.0					19																	9048195		1906	4136	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048195G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33436C>A	19.37:g.9048195G>T	ENSP00000381008:p.Pro11146Thr						p.P11146T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33640	-			11148			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33436C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.262	0.047783	0.08243	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	2.75	-2.95	0.05564	.	.	.	.	.	T	0.04092	0.0114	M	0.63843	1.955	.	.	.	B	0.23854	0.092	B	0.24394	0.053	T	0.44620	-0.9316	8	0.87932	D	0	.	1.2986	0.02075	0.1255:0.1848:0.3141:0.3756	.	11146	B5ME49	.	T	11146	ENSP00000381008:P11146T	ENSP00000381008:P11146T	P	-	1	0	MUC16	8909195	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.993000	0.03720	-0.494000	0.06669	-0.270000	0.10280	CCT		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	73	22	73	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9066587	9066587	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:9066587C>A	ENST00000397910.4	-	3	21062	c.20859G>T	c.(20857-20859)ctG>ctT	p.L6953L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6955	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L6953L(2)|p.L2586L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTCTCAGTCCAGGAG	0.458																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20857-20859)CTG>CTT		mucin 16							154.0	149.0	151.0					19																	9066587		1930	4146	6076	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066587C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20859G>T	19.37:g.9066587C>A							p.L6953L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21063	-			6955			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20859G>T	CCDS54212.1																																																																																				PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		102	239	102	239	---	---	---	---
CASP14	23581	broad.mit.edu	37	19	15166251	15166251	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:15166251C>A	ENST00000427043.3	+	6	839	c.531C>A	c.(529-531)gcC>gcA	p.A177A	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Silent_p.A177A	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	177					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.A177A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GATACATCGCCTACCGACATG	0.532																																						uc010dzv.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(529-531)GCC>GCA		caspase 14 precursor							105.0	91.0	96.0					19																	15166251		2203	4300	6503	SO:0001819	synonymous_variant	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166251C>A		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.531C>A	19.37:g.15166251C>A						CASP14_uc002naf.2_Silent_p.A177A	p.A177A	NM_012114	NP_036246	P31944	CASPE_HUMAN			6	839	+			177					O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	37	c.531C>A	CCDS12323.1																																																																																				PASS	0.532	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		38	93	38	93	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22586297	22586297	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:22586297C>A	ENST00000357774.5	-	2	169	c.48G>T	c.(46-48)agG>agT	p.R16S	ZNF98_ENST00000601553.1_Missense_Mutation_p.R16S	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	16	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.R16S(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGCCACATCCCTAAATGTCA	0.393																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(46-48)AGG>AGT		zinc finger protein 98							89.0	96.0	94.0					19																	22586297		2199	4296	6495	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22586297C>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.48G>T	19.37:g.22586297C>A	ENSP00000350418:p.Arg16Ser						p.R16S	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			2	170	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	16			KRAB.			Missense_Mutation	SNP	ENST00000357774.5	37	c.48G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.017650	0.35606	.	.	ENSG00000197360	ENST00000357774	T	0.01787	4.64	1.06	-0.126	0.13515	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.56280	1.765	0.09310	N	1	B	0.27068	0.167	B	0.38327	0.271	T	0.45702	-0.9243	9	0.52906	T	0.07	.	2.9108	0.05736	0.0:0.6255:0.0:0.3745	.	16	A6NK75	ZNF98_HUMAN	S	16	ENSP00000350418:R16S	ENSP00000350418:R16S	R	-	3	2	ZNF98	22378137	0.979000	0.34478	0.512000	0.27736	0.550000	0.35303	0.073000	0.14640	0.532000	0.28657	0.298000	0.19748	AGG		PASS	0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		47	123	47	123	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	A	rs374821944	byFrequency	TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:23544756C>A	ENST00000300619.7	-	4	1230	c.1025G>T	c.(1024-1026)aGa>aTa	p.R342I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	342					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.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373													C|||	4	0.000798722	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.0041					uc002nre.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1024-1026)AGA>ATA		zinc finger protein 91		C	ILE/ARG	0,4132		0,0,2066	58.0	61.0	60.0		1025	1.0	0.0	19		60	1,8461		0,1,4230	no	missense	ZNF91	NM_003430.2	97	0,1,6296	AA,AC,CC		0.0118,0.0,0.0079	probably-damaging	342/1192	23544756	1,12593	2066	4231	6297	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544756C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1025G>T	19.37:g.23544756C>A	ENSP00000300619:p.Arg342Ile					ZNF91_uc010xrj.1_Missense_Mutation_p.R310I	p.R342I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1138	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	342			C2H2-type 7.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1025G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581142	0.28180	0.0	1.18E-4	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24908	1.83;1.83	2.15	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34221	0.0890	L	0.41492	1.28	0.09310	N	1	B;D	0.67145	0.413;0.996	B;D	0.66847	0.109;0.947	T	0.11060	-1.0603	9	0.51188	T	0.08	.	5.9371	0.19171	0.0:0.6965:0.0:0.3035	.	310;342	Q05481-2;Q05481	.;ZNF91_HUMAN	I	342;310	ENSP00000300619:R342I;ENSP00000380272:R310I	ENSP00000300619:R342I	R	-	2	0	ZNF91	23336596	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-2.511000	0.00958	0.232000	0.21100	0.162000	0.16502	AGA		PASS	0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	229	8	229	---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556848	35556848	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:35556848G>T	ENST00000262626.2	+	12	1952	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	HPN_ENST00000597419.1_Missense_Mutation_p.S218I|HPN_ENST00000392226.1_Missense_Mutation_p.S376I|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	376	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.S376I(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGCATTGTGAGTTGGGGCACT	0.612																																						uc002nxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1126-1128)AGT>ATT		hepsin	Coagulation factor VIIa(DB00036)						122.0	126.0	125.0					19																	35556848		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556848G>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1127G>T	19.37:g.35556848G>T	ENSP00000262626:p.Ser376Ile					HPN_uc002nxr.1_Missense_Mutation_p.S376I|HPN_uc002nxs.1_Missense_Mutation_p.S218I|HPN_uc010xsh.1_Missense_Mutation_p.S345I|HPN_uc002nxt.1_Missense_Mutation_p.S260I|LOC100128675_uc010xsi.1_Intron	p.S376I	NM_002151	NP_002142	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		13	1372	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		376			Extracellular (Potential).|Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1127G>T	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493251	0.84962	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.93133	-3.17;-3.17	4.87	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97900	1.0302	10	0.87932	D	0	.	12.6781	0.56906	0.0:0.1674:0.8326:0.0	.	348;376;376	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	I	376;376;348	ENSP00000262626:S376I;ENSP00000376060:S376I	ENSP00000262626:S376I	S	+	2	0	HPN	40248688	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.446000	0.97590	1.221000	0.43506	0.462000	0.41574	AGT		PASS	0.612	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		57	160	57	160	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39214345	39214345	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:39214345C>G	ENST00000252699.2	+	13	1610	c.1534C>G	c.(1534-1536)Cgc>Ggc	p.R512G	ACTN4_ENST00000424234.2_Missense_Mutation_p.R122G|ACTN4_ENST00000390009.3_Missense_Mutation_p.R293G	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	512					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R512G(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACACATAGTCGCAGGGAAGC	0.632																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)CGC>GGC		actinin, alpha 4							36.0	33.0	34.0					19																	39214345		2202	4300	6502	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214345C>G	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1534C>G	19.37:g.39214345C>G	ENSP00000252699:p.Arg512Gly					ACTN4_uc002ojb.1_5'Flank	p.R512G	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1593	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		512			Spectrin 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1534C>G	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809587	0.50421	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	T;T;T	0.63096	0.11;-0.02;0.11	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.80602	0.4654	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83773	0.0221	10	0.87932	D	0	.	10.5591	0.45135	0.1932:0.8068:0.0:0.0	.	512	O43707	ACTN4_HUMAN	G	512;122;293	ENSP00000252699:R512G;ENSP00000411187:R122G;ENSP00000439497:R293G	ENSP00000252699:R512G	R	+	1	0	ACTN4	43906185	0.898000	0.30612	1.000000	0.80357	0.978000	0.69477	1.831000	0.39141	2.176000	0.68965	0.561000	0.74099	CGC		PASS	0.632	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			9	27	9	27	---	---	---	---
MIA	8190	broad.mit.edu	37	19	41281516	41281516	+	Missense_Mutation	SNP	G	G	T	rs537467518		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:41281516G>T	ENST00000263369.3	+	1	235	c.69G>T	c.(67-69)agG>agT	p.R23S	MIA_ENST00000597784.1_Missense_Mutation_p.R23S|MIA_ENST00000594436.1_Missense_Mutation_p.R23S|RAB4B_ENST00000594800.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.R23S|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	23					cell proliferation (GO:0008283)	extracellular space (GO:0005615)		p.R23S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		CTGGTGTCAGGGGTGGTCCTA	0.617																																						uc002opb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)AGG>AGT		melanoma inhibitory activity precursor							143.0	119.0	127.0					19																	41281516		2203	4300	6503	SO:0001583	missense	8190				cell proliferation	extracellular space	growth factor activity	g.chr19:41281516G>T	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.69G>T	19.37:g.41281516G>T	ENSP00000263369:p.Arg23Ser					MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	p.R23S	NM_006533	NP_006524	Q16674	MIA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)	1	217	+			23					Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.69G>T	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482641	0.04383	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.42131	0.98	4.17	-6.22	0.02058	.	0.724090	0.10579	U	0.658138	T	0.11324	0.0276	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28933	-1.0028	10	0.09338	T	0.73	.	0.9029	0.01278	0.378:0.112:0.272:0.2381	.	23	Q16674	MIA_HUMAN	S	23	ENSP00000263369:R23S	ENSP00000263369:R23S	R	+	3	2	RAB4B	45973356	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.125000	0.01317	-1.016000	0.03371	0.561000	0.74099	AGG		PASS	0.617	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			78	147	78	147	---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42082643	42082643	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:42082643C>T	ENST00000401445.2	+	1	43	c.17C>T	c.(16-18)gCt>gTt	p.A6V	CEACAM21_ENST00000407170.2_Intron|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000187608.9_Missense_Mutation_p.A6V			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	6						integral component of membrane (GO:0016021)		p.A6V(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCCCCTCAGCTTGTCCCCAC	0.627																																						uc002ore.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16-18)GCT>GTT		carcinoembryonic antigen-related cell adhesion							45.0	46.0	46.0					19																	42082643		2203	4300	6503	SO:0001583	missense	90273					integral to membrane		g.chr19:42082643C>T	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.17C>T	19.37:g.42082643C>T	ENSP00000385739:p.Ala6Val					CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.A6V	p.A6V	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			1	113	+			6					B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.17C>T	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878559	0.51801	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.34072	1.38;1.38	2.26	1.18	0.20946	.	.	.	.	.	T	0.45875	0.1364	L	0.60455	1.87	0.09310	N	1	D;D	0.56035	0.972;0.974	P;P	0.61592	0.891;0.742	T	0.23048	-1.0199	9	0.59425	D	0.04	.	4.088	0.09957	0.0:0.783:0.0:0.217	.	6;6	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	V	6	ENSP00000187608:A6V;ENSP00000385739:A6V	ENSP00000187608:A6V	A	+	2	0	CEACAM21	46774483	0.000000	0.05858	0.013000	0.15412	0.231000	0.25187	-0.935000	0.03950	1.236000	0.43740	0.123000	0.15791	GCT		PASS	0.627	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		7	45	7	45	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42752782	42752782	+	Silent	SNP	G	G	A	rs138540323		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:42752782G>A	ENST00000222329.4	-	4	1639	c.1482C>T	c.(1480-1482)ctC>ctT	p.L494L	ERF_ENST00000440177.2_Silent_p.L419L|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	494					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.L494L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CACCCCCTTCGAGGCGACAGT	0.692																																						uc002ote.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1480-1482)CTC>CTT		Ets2 repressor factor							30.0	37.0	35.0					19																	42752782		2201	4297	6498	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752782G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1482C>T	19.37:g.42752782G>A						ERF_uc002otd.3_Silent_p.L225L	p.L494L	NM_006494	NP_006485	P50548	ERF_HUMAN			4	1640	-		Prostate(69;0.00682)	494					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.1482C>T	CCDS12600.1																																																																																				PASS	0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		38	95	38	95	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47570607	47570607	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:47570607A>T	ENST00000253048.5	-	15	2955	c.2918T>A	c.(2917-2919)tTc>tAc	p.F973Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	973							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F973Y(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGTGCGGGCGAAGCTGGGCTT	0.682																																						uc002pga.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(2917-2919)TTC>TAC		zinc finger CCCH-type containing 4							73.0	87.0	82.0					19																	47570607		2142	4237	6379	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570607A>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2918T>A	19.37:g.47570607A>T	ENSP00000253048:p.Phe973Tyr					ZC3H4_uc002pgb.1_Intron	p.F973Y	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2956	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	973					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2918T>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123570	0.77436	.	.	ENSG00000130749	ENST00000253048	T	0.59224	0.28	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.67397	2.05	0.50813	D	0.999898	D	0.71674	0.998	D	0.75484	0.986	T	0.76629	-0.2889	10	0.72032	D	0.01	.	14.2891	0.66265	1.0:0.0:0.0:0.0	.	973	Q9UPT8	ZC3H4_HUMAN	Y	973	ENSP00000253048:F973Y	ENSP00000253048:F973Y	F	-	2	0	ZC3H4	52262447	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	8.590000	0.90821	2.078000	0.62432	0.460000	0.39030	TTC		PASS	0.682	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			59	189	59	189	---	---	---	---
CEACAM18	729767	broad.mit.edu	37	19	51986552	51986552	+	Splice_Site	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:51986552T>G	ENST00000396477.4	+	4	974		c.e4+2		CEACAM18_ENST00000451626.1_Missense_Mutation_p.C380G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18									p.C380G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCCATGAGTGCAGCAGCTC	0.612																																						uc002pwv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1138-1140)TGC>GGC		carcinoembryonic antigen-related cell adhesion							55.0	57.0	56.0					19																	51986552		2128	4240	6368	SO:0001630	splice_region_variant	729767					integral to membrane		g.chr19:51986552T>G			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.953+2T>G	19.37:g.51986552T>G							p.C380G	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1138	+		all_neural(266;0.0529)	380					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.1138T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|.	7.578|7.578	0.668144|0.668144	0.14710|0.14710	.|.	.|.	ENSG00000213822|ENSG00000213822	ENST00000451086|ENST00000451626	.|T	.|0.05025	.|3.51	2.53|2.53	0.324|0.324	0.15898|0.15898	.|.	.|.	.|.	.|.	.|.	.|T	.|0.03095	.|0.0091	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.08055	.|0.003	.|T	.|0.47249	.|-0.9132	.|8	.|.	.|.	.|.	.|.	3.1508|3.1508	0.06488|0.06488	0.2408:0.0:0.2484:0.5107|0.2408:0.0:0.2484:0.5107	.|.	.|380	.|A8MTB9	.|CEA18_HUMAN	.|G	-1|380	.|ENSP00000402203:C380G	.|.	.|C	+|+	.|1	.|0	CEACAM18|CEACAM18	56678364|56678364	0.107000|0.107000	0.21998|0.21998	0.055000|0.055000	0.19348|0.19348	0.017000|0.017000	0.09413|0.09413	1.183000|1.183000	0.32041|0.32041	0.020000|0.020000	0.15106|0.15106	0.374000|0.374000	0.22700|0.22700	.|TGC		PASS	0.612	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		Intron	18	46	18	46	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618417	52618417	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:52618417C>A	ENST00000600228.1	-	4	2261	c.2000G>T	c.(1999-2001)gGc>gTc	p.G667V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	667					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.G667V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AAAGGTTTTGCCACACTCATT	0.403																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)GGC>GTC		zinc finger protein 616							144.0	136.0	138.0					19																	52618417		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618417C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2000G>T	19.37:g.52618417C>A	ENSP00000471000:p.Gly667Val					ZNF616_uc002pyn.2_RNA	p.G667V	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2283	-			667			C2H2-type 18.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2000G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487895	0.44249	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.08	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80773	0.4687	H	0.96015	3.755	0.44539	D	0.997496	D	0.89917	1.0	D	0.85130	0.997	T	0.75915	-0.3149	8	0.87932	D	0	.	4.7196	0.12912	0.2605:0.6102:0.0:0.1292	.	667	Q08AN1	ZN616_HUMAN	V	667	.	ENSP00000328722:G667V	G	-	2	0	ZNF616	57310229	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.140000	0.16056	-0.384000	0.07845	0.484000	0.47621	GGC		PASS	0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		75	310	75	310	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54973315	54973315	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:54973315C>T	ENST00000333834.4	-	1	1579	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	487							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.R465R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCCCCCCTGTCCTCCCTATAC	0.627																																						uc010yez.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1459-1461)AGG>AGA		leukocyte receptor cluster (LRC) member 9							50.0	58.0	55.0					19																	54973315		2203	4300	6503	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973315C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1461G>A	19.37:g.54973315C>T							p.R487R	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1580	-	Ovarian(34;0.19)		487					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.1461G>A	CCDS12895.2																																																																																				PASS	0.627	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		48	105	48	105	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56490903	56490903	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:56490903G>A	ENST00000291971.3	+	9	3091	c.3020G>A	c.(3019-3021)aGc>aAc	p.S1007N	NLRP8_ENST00000590542.1_Missense_Mutation_p.S988N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1007					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S1007N(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCTTCTCAAGCCAAAAGAAG	0.473																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(3019-3021)AGC>AAC		NLR family, pyrin domain containing 8							107.0	104.0	105.0					19																	56490903		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56490903G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.3020G>A	19.37:g.56490903G>A	ENSP00000291971:p.Ser1007Asn					NLRP8_uc010etg.2_Missense_Mutation_p.S988N	p.S1007N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	3091	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	1007			LRR 6.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.3020G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328527	0.01309	.	.	ENSG00000179709	ENST00000291971	T	0.52754	0.65	1.63	0.339	0.15979	.	.	.	.	.	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B;B	0.29716	0.12;0.255	B;B	0.30572	0.117;0.048	T	0.25222	-1.0138	9	0.05436	T	0.98	.	3.0797	0.06258	0.5409:0.0:0.4591:0.0	.	988;1007	Q86W28-2;Q86W28	.;NALP8_HUMAN	N	1007	ENSP00000291971:S1007N	ENSP00000291971:S1007N	S	+	2	0	NLRP8	61182715	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.197000	0.17197	0.103000	0.17682	0.508000	0.49915	AGC		PASS	0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		64	147	64	147	---	---	---	---
ZNF582	147948	broad.mit.edu	37	19	56895310	56895310	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:56895310G>A	ENST00000301310.4	-	5	1634	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y	ZNF582_ENST00000586929.1_Silent_p.Y492Y	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	492					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.Y492Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTAGTAAGGGGTAACTGCTGA	0.388																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1474-1476)TAC>TAT		zinc finger protein 582							227.0	220.0	222.0					19																	56895310		2203	4300	6503	SO:0001819	synonymous_variant	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895310G>A	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1476C>T	19.37:g.56895310G>A						ZNF582_uc002qmy.2_Silent_p.Y523Y	p.Y492Y	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1635	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	492					B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	37	c.1476C>T	CCDS33121.1																																																																																				PASS	0.388	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		112	279	112	279	---	---	---	---
ZNF17	7565	broad.mit.edu	37	19	57932022	57932022	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:57932022T>A	ENST00000601808.1	+	3	1375	c.1162T>A	c.(1162-1164)Tgc>Agc	p.C388S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.C390S	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	388					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.C388S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACCTTATGAATGCAACGAATG	0.393																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1162-1164)TGC>AGC		zinc finger protein 17							86.0	89.0	88.0					19																	57932022		2189	4296	6485	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932022T>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1162T>A	19.37:g.57932022T>A	ENSP00000471905:p.Cys388Ser					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.C390S	p.C388S	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	1393	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	388			C2H2-type 8.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1162T>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.416207	0.62511	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77665	0.4164	H	0.95043	3.615	0.20403	N	0.999903	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64347	-0.6429	8	0.87932	D	0	.	8.8887	0.35420	0.0:0.0:0.0:1.0	.	390;388	P17021-2;P17021	.;ZNF17_HUMAN	S	388	.	ENSP00000302455:C388S	C	+	1	0	ZNF17	62623834	0.998000	0.40836	0.003000	0.11579	0.369000	0.29798	3.798000	0.55522	1.068000	0.40764	0.477000	0.44152	TGC		PASS	0.393	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		62	173	62	173	---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806661	58806661	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr19:58806661A>T	ENST00000196548.5	+	4	1618	c.1487A>T	c.(1486-1488)cAt>cTt	p.H496L	ZNF8_ENST00000608843.1_Missense_Mutation_p.H496L|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	496					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H496L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAGCAGCCCCATGGGCGAAGC	0.552																																						uc002qry.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1486-1488)CAT>CTT		zinc finger protein 8							119.0	135.0	130.0					19																	58806661		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806661A>T	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1487A>T	19.37:g.58806661A>T	ENSP00000196548:p.His496Leu					ZNF8_uc002qrz.2_RNA	p.H496L	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1617	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	496					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1487A>T	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	A	9.352	1.065764	0.20067	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.05855	3.38	4.13	-8.27	0.01017	.	1.887620	0.02536	N	0.094102	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41070	-0.9529	10	0.72032	D	0.01	0.0634	3.8542	0.08968	0.5405:0.2061:0.1493:0.1042	.	496	P17098	ZNF8_HUMAN	L	496;211	ENSP00000196548:H496L	ENSP00000196548:H496L	H	+	2	0	ZNF8	63498473	.	.	0.000000	0.03702	0.058000	0.15608	.	.	-1.756000	0.01318	-2.504000	0.00190	CAT		PASS	0.552	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		95	291	95	291	---	---	---	---
DEFB127	140850	broad.mit.edu	37	20	139602	139602	+	Silent	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:139602G>T	ENST00000382388.3	+	2	312	c.237G>T	c.(235-237)ctG>ctT	p.L79L		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	79					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)		p.L79L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CACTTGCACTGACTCTTCAAG	0.373																																						uc002wcy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(235-237)CTG>CTT		defensin, beta 127 preproprotein							92.0	80.0	84.0					20																	139602		2203	4300	6503	SO:0001819	synonymous_variant	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:139602G>T	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.237G>T	20.37:g.139602G>T							p.L79L	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	237	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	79					Q14DW7	Silent	SNP	ENST00000382388.3	37	c.237G>T	CCDS12991.1																																																																																				PASS	0.373	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		37	95	37	95	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161519	1161519	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:1161519C>A	ENST00000381894.3	-	2	1415	c.744G>T	c.(742-744)gaG>gaT	p.E248D	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	248						integral component of membrane (GO:0016021)		p.E248D(1)									TGTGGCTAGTCTCTGAGACCT	0.582																																						uc010gaa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)GAG>GAT		hypothetical protein LOC55321							71.0	61.0	65.0					20																	1161519		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161519C>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.744G>T	20.37:g.1161519C>A	ENSP00000371318:p.Glu248Asp					C20orf46_uc002weq.1_Missense_Mutation_p.E248D	p.E248D	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	963	-			248					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.744G>T	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647602	0.14516	.	.	ENSG00000125895	ENST00000381894	T	0.48201	0.82	4.26	3.32	0.38043	.	0.000000	0.44902	D	0.000402	T	0.35278	0.0926	L	0.51422	1.61	0.28819	N	0.897792	B	0.17667	0.023	B	0.16289	0.015	T	0.18085	-1.0348	10	0.22706	T	0.39	-0.3469	5.2339	0.15436	0.2014:0.6928:0.0:0.1058	.	248	Q9NUR3	CT046_HUMAN	D	248	ENSP00000371318:E248D	ENSP00000371318:E248D	E	-	3	2	C20orf46	1109519	0.947000	0.32204	1.000000	0.80357	0.457000	0.32468	0.337000	0.19841	0.996000	0.38943	-0.140000	0.14226	GAG		PASS	0.582	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		32	45	32	45	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2375159	2375159	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:2375159G>A	ENST00000202625.2	+	2	130	c.69G>A	c.(67-69)caG>caA	p.Q23Q	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.Q23Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	23					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.Q23Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACCACACCCAGGAGTACCCCT	0.642																																						uc002wfy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(67-69)CAG>CAA		transglutaminase 6	L-Glutamine(DB00130)						43.0	38.0	40.0					20																	2375159		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375159G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.69G>A	20.37:g.2375159G>A						TGM6_uc010gal.1_Silent_p.Q23Q	p.Q23Q	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	130	+			23					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.69G>A	CCDS13025.1																																																																																				PASS	0.642	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		10	44	10	44	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022550	31022550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:31022550G>T	ENST00000375687.4	+	13	2459	c.2035G>T	c.(2035-2037)Gga>Tga	p.G679*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.G674*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	679	Gly-rich.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P677fs*35(1)|p.G679*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGAGCCCAGGGGAGGCCCGAG	0.647			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		2	Substitution - Nonsense(1)|Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(2035-2037)GGA>TGA		additional sex combs like 1 isoform 1							27.0	26.0	26.0					20																	31022550		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022550G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2035G>T	20.37:g.31022550G>T	ENSP00000364839:p.Gly679*					ASXL1_uc010geb.2_Nonsense_Mutation_p.G570*	p.G679*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2461	+			679			Gly-rich.		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.2035G>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	41	8.664022	0.98905	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.55	5.55	0.83447	.	0.055769	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.3949	5.5348	0.17005	0.1523:0.18:0.6677:0.0	.	.	.	.	X	679;679;679;600;674	.	ENSP00000305119:G674X	G	+	1	0	ASXL1	30486211	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.658000	0.54482	2.894000	0.99253	0.655000	0.94253	GGA		PASS	0.647	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		6	23	6	23	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35154325	35154325	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:35154325C>T	ENST00000373907.2	+	11	2875	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	DLGAP4_ENST00000373913.3_Silent_p.I889I|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000340491.4_Silent_p.I353I|DLGAP4_ENST00000339266.5_Silent_p.I892I|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.I889I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	892					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.I889I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCTGTCCATCGAGGATATCA	0.602																																						uc002xff.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2665-2667)ATC>ATT		disks large-associated protein 4 isoform a							91.0	85.0	87.0					20																	35154325		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35154325C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2676C>T	20.37:g.35154325C>T						DLGAP4_uc010zvp.1_Silent_p.I889I|DLGAP4_uc002xfg.2_Silent_p.I185I|DLGAP4_uc002xfh.2_Silent_p.I353I|DLGAP4_uc002xfi.2_Silent_p.I198I|DLGAP4_uc002xfj.2_Silent_p.I185I|uc002xfk.3_Intron	p.I889I	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			12	3102	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	892					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.2667C>T																																																																																					PASS	0.602	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		48	142	48	142	---	---	---	---
SGK2	10110	broad.mit.edu	37	20	42195738	42195738	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:42195738G>T	ENST00000341458.4	+	2	466	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	SGK2_ENST00000373100.1_Missense_Mutation_p.G23W|SGK2_ENST00000373077.1_Missense_Mutation_p.G23W|SGK2_ENST00000423407.3_Missense_Mutation_p.G23W|SGK2_ENST00000426287.1_Missense_Mutation_p.G49W|SGK2_ENST00000373092.3_Missense_Mutation_p.G23W	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	83					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.G83W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CATCAACCTGGGGCCTTCAGC	0.532																																						uc002xkv.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(247-249)GGG>TGG		serum/glucocorticoid regulated kinase 2 isoform							106.0	106.0	106.0					20																	42195738		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42195738G>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.247G>T	20.37:g.42195738G>T	ENSP00000340608:p.Gly83Trp					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.G23W|SGK2_uc010ggm.2_Missense_Mutation_p.G23W|SGK2_uc002xks.2_Missense_Mutation_p.G23W|SGK2_uc002xku.2_Missense_Mutation_p.G23W|SGK2_uc002xkq.1_Missense_Mutation_p.G23W	p.G83W	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		2	466	+		Myeloproliferative disorder(115;0.00452)	83					Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.247G>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103447	0.76983	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.72505	-0.62;-0.62;-0.61;-0.03;-0.62;-0.66;-0.62	4.59	4.59	0.56863	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.97110	1.0;0.965;0.978	T	0.79264	-0.1875	10	0.87932	D	0	.	15.697	0.77509	0.0:0.0:1.0:0.0	.	49;83;23	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	W	23;23;23;23;23;83;49	ENSP00000362192:G23W;ENSP00000362184:G23W;ENSP00000362168:G23W;ENSP00000396222:G23W;ENSP00000392795:G23W;ENSP00000340608:G83W;ENSP00000412214:G49W	ENSP00000340608:G83W	G	+	1	0	SGK2	41629152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.044000	0.93805	2.474000	0.83562	0.609000	0.83330	GGG		PASS	0.532	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			28	79	28	79	---	---	---	---
RIMS4	140730	broad.mit.edu	37	20	43378866	43378866	+	IGR	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:43378866G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.S127I	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.S127I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTTCCAGAGCCTGGGCGAA	0.672																																						uc002xmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)AGC>ATC		potassium family, subfamily K, member 15							32.0	29.0	30.0					20																	43378866		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378866G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378866G>T							p.S127I	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	444	+		Myeloproliferative disorder(115;0.0122)	127			Helical; (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.380G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238768	0.79800	.	.	ENSG00000124249	ENST00000372861	D	0.97850	-4.57	4.08	3.13	0.36017	Ion transport 2 (1);	0.050837	0.85682	U	0.000000	D	0.98254	0.9422	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98505	1.0616	10	0.87932	D	0	.	11.7315	0.51739	0.0863:0.0:0.9137:0.0	.	127	Q9H427	KCNKF_HUMAN	I	127	ENSP00000361952:S127I	ENSP00000361952:S127I	S	+	2	0	KCNK15	42812280	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.543000	0.98089	0.927000	0.37143	-0.136000	0.14681	AGC		PASS	0.672	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		4	25	4	25	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266696	47266696	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:47266696G>A	ENST00000371941.3	-	24	2888	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	PREX1_ENST00000396220.1_Missense_Mutation_p.P956S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	956					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P956S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCTCCAGGGGGGCTTGTTTG	0.592																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(2866-2868)CCC>TCC		phosphatidylinositol-3,4,							68.0	78.0	75.0					20																	47266696		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266696G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2866C>T	20.37:g.47266696G>A	ENSP00000361009:p.Pro956Ser					PREX1_uc002xtv.1_Missense_Mutation_p.P253S	p.P956S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2889	-			956					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2866C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.177085	0.01633	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.35421	1.31;1.31	5.71	-11.4	0.00090	.	1.157030	0.06708	N	0.772696	T	0.08492	0.0211	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.09975	-1.0650	10	0.06099	T	0.92	.	1.1853	0.01854	0.283:0.2997:0.2255:0.1918	.	956;253	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	S	956	ENSP00000361009:P956S;ENSP00000379522:P956S	ENSP00000361009:P956S	P	-	1	0	PREX1	46700103	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.025000	0.03600	-2.838000	0.00336	-0.962000	0.02626	CCC		PASS	0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		57	159	57	159	---	---	---	---
CTSZ	1522	broad.mit.edu	37	20	57581398	57581398	+	Missense_Mutation	SNP	C	C	T	rs368487798		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:57581398C>T	ENST00000217131.5	-	2	404	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	96					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.A96T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			CTGGTGCTGGCGTGGGCCCAG	0.647																																						uc002yai.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(286-288)GCC>ACC		cathepsin Z preproprotein							43.0	34.0	37.0					20																	57581398		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57581398C>T	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.286G>A	20.37:g.57581398C>T	ENSP00000217131:p.Ala96Thr					CTSZ_uc002yaj.3_Missense_Mutation_p.A96T	p.A96T	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		2	412	-	all_lung(29;0.00711)		96					B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.286G>A	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198172	0.94997	.	.	ENSG00000101160	ENST00000217131	T	0.59364	0.27	5.29	4.35	0.52113	Peptidase C1A, papain C-terminal (3);	0.102259	0.64402	D	0.000003	T	0.73628	0.3611	M	0.75884	2.315	0.33905	D	0.639022	D;D	0.76494	0.999;0.985	D;P	0.67548	0.952;0.816	D	0.83595	0.0125	10	0.87932	D	0	.	13.8483	0.63481	0.0:0.9264:0.0:0.0736	.	96;96	Q5U000;Q9UBR2	.;CATZ_HUMAN	T	96	ENSP00000217131:A96T	ENSP00000217131:A96T	A	-	1	0	CTSZ	57014793	1.000000	0.71417	0.988000	0.46212	0.657000	0.38888	7.399000	0.79935	1.232000	0.43678	-0.136000	0.14681	GCC		PASS	0.647	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		6	16	6	16	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62076601	62076601	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr20:62076601G>A	ENST00000359125.2	-	3	678	c.504C>T	c.(502-504)ttC>ttT	p.F168F	KCNQ2_ENST00000370224.1_Silent_p.F168F|KCNQ2_ENST00000360480.3_Silent_p.F168F|KCNQ2_ENST00000357249.2_Silent_p.F168F|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000344462.4_Silent_p.F168F|KCNQ2_ENST00000354587.3_Silent_p.F168F|KCNQ2_ENST00000344425.5_Silent_p.F168F|KCNQ2_ENST00000359689.1_Silent_p.F168F	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	168					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F168F(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAATCACACAGAACGGTTTCC	0.657																																						uc002yey.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(502-504)TTC>TTT		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						80.0	77.0	78.0					20																	62076601		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62076601G>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.504C>T	20.37:g.62076601G>A						KCNQ2_uc002yez.1_Silent_p.F168F|KCNQ2_uc002yfa.1_Silent_p.F168F|KCNQ2_uc002yfb.1_Silent_p.F168F|KCNQ2_uc011aax.1_Silent_p.F168F|KCNQ2_uc002yfc.1_Silent_p.F168F	p.F168F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		3	681	-	all_cancers(38;1.24e-11)		168			Helical; Name=Segment S3; (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.504C>T	CCDS13520.1																																																																																				PASS	0.657	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		27	45	27	45	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746235	22746235	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:22746235A>T	ENST00000400546.1	+	9	1346	c.1097A>T	c.(1096-1098)cAt>cTt	p.H366L	NCAM2_ENST00000284894.7_Missense_Mutation_p.H224L|NCAM2_ENST00000535285.1_Missense_Mutation_p.H391L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	366	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H366L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATCACTGCATATTAAAGAT	0.428																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1096-1098)CAT>CTT		neural cell adhesion molecule 2 precursor							160.0	152.0	154.0					21																	22746235		1936	4128	6064	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746235A>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1097A>T	21.37:g.22746235A>T	ENSP00000383392:p.His366Leu					NCAM2_uc011acb.1_Missense_Mutation_p.H224L|NCAM2_uc011acc.1_Missense_Mutation_p.H391L	p.H366L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1346	+		Lung NSC(9;0.195)	366			Ig-like C2-type 4.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1097A>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262367	0.59431	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.65732	1.78;1.78;-0.17	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.189081	0.56097	D	0.000029	T	0.46112	0.1376	N	0.13098	0.295	0.50171	D	0.99985	B;B;B	0.20459	0.017;0.045;0.045	B;B;B	0.20184	0.019;0.028;0.017	T	0.37361	-0.9709	10	0.30078	T	0.28	-13.1542	14.5627	0.68151	1.0:0.0:0.0:0.0	.	391;224;366	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	L	366;224;391	ENSP00000383392:H366L;ENSP00000284894:H224L;ENSP00000441887:H391L	ENSP00000284894:H224L	H	+	2	0	NCAM2	21668106	1.000000	0.71417	0.943000	0.38184	0.994000	0.84299	5.281000	0.65609	2.116000	0.64780	0.524000	0.50904	CAT		PASS	0.428	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		59	145	59	145	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22804459	22804459	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:22804459C>A	ENST00000400546.1	+	12	1761	c.1512C>A	c.(1510-1512)atC>atA	p.I504I	NCAM2_ENST00000284894.7_Silent_p.I362I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	504	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I504I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAGTGAAGATCATAGAGCTGT	0.448																																						uc002yld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1510-1512)ATC>ATA		neural cell adhesion molecule 2 precursor							71.0	67.0	68.0					21																	22804459		1923	4132	6055	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804459C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1512C>A	21.37:g.22804459C>A						NCAM2_uc011acb.1_Silent_p.I362I	p.I504I	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1761	+		Lung NSC(9;0.195)	504			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1512C>A	CCDS42910.1																																																																																				PASS	0.448	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		39	98	39	98	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22910194	22910194	+	Silent	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:22910194G>A	ENST00000400546.1	+	18	2679	c.2430G>A	c.(2428-2430)ggG>ggA	p.G810G	NCAM2_ENST00000284894.7_Silent_p.G668G	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	810					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G810G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGAAGATGGGAAAGAAGCTC	0.323																																						uc002yld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2428-2430)GGG>GGA		neural cell adhesion molecule 2 precursor							56.0	57.0	56.0					21																	22910194		1808	4060	5868	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22910194G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2430G>A	21.37:g.22910194G>A						NCAM2_uc011acb.1_Silent_p.G668G	p.G810G	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	18	2679	+		Lung NSC(9;0.195)	810			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.2430G>A	CCDS42910.1																																																																																				PASS	0.323	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	141	7	141	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43248563	43248563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:43248563C>A	ENST00000269844.3	-	19	2701	c.2591G>T	c.(2590-2592)cGc>cTc	p.R864L	PRDM15_ENST00000398548.1_Missense_Mutation_p.R535L|PRDM15_ENST00000447207.2_Missense_Mutation_p.R498L|PRDM15_ENST00000538201.1_Missense_Mutation_p.R518L|PRDM15_ENST00000422911.1_Missense_Mutation_p.R555L	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R864L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACGTCCTTGCGGTAGAACAT	0.612																																						uc002yzq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2590-2592)CGC>CTC		PR domain containing 15 isoform 1							294.0	248.0	264.0					21																	43248563		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43248563C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2591G>T	21.37:g.43248563C>A	ENSP00000269844:p.Arg864Leu					PRDM15_uc002yzo.2_Missense_Mutation_p.R535L|PRDM15_uc002yzp.2_Missense_Mutation_p.R555L|PRDM15_uc002yzr.1_Missense_Mutation_p.R555L	p.R864L	NM_022115	NP_071398	P57071	PRD15_HUMAN			19	2702	-			864			C2H2-type 5.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2591G>T	CCDS13676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	31|31	5.073211|5.073211	0.94000|0.94000	.|.	.|.	ENSG00000141956|ENSG00000141956	ENST00000380489|ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.|T;T;T;T;T	.|0.28069	.|1.63;1.63;1.63;1.63;1.63	4.46|4.46	4.46|4.46	0.54185|0.54185	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.37897|0.37897	1.145|1.145	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.997;0.999	T|T	0.45571|0.45571	-0.9252|-0.9252	6|9	0.05351|0.54805	T|T	0.99|0.06	-10.3847|-10.3847	16.4845|16.4845	0.84181|0.84181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|864;555;535	.|P57071;E9PDJ6;E9PF37	.|PRD15_HUMAN;.;.	S|L	501|555;535;518;498;864	.|ENSP00000408592:R555L;ENSP00000381556:R535L;ENSP00000444044:R518L;ENSP00000390245:R498L;ENSP00000269844:R864L	ENSP00000369856:A501S|ENSP00000269844:R864L	A|R	-|-	1|2	0|0	PRDM15|PRDM15	42121632|42121632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.251000|7.251000	0.78297|0.78297	2.186000|2.186000	0.69663|0.69663	0.556000|0.556000	0.70494|0.70494	GCA|CGC		PASS	0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		115	255	115	255	---	---	---	---
KRTAP10-10	353333	broad.mit.edu	37	21	46057812	46057812	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:46057812G>T	ENST00000380095.1	+	1	540	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	160	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.V160L(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTATGTGCCTGTGTGCTCTGG	0.627																																						uc002zfq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GTG>TTG		keratin associated protein 10-10							265.0	242.0	250.0					21																	46057812		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057812G>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.478G>T	21.37:g.46057812G>T	ENSP00000369438:p.Val160Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V160L	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	540	+			160			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.478G>T	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	1.688	-0.504852	0.04261	.	.	ENSG00000221859	ENST00000380095	T	0.01430	4.9	3.27	-5.83	0.02325	.	.	.	.	.	T	0.02418	0.0074	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.23574	0.047	T	0.35425	-0.9789	9	0.48119	T	0.1	.	5.6534	0.17629	0.4886:0.0:0.3842:0.1272	.	160	P60014	KR10A_HUMAN	L	160	ENSP00000369438:V160L	ENSP00000369438:V160L	V	+	1	0	KRTAP10-10	44882240	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.706000	0.05047	-1.135000	0.02895	-1.455000	0.01032	GTG		PASS	0.627	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		111	291	111	291	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46932158	46932158	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr21:46932158G>A	ENST00000359759.4	+	41	5132	c.5111G>A	c.(5110-5112)aGc>aAc	p.S1704N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S1289N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S1469N|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1704	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.S1469N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGACCGAGAGCTACTGTGAG	0.701																																						uc011afs.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(5101-5103)AGC>AAC		alpha 1 type XVIII collagen isoform 3 precursor							19.0	24.0	23.0					21																	46932158		2103	4200	6303	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932158G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5111G>A	21.37:g.46932158G>A	ENSP00000352798:p.Ser1704Asn					COL18A1_uc002zhg.2_Missense_Mutation_p.S1286N|COL18A1_uc002zhi.2_Missense_Mutation_p.S1466N|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.S267N|COL18A1_uc002zhk.2_Missense_Mutation_p.S111N	p.S1701N	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	42	5123	+			1704			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.5102G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.836|9.836	1.189693|1.189693	0.21954|0.21954	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000423214|ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.|T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93	4.22|4.22	3.32|3.32	0.38043|0.38043	.|Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	.|0.300659	.|0.35525	.|U	.|0.003155	T|T	0.29158|0.29158	0.0725|0.0725	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25955	.|0.138;0.001;0.052;0.052	.|B;B;B;B	.|0.30646	.|0.118;0.004;0.019;0.019	T|T	0.05750|0.05750	-1.0866|-1.0866	5|10	.|0.16896	.|T	.|0.51	.|.	10.4712|10.4712	0.44638|0.44638	0.099:0.0:0.901:0.0|0.099:0.0:0.901:0.0	.|.	.|1704;1286;1469;1289	.|P39060;D3DSM4;P39060-1;P39060-2	.|COIA1_HUMAN;.;.;.	T|N	274|1289;1289;1469;1704;1704;637	.|ENSP00000383191:S1289N;ENSP00000347665:S1469N;ENSP00000352798:S1704N;ENSP00000339118:S637N	.|ENSP00000339118:S637N	A|S	+|+	1|2	0|0	COL18A1|COL18A1	45756586|45756586	0.994000|0.994000	0.37717|0.37717	0.997000|0.997000	0.53966|0.53966	0.282000|0.282000	0.26991|0.26991	0.635000|0.635000	0.24629|0.24629	2.089000|2.089000	0.63090|0.63090	0.478000|0.478000	0.44815|0.44815	GCT|AGC		PASS	0.701	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	5	7	5	---	---	---	---
GSC2	2928	broad.mit.edu	37	22	19136551	19136551	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr22:19136551C>A	ENST00000086933.2	-	3	570	c.571G>T	c.(571-573)Gcg>Tcg	p.A191S		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	191					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A191S(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					AGGAGCCTCGCGGAAGCCGAC	0.652																																						uc011ags.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GCG>TCG		goosecoid homeobox 2							9.0	10.0	10.0					22																	19136551		2182	4268	6450	SO:0001583	missense	2928				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19136551C>A		CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"""Homeoboxes / PRD class"""	4613	protein-coding gene	gene with protein product		601845	"""goosecoid-like"""	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.571G>T	22.37:g.19136551C>A	ENSP00000086933:p.Ala191Ser						p.A191S	NM_005315	NP_005306	O15499	GSC2_HUMAN			3	571	-	Colorectal(54;0.0993)		191						Missense_Mutation	SNP	ENST00000086933.2	37	c.571G>T	CCDS13757.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.058020	0.19987	.	.	ENSG00000063515	ENST00000086933	D	0.91464	-2.85	4.08	-4.88	0.03113	Homeodomain-like (1);	0.503387	0.19616	N	0.110015	T	0.73257	0.3564	N	0.21373	0.66	0.09310	N	1	B	0.27823	0.19	B	0.19946	0.027	T	0.68284	-0.5449	10	0.06365	T	0.9	-0.58	4.7912	0.13250	0.3617:0.4062:0.0:0.2322	.	191	O15499	GSC2_HUMAN	S	191	ENSP00000086933:A191S	ENSP00000086933:A191S	A	-	1	0	GSC2	17516551	0.009000	0.17119	0.000000	0.03702	0.122000	0.20287	0.459000	0.21908	-0.761000	0.04670	-0.463000	0.05309	GCG		PASS	0.652	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316440.2	NM_005315		3	11	3	11	---	---	---	---
GNB1L	54584	broad.mit.edu	37	22	19799846	19799846	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr22:19799846G>A	ENST00000329517.6	-	5	615	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	GNB1L_ENST00000405009.1_Missense_Mutation_p.R127C|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.R127C	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	127					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.R127C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGCGTCCAGCGTGGCTGGCCC	0.662																																						uc002zqe.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(379-381)CGC>TGC		guanine nucleotide binding protein							30.0	29.0	29.0					22																	19799846		2201	4297	6498	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19799846G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.379C>T	22.37:g.19799846G>A	ENSP00000331313:p.Arg127Cys					GNB1L_uc002zqd.1_Translation_Start_Site|GNB1L_uc002zqf.1_Missense_Mutation_p.R127C	p.R127C	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			4	773	-	Colorectal(54;0.0993)		127					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.379C>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434501	0.12045	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	T;T;T;T	0.62941	1.09;1.09;-0.01;0.43	4.72	1.62	0.23740	WD40 repeat-like-containing domain (1);	0.877838	0.09690	N	0.768546	T	0.50274	0.1606	L	0.41961	1.31	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.44877	-0.9299	10	0.54805	T	0.06	-19.4463	5.2031	0.15275	0.2599:0.0:0.5856:0.1546	.	127	Q9BYB4	GNB1L_HUMAN	C	127;127;127;85	ENSP00000331313:R127C;ENSP00000385154:R127C;ENSP00000384626:R127C;ENSP00000389412:R85C	ENSP00000331313:R127C	R	-	1	0	GNB1L	18179846	0.010000	0.17322	0.116000	0.21606	0.072000	0.16883	1.516000	0.35856	0.656000	0.30886	0.563000	0.77884	CGC		PASS	0.662	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			3	30	3	30	---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800819	21800819	+	Silent	SNP	C	C	T	rs375831454		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr22:21800819C>T	ENST00000443632.2	+	2	2007	c.1635C>T	c.(1633-1635)cgC>cgT	p.R545R	HIC2_ENST00000407464.2_Silent_p.R545R|HIC2_ENST00000407598.2_Silent_p.R545R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	545					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R545R(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCACGCAGCGCGGCACCATGA	0.637																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1633-1635)CGC>CGT		hypermethylated in cancer 2		C		1,4405	2.1+/-5.4	0,1,2202	69.0	62.0	64.0		1635	-8.7	0.8	22		64	0,8600		0,0,4300	no	coding-synonymous	HIC2	NM_015094.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		545/616	21800819	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800819C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1635C>T	22.37:g.21800819C>T						HIC2_uc002zus.3_Silent_p.R545R	p.R545R	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	1865	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	545			C2H2-type 3.		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1635C>T	CCDS13789.1																																																																																				PASS	0.637	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			11	61	11	61	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50665440	50665440	+	Silent	SNP	G	G	A	rs145215576		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr22:50665440G>A	ENST00000248846.5	-	6	1583	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.A493A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	493					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.A493A(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGGAAACGCGGCCCTGGGGC	0.687																																						uc003bkb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1477-1479)GCC>GCT		tubulin, gamma complex associated protein 6		G		1,4383		0,1,2191	25.0	27.0	27.0		1479	-6.6	0.0	22	dbSNP_134	27	0,8590		0,0,4295	no	coding-synonymous	TUBGCP6	NM_020461.3		0,1,6486	AA,AG,GG		0.0,0.0228,0.0077		493/1820	50665440	1,12973	2192	4295	6487	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50665440G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1479C>T	22.37:g.50665440G>A						TUBGCP6_uc010har.1_Silent_p.A493A|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank	p.A493A	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	1991	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	493					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1479C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833399	0.16820	2.28E-4	0.0	ENSG00000128159	ENST00000434349	.	.	.	4.95	-6.6	0.01824	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.22457	N	0.999088	.	.	.	.	.	.	T	0.33317	-0.9873	4	.	.	.	.	8.5517	0.33455	0.1637:0.1152:0.6082:0.1129	.	.	.	.	L	237	.	.	P	-	2	0	TUBGCP6	49007567	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-1.794000	0.01753	-1.407000	0.02043	-1.267000	0.01435	CCG		PASS	0.687	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		5	9	5	9	---	---	---	---
GYG2	8908	broad.mit.edu	37	X	2773036	2773036	+	Silent	SNP	G	G	T	rs375591201		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:2773036G>T	ENST00000381163.3	+	6	702	c.420G>T	c.(418-420)gtG>gtT	p.V140V	GYG2_ENST00000542787.1_Silent_p.V140V|GYG2_ENST00000381161.1_3'UTR|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Silent_p.V109V|GYG2_ENST00000338623.5_Silent_p.V140V	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	140					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.V140V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCACCAGGTGCTGTCCAATG	0.552																																						uc004cqs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(418-420)GTG>GTT		glycogenin 2 isoform b							108.0	91.0	97.0					X																	2773036		2203	4299	6502	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2773036G>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.420G>T	X.37:g.2773036G>T						GYG2_uc004cqt.1_Silent_p.V109V|GYG2_uc004cqu.1_Silent_p.V109V|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Silent_p.V100V|GYG2_uc004cqx.1_Silent_p.V109V|GYG2_uc010ndc.1_5'UTR	p.V140V	NM_003918	NP_003909	O15488	GLYG2_HUMAN			6	702	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	140					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.420G>T	CCDS14121.1																																																																																				PASS	0.552	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		39	19	39	19	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29959823	29959823	+	Silent	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:29959823T>G	ENST00000378993.1	+	9	1786	c.1113T>G	c.(1111-1113)ctT>ctG	p.L371L	IL1RAPL1_ENST00000302196.4_Silent_p.L371L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	371					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.L371L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTTGCTGCTTGTATGTTTGG	0.413																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1111-1113)CTT>CTG		interleukin 1 receptor accessory protein-like 1							270.0	222.0	238.0					X																	29959823		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29959823T>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1113T>G	X.37:g.29959823T>G							p.L371L	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			9	1621	+			371			Helical; (Potential).		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1113T>G	CCDS14218.1																																																																																				PASS	0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		128	129	128	129	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927259	92927259	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:92927259T>G	ENST00000373079.3	-	1	1308	c.1045A>C	c.(1045-1047)Aaa>Caa	p.K349Q	NAP1L3_ENST00000475430.2_Missense_Mutation_p.K342Q|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	349					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.K349Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TGGCCAGGTTTTGAGAACTTC	0.403																																						uc004efq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1045-1047)AAA>CAA		nucleosome assembly protein 1-like 3							47.0	43.0	44.0					X																	92927259		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927259T>G		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1045A>C	X.37:g.92927259T>G	ENSP00000362171:p.Lys349Gln					FAM133A_uc004efr.1_5'Flank	p.K349Q	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1350	-			349					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1045A>C	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.570358	0.45798	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26223	1.75	3.46	2.29	0.28610	.	0.207938	0.49305	D	0.000159	T	0.24353	0.0590	L	0.27053	0.805	0.23254	N	0.998034	D	0.64830	0.994	P	0.56751	0.805	T	0.04495	-1.0947	10	0.38643	T	0.18	.	4.5748	0.12228	0.0:0.2793:0.0:0.7206	.	349	Q99457	NP1L3_HUMAN	Q	349;342	ENSP00000362171:K349Q	ENSP00000362171:K349Q	K	-	1	0	NAP1L3	92813915	1.000000	0.71417	0.983000	0.44433	0.879000	0.50718	1.092000	0.30927	0.544000	0.28883	0.430000	0.28490	AAA		PASS	0.403	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		38	38	38	38	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181718	120181718	+	Silent	SNP	C	C	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:120181718C>A	ENST00000328078.1	+	1	257	c.180C>A	c.(178-180)cgC>cgA	p.R60R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	60					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.R60R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TGGCCGACCGCGAGGACGACC	0.692																																						uc004eto.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(178-180)CGC>CGA		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						43.0	42.0	42.0					X																	120181718		2202	4295	6497	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181718C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.180C>A	X.37:g.120181718C>A							p.R60R	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	257	+			60					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.180C>A	CCDS14603.1																																																																																				PASS	0.692	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		23	19	23	19	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298951	125298952	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:125298951_125298952GG>TT	ENST00000360028.2	-	1	982_983	c.956_957CC>AA	c.(955-957)tCC>tAA	p.S319*	DCAF12L2_ENST00000538699.1_Nonsense_Mutation_p.S319*			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	319								p.S319Y(2)|p.S319S(2)|p.S319*(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCGTACAGGGACAACTCATC	0.619																																						uc004euk.1																			6	Substitution - Nonsense(2)|Substitution - Missense(2)|Substitution - coding silent(2)		lung(6)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(955-957)TCC>TCA|c.(955-957)TCC>TAC		DDB1 and CUL4 associated factor 12-like 2																																				SO:0001587	stop_gained	340578							g.chrX:125298951G>T|g.chrX:125298952G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.956_957delinsTT	X.37:g.125298951_125298952delinsTT	ENSP00000353128:p.Ser319*						p.S319S|p.S319Y	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	984|983	-			319					B2RN42	Silent|Missense_Mutation	SNP	ENST00000360028.2	37	c.957C>A|c.956C>A	CCDS43991.1																																																																																				PASS	0.619	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		47|46	59|61	46	59	---	---	---	---
CTAG2	30848	broad.mit.edu	37	X	153880852	153880852	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:153880852A>C	ENST00000247306.4	-	2	386	c.323T>G	c.(322-324)aTc>aGc	p.I108S	CTAG2_ENST00000369585.3_Missense_Mutation_p.I108S	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome (GO:0005813)		p.I108S(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CCGGGACAGGATCCTGCGGAC	0.617																																						uc004fmi.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(322-324)ATC>AGC		cancer/testis antigen 2 isoform LAGE-1b							43.0	42.0	43.0					X																	153880852		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880852A>C	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.323T>G	X.37:g.153880852A>C	ENSP00000247306:p.Ile108Ser					CTAG2_uc004fmh.1_Missense_Mutation_p.I108S	p.I108S	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	376	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		108					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.323T>G	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.643273	0.00792	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.19394	2.15;2.15	2.95	-5.88	0.02290	.	.	.	.	.	T	0.04048	0.0113	N	0.00760	-1.21	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.31668	-0.9935	9	0.23302	T	0.38	-1.6675	0.5379	0.00640	0.3915:0.13:0.1627:0.3158	.	108;108	O75638;O75638-2	CTAG2_HUMAN;.	S	108;108;50	ENSP00000247306:I108S;ENSP00000358598:I108S	ENSP00000247306:I108S	I	-	2	0	CTAG2	153534046	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.087000	0.01360	-1.408000	0.02040	-0.552000	0.04208	ATC		PASS	0.617	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		14	20	14	20	---	---	---	---
CTAG2	30848	broad.mit.edu	37	X	153880861	153880861	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:153880861A>G	ENST00000247306.4	-	2	377	c.314T>C	c.(313-315)gTc>gCc	p.V105A	CTAG2_ENST00000369585.3_Missense_Mutation_p.V105A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	105						centrosome (GO:0005813)		p.V105A(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GATCCTGCGGACCAGCTCCGC	0.612																																						uc004fmi.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(313-315)GTC>GCC		cancer/testis antigen 2 isoform LAGE-1b							42.0	41.0	41.0					X																	153880861		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880861A>G	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.314T>C	X.37:g.153880861A>G	ENSP00000247306:p.Val105Ala					CTAG2_uc004fmh.1_Missense_Mutation_p.V105A	p.V105A	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	367	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		105					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.314T>C	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.482102	0.01027	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.22539	1.95;1.95	2.95	-1.4	0.08968	.	.	.	.	.	T	0.05318	0.0141	N	0.01493	-0.835	0.09310	N	1	B;B	0.15473	0.013;0.01	B;B	0.09377	0.004;0.002	T	0.40459	-0.9562	9	0.09084	T	0.74	-13.954	4.6532	0.12605	0.2365:0.3346:0.4289:0.0	.	105;105	O75638;O75638-2	CTAG2_HUMAN;.	A	105;105;47	ENSP00000247306:V105A;ENSP00000358598:V105A	ENSP00000247306:V105A	V	-	2	0	CTAG2	153534055	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	-0.459000	0.07013	-0.498000	0.04607	GTC		PASS	0.612	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		8	21	8	21	---	---	---	---
CTAG2	30848	broad.mit.edu	37	X	153880869	153880869	+	Silent	SNP	C	C	T			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:153880869C>T	ENST00000247306.4	-	2	369	c.306G>A	c.(304-306)gcG>gcA	p.A102A	CTAG2_ENST00000369585.3_Silent_p.A102A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	102						centrosome (GO:0005813)		p.A102A(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GGACCAGCTCCGCTTCCATGG	0.612																																						uc004fmi.1																			3	Substitution - coding silent(3)		lung(3)	pancreas(1)	1						c.(304-306)GCG>GCA		cancer/testis antigen 2 isoform LAGE-1b							41.0	40.0	40.0					X																	153880869		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880869C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.306G>A	X.37:g.153880869C>T						CTAG2_uc004fmh.1_Silent_p.A102A	p.A102A	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	359	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		102					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.306G>A	CCDS14759.1																																																																																				PASS	0.612	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		10	16	10	16	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25470586	25470587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chr2:25470586_25470587insA	ENST00000264709.3	-	8	1224_1225	c.887_888insT	c.(886-888)gtgfs	p.V296fs	DNMT3A_ENST00000402667.1_Frame_Shift_Ins_p.V73fs|DNMT3A_ENST00000380746.4_Frame_Shift_Ins_p.V107fs|DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.V296fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	296	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCCCCCACACCAGCTCCCC	0.649			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(886-888)GTGfs		DNA cytosine methyltransferase 3 alpha isoform																																				SO:0001589	frameshift_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470586_25470587insA		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.888dupT	2.37:g.25470587_25470587dupA	ENSP00000264709:p.Val296fs					DNMT3A_uc002rgd.2_Frame_Shift_Ins_p.V296fs|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Frame_Shift_Ins_p.V107fs	p.V296fs	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			8	1144_1145	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		296			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Ins	INS	ENST00000264709.3	37	c.887_888insT	CCDS33157.1																																																																																					0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		77	34	77	34	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32456493	32456494	+	Frame_Shift_Ins	INS	-	-	A	rs377156960		TCGA-66-2770-01A-01D-1522-08	TCGA-66-2770-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e417903d-ab76-44f0-aae9-3a91fa9a8d3c	3755168b-f5da-422d-847a-566cb112a8d7	g.chrX:32456493_32456494insA	ENST00000357033.4	-	29	4141_4142	c.3935_3936insT	c.(3934-3936)ttgfs	p.L1312fs	DMD_ENST00000378677.2_Frame_Shift_Ins_p.L1308fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1312					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCGCATCAAATTTTCAAG	0.361																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3934-3936)TTGfs		dystrophin Dp427m isoform																																				SO:0001589	frameshift_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456493_32456494insA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3936dupT	X.37:g.32456496_32456496dupA	ENSP00000354923:p.Leu1312fs					DMD_uc004dcz.2_Frame_Shift_Ins_p.L1189fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.L1308fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.L1304fs|DMD_uc010ngo.1_Intron	p.L1312fs	NM_004006	NP_003997	P11532	DMD_HUMAN			29	4179_4180	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1312			Spectrin 9.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Ins	INS	ENST00000357033.4	37	c.3935_3936insT	CCDS14233.1																																																																																					0.361	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		46	69	46	69	---	---	---	---
