#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
CPSF3L	54973	broad.mit.edu	37	1	1250995	1250995	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:1250995C>G	ENST00000435064.1	-	5	515	c.433G>C	c.(433-435)Gat>Cat	p.D145H	CPSF3L_ENST00000540437.1_Missense_Mutation_p.D151H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.D47H|CPSF3L_ENST00000545578.1_Missense_Mutation_p.D116H|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000462432.1_5'UTR|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000419704.1_Missense_Mutation_p.D44H|CPSF3L_ENST00000450926.2_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	145					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.D145H(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCTCATCATCTACCTGTGGA	0.642																																						uc001aee.1																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GAT>CAT		cleavage and polyadenylation specific factor							70.0	61.0	64.0					1																	1250995		2203	4300	6503	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250995C>G	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.433G>C	1.37:g.1250995C>G	ENSP00000413493:p.Asp145His					CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.D151H|CPSF3L_uc009vjz.1_Intron|CPSF3L_uc010nyj.1_Missense_Mutation_p.D116H|CPSF3L_uc001aeg.1_Missense_Mutation_p.D21H|CPSF3L_uc001aeh.1_Missense_Mutation_p.D44H|CPSF3L_uc001aei.1_Splice_Site_p.N47_splice|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_5'UTR	p.D145H	NM_017871	NP_060341	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	5	491	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	145					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.433G>C	CCDS21.1	.	.	.	.	.	.	.	.	.	.	c	18.33	3.600352	0.66332	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000545578;ENST00000526332;ENST00000527719;ENST00000530031	T;T;T;T;T;T;T	0.80304	0.94;1.03;0.94;-1.36;0.92;-1.36;-1.36	4.74	4.74	0.60224	Beta-lactamase-like (2);	0.053060	0.64402	D	0.000001	D	0.90328	0.6974	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;0.972;0.978	D;P;D	0.79784	0.993;0.866;0.918	D	0.91798	0.5449	10	0.72032	D	0.01	-30.7109	17.919	0.88960	0.0:1.0:0.0:0.0	.	44;151;145	Q5TA45-2;G3V1S5;Q5TA45	.;.;INT11_HUMAN	H	145;47;44;151;116;21;151;192	ENSP00000413493:D145H;ENSP00000404886:D44H;ENSP00000445001:D151H;ENSP00000444672:D116H;ENSP00000434790:D21H;ENSP00000436743:D151H;ENSP00000432009:D192H	ENSP00000400548:D47H	D	-	1	0	CPSF3L	1240858	1.000000	0.71417	0.978000	0.43139	0.144000	0.21451	7.310000	0.78947	2.441000	0.82636	0.457000	0.33378	GAT		PASS	0.642	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		23	52	23	52	---	---	---	---
TAS1R3	83756	broad.mit.edu	37	1	1267268	1267268	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:1267268G>C	ENST00000339381.5	+	2	474	c.442G>C	c.(442-444)Gag>Cag	p.E148Q		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	148					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E148Q(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCACTCGTCAGAGCTCGCCAT	0.667																																						uc010nyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GAG>CAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						42.0	46.0	45.0					1																	1267268		2200	4297	6497	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267268G>C	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.442G>C	1.37:g.1267268G>C	ENSP00000344411:p.Glu148Gln						p.E148Q	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	2	442	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	148			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.442G>C	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790478	0.50102	.	.	ENSG00000169962	ENST00000339381	D	0.82893	-1.66	4.63	4.63	0.57726	Extracellular ligand-binding receptor (1);	0.276730	0.35235	N	0.003350	D	0.89649	0.6776	M	0.75447	2.3	0.32980	D	0.523502	D	0.89917	1.0	D	0.77004	0.989	D	0.91882	0.5516	10	0.48119	T	0.1	.	12.9514	0.58403	0.0818:0.0:0.9182:0.0	.	148	Q7RTX0	TS1R3_HUMAN	Q	148	ENSP00000344411:E148Q	ENSP00000344411:E148Q	E	+	1	0	TAS1R3	1257131	1.000000	0.71417	0.154000	0.22540	0.072000	0.16883	7.757000	0.85209	2.133000	0.65898	0.561000	0.74099	GAG		PASS	0.667	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			19	45	19	45	---	---	---	---
TAS1R3	83756	broad.mit.edu	37	1	1267812	1267812	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:1267812G>A	ENST00000339381.5	+	3	933	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	301					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E301K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGTGGCCAGCGAGGCCTGGCT	0.672																																						uc010nyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GAG>AAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						25.0	23.0	23.0					1																	1267812		2187	4288	6475	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267812G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.901G>A	1.37:g.1267812G>A	ENSP00000344411:p.Glu301Lys						p.E301K	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	901	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	301			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.901G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385072	0.82792	.	.	ENSG00000169962	ENST00000339381	D	0.87103	-2.21	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.273554	0.36101	N	0.002796	D	0.93572	0.7948	M	0.90309	3.105	0.45076	D	0.998092	D	0.63880	0.993	P	0.57101	0.813	D	0.95078	0.8210	10	0.87932	D	0	.	17.986	0.89156	0.0:0.0:1.0:0.0	.	301	Q7RTX0	TS1R3_HUMAN	K	301	ENSP00000344411:E301K	ENSP00000344411:E301K	E	+	1	0	TAS1R3	1257675	1.000000	0.71417	0.969000	0.41365	0.877000	0.50540	4.844000	0.62846	2.251000	0.74343	0.561000	0.74099	GAG		PASS	0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			12	14	12	14	---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3410404	3410404	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:3410404C>G	ENST00000356575.4	-	34	4544	c.4318G>C	c.(4318-4320)Gca>Cca	p.A1440P	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1440						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A1440P(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCACAGGGTGCCCCCCCGTCA	0.667																																					Ovarian(73;978 3658)	uc001akl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(4318-4320)GCA>CCA		EGF-like-domain, multiple 3 precursor							26.0	33.0	31.0					1																	3410404		2010	4146	6156	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3410404C>G	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4318G>C	1.37:g.3410404C>G	ENSP00000348982:p.Ala1440Pro					MEGF6_uc001akk.2_Intron	p.A1440P	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	34	4545	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1440					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.4318G>C	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251598	0.05867	.	.	ENSG00000162591	ENST00000356575	T	0.52983	0.64	3.94	0.965	0.19661	EGF-like, laminin (1);	0.572967	0.17700	N	0.164958	T	0.53142	0.1778	L	0.55213	1.73	0.09310	N	1	D	0.63880	0.993	P	0.62560	0.904	T	0.36359	-0.9751	9	.	.	.	-0.275	5.7055	0.17905	0.2678:0.5764:0.0:0.1558	.	1440	O75095	MEGF6_HUMAN	P	1440	ENSP00000348982:A1440P	.	A	-	1	0	MEGF6	3400264	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	0.192000	0.17096	0.346000	0.23899	-0.226000	0.12346	GCA		PASS	0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	15	3	15	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10425165	10425165	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:10425165G>A	ENST00000377086.1	+	42	4576	c.4374G>A	c.(4372-4374)caG>caA	p.Q1458Q	KIF1B_ENST00000263934.6_Silent_p.Q1412Q|KIF1B_ENST00000377081.1_Silent_p.Q1458Q			O60333	KIF1B_HUMAN	kinesin family member 1B	1458					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q1412Q(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAGGTATGCAGAGAAGGAGAA	0.388																																						uc001aqx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4372-4374)CAG>CAA		kinesin family member 1B isoform b							44.0	47.0	46.0					1																	10425165		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425165G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4374G>A	1.37:g.10425165G>A						KIF1B_uc001aqw.3_Silent_p.Q1412Q|KIF1B_uc001aqy.2_Silent_p.Q1432Q|KIF1B_uc001aqz.2_Silent_p.Q1458Q|KIF1B_uc001ara.2_Silent_p.Q1418Q|KIF1B_uc001arb.2_Silent_p.Q1444Q	p.Q1458Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4576	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1458					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.4374G>A																																																																																					PASS	0.388	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			19	47	19	47	---	---	---	---
C1orf127	148345	broad.mit.edu	37	1	11008317	11008317	+	Silent	SNP	T	T	C	rs150211489		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:11008317T>C	ENST00000377008.4	-	11	1820	c.1374A>G	c.(1372-1374)ccA>ccG	p.P458P	C1orf127_ENST00000377004.4_Silent_p.P625P			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	458								p.P458P(1)|p.P625P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTGTCTGGCGTGGCCTCTCCA	0.662													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17999	0.0		0.0	False		,,,				2504	0.0					uc010oao.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1426-1428)CCA>CCG		hypothetical protein LOC148345		T		4,4402	8.1+/-20.4	0,4,2199	57.0	65.0	63.0		1875	-7.3	0.0	1	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	C1orf127	NM_001170754.1		0,4,6499	CC,CT,TT		0.0,0.0908,0.0308		625/824	11008317	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11008317T>C	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1374A>G	1.37:g.11008317T>C						C1orf127_uc001arr.1_Silent_p.P458P|C1orf127_uc001ars.1_Silent_p.P450P	p.P476P	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1433	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	476					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.1428A>G		.	.	.	.	.	.	.	.	.	.	T	4.687	0.127780	0.08981	9.08E-4	0.0	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	4.44	-7.29	0.01451	.	.	.	.	.	T	0.15132	0.0365	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21586	-1.0241	4	.	.	.	-1.1934	0.9556	0.01384	0.2303:0.2772:0.1115:0.3811	.	.	.	.	R	460;577	.	.	H	-	2	0	C1orf127	10930904	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.332000	0.01109	-1.771000	0.01293	-1.792000	0.00626	CAC		PASS	0.662	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		38	87	38	87	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11298641	11298641	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:11298641G>A	ENST00000361445.4	-	12	1896	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	607	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A607V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GAAATGATCCGCACAGTGGCG	0.547																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(1819-1821)GCG>GTG		FK506 binding protein 12-rapamycin associated							59.0	51.0	54.0					1																	11298641		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11298641G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1820C>T	1.37:g.11298641G>A	ENSP00000354558:p.Ala607Val						p.A607V	NM_004958	NP_004949	P42345	MTOR_HUMAN			12	1941	-			607					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.1820C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128586	0.77549	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.62941	-0.01	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	L	0.46819	1.47	0.80722	D	1	D	0.67145	0.996	P	0.51135	0.66	T	0.64546	-0.6382	10	0.36615	T	0.2	-5.9122	19.6091	0.95594	0.0:0.0:1.0:0.0	.	607	P42345	MTOR_HUMAN	V	607	ENSP00000354558:A607V	ENSP00000354558:A607V	A	-	2	0	MTOR	11221228	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.434000	0.97515	2.650000	0.89964	0.655000	0.94253	GCG		PASS	0.547	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		15	31	15	31	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12317132	12317132	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:12317132C>T	ENST00000358136.3	+	9	1059	c.929C>T	c.(928-930)gCg>gTg	p.A310V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A310V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A310V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCAAGGTGGCGATATCTAAG	0.443																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(928-930)GCG>GTG		vacuolar protein sorting 13D isoform 1							97.0	89.0	92.0					1																	12317132		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12317132C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.929C>T	1.37:g.12317132C>T	ENSP00000350854:p.Ala310Val					VPS13D_uc001atw.2_Missense_Mutation_p.A310V	p.A310V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	9	1070	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	310						Missense_Mutation	SNP	ENST00000358136.3	37	c.929C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619541	0.66787	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.46063	0.88;0.88	6.17	6.17	0.99709	.	0.230647	0.45361	N	0.000375	T	0.30293	0.0760	L	0.29908	0.895	0.80722	D	1	P;P	0.44260	0.83;0.739	B;B	0.28465	0.09;0.041	T	0.11518	-1.0584	10	0.45353	T	0.12	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	310;310	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	310	ENSP00000348666:A310V;ENSP00000350854:A310V	ENSP00000348666:A310V	A	+	2	0	VPS13D	12239719	0.927000	0.31430	0.971000	0.41717	0.492000	0.33523	3.385000	0.52485	2.941000	0.99782	0.655000	0.94253	GCG		PASS	0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		18	58	18	58	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152640	18152640	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:18152640G>A	ENST00000375406.1	+	3	943	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	243					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G243S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCTCCCAGACGGCTCCCGCGT	0.632											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(727-729)GGC>AGC		actin-like 8							45.0	49.0	47.0					1																	18152640		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152640G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.727G>A	1.37:g.18152640G>A	ENSP00000364555:p.Gly243Ser		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.G243S	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	943	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	243					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.727G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411402	0.83340	.	.	ENSG00000117148	ENST00000375406	D	0.96885	-4.16	4.94	3.97	0.46021	.	0.000000	0.46145	D	0.000313	D	0.98388	0.9464	M	0.93678	3.445	0.31291	N	0.689403	D	0.89917	1.0	D	0.83275	0.996	D	0.96398	0.9294	10	0.87932	D	0	-44.4966	12.9757	0.58537	0.0:0.0:0.8381:0.1619	.	243	Q9H568	ACTL8_HUMAN	S	243	ENSP00000364555:G243S	ENSP00000364555:G243S	G	+	1	0	ACTL8	18025227	1.000000	0.71417	0.852000	0.33557	0.087000	0.18053	5.626000	0.67777	2.424000	0.82194	0.655000	0.94253	GGC		PASS	0.632	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		23	61	23	61	---	---	---	---
TMCO4	255104	broad.mit.edu	37	1	20097876	20097876	+	Silent	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:20097876A>C	ENST00000294543.6	-	5	520	c.279T>G	c.(277-279)ggT>ggG	p.G93G	TMCO4_ENST00000375127.1_Silent_p.G93G|TMCO4_ENST00000375122.2_Silent_p.G93G	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	93						integral component of membrane (GO:0016021)		p.G93G(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGCTCCTTCACCTCCCAGGC	0.547																																						uc001bcn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GGT>GGG		transmembrane and coiled-coil domains 4							100.0	98.0	99.0					1																	20097876		2203	4300	6503	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20097876A>C		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.279T>G	1.37:g.20097876A>C						TMCO4_uc001bcm.2_Silent_p.G93G|TMCO4_uc001bco.1_Silent_p.G93G|TMCO4_uc001bcp.1_Silent_p.G93G|TMCO4_uc009vpn.1_Silent_p.G93G|TMCO4_uc001bcq.1_Silent_p.G93G	p.G93G	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	5	521	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	93					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.279T>G	CCDS198.1																																																																																				PASS	0.547	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		7	103	7	103	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22924692	22924692	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:22924692A>G	ENST00000166244.3	+	12	2237	c.2165A>G	c.(2164-2166)gAc>gGc	p.D722G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D722G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCTCTGGACACCTTCCTG	0.622																																						uc001bfx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2164-2166)GAC>GGC		ephrin receptor EphA8 isoform 1 precursor							114.0	109.0	111.0					1																	22924692		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924692A>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2165A>G	1.37:g.22924692A>G	ENSP00000166244:p.Asp722Gly						p.D722G	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	12	2290	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	722			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2165A>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625993	0.66901	.	.	ENSG00000070886	ENST00000166244	T	0.62788	0.0	4.59	4.59	0.56863	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	N	0.21448	0.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67015	-0.5777	10	0.87932	D	0	.	7.7597	0.28944	0.9053:0.0:0.0947:0.0	.	722	P29322	EPHA8_HUMAN	G	722	ENSP00000166244:D722G	ENSP00000166244:D722G	D	+	2	0	EPHA8	22797279	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	5.882000	0.69714	1.943000	0.56356	0.379000	0.24179	GAC		PASS	0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		23	57	23	57	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23240345	23240345	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:23240345C>T	ENST00000400191.3	+	17	3168	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	EPHB2_ENST00000374632.3_3'UTR|RP1-74M1.3_ENST00000610135.1_lincRNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1050					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.D1050D(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAAGCAATGACTGTTCTTGCG	0.438																																						uc009vqj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(3148-3150)GAC>GAT		ephrin receptor EphB2 isoform 1 precursor							37.0	41.0	40.0					1																	23240345		1568	3582	5150	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240345C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3150C>T	1.37:g.23240345C>T						EPHB2_uc001bge.2_3'UTR|EPHB2_uc001bgf.2_3'UTR|EPHB2_uc010odu.1_3'UTR	p.D1050D	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	17	3295	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	1050			Cytoplasmic (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.3150C>T																																																																																					PASS	0.438	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		4	14	4	14	---	---	---	---
IFNLR1	163702	broad.mit.edu	37	1	24484323	24484323	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:24484323A>T	ENST00000327535.1	-	7	872	c.860T>A	c.(859-861)gTg>gAg	p.V287E	IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327575.2_Silent_p.R243R	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	287					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.V287E(1)									CAAGTCATTCACGGACTCTGG	0.537																																						uc001bis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GTG>GAG		interleukin 28 receptor, alpha isoform 1							84.0	91.0	89.0					1																	24484323		2203	4300	6503	SO:0001583	missense	163702				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	g.chr1:24484323A>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.860T>A	1.37:g.24484323A>T	ENSP00000327824:p.Val287Glu					IL28RA_uc001bir.2_Intron|IL28RA_uc001bit.2_Silent_p.R243R|IL28RA_uc001biu.2_Missense_Mutation_p.V203E	p.V287E	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	7	873	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	287			Cytoplasmic (Potential).		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.860T>A	CCDS248.1	.	.	.	.	.	.	.	.	.	.	A	8.254	0.809610	0.16537	.	.	ENSG00000185436	ENST00000327535	.	.	.	5.38	-3.82	0.04281	.	1.694140	0.02711	N	0.112810	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.21724	-1.0237	9	0.29301	T	0.29	1.1993	12.0189	0.53331	0.4166:0.0:0.5834:0.0	.	287	Q8IU57	I28RA_HUMAN	E	287	.	ENSP00000327824:V287E	V	-	2	0	IL28RA	24356910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.248000	0.08854	-0.675000	0.05246	-0.250000	0.11733	GTG		PASS	0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		48	127	48	127	---	---	---	---
TMEM57	55219	broad.mit.edu	37	1	25824875	25824875	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:25824875C>T	ENST00000374343.4	+	11	2092	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	TMEM57_ENST00000399763.3_Missense_Mutation_p.P280L|TMEM57_ENST00000399766.3_Missense_Mutation_p.P411L	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	638					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.P638L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTTTCCCCCCACTACTCT	0.537																																						uc001bkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1912-1914)CCC>CTC		transmembrane protein 57							99.0	90.0	93.0					1																	25824875		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25824875C>T	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1913C>T	1.37:g.25824875C>T	ENSP00000363463:p.Pro638Leu					TMEM57_uc009vru.2_Missense_Mutation_p.P411L|TMEM57_uc009vrv.2_Missense_Mutation_p.P280L	p.P638L	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	11	2115	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	638					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1913C>T	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906580	0.72868	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.74258	2.255	0.80722	D	1	D;P;D	0.76494	0.998;0.859;0.999	D;P;D	0.72982	0.943;0.481;0.979	T	0.80959	-0.1149	9	0.66056	D	0.02	-12.2489	18.7195	0.91688	0.0:1.0:0.0:0.0	.	280;411;638	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	L	411;280;638	.	ENSP00000363463:P638L	P	+	2	0	TMEM57	25697462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.256000	0.78350	2.659000	0.90383	0.591000	0.81541	CCC		PASS	0.537	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		38	108	38	108	---	---	---	---
CEP85	64793	broad.mit.edu	37	1	26603162	26603162	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:26603162G>C	ENST00000252992.4	+	13	2170	c.2039G>C	c.(2038-2040)tGc>tCc	p.C680S	SH3BGRL3_ENST00000270792.5_5'Flank|CEP85_ENST00000451429.2_Missense_Mutation_p.C629S|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	680						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.C680S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TTGGCCAGTTGCCTTCAAGAT	0.607																																						uc001bls.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2038-2040)TGC>TCC		coiled-coil domain containing 21							73.0	61.0	65.0					1																	26603162		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26603162G>C	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2039G>C	1.37:g.26603162G>C	ENSP00000252992:p.Cys680Ser					CCDC21_uc001blr.2_Missense_Mutation_p.C680S|CCDC21_uc010ofa.1_Missense_Mutation_p.C629S|CCDC21_uc001blt.1_Missense_Mutation_p.C112S	p.C680S	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	13	2170	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	680					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.2039G>C	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.454344|4.454344	0.84209|0.84209	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.10192	.|2.9;2.9	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36552|0.36552	0.0971|0.0971	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.994;0.999	T|T	0.02789|0.02789	-1.1110|-1.1110	5|10	.|0.38643	.|T	.|0.18	-6.1396|-6.1396	19.4023|19.4023	0.94635|0.94635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|629;680;680	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	P|S	354|629;680	.|ENSP00000417002:C629S;ENSP00000252992:C680S	.|ENSP00000252992:C680S	A|C	+|+	1|2	0|0	CEP85|CEP85	26475749|26475749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.683000|0.683000	0.39861|0.39861	9.476000|9.476000	0.97823|0.97823	2.605000|2.605000	0.88082|0.88082	0.555000|0.555000	0.69702|0.69702	GCC|TGC		PASS	0.607	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		16	30	16	30	---	---	---	---
MARCKSL1	65108	broad.mit.edu	37	1	32800483	32800483	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:32800483G>T	ENST00000329421.7	-	2	648	c.303C>A	c.(301-303)agC>agA	p.S101R		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	101	Effector domain involved in lipid- binding. {ECO:0000250}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S101R(1)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGACAGGCCGCTCAATTTGA	0.577																																						uc001bvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)AGC>AGA		MARCKS-like 1							40.0	42.0	41.0					1																	32800483		2203	4299	6502	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800483G>T	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.303C>A	1.37:g.32800483G>T	ENSP00000362638:p.Ser101Arg						p.S101R	NM_023009	NP_075385	P49006	MRP_HUMAN			2	503	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	101					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.303C>A	CCDS361.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079644	0.55753	.	.	ENSG00000175130	ENST00000329421	T	0.44881	0.91	4.96	-0.701	0.11269	.	0.099172	0.64402	D	0.000001	T	0.35307	0.0927	L	0.52011	1.625	0.41460	D	0.988037	P	0.35139	0.486	B	0.40165	0.321	T	0.11155	-1.0599	10	0.72032	D	0.01	-5.7658	6.4478	0.21885	0.2151:0.1206:0.6644:0.0	.	101	P49006	MRP_HUMAN	R	101	ENSP00000362638:S101R	ENSP00000362638:S101R	S	-	3	2	MARCKSL1	32573070	0.961000	0.32948	0.990000	0.47175	0.998000	0.95712	0.106000	0.15354	-0.333000	0.08476	0.561000	0.74099	AGC		PASS	0.577	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		26	63	26	63	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34003178	34003178	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:34003178G>T	ENST00000373381.4	-	61	9839	c.9663C>A	c.(9661-9663)tcC>tcA	p.S3221S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3197	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3077S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCCCACGGGACGGGACAC	0.597																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(9229-9231)TCC>TCA		CUB and Sushi multiple domains 2							55.0	50.0	52.0					1																	34003178		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003178G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9663C>A	1.37:g.34003178G>T						CSMD2_uc001bxm.1_Silent_p.S3221S	p.S3077S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			60	9260	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3077			Extracellular (Potential).|Sushi 24.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.9231C>A																																																																																					PASS	0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		11	29	11	29	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36474339	36474339	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:36474339G>T	ENST00000373191.4	+	7	1191	c.842G>T	c.(841-843)cGt>cTt	p.R281L	RP4-665N4.8_ENST00000466576.2_RNA|RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.R47L	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	281	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.R281L(1)									CGGAAATACCGTGTTTGTAAT	0.428																																						uc001bzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)CGT>CTT		eukaryotic translation initiation factor 2C, 3							72.0	75.0	74.0					1																	36474339		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36474339G>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.842G>T	1.37:g.36474339G>T	ENSP00000362287:p.Arg281Leu					EIF2C3_uc001bzq.2_Missense_Mutation_p.R47L	p.R281L	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			7	1098	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	281			PAZ.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.842G>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251239	0.95305	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.16743	2.32;2.32	5.61	5.61	0.85477	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.93328	3.405	0.80722	D	1	B	0.21147	0.052	P	0.45071	0.468	T	0.57248	-0.7844	10	0.72032	D	0.01	-10.3973	20.0018	0.97417	0.0:0.0:1.0:0.0	.	281	Q9H9G7	AGO3_HUMAN	L	281;47	ENSP00000362287:R281L;ENSP00000246314:R47L	ENSP00000246314:R47L	R	+	2	0	EIF2C3	36246926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGT		PASS	0.428	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		34	63	34	63	---	---	---	---
ADPRHL2	54936	broad.mit.edu	37	1	36558756	36558756	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:36558756C>T	ENST00000373178.4	+	6	891	c.861C>T	c.(859-861)tgC>tgT	p.C287C		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	287						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.C287C(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				TCCTACGCTGCATGGAGCCAG	0.557																																						uc001bzt.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(859-861)TGC>TGT		ADP-ribosylhydrolase like 2							119.0	112.0	115.0					1																	36558756		2203	4300	6503	SO:0001819	synonymous_variant	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36558756C>T	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.861C>T	1.37:g.36558756C>T						ADPRHL2_uc001bzu.2_Silent_p.C133C	p.C287C	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN			6	914	+		Myeloproliferative disorder(586;0.0393)	287					Q53G94|Q6IAB8|Q9BY47	Silent	SNP	ENST00000373178.4	37	c.861C>T	CCDS402.1																																																																																				PASS	0.557	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		18	68	18	68	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38411480	38411480	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:38411480G>A	ENST00000373026.1	-	2	100	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	INPP5B_ENST00000373024.3_Missense_Mutation_p.R34C|INPP5B_ENST00000373023.2_Missense_Mutation_p.R34C|INPP5B_ENST00000373021.1_Missense_Mutation_p.R34C			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	34	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.R71C(1)|p.R34C(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCAGGAGGCGGCTCTGCCGG	0.677																																						uc001ccg.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)	1						c.(100-102)CGC>TGC		inositol polyphosphate-5-phosphatase, 75kDa							46.0	57.0	53.0					1																	38411480		2056	4201	6257	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38411480G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.100C>T	1.37:g.38411480G>A	ENSP00000362117:p.Arg34Cys					INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR	p.R34C	NM_005540	NP_005531	P32019	I5P2_HUMAN			3	194	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	34					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.100C>T		.	.	.	.	.	.	.	.	.	.	G	29.1	4.981032	0.92982	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.96073	-3.73;-3.73;-3.9;-0.19	4.65	4.65	0.58169	.	0.137507	0.45867	D	0.000334	D	0.96969	0.9010	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97502	1.0061	10	0.87932	D	0	.	14.8056	0.69952	0.0:0.0:1.0:0.0	.	34	P32019-2	.	C	34	ENSP00000362114:R34C;ENSP00000362117:R34C;ENSP00000362115:R34C;ENSP00000362112:R34C	ENSP00000362112:R34C	R	-	1	0	INPP5B	38184067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.409000	0.66374	2.304000	0.77564	0.563000	0.77884	CGC		PASS	0.677	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		29	95	29	95	---	---	---	---
ZNF684	127396	broad.mit.edu	37	1	41007298	41007298	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:41007298A>G	ENST00000372699.3	+	4	405	c.154A>G	c.(154-156)Acc>Gcc	p.T52A	ZNF684_ENST00000372697.3_Missense_Mutation_p.T52A|ZNF684_ENST00000372696.3_Missense_Mutation_p.T52A|ZNF684_ENST00000493756.1_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	52	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.T52A(1)		breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ATGTCCAATTACCAAAACAAA	0.493																																						uc001cft.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)ACC>GCC		zinc finger protein 684							96.0	85.0	89.0					1																	41007298		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41007298A>G		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.154A>G	1.37:g.41007298A>G	ENSP00000361784:p.Thr52Ala						p.T52A	NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		4	405	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	52			KRAB.		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.154A>G	CCDS454.1	.	.	.	.	.	.	.	.	.	.	A	0.686	-0.796238	0.02862	.	.	ENSG00000117010	ENST00000372699;ENST00000372697;ENST00000372696	T;T;T	0.41065	5.7;1.01;1.01	3.96	0.202	0.15190	Krueppel-associated box (3);	0.243433	0.21445	N	0.074436	T	0.22126	0.0533	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08827	-1.0703	10	0.30854	T	0.27	.	1.1282	0.01740	0.5136:0.1941:0.1055:0.1869	.	52	Q5T5D7	ZN684_HUMAN	A	52	ENSP00000361784:T52A;ENSP00000361782:T52A;ENSP00000361781:T52A	ENSP00000361781:T52A	T	+	1	0	ZNF684	40779885	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.202000	0.03023	0.021000	0.15133	-1.182000	0.01712	ACC		PASS	0.493	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		7	17	7	17	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44424465	44424465	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:44424465C>T	ENST00000372343.3	+	11	2594	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	644					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L644L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGGGCTTCTCTCCAACCTCT	0.572																																						uc001ckx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1930-1932)CTC>CTT		importin 13							118.0	109.0	112.0					1																	44424465		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424465C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1932C>T	1.37:g.44424465C>T							p.L644L	NM_014652	NP_055467	O94829	IPO13_HUMAN			11	2727	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	644			HEAT 11.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1932C>T	CCDS503.1																																																																																				PASS	0.572	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		29	81	29	81	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52926837	52926837	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:52926837T>C	ENST00000371544.3	-	19	3552	c.3290A>G	c.(3289-3291)tAt>tGt	p.Y1097C	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Y1097C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1097					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.Y1097C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATATCCCAAATACTGCACTCT	0.289																																						uc001ctx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3289-3291)TAT>TGT		zinc finger, CCHC domain containing 11 isoform							99.0	100.0	100.0					1																	52926837		2203	4288	6491	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52926837T>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3290A>G	1.37:g.52926837T>C	ENSP00000360599:p.Tyr1097Cys					ZCCHC11_uc001cty.2_Missense_Mutation_p.Y1097C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.Y1097C|ZCCHC11_uc009vze.1_Missense_Mutation_p.Y1097C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.Y856C|ZCCHC11_uc001cua.1_Missense_Mutation_p.Y14C	p.Y1097C	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			19	3524	-			1097					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3290A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380941	0.61845	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.55234	0.53;0.53;0.53;0.89	6.04	6.04	0.98038	.	0.066070	0.64402	D	0.000003	T	0.68357	0.2992	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.912;0.994	T	0.66356	-0.5944	10	0.39692	T	0.17	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	856;1097	E9PKX1;Q5TAX3	.;TUT4_HUMAN	C	1097;1097;1026;856	ENSP00000257177:Y1097C;ENSP00000360599:Y1097C;ENSP00000433486:Y1026C;ENSP00000435256:Y856C	ENSP00000257177:Y1097C	Y	-	2	0	ZCCHC11	52699425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.792000	0.55476	2.317000	0.78254	0.460000	0.39030	TAT		PASS	0.289	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		37	96	37	96	---	---	---	---
PARS2	25973	broad.mit.edu	37	1	55224731	55224731	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:55224731C>T	ENST00000371279.3	-	2	186	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	35					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.R35K(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CCGCCCTCTTCTTGGGGCACA	0.607																																						uc001cxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)AGA>AAA		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						30.0	31.0	30.0					1																	55224731		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224731C>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.104G>A	1.37:g.55224731C>T	ENSP00000360327:p.Arg35Lys						p.R35K	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	187	-			35					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.104G>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.978978	0.00448	.	.	ENSG00000162396	ENST00000371279	T	0.39406	1.08	5.1	2.12	0.27331	.	0.503034	0.20123	N	0.098746	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.31943	-0.9925	10	0.02654	T	1	-8.1751	7.6389	0.28282	0.0:0.7182:0.0:0.2818	.	35	Q7L3T8	SYPM_HUMAN	K	35	ENSP00000360327:R35K	ENSP00000360327:R35K	R	-	2	0	PARS2	54997319	0.000000	0.05858	0.385000	0.26158	0.067000	0.16453	0.316000	0.19469	0.150000	0.19136	0.591000	0.81541	AGA		PASS	0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		12	28	12	28	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504217	70504217	+	Missense_Mutation	SNP	C	C	A	rs141934258		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:70504217C>A	ENST00000035383.5	+	19	2626	c.2596C>A	c.(2596-2598)Ccc>Acc	p.P866T	LRRC7_ENST00000415775.2_Missense_Mutation_p.P150T|LRRC7_ENST00000310961.5_Missense_Mutation_p.P871T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	866						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P866T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAGACAACCCCCACTACCAG	0.458																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2596-2598)CCC>ACC		leucine rich repeat containing 7							84.0	92.0	89.0					1																	70504217		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504217C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2596C>A	1.37:g.70504217C>A	ENSP00000035383:p.Pro866Thr					LRRC7_uc009wbg.2_Missense_Mutation_p.P150T|LRRC7_uc001deq.2_Missense_Mutation_p.P107T	p.P866T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2626	+			866					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2596C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984368	0.53934	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.61980	0.06;0.18;1.3	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.64279	-0.6445	10	0.30854	T	0.27	.	19.3033	0.94151	0.0:1.0:0.0:0.0	.	150;866;866	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	871;866;150;689	ENSP00000309245:P871T;ENSP00000035383:P866T;ENSP00000394867:P150T	ENSP00000035383:P866T	P	+	1	0	LRRC7	70276805	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	7.466000	0.80914	2.809000	0.96659	0.467000	0.42956	CCC		PASS	0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		36	121	36	121	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504751	70504751	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:70504751G>C	ENST00000035383.5	+	19	3160	c.3130G>C	c.(3130-3132)Gcc>Ccc	p.A1044P	LRRC7_ENST00000415775.2_Missense_Mutation_p.A328P|LRRC7_ENST00000310961.5_Missense_Mutation_p.A1049P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1044						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A1044P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAAGTGAAAGCCGAAAAGAG	0.443																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3130-3132)GCC>CCC		leucine rich repeat containing 7							62.0	66.0	65.0					1																	70504751		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504751G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3130G>C	1.37:g.70504751G>C	ENSP00000035383:p.Ala1044Pro					LRRC7_uc009wbg.2_Missense_Mutation_p.A328P|LRRC7_uc001deq.2_Missense_Mutation_p.A285P	p.A1044P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3160	+			1044					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3130G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	1.826	-0.470932	0.04445	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39592	1.07;1.14;2.24	5.63	4.71	0.59529	.	0.238294	0.43579	D	0.000551	T	0.13329	0.0323	L	0.38531	1.155	0.27671	N	0.946759	B;B;B	0.22746	0.074;0.004;0.006	B;B;B	0.22152	0.038;0.004;0.003	T	0.15954	-1.0419	10	0.13853	T	0.58	.	10.7287	0.46083	0.0:0.1429:0.7086:0.1485	.	328;1044;1044	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	P	1049;1044;328;867	ENSP00000309245:A1049P;ENSP00000035383:A1044P;ENSP00000394867:A328P	ENSP00000035383:A1044P	A	+	1	0	LRRC7	70277339	1.000000	0.71417	0.432000	0.26747	0.001000	0.01503	3.661000	0.54503	1.363000	0.46019	-0.309000	0.09137	GCC		PASS	0.443	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	27	8	27	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507041	74507042	+	Missense_Mutation	DNP	CG	CG	AA	rs78197692|rs374700532	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:74507041_74507042CG>AA	ENST00000395089.1	-	6	1572_1573	c.1573_1574CG>TT	c.(1573-1575)CGc>TTc	p.R525F	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R525F			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	525								p.R525C(2)|p.R525L(1)|p.R525F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAAAGAGTGCGCTCATTATTT	0.361																																						uc001dfy.3																			4	Substitution - Missense(4)		lung(3)|central_nervous_system(1)	ovary(2)	2						c.(1573-1575)CGC>CTC|c.(1573-1575)CGC>TGC		leucine-rich repeats and IQ motif containing 3																																				SO:0001583	missense	127255							g.chr1:74507041C>A|g.chr1:74507042G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1573_1574delinsAA	1.37:g.74507041_74507042delinsAA	ENSP00000378524:p.Arg525Phe					LRRIQ3_uc001dfz.3_Intron	p.R525L|p.R525C	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1766|1765	-			525					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1574G>T|c.1573C>T	CCDS41350.1																																																																																				PASS	0.361	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		35	138|142	35	138	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670223	74670223	+	Silent	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:74670223T>A	ENST00000609362.1	+	4	529	c.492T>A	c.(490-492)gtT>gtA	p.V164V	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000370898.3_Silent_p.V177V|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	164					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.V164V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GAATTCTGGTTACCTGTGCAG	0.358																																						uc001dgb.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(490-492)GTT>GTA		fucose-1-phosphate guanyltransferase							108.0	109.0	109.0					1																	74670223		2203	4300	6503	SO:0001819	synonymous_variant	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670223T>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.492T>A	1.37:g.74670223T>A						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.V164V	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	529	+			164					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.492T>A	CCDS663.1																																																																																				PASS	0.358	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				39	98	39	98	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79385867	79385867	+	Splice_Site	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:79385867C>A	ENST00000370742.3	-	10	1525		c.e10+1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCTACATACCTTATTAGTA	0.318																																						uc001diq.3																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e10+1		EGF, latrophilin and seven transmembrane domain							65.0	61.0	62.0					1																	79385867		1822	4067	5889	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79385867C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1461+1G>T	1.37:g.79385867C>A							p.K487_splice	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1617	-								B1AR71|Q5KU34	Splice_Site	SNP	ENST00000370742.3	37	c.1461_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198781	0.79015	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6799	0.91543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELTD1	79158455	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.557000	0.82243	2.473000	0.83533	0.655000	0.94253	.		PASS	0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Intron	15	42	15	42	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82434990	82434990	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:82434990T>A	ENST00000370728.1	+	17	3285	c.2640T>A	c.(2638-2640)aaT>aaA	p.N880K	LPHN2_ENST00000370727.1_Missense_Mutation_p.N880K|LPHN2_ENST00000370715.1_Missense_Mutation_p.N867K|LPHN2_ENST00000271029.4_Missense_Mutation_p.N880K|LPHN2_ENST00000370730.1_Missense_Mutation_p.N880K|LPHN2_ENST00000370721.1_Missense_Mutation_p.N805K|LPHN2_ENST00000370725.1_Missense_Mutation_p.N880K|LPHN2_ENST00000370723.1_Missense_Mutation_p.N867K|LPHN2_ENST00000359929.3_Missense_Mutation_p.N867K|LPHN2_ENST00000319517.6_Missense_Mutation_p.N867K|LPHN2_ENST00000370717.2_Missense_Mutation_p.N880K|LPHN2_ENST00000370713.1_Missense_Mutation_p.N867K|LPHN2_ENST00000394879.1_Missense_Mutation_p.N867K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.N880K			O95490	LPHN2_HUMAN	latrophilin 2	880					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.N880K(1)|p.N867K(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGACCGAAATACTATTCACA	0.408																																						uc001dit.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2599-2601)AAT>AAA		latrophilin 2 precursor							250.0	225.0	234.0					1																	82434990		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82434990T>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2640T>A	1.37:g.82434990T>A	ENSP00000359763:p.Asn880Lys					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.N867K|LPHN2_uc001div.2_Missense_Mutation_p.N867K|LPHN2_uc009wcd.2_Missense_Mutation_p.N867K|LPHN2_uc001diw.2_Missense_Mutation_p.N451K|LPHN2_uc009wce.1_5'Flank	p.N867K	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	14	2782	+			880			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2601T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.90|19.90	3.913303|3.913303	0.72983|0.72983	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.01|5.01	-3.82|-3.82	0.04281|0.04281	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46444|0.46444	0.1393|0.1393	M|M	0.72353|0.72353	2.195|2.195	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D	.|0.69078	.|0.968;0.997;0.997	.|D;D;D	.|0.67900	.|0.917;0.94;0.954	T|T	0.60919|0.60919	-0.7167|-0.7167	5|10	.|0.87932	.|D	.|0	.|.	14.4276|14.4276	0.67227|0.67227	0.0:0.7127:0.0:0.2873|0.0:0.7127:0.0:0.2873	.|.	.|867;867;867	.|O95490-3;O95490-4;O95490-2	.|.;.;.	K|K	748|805;880;880;880;880;867;867;867;867;867;880;867;880;880	.|ENSP00000359756:N805K;ENSP00000359763:N880K;ENSP00000359765:N880K;ENSP00000359762:N880K;ENSP00000359760:N880K;ENSP00000359758:N867K;ENSP00000353006:N867K;ENSP00000359750:N867K;ENSP00000359748:N867K;ENSP00000322270:N867K;ENSP00000359752:N880K;ENSP00000378344:N867K;ENSP00000271029:N880K;ENSP00000337306:N880K	.|ENSP00000271029:N880K	I|N	+|+	2|3	0|2	LPHN2|LPHN2	82207578|82207578	0.557000|0.557000	0.26546|0.26546	0.908000|0.908000	0.35775|0.35775	0.911000|0.911000	0.54048|0.54048	-0.139000|-0.139000	0.10358|0.10358	-0.666000|-0.666000	0.05310|0.05310	-0.334000|-0.334000	0.08254|0.08254	ATA|AAT		PASS	0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		46	145	46	145	---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85412764	85412764	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:85412764T>A	ENST00000370608.3	-	7	866	c.799A>T	c.(799-801)Agt>Tgt	p.S267C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.S239C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	267					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S267C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTGGCATCACTGTCAAAATAG	0.318																																						uc001dkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(799-801)AGT>TGT		mucolipin 2							150.0	154.0	153.0					1																	85412764		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85412764T>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.799A>T	1.37:g.85412764T>A	ENSP00000359640:p.Ser267Cys					MCOLN2_uc001dkn.2_Splice_Site	p.S267C	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	7	1040	-			267					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.799A>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533597	0.64972	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.80123	-1.34;-1.34	5.76	4.6	0.57074	.	0.304838	0.39020	N	0.001489	T	0.71324	0.3326	L	0.60455	1.87	0.32996	D	0.525608	D	0.60575	0.988	P	0.46975	0.533	T	0.73304	-0.4025	10	0.56958	D	0.05	-21.6891	12.1177	0.53873	0.1287:0.0:0.0:0.8713	.	267	Q8IZK6	MCLN2_HUMAN	C	267;239	ENSP00000359640:S267C;ENSP00000284027:S239C	ENSP00000284027:S239C	S	-	1	0	MCOLN2	85185352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.842000	0.55858	0.959000	0.37980	0.472000	0.43445	AGT		PASS	0.318	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		28	113	28	113	---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89299084	89299084	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:89299084G>A	ENST00000370521.3	+	22	3267	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	PKN2_ENST00000544045.1_Missense_Mutation_p.E644K|PKN2_ENST00000370505.3_Missense_Mutation_p.E813K|PKN2_ENST00000495119.1_3'UTR|PKN2_ENST00000370513.5_Missense_Mutation_p.E922K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	970	AGC-kinase C-terminal.|Necessary for the catalytic activity.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E970K(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTCGGAAGAGGAGCAGGAAAT	0.403																																						uc001dmn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2908-2910)GAG>AAG		protein kinase N2							88.0	88.0	88.0					1																	89299084		1969	4146	6115	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89299084G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2908G>A	1.37:g.89299084G>A	ENSP00000359552:p.Glu970Lys					PKN2_uc010osp.1_Missense_Mutation_p.E954K|PKN2_uc010osq.1_Missense_Mutation_p.E813K|PKN2_uc009wcv.2_Missense_Mutation_p.E922K|PKN2_uc010osr.1_Missense_Mutation_p.E635K	p.E970K	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	22	3250	+		Lung NSC(277;0.123)	970			AGC-kinase C-terminal.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2908G>A	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878184	0.72294	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.84	5.84	0.93424	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.45361	U	0.000363	T	0.66499	0.2795	M	0.74258	2.255	0.58432	D	0.999999	D;D;P	0.64830	0.994;0.988;0.698	D;P;B	0.65573	0.936;0.786;0.371	T	0.69075	-0.5241	10	0.72032	D	0.01	.	16.383	0.83481	0.0:0.1316:0.8684:0.0	.	954;922;970	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	K	970;813;922;644	ENSP00000359552:E970K;ENSP00000359536:E813K;ENSP00000359544:E922K;ENSP00000439643:E644K	ENSP00000359536:E813K	E	+	1	0	PKN2	89071672	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.555000	0.82223	2.758000	0.94735	0.591000	0.81541	GAG		PASS	0.403	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		24	58	24	58	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91816355	91816355	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:91816355C>G	ENST00000370425.3	-	18	2244	c.2146G>C	c.(2146-2148)Gtg>Ctg	p.V716L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.V395L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	716	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V716L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCCATTCCACAGCAATATTC	0.328																																						uc001doa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2146-2148)GTG>CTG		HFM1 protein							151.0	139.0	143.0					1																	91816355		1864	4096	5960	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91816355C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2146G>C	1.37:g.91816355C>G	ENSP00000359454:p.Val716Leu					HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.V395L|HFM1_uc010osv.1_Missense_Mutation_p.V400L	p.V716L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	18	2246	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	716			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2146G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.237058	0.00277	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.40225	1.04;1.04	5.46	4.34	0.51931	Helicase, C-terminal (1);	0.000000	0.37348	N	0.002131	T	0.08133	0.0203	N	0.04705	-0.18	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14364	-1.0475	10	0.25106	T	0.35	.	8.0277	0.30446	0.7914:0.137:0.0716:0.0	.	395;716	A6NGI5;A2PYH4	.;HFM1_HUMAN	L	716;395;400	ENSP00000359454:V716L;ENSP00000359453:V395L	ENSP00000359450:V400L	V	-	1	0	HFM1	91588943	1.000000	0.71417	0.999000	0.59377	0.670000	0.39368	2.155000	0.42301	0.467000	0.27218	-0.539000	0.04255	GTG		PASS	0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		34	92	34	92	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92185495	92185495	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:92185495A>T	ENST00000525962.1	-	8	1429	c.1368T>A	c.(1366-1368)tgT>tgA	p.C456*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.C455*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.C456*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	456	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C456*(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTCATTGTCACATTTGACAG	0.507																																						uc001doh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1366-1368)TGT>TGA		transforming growth factor, beta receptor III							161.0	159.0	160.0					1																	92185495		2203	4300	6503	SO:0001587	stop_gained	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185495A>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1368T>A	1.37:g.92185495A>T	ENSP00000436127:p.Cys456*					TGFBR3_uc009wde.2_Nonsense_Mutation_p.C233*|TGFBR3_uc010osy.1_Nonsense_Mutation_p.C414*|TGFBR3_uc001doi.2_Nonsense_Mutation_p.C455*|TGFBR3_uc001doj.2_Nonsense_Mutation_p.C455*	p.C456*	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1834	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	456			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.1368T>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	A	35	5.514553	0.96402	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	5.28	1.66	0.24008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9875	9.6799	0.40063	0.7899:0.0:0.2101:0.0	.	.	.	.	X	456;455;456;455	.	ENSP00000212355:C456X	C	-	3	2	TGFBR3	91958083	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.520000	0.35899	0.418000	0.25898	0.533000	0.62120	TGT		PASS	0.507	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		37	114	37	114	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92728459	92728459	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:92728459C>G	ENST00000370360.3	-	16	1515	c.1434G>C	c.(1432-1434)ttG>ttC	p.L478F	GLMN_ENST00000534881.1_Missense_Mutation_p.L464F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	478					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.L478F(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CCAAATACCTCAATAAATTTA	0.269									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1432-1434)TTG>TTC		glomulin							46.0	48.0	47.0					1																	92728459		2186	4283	6469	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92728459C>G	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1434G>C	1.37:g.92728459C>G	ENSP00000359385:p.Leu478Phe					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.L464F	p.L478F	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	16	1549	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	478					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1434G>C	CCDS738.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.815696	0.70912	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.54279	0.58;0.58	5.58	5.58	0.84498	.	0.135239	0.51477	D	0.000092	T	0.66117	0.2757	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69213	-0.5204	10	0.72032	D	0.01	-6.3241	15.0191	0.71613	0.1426:0.8574:0.0:0.0	.	464;478	B4DJ85;Q92990	.;GLMN_HUMAN	F	478;464	ENSP00000359385:L478F;ENSP00000440156:L464F	ENSP00000359385:L478F	L	-	3	2	GLMN	92501047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.882000	0.63121	2.617000	0.88574	0.655000	0.94253	TTG		PASS	0.269	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		3	30	3	30	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94568695	94568695	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:94568695C>T	ENST00000370225.3	-	5	532	c.446G>A	c.(445-447)aGa>aAa	p.R149K	ABCA4_ENST00000535735.1_Missense_Mutation_p.R149K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	149					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R149K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTATTCCTCTTCCTACATA	0.393																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(445-447)AGA>AAA		ATP-binding cassette, sub-family A member 4							193.0	187.0	189.0					1																	94568695		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94568695C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.446G>A	1.37:g.94568695C>T	ENSP00000359245:p.Arg149Lys					ABCA4_uc010otn.1_Missense_Mutation_p.R149K	p.R149K	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	5	550	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	149			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.446G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.367083	0.05069	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.90788	-2.62;-2.73	5.27	3.4	0.38934	.	0.118042	0.56097	N	0.000036	T	0.71384	0.3333	L	0.35341	1.055	0.42742	D	0.993743	B;B	0.22003	0.063;0.001	B;B	0.18871	0.023;0.002	T	0.64283	-0.6444	10	0.08837	T	0.75	.	11.4424	0.50105	0.0:0.8524:0.0:0.1476	.	149;149	F5H6E5;P78363	.;ABCA4_HUMAN	K	149	ENSP00000359245:R149K;ENSP00000437682:R149K	ENSP00000359245:R149K	R	-	2	0	ABCA4	94341283	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	2.169000	0.42434	0.618000	0.30179	-0.140000	0.14226	AGA		PASS	0.393	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		51	169	51	169	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97771800	97771800	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:97771800A>C	ENST00000370192.3	-	17	2212	c.2112T>G	c.(2110-2112)atT>atG	p.I704M	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	704					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.I704M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAAAAAAAGGAATCTGAACAG	0.438																																						uc001drv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2110-2112)ATT>ATG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						171.0	169.0	169.0					1																	97771800		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771800A>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2112T>G	1.37:g.97771800A>C	ENSP00000359211:p.Ile704Met						p.I704M	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2249	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	704					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2112T>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747952	0.49257	.	.	ENSG00000188641	ENST00000370192	T	0.77098	-1.07	6.08	4.96	0.65561	Aldolase-type TIM barrel (1);	0.692003	0.14633	N	0.307684	D	0.83147	0.5191	M	0.73753	2.245	0.80722	D	1	P	0.40834	0.73	P	0.61132	0.884	D	0.83890	0.0284	10	0.87932	D	0	-4.6125	12.0451	0.53475	0.9332:0.0:0.0668:0.0	.	704	Q12882	DPYD_HUMAN	M	704	ENSP00000359211:I704M	ENSP00000359211:I704M	I	-	3	3	DPYD	97544388	1.000000	0.71417	0.949000	0.38748	0.973000	0.67179	3.151000	0.50670	1.129000	0.42072	0.482000	0.46254	ATT		PASS	0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		85	163	85	163	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98039315	98039315	+	Splice_Site	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:98039315C>G	ENST00000370192.3	-	11	1440		c.e11+1			NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAGCACTGTACCTTTAGGATC	0.383																																						uc001drv.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8	GRCh37	CS052409	DPYD	S		c.e11+1		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						170.0	149.0	156.0					1																	98039315		2203	4300	6503	SO:0001630	splice_region_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039315C>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1339+1G>C	1.37:g.98039315C>G							p.V447_splice	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1476	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)						A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP	ENST00000370192.3	37	c.1339_splice	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.592389	0.86953	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8525	0.88751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97811903	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.432000	0.80349	2.737000	0.93849	0.650000	0.86243	.		PASS	0.383	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	Intron	42	113	42	113	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98058935	98058935	+	Missense_Mutation	SNP	C	C	G	rs201018345		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:98058935C>G	ENST00000370192.3	-	10	1067	c.967G>C	c.(967-969)Gcc>Ccc	p.A323P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	323					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A323P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GAGTGACAGGCGCACATTCCT	0.453																																						uc001drv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(967-969)GCC>CCC		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						110.0	93.0	99.0					1																	98058935		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98058935C>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.967G>C	1.37:g.98058935C>G	ENSP00000359211:p.Ala323Pro						p.A323P	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	10	1104	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	323					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.967G>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393824	0.42410	.	.	ENSG00000188641	ENST00000370192	D	0.89196	-2.48	6.17	6.17	0.99709	.	0.442660	0.26851	N	0.022163	D	0.82829	0.5122	L	0.50919	1.6	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.75961	-0.3133	10	0.40728	T	0.16	-7.4549	19.0599	0.93085	0.0:1.0:0.0:0.0	.	323	Q12882	DPYD_HUMAN	P	323	ENSP00000359211:A323P	ENSP00000359211:A323P	A	-	1	0	DPYD	97831523	0.882000	0.30256	0.997000	0.53966	0.959000	0.62525	1.448000	0.35112	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.453	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		14	45	14	45	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109812421	109812421	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:109812421C>G	ENST00000271332.3	+	22	7147	c.7086C>G	c.(7084-7086)ctC>ctG	p.L2362L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2362	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2362L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGCTGTGCTCATGGACGTTT	0.667																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(7084-7086)CTC>CTG		cadherin EGF LAG seven-pass G-type receptor 2							103.0	108.0	106.0					1																	109812421		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109812421C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7086C>G	1.37:g.109812421C>G							p.L2362L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	22	7147	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2362			Extracellular (Potential).|GPS.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.7086C>G	CCDS796.1																																																																																				PASS	0.667	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	201	4	201	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111495334	111495334	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:111495334G>C	ENST00000369763.4	-	2	562	c.172C>G	c.(172-174)Cta>Gta	p.L58V	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.L58V(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GATTGAACTAGTGGTATAAGA	0.403																																						uc001eaa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)CTA>GTA		receptor-interacting factor 1 isoform 1							54.0	55.0	55.0					1																	111495334		2202	4299	6501	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495334G>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.172C>G	1.37:g.111495334G>C	ENSP00000358778:p.Leu58Val					C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.L58V	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	428	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	58					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.172C>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321656	0.23994	.	.	ENSG00000121931	ENST00000369763	T	0.23348	1.91	5.52	4.59	0.56863	.	0.326094	0.24925	N	0.034508	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B	0.26483	0.15	B	0.23150	0.044	T	0.23154	-1.0196	10	0.12103	T	0.63	-2.4681	12.5384	0.56154	0.0:0.3357:0.6643:0.0	.	58	Q5T3J3	LRIF1_HUMAN	V	58	ENSP00000358778:L58V	ENSP00000358778:L58V	L	-	1	2	LRIF1	111296857	0.806000	0.28996	1.000000	0.80357	0.954000	0.61252	0.482000	0.22276	1.309000	0.44985	0.467000	0.42956	CTA		PASS	0.403	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		21	61	21	61	---	---	---	---
ADORA3	140	broad.mit.edu	37	1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	rs143962803	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	195					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A195T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AGATAGATGGCGCACATGACA	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		25187	0.0		0.0	False		,,,				2504	0.0					uc001ebh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(583-585)GCC>ACC		adenosine A3 receptor isoform 2	Adenosine(DB00640)|Aminophylline(DB01223)	C	THR/ALA,,	24,4382	32.6+/-62.9	0,24,2179	145.0	136.0	139.0		583,,	2.1	0.2	1	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	58,,	0,25,6478	TT,TC,CC		0.0116,0.5447,0.1922	benign,,	195/319,,	112042946	25,12981	2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042946C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.583G>A	1.37:g.112042946C>T	ENSP00000241356:p.Ala195Thr					ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron	p.A195T	NM_000677	NP_000668	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1350	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	195			Helical; Name=5; (By similarity).		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.583G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124357	0.20959	0.005447	1.16E-4	ENSG00000121933	ENST00000241356	T	0.37058	1.22	5.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10852	0.0265	L	0.39467	1.215	0.23174	N	0.998173	P	0.41784	0.762	B	0.36534	0.227	T	0.11717	-1.0576	9	0.27785	T	0.31	.	8.8535	0.35214	0.0:0.6997:0.0:0.3003	.	195	P33765	AA3R_HUMAN	T	195	ENSP00000241356:A195T	ENSP00000241356:A195T	A	-	1	0	ADORA3	111844469	0.077000	0.21312	0.173000	0.22940	0.021000	0.10359	1.197000	0.32211	0.227000	0.20999	0.655000	0.94253	GCC		PASS	0.433	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		23	67	23	67	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114970454	114970454	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:114970454G>A	ENST00000358465.2	-	7	1301	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	TRIM33_ENST00000369543.2_Silent_p.S406S|TRIM33_ENST00000450349.2_Silent_p.S14S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	406					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S406S(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCTGCCGGGAAAGGCCTG	0.443			T	RET	papillary thyroid																																	uc001eew.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		1	Substitution - coding silent(1)		lung(1)	lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(1216-1218)TCC>TCT		tripartite motif-containing 33 protein isoform							147.0	133.0	138.0					1																	114970454		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114970454G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1218C>T	1.37:g.114970454G>A						TRIM33_uc010owr.1_Silent_p.S14S|TRIM33_uc010ows.1_Silent_p.S14S|TRIM33_uc001eex.2_Silent_p.S406S	p.S406S	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1302	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	406					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1218C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173135	0.21704	.	.	ENSG00000197323	ENST00000448034	.	.	.	6.02	0.352	0.16051	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19910	-1.0291	4	.	.	.	-8.2796	1.6825	0.02835	0.1452:0.1824:0.241:0.4313	.	.	.	.	L	143	.	.	P	-	2	0	TRIM33	114771977	0.033000	0.19621	0.999000	0.59377	0.914000	0.54420	-1.043000	0.03535	0.135000	0.18707	-0.181000	0.13052	CCC		PASS	0.443	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		30	74	30	74	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118506562	118506562	+	Splice_Site	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:118506562G>A	ENST00000336338.5	-	48	6598		c.e48-1		WDR3_ENST00000349139.5_3'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.?(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTAAAACAGGTAAAATACTT	0.328																																						uc001ehk.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.e48-1		sperm associated antigen 17							134.0	142.0	140.0					1																	118506562		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118506562G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6533-1C>T	1.37:g.118506562G>A							p.T2178_splice	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	48	6601	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)						Q8NAZ1|Q9NT21	Splice_Site	SNP	ENST00000336338.5	37	c.6533_splice	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299143	0.40694	.	.	ENSG00000155761	ENST00000336338	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4354	0.61082	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPAG17	118308085	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	5.050000	0.64251	2.632000	0.89209	0.603000	0.83216	.		PASS	0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Intron	41	124	41	124	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109637	145109637	+	RNA	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:145109637G>A	ENST00000453618.1	+	0	626							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GAACAGCATGGAAAGAAGGTG	0.443																																						uc001eml.1																			0					0						c.(298-300)GGA>GAA		SEC22 vesicle trafficking protein homolog B							620.0	616.0	617.0					1																	145109637		2008	4193	6201			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109637G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109637G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.G100E	NM_004892	NP_004883	O75396	SC22B_HUMAN			5	439	+			100			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.299G>A																																																																																					PASS	0.443	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		36	829	36	829	---	---	---	---
PDZK1	5174	broad.mit.edu	37	1	145748527	145748527	+	Silent	SNP	C	C	A	rs377544145		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:145748527C>A	ENST00000344770.2	+	3	473	c.400C>A	c.(400-402)Cgg>Agg	p.R134R	PDZK1_ENST00000451928.2_Silent_p.R134R|PDZK1_ENST00000417171.1_Silent_p.R134R	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	134	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)	p.R134R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GACCCAGCCCCGGCTCTGCTA	0.517																																						uc001eon.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)CGG>AGG		PDZ domain containing 1							60.0	65.0	63.0					1																	145748527		2203	4300	6503	SO:0001819	synonymous_variant	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145748527C>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.400C>A	1.37:g.145748527C>A						NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Silent_p.R134R|PDZK1_uc010oza.1_Silent_p.R134R	p.R134R	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		4	497	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		134			PDZ 2.		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Silent	SNP	ENST00000344770.2	37	c.400C>A	CCDS924.1																																																																																				PASS	0.517	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		24	64	24	64	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148004660	148004660	+	Missense_Mutation	SNP	G	G	A	rs374222236		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:148004660G>A	ENST00000369219.1	-	22	2670	c.2654C>T	c.(2653-2655)tCa>tTa	p.S885L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	885	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S885L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTCCTCAAATGAGTAAAACAC	0.438																																						uc001eqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2653-2655)TCA>TTA		hypothetical protein LOC25832							106.0	168.0	148.0					1																	148004660		2045	4212	6257	SO:0001583	missense	25832					cytoplasm		g.chr1:148004660G>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2654C>T	1.37:g.148004660G>A	ENSP00000358221:p.Ser885Leu					LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.S233L|NBPF14_uc010pac.1_Missense_Mutation_p.S458L	p.S885L	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			22	2671	-	all_hematologic(923;0.032)		885			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.2654C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.592|7.592	0.670899|0.670899	0.14776|0.14776	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.09073	.|3.02	0.445|0.445	0.445|0.445	0.16597|0.16597	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.04679|0.04679	0.0127|0.0127	L|L	0.49640|0.49640	1.575|1.575	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.42757	.|0.044;0.624;0.789	.|B;B;P	.|0.47251	.|0.068;0.42;0.542	T|T	0.34304|0.34304	-0.9834|-0.9834	4|8	.|0.49607	.|T	.|0.09	.|.	.|.	.|.	.|.	.|.	.|233;866;885	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	Y|L	891|885;233	.|ENSP00000358221:S885L	.|ENSP00000358221:S885L	H|S	-|-	1|2	0|0	NBPF14|NBPF14	146471284|146471284	0.975000|0.975000	0.34042|0.34042	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	0.775000|0.775000	0.26689|0.26689	0.537000|0.537000	0.28751|0.28751	0.372000|0.372000	0.22366|0.22366	CAT|TCA		PASS	0.438	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		119	218	119	218	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151108492	151108492	+	Silent	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:151108492A>T	ENST00000341697.3	-	13	2945	c.1254T>A	c.(1252-1254)acT>acA	p.T418T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	418	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T418T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACCTGCTAGTGAGAGTGA	0.562																																						uc001ewu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1252-1254)ACT>ACA		semaphorin Y precursor							115.0	113.0	114.0					1																	151108492		2203	4300	6503	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151108492A>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1254T>A	1.37:g.151108492A>T						SEMA6C_uc001ewv.2_Silent_p.T418T|SEMA6C_uc001eww.2_Silent_p.T378T|SEMA6C_uc010pcq.1_Silent_p.T418T	p.T418T	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1554	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		418			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.1254T>A	CCDS984.1																																																																																				PASS	0.562	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		42	27	42	27	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151204164	151204164	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:151204164G>C	ENST00000368888.4	+	5	677	c.255G>C	c.(253-255)ttG>ttC	p.L85F	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.L73F|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.L72F|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.L73F	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	85	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.L85F(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCAGCCTTGAAAGGTGCCA	0.428																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(253-255)TTG>TTC		phosphatidylinositol-4-phosphate 5-kinase, type							129.0	113.0	119.0					1																	151204164		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204164G>C	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.255G>C	1.37:g.151204164G>C	ENSP00000357883:p.Leu85Phe					PIP5K1A_uc001exi.2_Missense_Mutation_p.L72F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L73F|PIP5K1A_uc001exk.2_Missense_Mutation_p.L72F|PIP5K1A_uc010pcv.1_5'Flank	p.L85F	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	707	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		85			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.255G>C	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878104	0.72294	.	.	ENSG00000143398	ENST00000447555;ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000418435	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.44	4.52	0.55395	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.991;0.999	T	0.60752	-0.7201	10	0.87932	D	0	.	9.4306	0.38608	0.0809:0.1446:0.7746:0.0	.	73;72;85;72	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	F	77;72;73;73;72;85;49	ENSP00000271663:L72F;ENSP00000386432:L73F;ENSP00000415648:L73F;ENSP00000357885:L72F;ENSP00000357883:L85F;ENSP00000414632:L49F	ENSP00000271663:L72F	L	+	3	2	PIP5K1A	149470788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.958000	0.40402	1.512000	0.48834	0.644000	0.83932	TTG		PASS	0.428	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		23	92	23	92	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152193338	152193338	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:152193338C>T	ENST00000368801.2	-	3	842	c.767G>A	c.(766-768)gGc>gAc	p.G256D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	256					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G256D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCGTAGCCAGAGGAGTG	0.542																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(766-768)GGC>GAC		hornerin							326.0	303.0	311.0					1																	152193338		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193338C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.767G>A	1.37:g.152193338C>T	ENSP00000357791:p.Gly256Asp						p.G256D	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	843	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		256			2.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.767G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.419	0.636311	0.14386	.	.	ENSG00000197915	ENST00000368801	T	0.04406	3.63	4.54	-3.88	0.04205	.	.	.	.	.	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.47497	-0.9113	9	0.11485	T	0.65	.	7.0763	0.25207	0.0:0.2123:0.4748:0.313	.	256	Q86YZ3	HORN_HUMAN	D	256	ENSP00000357791:G256D	ENSP00000357791:G256D	G	-	2	0	HRNR	150459962	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.364000	0.01080	-0.919000	0.03803	-0.852000	0.03032	GGC		PASS	0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		116	388	116	388	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154091182	154091182	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:154091182G>A	ENST00000368559.3	-	11	1500	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H477Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	477					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.H477Y(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCATAGGATGATGAGGAAAT	0.338																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1429-1431)CAT>TAT		nucleoporin 210kDa-like isoform 1							167.0	170.0	169.0					1																	154091182		1831	4085	5916	SO:0001583	missense	91181					integral to membrane		g.chr1:154091182G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1429C>T	1.37:g.154091182G>A	ENSP00000357547:p.His477Tyr					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H477Y	p.H477Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		11	1501	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		477					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1429C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699728	0.30142	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.42131	0.98;0.98	5.0	3.1	0.35709	Invasin/intimin cell-adhesion (1);	0.000000	0.64402	D	0.000015	T	0.07548	0.0190	N	0.19112	0.55	0.29707	N	0.839719	B;B	0.15141	0.012;0.007	B;B	0.12156	0.007;0.005	T	0.35822	-0.9773	10	0.02654	T	1	-10.5551	9.7358	0.40386	0.1663:0.0:0.8337:0.0	.	477;477	E7EP56;Q5VU65	.;P210L_HUMAN	Y	477	ENSP00000357547:H477Y;ENSP00000271854:H477Y	ENSP00000271854:H477Y	H	-	1	0	NUP210L	152357806	1.000000	0.71417	0.855000	0.33649	0.618000	0.37518	2.266000	0.43320	0.508000	0.28173	0.460000	0.39030	CAT		PASS	0.338	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		39	184	39	184	---	---	---	---
GBA	2629	broad.mit.edu	37	1	155207244	155207244	+	Missense_Mutation	SNP	C	C	T	rs78973108		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:155207244C>T	ENST00000327247.5	-	8	1119	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	GBA_ENST00000368373.3_Missense_Mutation_p.R296Q|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000427500.3_Missense_Mutation_p.R247Q|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Missense_Mutation_p.R209Q|GBA_ENST00000536770.1_Missense_Mutation_p.R183Q	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	296			R -> Q (in GD; type 2; also found in a patient with Parkinson disease). {ECO:0000269|PubMed:10796875, ECO:0000269|PubMed:19286695, ECO:0000269|PubMed:8790604}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.R296Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AATGAAGTCTCGCTGATGTTC	0.557									Gaucher disease type I																													uc001fjh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CM940809	GBA	M	rs78973108	c.(886-888)CGA>CAA		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	99.0	81.0	87.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	887,887,887,626,740	3.5	1.0	1	dbSNP_131	87	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	GBA	NM_000157.3,NM_001005741.2,NM_001005742.2,NM_001171811.1,NM_001171812.1	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	296/537,296/537,296/537,209/450,247/488	155207244	1,13005	2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207244C>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.887G>A	1.37:g.155207244C>T	ENSP00000314508:p.Arg296Gln					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R183Q|GBA_uc010pfx.1_Missense_Mutation_p.R247Q|GBA_uc001fji.2_Missense_Mutation_p.R296Q|GBA_uc001fjj.2_Missense_Mutation_p.R296Q|GBA_uc001fjk.2_Missense_Mutation_p.R296Q|GBA_uc001fjl.2_Missense_Mutation_p.R296Q|GBA_uc010pfy.1_Missense_Mutation_p.R209Q|GBA_uc009wqk.1_Missense_Mutation_p.R209Q	p.R296Q	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1037	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		296		R -> Q (in GD; type 2; also found in a patient with Parkinson disease).			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.887G>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.262894	0.80358	2.27E-4	0.0	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000011	D	0.99548	0.9838	M	0.88377	2.95	0.47994	A	0.999567	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.989;0.996	D	0.98534	1.0629	9	0.62326	D	0.03	-16.3734	10.6675	0.45739	0.0:1.0:0.0:0.0	.	247;183;296	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	Q	247;209;296;296;183;253;281	ENSP00000402577:R247Q;ENSP00000397986:R209Q;ENSP00000357357:R296Q;ENSP00000314508:R296Q;ENSP00000445560:R183Q	ENSP00000314508:R296Q	R	-	2	0	GBA	153473868	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.922000	0.75811	1.948000	0.56530	0.313000	0.20887	CGA		PASS	0.557	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		24	64	24	64	---	---	---	---
LRRC71	149499	broad.mit.edu	37	1	156902656	156902656	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:156902656C>T	ENST00000337428.7	+	15	1729	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	525								p.F525F(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AAAATTGCTTCGCCCCACAAT	0.493																																						uc001fqm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1573-1575)TTC>TTT		hypothetical protein LOC149499							46.0	44.0	44.0					1																	156902656		1911	4128	6039	SO:0001819	synonymous_variant	149499							g.chr1:156902656C>T	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1575C>T	1.37:g.156902656C>T						C1orf92_uc001fql.2_Missense_Mutation_p.S346L	p.F525F	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN			15	1747	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		525					Q96M24	Silent	SNP	ENST00000337428.7	37	c.1575C>T	CCDS44249.1																																																																																				PASS	0.493	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		6	19	6	19	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804447	157804447	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:157804447C>A	ENST00000368174.4	-	4	564	c.468G>T	c.(466-468)caG>caT	p.Q156H	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	156	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.Q156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCACTGGTTCTGGTGCTTCA	0.622																																						uc001frk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)CAG>CAT		CD5 molecule-like precursor							104.0	101.0	102.0					1																	157804447		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804447C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.468G>T	1.37:g.157804447C>A	ENSP00000357156:p.Gln156His						p.Q156H	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	611	-	all_hematologic(112;0.0378)		156			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.468G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700045	0.48307	.	.	ENSG00000073754	ENST00000368174	T	0.29397	1.57	5.13	0.35	0.16037	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.569452	0.15070	N	0.282254	T	0.09379	0.0231	L	0.53729	1.69	0.09310	N	1	B	0.30851	0.297	B	0.27380	0.079	T	0.19844	-1.0293	10	0.56958	D	0.05	.	2.953	0.05868	0.3492:0.3253:0.0:0.3255	.	156	O43866	CD5L_HUMAN	H	156	ENSP00000357156:Q156H	ENSP00000357156:Q156H	Q	-	3	2	CD5L	156071071	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.070000	0.03440	0.208000	0.20626	0.655000	0.94253	CAG		PASS	0.622	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		32	148	32	148	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:158605732C>A	ENST00000368147.4	-	38	5583	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5401-5403)TGG>TGT		spectrin, alpha, erythrocytic 1							96.0	100.0	98.0					1																	158605732		1950	4145	6095	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605732C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5403G>T	1.37:g.158605732C>A	ENSP00000357129:p.Trp1801Cys						p.W1801C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			38	5602	-	all_hematologic(112;0.0378)		1801			Spectrin 17.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5403G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150324	0.78001	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	5.65	5.65	0.86999	.	0.000000	0.30410	N	0.009696	D	0.84999	0.5597	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87097	0.2176	10	0.72032	D	0.01	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1801	P02549	SPTA1_HUMAN	C	1801	ENSP00000357130:W1801C;ENSP00000357129:W1801C	ENSP00000357129:W1801C	W	-	3	0	SPTA1	156872356	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		113	59	113	59	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158655035	158655035	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:158655035C>T	ENST00000368147.4	-	2	307	c.127G>A	c.(127-129)Gct>Act	p.A43T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	43					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A43T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ccccTCTCAGCGACCCGCTCC	0.483																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(127-129)GCT>ACT		spectrin, alpha, erythrocytic 1							120.0	121.0	120.0					1																	158655035		1925	4137	6062	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655035C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.127G>A	1.37:g.158655035C>T	ENSP00000357129:p.Ala43Thr						p.A43T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			2	326	-	all_hematologic(112;0.0378)		43			Spectrin 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.127G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	8.897	0.955376	0.18507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35236	1.32;1.32	4.98	4.05	0.47172	.	0.000000	0.32120	N	0.006555	T	0.11665	0.0284	L	0.41710	1.295	0.34136	D	0.665856	B	0.12013	0.005	B	0.09377	0.004	T	0.07790	-1.0754	10	0.14252	T	0.57	.	8.4219	0.32705	0.1542:0.7614:0.0:0.0843	.	43	P02549	SPTA1_HUMAN	T	43	ENSP00000357130:A43T;ENSP00000357129:A43T	ENSP00000357129:A43T	A	-	1	0	SPTA1	156921659	0.886000	0.30341	0.994000	0.49952	0.973000	0.67179	1.474000	0.35398	2.594000	0.87642	0.467000	0.42956	GCT		PASS	0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		25	96	25	96	---	---	---	---
ITLN1	55600	broad.mit.edu	37	1	160851012	160851012	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:160851012G>T	ENST00000326245.3	-	5	611	c.496C>A	c.(496-498)Ctg>Atg	p.L166M	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.L166M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCTCAGCAGGGAGCTGTTT	0.567																																						uc001fxc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(496-498)CTG>ATG		intelectin precursor							183.0	151.0	162.0					1																	160851012		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851012G>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.496C>A	1.37:g.160851012G>T	ENSP00000323587:p.Leu166Met						p.L166M	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	612	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		166			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.496C>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840679	0.32513	.	.	ENSG00000179914	ENST00000326245	T	0.33654	1.4	4.02	3.08	0.35506	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.143261	0.29668	N	0.011512	T	0.45236	0.1332	M	0.87547	2.89	0.31127	N	0.708112	D	0.71674	0.998	D	0.77557	0.99	T	0.43972	-0.9358	10	0.52906	T	0.07	-8.3469	5.0778	0.14640	0.1105:0.0:0.6858:0.2037	.	166	Q8WWA0	ITLN1_HUMAN	M	166	ENSP00000323587:L166M	ENSP00000323587:L166M	L	-	1	2	ITLN1	159117636	1.000000	0.71417	0.991000	0.47740	0.237000	0.25408	0.592000	0.23984	0.855000	0.35359	0.655000	0.94253	CTG		PASS	0.567	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		102	39	102	39	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169390622	169390622	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:169390622C>T	ENST00000367806.3	-	3	1199	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	CCDC181_ENST00000367805.3_Silent_p.K349K|CCDC181_ENST00000545005.1_Silent_p.K349K|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	349						nucleus (GO:0005634)		p.K349K(1)									GTTTTTCTCTCTTTTCTTCTA	0.348																																						uc001gga.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1045-1047)AAG>AAA		hypothetical protein LOC57821							54.0	51.0	52.0					1																	169390622		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169390622C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1047G>A	1.37:g.169390622C>T						C1orf114_uc001gfz.1_Silent_p.K349K|C1orf114_uc009wvq.1_Silent_p.K349K|C1orf114_uc001ggb.2_Silent_p.K349K|C1orf114_uc001ggc.1_Silent_p.K349K	p.K349K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	1215	-	all_hematologic(923;0.208)		349			Potential.		O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.1047G>A																																																																																					PASS	0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		18	92	18	92	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170931074	170931074	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:170931074C>T	ENST00000367758.3	+	6	431	c.332C>T	c.(331-333)aCg>aTg	p.T111M	MROH9_ENST00000367759.4_Missense_Mutation_p.T111M	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	111								p.T111M(2)									AACATTCTTACGAGCTTGGTG	0.303																																						uc001ghg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(331-333)ACG>ATG		hypothetical protein LOC80133 isoform 2							37.0	36.0	37.0					1																	170931074		1797	4069	5866	SO:0001583	missense	80133						binding	g.chr1:170931074C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.332C>T	1.37:g.170931074C>T	ENSP00000356732:p.Thr111Met					C1orf129_uc009wvy.2_Translation_Start_Site|C1orf129_uc010plz.1_Missense_Mutation_p.T111M	p.T111M	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			6	462	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		111					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.332C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	2.099	-0.406477	0.04832	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.68331	-0.32;2.44	5.6	1.78	0.24846	Armadillo-like helical (1);	0.641071	0.13775	N	0.363646	T	0.18002	0.0432	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.15235	-1.0444	10	0.33141	T	0.24	-2.2713	2.4403	0.04492	0.151:0.0838:0.1575:0.6078	.	111;111	F5GWX6;Q5TGP6	.;CA129_HUMAN	M	111	ENSP00000356733:T111M;ENSP00000356732:T111M	ENSP00000356732:T111M	T	+	2	0	C1orf129	169197698	0.968000	0.33430	0.221000	0.23827	0.000000	0.00434	1.307000	0.33516	0.399000	0.25367	-1.476000	0.00998	ACG		PASS	0.303	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		14	14	14	14	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175331872	175331872	+	Silent	SNP	G	G	T	rs138173384		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:175331872G>T	ENST00000367674.2	-	14	3489	c.2781C>A	c.(2779-2781)acC>acA	p.T927T	TNR_ENST00000263525.2_Silent_p.T927T			Q92752	TENR_HUMAN	tenascin R	927	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T927T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTTCGTATTCGGTAGCTGGGT	0.527																																						uc001gkp.1																			1	Substitution - coding silent(1)	p.T927I(1)	lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2779-2781)ACC>ACA		tenascin R precursor							217.0	185.0	196.0					1																	175331872		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331872G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2781C>A	1.37:g.175331872G>T						TNR_uc009wwu.1_Silent_p.T927T	p.T927T	NM_003285	NP_003276	Q92752	TENR_HUMAN			12	2862	-	Renal(580;0.146)		927			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2781C>A	CCDS1318.1																																																																																				PASS	0.527	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		33	92	33	92	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564279	176564279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:176564279C>A	ENST00000367662.3	+	3	2703	c.1539C>A	c.(1537-1539)taC>taA	p.Y513*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.Y513*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	513	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y513*(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTCCCAGTACAATGGATACT	0.532																																						uc001gkz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1537-1539)TAC>TAA		pappalysin 2 isoform 1							55.0	55.0	55.0					1																	176564279		1979	4172	6151	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564279C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1539C>A	1.37:g.176564279C>A	ENSP00000356634:p.Tyr513*					PAPPA2_uc001gky.1_Nonsense_Mutation_p.Y513*|PAPPA2_uc009www.2_RNA	p.Y513*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2703	+			513			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.1539C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	c	45	11.769390	0.99601	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.24	3.39	0.38822	.	0.131624	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2102	11.326	0.49448	0.0:0.8522:0.0:0.1478	.	.	.	.	X	513	.	ENSP00000356633:Y513X	Y	+	3	2	PAPPA2	174830902	1.000000	0.71417	0.936000	0.37596	0.005000	0.04900	1.288000	0.33296	0.615000	0.30124	-0.127000	0.14921	TAC		PASS	0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			18	63	18	63	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180053187	180053187	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:180053187G>T	ENST00000367607.3	+	31	6577	c.6159G>T	c.(6157-6159)agG>agT	p.R2053S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2053					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R2053S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGAAGGTAGGATCAGAGCTC	0.353																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6157-6159)AGG>AGT		centrosome-associated protein 350							55.0	53.0	53.0					1																	180053187		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180053187G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6159G>T	1.37:g.180053187G>T	ENSP00000356579:p.Arg2053Ser					CEP350_uc009wxl.2_Missense_Mutation_p.R2052S|CEP350_uc001gnv.2_Missense_Mutation_p.R188S|CEP350_uc001gnw.1_5'Flank	p.R2053S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			31	6542	+			2053			Potential.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6159G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.37|18.37	3.609858|3.609858	0.66558|0.66558	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000437245	.|T;T	.|0.63255	.|-0.03;-0.03	5.39|5.39	0.425|0.425	0.16473|0.16473	.|.	.|0.000000	.|0.49916	.|D	.|0.000124	T|T	0.72036|0.72036	0.3411|0.3411	M|M	0.79926|0.79926	2.475|2.475	0.41950|0.41950	D|D	0.990651|0.990651	.|D;D	.|0.89917	.|0.993;1.0	.|D;D	.|0.85130	.|0.977;0.997	T|T	0.67898|0.67898	-0.5551|-0.5551	5|9	.|.	.|.	.|.	.|.	2.4518|2.4518	0.04520|0.04520	0.3972:0.1234:0.3661:0.1134|0.3972:0.1234:0.3661:0.1134	.|.	.|2053;2053	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Y|S	228|2053;60	.|ENSP00000356579:R2053S;ENSP00000409395:R60S	.|.	D|R	+|+	1|3	0|2	CEP350|CEP350	178319810|178319810	0.028000|0.028000	0.19301|0.19301	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	-0.743000|-0.743000	0.04845|0.04845	0.181000|0.181000	0.19994|0.19994	0.555000|0.555000	0.69702|0.69702	GAT|AGG		PASS	0.353	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	16	5	16	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183200120	183200120	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:183200120C>G	ENST00000264144.4	+	12	1804	c.1739C>G	c.(1738-1740)tCa>tGa	p.S580*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.S580*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	580	Laminin EGF-like 8; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.S580*(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCCATGGGCTCAGAGCCTGTA	0.483																																						uc001gqa.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1738-1740)TCA>TGA		laminin, gamma 2 isoform a precursor							176.0	159.0	165.0					1																	183200120		2203	4300	6503	SO:0001587	stop_gained	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183200120C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1739C>G	1.37:g.183200120C>G	ENSP00000264144:p.Ser580*					LAMC2_uc001gpz.3_Nonsense_Mutation_p.S580*|LAMC2_uc010poa.1_Nonsense_Mutation_p.S280*	p.S580*	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			12	2053	+			580			Laminin EGF-like 8; truncated.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	ENST00000264144.4	37	c.1739C>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600436	0.96614	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.17	5.17	0.71159	.	0.192098	0.36200	N	0.002721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7107	0.57088	0.0:0.9195:0.0:0.0805	.	.	.	.	X	580	.	ENSP00000264144:S580X	S	+	2	0	LAMC2	181466743	0.714000	0.27936	0.503000	0.27626	0.505000	0.33919	2.770000	0.47662	2.420000	0.82092	0.650000	0.86243	TCA		PASS	0.483	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		82	44	82	44	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186031077	186031077	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:186031077C>T	ENST00000271588.4	+	47	7636	c.7407C>T	c.(7405-7407)atC>atT	p.I2469I	HMCN1_ENST00000367492.2_Silent_p.I2469I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2469	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I2469I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGAAAAATCTTTGGGCTTT	0.393																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(7405-7407)ATC>ATT		hemicentin 1 precursor							126.0	140.0	135.0					1																	186031077		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186031077C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7407C>T	1.37:g.186031077C>T							p.I2469I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			47	7636	+			2469			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7407C>T	CCDS30956.1																																																																																				PASS	0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	47	12	47	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186106956	186106956	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:186106956G>C	ENST00000271588.4	+	89	14005	c.13776G>C	c.(13774-13776)tgG>tgC	p.W4592C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4592C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4592	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.W4592C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTCGGAATGGAGTCTTTGGG	0.483																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(13774-13776)TGG>TGC		hemicentin 1 precursor							178.0	174.0	176.0					1																	186106956		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106956G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13776G>C	1.37:g.186106956G>C	ENSP00000271588:p.Trp4592Cys					HMCN1_uc001grs.1_Missense_Mutation_p.W161C	p.W4592C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			89	14005	+			4592			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13776G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546951	0.65198	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64260	-0.09;-0.09	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	H	0.99811	4.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93433	0.6787	10	0.87932	D	0	.	14.9265	0.70881	0.0703:0.0:0.9297:0.0	.	4592	Q96RW7	HMCN1_HUMAN	C	4592	ENSP00000271588:W4592C;ENSP00000356462:W4592C	ENSP00000271588:W4592C	W	+	3	0	HMCN1	184373579	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.521000	0.81832	2.660000	0.90430	0.555000	0.69702	TGG		PASS	0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	109	17	109	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067721	190067721	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:190067721G>A	ENST00000367462.3	-	8	1959	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	BRINP3_ENST00000534846.1_Silent_p.F474F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	576					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.F576F(1)									GGCTGCCTCCGAAGGGATTGA	0.463																																						uc001gse.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1726-1728)TTC>TTT		family with sequence similarity 5, member C							83.0	89.0	87.0					1																	190067721		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067721G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1728C>T	1.37:g.190067721G>A						FAM5C_uc010pot.1_Silent_p.F474F	p.F576F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1960	-	Prostate(682;0.198)		576					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1728C>T	CCDS1373.1																																																																																				PASS	0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		144	52	144	52	---	---	---	---
RGS1	5996	broad.mit.edu	37	1	192547471	192547471	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:192547471G>C	ENST00000367459.3	+	4	466	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	RGS1_ENST00000469578.2_Missense_Mutation_p.E134Q	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	134	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.E134Q(1)|p.E121Q(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CTGTAAAGCAGAAGAGATATA	0.363																																						uc001gsi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(400-402)GAA>CAA		regulator of G-protein signalling 1							138.0	143.0	142.0					1																	192547471		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547471G>C	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.400G>C	1.37:g.192547471G>C	ENSP00000356429:p.Glu134Gln					RGS1_uc010pou.1_Missense_Mutation_p.E134Q	p.E134Q	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	466	+		Breast(1374;0.188)	134			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.400G>C	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859663	0.32884	.	.	ENSG00000090104	ENST00000367459	T	0.01871	4.59	5.91	4.01	0.46588	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.200634	0.44902	D	0.000414	T	0.01870	0.0059	N	0.10945	0.07	0.40587	D	0.981452	P;B	0.45715	0.865;0.036	P;B	0.46076	0.503;0.064	T	0.66300	-0.5958	10	0.46703	T	0.11	.	6.706	0.23250	0.1499:0.1535:0.6967:0.0	.	134;134	Q08116-2;Q08116	.;RGS1_HUMAN	Q	134	ENSP00000356429:E134Q	ENSP00000356429:E134Q	E	+	1	0	RGS1	190814094	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	5.280000	0.65603	1.469000	0.48083	0.650000	0.86243	GAA		PASS	0.363	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		54	215	54	215	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196227412	196227412	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:196227412C>T	ENST00000294725.9	-	26	4038	c.3123G>A	c.(3121-3123)ctG>ctA	p.L1041L	KCNT2_ENST00000367433.5_Silent_p.L1017L|KCNT2_ENST00000367431.4_Silent_p.L975L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Silent_p.L974L|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1041					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L1041L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTAGAGGTTCAGTCGCTGCT	0.453																																						uc001gtd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(3121-3123)CTG>CTA		potassium channel, subfamily T, member 2							108.0	107.0	107.0					1																	196227412		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227412C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3123G>A	1.37:g.196227412C>T						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L974L|KCNT2_uc001gtf.1_Silent_p.L1017L|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.L545L	p.L1041L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3183	-			1041			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.3123G>A	CCDS1384.1																																																																																				PASS	0.453	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		105	41	105	41	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197060090	197060090	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:197060090C>G	ENST00000367409.4	-	23	9782	c.9526G>C	c.(9526-9528)Gaa>Caa	p.E3176Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E1591Q|ASPM_ENST00000367408.1_Missense_Mutation_p.E841Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3176					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E3176Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCAGACATTCTTGACCTTCA	0.368																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(9526-9528)GAA>CAA		asp (abnormal spindle)-like, microcephaly							108.0	105.0	106.0					1																	197060090		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060090C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9526G>C	1.37:g.197060090C>G	ENSP00000356379:p.Glu3176Gln					ASPM_uc001gtv.2_Missense_Mutation_p.E1591Q|ASPM_uc001gtw.3_Missense_Mutation_p.E1024Q	p.E3176Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			23	9783	-			3176					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9526G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675184	0.47781	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.58940	0.3;1.65;1.29	5.05	3.15	0.36227	.	0.595915	0.15249	N	0.272456	T	0.47563	0.1452	M	0.70595	2.14	0.09310	N	1	P;B;B	0.35272	0.493;0.07;0.157	B;B;B	0.29785	0.107;0.014;0.097	T	0.30707	-0.9969	10	0.18276	T	0.48	.	5.6211	0.17457	0.0:0.6234:0.1476:0.229	.	1162;1591;3176	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	Q	3176;1591;841;1162	ENSP00000356379:E3176Q;ENSP00000294732:E1591Q;ENSP00000356378:E841Q	ENSP00000294732:E1591Q	E	-	1	0	ASPM	195326713	0.002000	0.14202	0.009000	0.14445	0.201000	0.24016	0.071000	0.14594	1.262000	0.44165	0.491000	0.48974	GAA		PASS	0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		37	92	37	92	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201751848	201751848	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:201751848G>T	ENST00000367296.4	+	6	2628	c.2208G>T	c.(2206-2208)cgG>cgT	p.R736R	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Silent_p.R345R|NAV1_ENST00000367302.1_Silent_p.R749R|NAV1_ENST00000367297.4_Silent_p.R736R|NAV1_ENST00000295624.6_Silent_p.R736R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.R736R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	736					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R736R(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGACAGATCGGGAAAAGGAGA	0.552																																						uc001gwu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2206-2208)CGG>CGT		neuron navigator 1							40.0	40.0	40.0					1																	201751848		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751848G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2208G>T	1.37:g.201751848G>T						NAV1_uc001gwv.1_Silent_p.R244R|NAV1_uc001gww.1_Silent_p.R345R|NAV1_uc001gwx.2_Silent_p.R345R|NAV1_uc001gwy.1_Silent_p.R117R	p.R736R	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			6	2555	+			736			Potential.		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.2208G>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012136	0.19277	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.286	9.9545	0.41657	0.0:0.1314:0.6075:0.2611	.	.	.	.	X	294	.	.	G	+	1	0	NAV1	200018471	0.683000	0.27633	0.999000	0.59377	0.996000	0.88848	-0.219000	0.09228	1.312000	0.45043	0.591000	0.81541	GGA		PASS	0.552	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		28	50	28	50	---	---	---	---
C4BPA	722	broad.mit.edu	37	1	207297617	207297617	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:207297617C>T	ENST00000367070.3	+	6	806	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	204	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D204D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACAGCTGTGACCCCCGCTTCT	0.493																																						uc001hfo.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(610-612)GAC>GAT		complement component 4 binding protein, alpha							86.0	89.0	88.0					1																	207297617		2203	4300	6503	SO:0001819	synonymous_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297617C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.612C>T	1.37:g.207297617C>T							p.D204D	NM_000715	NP_000706	P04003	C4BPA_HUMAN			6	806	+			204			Sushi 3.		Q5VVQ8	Silent	SNP	ENST00000367070.3	37	c.612C>T	CCDS1477.1																																																																																				PASS	0.493	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			28	99	28	99	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210001471	210001471	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:210001471G>A	ENST00000491415.2	+	1	120	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	21					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K21K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAAAGCAGAAGAAACATCTTC	0.552											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)AAG>AAA		digestive-organ expansion factor homolog							78.0	75.0	76.0					1																	210001471		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210001471G>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.63G>A	1.37:g.210001471G>A			OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187	C1orf107_uc009xcu.1_5'UTR	p.K21K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	1	139	+			21					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.63G>A	CCDS1493.1																																																																																				PASS	0.552	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		25	98	25	98	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216246460	216246460	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:216246460C>T	ENST00000307340.3	-	28	6141	c.5755G>A	c.(5755-5757)Ggt>Agt	p.G1919S	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1919S|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1919	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G1919S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGAGACCACCCTCGTAAACA	0.468										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5755-5757)GGT>AGT		usherin isoform B							84.0	76.0	79.0					1																	216246460		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246460C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5755G>A	1.37:g.216246460C>T	ENSP00000305941:p.Gly1919Ser	HNSCC(13;0.011)					p.G1919S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	6142	-			1919			Fibronectin type-III 5.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5755G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	7.433	0.639160	0.14386	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.37411	1.2;1.2	6.03	-3.2	0.05156	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.389323	0.21581	N	0.072250	T	0.06735	0.0172	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	10	0.02654	T	1	.	6.6335	0.22869	0.0:0.2271:0.2981:0.4748	.	1919	O75445	USH2A_HUMAN	S	1919	ENSP00000305941:G1919S;ENSP00000355910:G1919S	ENSP00000305941:G1919S	G	-	1	0	USH2A	214313083	0.077000	0.21312	0.000000	0.03702	0.810000	0.45777	0.717000	0.25851	-1.066000	0.03164	-1.851000	0.00568	GGT		PASS	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	21	37	21	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850616	216850616	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:216850616C>T	ENST00000408911.3	-	2	427	c.274G>A	c.(274-276)Gga>Aga	p.G92R	ESRRG_ENST00000391890.3_Missense_Mutation_p.G69R|ESRRG_ENST00000366938.2_Missense_Mutation_p.G69R|ESRRG_ENST00000360012.3_Missense_Mutation_p.G69R|ESRRG_ENST00000493603.1_Missense_Mutation_p.G69R|ESRRG_ENST00000487276.1_Missense_Mutation_p.G69R|ESRRG_ENST00000493748.1_Missense_Mutation_p.G69R|ESRRG_ENST00000361395.2_Missense_Mutation_p.G69R|ESRRG_ENST00000463665.1_Missense_Mutation_p.G69R|ESRRG_ENST00000366940.2_Missense_Mutation_p.G69R|ESRRG_ENST00000366937.1_Missense_Mutation_p.G97R|ESRRG_ENST00000361525.3_Missense_Mutation_p.G69R|ESRRG_ENST00000359162.2_Missense_Mutation_p.G69R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	92					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G92R(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCACTACCTCCCAGGATAGGA	0.527																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(274-276)GGA>AGA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						179.0	158.0	165.0					1																	216850616		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850616C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.274G>A	1.37:g.216850616C>T	ENSP00000386171:p.Gly92Arg					ESRRG_uc001hky.1_Missense_Mutation_p.G69R|ESRRG_uc009xdp.1_Missense_Mutation_p.G69R|ESRRG_uc001hkz.1_Missense_Mutation_p.G69R|ESRRG_uc010puc.1_Missense_Mutation_p.G69R|ESRRG_uc001hla.1_Missense_Mutation_p.G69R|ESRRG_uc001hlb.1_Missense_Mutation_p.G69R|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G69R|ESRRG_uc001hld.1_Missense_Mutation_p.G69R|ESRRG_uc001hkx.1_Missense_Mutation_p.G97R|ESRRG_uc009xdo.1_Missense_Mutation_p.G69R|ESRRG_uc001hle.1_Missense_Mutation_p.G69R	p.G92R	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	440	-			92					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.274G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687319	0.68157	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.94576	-3.12;-3.12;-3.11;-3.15;-3.12;-3.12;-3.12;-3.12;-3.12;-3.15;-3.46;-3.12;-3.12;-2.94;0.72	6.16	6.16	0.99307	.	0.203126	0.50627	D	0.000104	D	0.87645	0.6229	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.19583	0.037;0.003;0.001	B;B;B	0.15484	0.013;0.01;0.002	T	0.82950	-0.0203	10	0.07990	T	0.79	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	69;97;92	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	69;69;97;92;69;69;69;69;69;69;69;69;69;69;69;69	ENSP00000355225:G69R;ENSP00000355907:G69R;ENSP00000355904:G97R;ENSP00000386171:G92R;ENSP00000352077:G69R;ENSP00000354584:G69R;ENSP00000355905:G69R;ENSP00000353108:G69R;ENSP00000419594:G69R;ENSP00000375761:G69R;ENSP00000418629:G69R;ENSP00000419155:G69R;ENSP00000417374:G69R;ENSP00000419514:G69R;ENSP00000417900:G69R	ENSP00000346386:G69R	G	-	1	0	ESRRG	214917239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.956000	0.70315	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.527	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		47	111	47	111	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218520187	218520187	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:218520187G>A	ENST00000366930.4	+	1	611	c.144G>A	c.(142-144)ctG>ctA	p.L48L	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Silent_p.L48L	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	48					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L48L(2)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGAGCAAGCTGAAGCTCACCA	0.592																																						uc001hlm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(142-144)CTG>CTA		transforming growth factor, beta 2 isoform 2							77.0	78.0	78.0					1																	218520187		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520187G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.144G>A	1.37:g.218520187G>A						TGFB2_uc001hll.2_Silent_p.L48L|TGFB2_uc001hln.2_Silent_p.L48L|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.L48L	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	797	+			48					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.144G>A	CCDS1521.1																																																																																				PASS	0.592	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		44	94	44	94	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227400839	227400839	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:227400839C>T	ENST00000366769.3	-	3	1643	c.352G>A	c.(352-354)Gag>Aag	p.E118K	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E118K|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E118K|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E118K|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E118K|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E118K|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E118K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E118K(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACTCTTACCTCAGCTCTTTTC	0.264																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(352-354)GAG>AAG		CDC42-binding protein kinase alpha isoform B							60.0	64.0	63.0					1																	227400839		2192	4273	6465	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227400839C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.352G>A	1.37:g.227400839C>T	ENSP00000355731:p.Glu118Lys					CDC42BPA_uc001hqs.2_Missense_Mutation_p.E118K|CDC42BPA_uc009xes.2_Missense_Mutation_p.E118K|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E118K	p.E118K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			3	1295	-		all_cancers(173;0.156)|Prostate(94;0.0792)	118			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.352G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372305	0.95923	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	N	0.25957	0.775	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.987;0.999;0.983;0.992	T	0.74414	-0.3673	10	0.87932	D	0	.	17.6499	0.88161	0.0:1.0:0.0:0.0	.	118;118;118;118	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	K	118	ENSP00000355731:E118K;ENSP00000355729:E118K;ENSP00000335341:E118K;ENSP00000355728:E118K;ENSP00000355726:E118K;ENSP00000443275:E118K;ENSP00000355727:E118K	ENSP00000335341:E118K	E	-	1	0	CDC42BPA	225467462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.883000	0.75595	2.446000	0.82766	0.557000	0.71058	GAG		PASS	0.264	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		5	75	5	75	---	---	---	---
GJC2	57165	broad.mit.edu	37	1	228345504	228345504	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:228345504G>C	ENST00000366714.2	+	2	220	c.45G>C	c.(43-45)gaG>gaC	p.E15D		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	15					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.E15D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCTGGAGGAGATCCACAACC	0.677																																						uc001hsk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GAG>GAC		gap junction protein, gamma 2, 47kDa							42.0	27.0	32.0					1																	228345504		2193	4288	6481	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345504G>C	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.45G>C	1.37:g.228345504G>C	ENSP00000355675:p.Glu15Asp						p.E15D	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			2	220	+		Prostate(94;0.0405)	15			Cytoplasmic (Potential).		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.45G>C	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054536	0.36277	.	.	ENSG00000198835	ENST00000366714	D	0.99150	-5.49	4.23	3.31	0.37934	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	M	0.80422	2.495	0.47778	D	0.999514	D	0.56746	0.977	P	0.54590	0.756	D	0.98296	1.0516	10	0.72032	D	0.01	.	7.1834	0.25786	0.2704:0.0:0.7296:0.0	.	15	Q5T442	CXG2_HUMAN	D	15	ENSP00000355675:E15D	ENSP00000355675:E15D	E	+	3	2	GJC2	226412127	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	2.425000	0.44723	1.012000	0.39366	0.491000	0.48974	GAG		PASS	0.677	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		5	10	5	10	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236746418	236746418	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:236746418C>G	ENST00000366582.3	-	18	2434	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E774Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	774					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.E774Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGTTGAGCTCTTCTACATAA	0.423																																						uc001hyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2320-2322)GAG>CAG		protein BAP28							171.0	162.0	165.0					1																	236746418		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746418C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2320G>C	1.37:g.236746418C>G	ENSP00000355541:p.Glu774Gln					HEATR1_uc009xgh.1_Missense_Mutation_p.E17Q	p.E774Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2445	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	774					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2320G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.380381	0.01204	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.04654	3.59;3.58	5.56	1.24	0.21308	Armadillo-type fold (1);	0.643154	0.16712	N	0.202659	T	0.01800	0.0057	N	0.01800	-0.715	0.52099	D	0.999941	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.50759	-0.8790	10	0.16896	T	0.51	.	9.1457	0.36930	0.0:0.4475:0.3389:0.2137	.	774;774	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Q	774	ENSP00000355541:E774Q;ENSP00000355540:E774Q	ENSP00000355540:E774Q	E	-	1	0	HEATR1	234813041	0.866000	0.29940	0.695000	0.30226	0.284000	0.27059	1.122000	0.31295	0.683000	0.31428	-0.165000	0.13383	GAG		PASS	0.423	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		60	325	60	325	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237693748	237693748	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:237693748T>C	ENST00000366574.2	+	25	3161	c.2844T>C	c.(2842-2844)tgT>tgC	p.C948C	RYR2_ENST00000360064.6_Silent_p.C946C|RYR2_ENST00000542537.1_Silent_p.C932C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	948	4 X approximate repeats.				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.C946C(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)			CATTAGGATGTCATGTGGGTA	0.373																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2842-2844)TGT>TGC		cardiac muscle ryanodine receptor							98.0	94.0	95.0					1																	237693748		1882	4106	5988	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.chr1:237693748T>C	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.2844T>C	1.37:g.237693748T>C							p.C948C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		25	2964	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	948			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2844T>C	CCDS55691.1																																																																																				PASS	0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	18	4	18	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237758839	237758839	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:237758839G>A	ENST00000366574.2	+	34	4795	c.4478G>A	c.(4477-4479)aGc>aAc	p.S1493N	RYR2_ENST00000360064.6_Missense_Mutation_p.S1491N|RYR2_ENST00000542537.1_Missense_Mutation_p.S1477N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1493	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.S1491N(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)			GCGGGTGAGAGCATGAGCCCC	0.473																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4477-4479)AGC>AAC		cardiac muscle ryanodine receptor							93.0	99.0	97.0					1																	237758839		2081	4205	6286	SO:0001583	missense	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.chr1:237758839G>A	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.4478G>A	1.37:g.237758839G>A	ENSP00000355533:p.Ser1493Asn						p.S1493N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4598	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1493			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4478G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579343	0.28180	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69175	-0.38;-0.38;-0.38	5.52	3.65	0.41850	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.127433	0.49305	N	0.000157	T	0.45377	0.1339	N	0.08118	0	0.80722	D	1	B	0.26147	0.143	B	0.27262	0.078	T	0.40365	-0.9567	10	0.36615	T	0.2	.	11.5157	0.50520	0.1445:0.0:0.8555:0.0	.	1493	Q92736	RYR2_HUMAN	N	1493;1491;1477	ENSP00000355533:S1493N;ENSP00000353174:S1491N;ENSP00000443798:S1477N	ENSP00000353174:S1491N	S	+	2	0	RYR2	235825462	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.716000	0.37981	1.339000	0.45563	-0.140000	0.14226	AGC		PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		38	21	38	21	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242024771	242024771	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:242024771A>G	ENST00000366548.3	+	10	1601	c.1008A>G	c.(1006-1008)gaA>gaG	p.E336E	EXO1_ENST00000518483.1_Silent_p.E336E|EXO1_ENST00000348581.5_Silent_p.E336E	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	336	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.E336E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATACTTTTGAACAGATCGATG	0.333								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1006-1008)GAA>GAG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							76.0	77.0	77.0					1																	242024771		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242024771A>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1008A>G	1.37:g.242024771A>G						EXO1_uc001hzi.2_Silent_p.E336E|EXO1_uc001hzj.2_Silent_p.E336E|EXO1_uc009xgq.2_Silent_p.E336E	p.E336E	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		10	1548	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	336			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1008A>G	CCDS1620.1																																																																																				PASS	0.333	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		67	35	67	35	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242383356	242383356	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:242383356G>T	ENST00000536534.2	-	5	910	c.669C>A	c.(667-669)ttC>ttA	p.F223L	PLD5_ENST00000427495.1_Missense_Mutation_p.F161L|PLD5_ENST00000442594.2_Missense_Mutation_p.F131L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	223	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.F223L(1)|p.F131L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCACGATCCAGAAGGAGGACT	0.522																																						uc001hzn.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(667-669)TTC>TTA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							134.0	117.0	123.0					1																	242383356		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383356G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.669C>A	1.37:g.242383356G>T	ENSP00000440896:p.Phe223Leu					PLD5_uc001hzl.3_Missense_Mutation_p.F161L|PLD5_uc001hzm.3_Missense_Mutation_p.F13L|PLD5_uc001hzo.1_Missense_Mutation_p.F131L	p.F223L			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	796	-	Melanoma(84;0.242)		223			PLD phosphodiesterase 1.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.669C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961845	0.74016	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	5.52	0.82312	Phospholipase D/Transphosphatidylase (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	L	0.39514	1.22	0.52099	D	0.999947	D;D;P	0.89917	1.0;0.999;0.946	D;D;P	0.85130	0.997;0.994;0.585	T	0.00425	-1.1747	10	0.36615	T	0.2	-24.2014	14.9263	0.70881	0.0:0.0:1.0:0.0	.	131;223;161	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	161;131;223	ENSP00000401285:F161L;ENSP00000414188:F131L;ENSP00000440896:F223L	ENSP00000401285:F161L	F	-	3	2	PLD5	240449979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.287000	0.65645	2.591000	0.87537	0.655000	0.94253	TTC		PASS	0.522	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		56	29	56	29	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243480085	243480085	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:243480085G>C	ENST00000366541.3	+	9	1076	c.958G>C	c.(958-960)Gtt>Ctt	p.V320L	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V175L|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V320L|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V277L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	320	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.V320L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GTCTGCACTAGTTTCCGTAAG	0.408																																						uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)GTT>CTT		serologically defined colon cancer antigen 8							95.0	92.0	93.0					1																	243480085		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480085G>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.958G>C	1.37:g.243480085G>C	ENSP00000355499:p.Val320Leu					SDCCAG8_uc010pyk.1_Missense_Mutation_p.V175L|SDCCAG8_uc010pyl.1_Missense_Mutation_p.V132L|SDCCAG8_uc001hzx.2_Missense_Mutation_p.V132L	p.V320L	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1114	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	320			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.958G>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446235	0.43429	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.63	4.72	0.59763	.	0.298701	0.33110	N	0.005265	T	0.41858	0.1177	L	0.49640	1.575	0.21499	N	0.999665	B;B	0.33171	0.4;0.173	B;B	0.27170	0.077;0.069	T	0.35674	-0.9779	10	0.37606	T	0.19	-4.3882	8.5593	0.33501	0.0776:0.0:0.771:0.1515	.	277;320	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	L	277;320;320;175;100	ENSP00000348137:V277L;ENSP00000375721:V320L;ENSP00000355499:V320L;ENSP00000341260:V175L;ENSP00000410200:V100L	ENSP00000341260:V175L	V	+	1	0	SDCCAG8	241546708	0.970000	0.33590	0.551000	0.28230	0.812000	0.45895	1.621000	0.36986	1.533000	0.49186	0.655000	0.94253	GTT		PASS	0.408	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		67	39	67	39	---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245027496	245027496	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:245027496G>C	ENST00000283179.9	-	1	277	c.114C>G	c.(112-114)ctC>ctG	p.L38L	HNRNPU_ENST00000444376.2_Silent_p.L38L|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	38	Asp/Glu-rich (acidic).|SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L38L(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCGCAGCCTGGAGTCGCTCCA	0.642																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(112-114)CTC>CTG		heterogeneous nuclear ribonucleoprotein U							13.0	16.0	15.0					1																	245027496		2147	4265	6412	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027496G>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.114C>G	1.37:g.245027496G>C						HNRNPU_uc001iba.1_Silent_p.L38L|HNRNPU_uc001ibb.1_Intron	p.L38L	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	332	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		38			SAP.|Asp/Glu-rich (acidic).		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.114C>G	CCDS41479.1																																																																																				PASS	0.642	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		7	14	7	14	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247013588	247013588	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:247013588C>G	ENST00000391829.2	-	33	5843	c.5720G>C	c.(5719-5721)aGa>aCa	p.R1907T	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1916T|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R1942T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1907	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1907T(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTAGTACTTCTCAATTTTCT	0.333																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(5719-5721)AGA>ACA		transcription factor ELYS							102.0	105.0	104.0					1																	247013588		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013588C>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5720G>C	1.37:g.247013588C>G	ENSP00000375705:p.Arg1907Thr					AHCTF1_uc001ibv.1_Missense_Mutation_p.R1916T|AHCTF1_uc009xgs.1_Missense_Mutation_p.R768T|AHCTF1_uc001ibw.1_RNA	p.R1907T	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	5727	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1907			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5720G>C		.	.	.	.	.	.	.	.	.	.	C	8.566	0.878941	0.17395	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.36699	1.24;1.25;1.25	5.81	4.87	0.63330	.	0.225363	0.40385	N	0.001110	T	0.36303	0.0962	L	0.52364	1.645	0.29497	N	0.855183	D;P;B	0.56746	0.977;0.775;0.031	P;B;B	0.51016	0.656;0.295;0.006	T	0.21586	-1.0241	10	0.16420	T	0.52	-19.1517	6.8676	0.24102	0.0:0.7437:0.0:0.2563	.	768;1942;1907	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	T	1942;1916;1907	ENSP00000355464:R1942T;ENSP00000355465:R1916T;ENSP00000375705:R1907T	ENSP00000355465:R1916T	R	-	2	0	AHCTF1	245080211	0.987000	0.35691	0.136000	0.22124	0.791000	0.44710	2.375000	0.44283	1.369000	0.46134	0.655000	0.94253	AGA		PASS	0.333	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		68	174	68	174	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004562	248004562	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:248004562G>A	ENST00000355784.2	-	1	692	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213						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.L213L(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)			CCCAGTGTCAGAAAAAAACAA	0.512																																						uc001idn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(637-639)CTG>TTG		olfactory receptor, family 11, subfamily L,							82.0	85.0	84.0					1																	248004562		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004562G>A	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.637C>T	1.37:g.248004562G>A							p.L213L	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	637	-	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)		213			Helical; Name=5; (Potential).			Silent	SNP	ENST00000355784.2	37	c.637C>T	CCDS31098.1																																																																																				PASS	0.512	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		16	85	16	85	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262725	248262725	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:248262725G>T	ENST00000358120.2	+	2	193	c.48G>T	c.(46-48)ctG>ctT	p.L16L	OR2L13_ENST00000366478.2_Silent_p.L16L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16L(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGTTGGGTCTGCTTCCCCCAA	0.408																																						uc001ids.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(46-48)CTG>CTT		olfactory receptor, family 2, subfamily L,							171.0	166.0	168.0					1																	248262725		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262725G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.48G>T	1.37:g.248262725G>T							p.L16L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	385	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16			Extracellular (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.48G>T	CCDS1637.1																																																																																				PASS	0.408	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		119	81	119	81	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458198	248458198	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:248458198G>A	ENST00000317996.1	-	1	682	c.683C>T	c.(682-684)tCt>tTt	p.S228F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S228F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGCTTCTGTAGAGCGCATGAG	0.512																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(682-684)TCT>TTT		olfactory receptor, family 2, subfamily T,							119.0	107.0	111.0					1																	248458198		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458198G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.683C>T	1.37:g.248458198G>A	ENSP00000324583:p.Ser228Phe						p.S228F	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	683	-	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)		228			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.683C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	13.73	2.323353	0.41096	.	.	ENSG00000177201	ENST00000317996	T	0.00340	8.04	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.240841	0.21506	U	0.073457	T	0.01254	0.0041	H	0.97265	3.97	0.22500	N	0.99904	D	0.76494	0.999	D	0.76575	0.988	T	0.15896	-1.0421	10	0.87932	D	0	.	10.5912	0.45310	0.0:0.0:1.0:0.0	.	228	Q8NG77	O2T12_HUMAN	F	228	ENSP00000324583:S228F	ENSP00000324583:S228F	S	-	2	0	OR2T12	246524821	0.053000	0.20554	0.071000	0.20095	0.348000	0.29142	2.712000	0.47186	0.645000	0.30675	0.175000	0.17021	TCT		PASS	0.512	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		26	83	26	83	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487683	248487683	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:248487683A>T	ENST00000317965.2	-	1	216	c.188T>A	c.(187-189)cTc>cAc	p.L63H		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L63H(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CAGTTGGCTGAGGAGGAAGTA	0.532																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(187-189)CTC>CAC		olfactory receptor, family 2, subfamily M,							297.0	282.0	287.0					1																	248487683		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487683A>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.188T>A	1.37:g.248487683A>T	ENSP00000324557:p.Leu63His						p.L63H	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	188	-	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)		63			Helical; Name=2; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.188T>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376733	0.42105	.	.	ENSG00000177186	ENST00000317965	T	0.14893	2.47	1.54	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.25316	U	0.031548	T	0.56717	0.2004	H	0.99498	4.595	0.27801	N	0.942484	D	0.89917	1.0	D	0.87578	0.998	T	0.57458	-0.7808	10	0.87932	D	0	.	8.6678	0.34132	1.0:0.0:0.0:0.0	.	63	Q8NG81	OR2M7_HUMAN	H	63	ENSP00000324557:L63H	ENSP00000324557:L63H	L	-	2	0	OR2M7	246554306	1.000000	0.71417	0.990000	0.47175	0.443000	0.32047	6.906000	0.75719	0.703000	0.31848	0.155000	0.16302	CTC		PASS	0.532	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		298	122	298	122	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685325	248685325	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:248685325C>T	ENST00000343414.4	+	1	410	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V126V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCTGCTGTCTGCCGGCCAC	0.592																																						uc001ien.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(376-378)GTC>GTT		olfactory receptor, family 2, subfamily G,							69.0	63.0	65.0					1																	248685325		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685325C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.378C>T	1.37:g.248685325C>T							p.V126V	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	378	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	126			Cytoplasmic (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.378C>T	CCDS31119.1																																																																																				PASS	0.592	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		25	62	25	62	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106516	249106516	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr1:249106516C>A	ENST00000366472.5	-	7	1994	c.765G>T	c.(763-765)acG>acT	p.T255T	SH3BP5L_ENST00000411742.2_Silent_p.T223T|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	255								p.T255T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGGAGTAGCGCGTCTTGGCCT	0.667																																						uc001iew.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)ACG>ACT		SH3-binding domain protein 5-like							60.0	62.0	62.0					1																	249106516		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249106516C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.765G>T	1.37:g.249106516C>A						SH3BP5L_uc010pzp.1_Silent_p.T148T|SH3BP5L_uc010pzq.1_Silent_p.T223T|SH3BP5L_uc001iev.1_Silent_p.T136T	p.T255T	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1317	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	255			Potential.		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.765G>T	CCDS31126.1																																																																																				PASS	0.667	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		23	18	23	18	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1161261	1161261	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:1161261G>A	ENST00000308624.5	+	7	568	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	147	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.E147K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCTGGCGATGAAGTTACCAT	0.438																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(439-441)GAA>AAA		syntrophin, gamma 2							95.0	89.0	90.0					2																	1161261		1878	4123	6001	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1161261G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.439G>A	2.37:g.1161261G>A	ENSP00000311837:p.Glu147Lys					SNTG2_uc010ewi.2_Intron	p.E147K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	7	567	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	147			PDZ.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.439G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845613	0.51164	.	.	ENSG00000172554	ENST00000308624	T	0.26957	1.7	4.73	4.73	0.59995	PDZ/DHR/GLGF (4);	0.169349	0.50627	D	0.000109	T	0.25121	0.0610	L	0.39397	1.21	0.80722	D	1	P	0.40970	0.734	B	0.41666	0.363	T	0.02371	-1.1169	10	0.29301	T	0.29	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	147	Q9NY99	SNTG2_HUMAN	K	147	ENSP00000311837:E147K	ENSP00000311837:E147K	E	+	1	0	SNTG2	1151261	1.000000	0.71417	0.776000	0.31678	0.002000	0.02628	6.243000	0.72384	2.161000	0.67846	0.643000	0.83706	GAA		PASS	0.438	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		14	89	14	89	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652885	1652885	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:1652885C>T	ENST00000252804.4	-	17	2717	c.2667G>A	c.(2665-2667)atG>atA	p.M889I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	889					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.M889I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGCGAAGTCATGCCGCTGC	0.627																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2665-2667)ATG>ATA		peroxidasin precursor							25.0	28.0	27.0					2																	1652885		2139	4221	6360	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652885C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2667G>A	2.37:g.1652885C>T	ENSP00000252804:p.Met889Ile						p.M889I	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2731	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	889					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2667G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995850	0.54147	.	.	ENSG00000130508	ENST00000252804	T	0.68181	-0.31	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	L	0.53249	1.67	0.54753	D	0.999985	P	0.34909	0.475	B	0.40009	0.316	T	0.66221	-0.5978	10	0.37606	T	0.19	-56.7166	16.4769	0.84135	0.0:0.8687:0.1313:0.0	.	889	Q92626	PXDN_HUMAN	I	889	ENSP00000252804:M889I	ENSP00000252804:M889I	M	-	3	0	PXDN	1631892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.002000	0.70693	1.383000	0.46405	0.558000	0.71614	ATG		PASS	0.627	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		7	40	7	40	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1893045	1893045	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:1893045T>C	ENST00000399161.2	-	16	3235	c.2488A>G	c.(2488-2490)Agg>Ggg	p.R830G	MYT1L_ENST00000428368.2_Missense_Mutation_p.R828G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	830					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R830G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGTCTATCCTCCGGGGTTTC	0.532																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2488-2490)AGG>GGG		myelin transcription factor 1-like							86.0	89.0	88.0					2																	1893045		1974	4135	6109	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893045T>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2488A>G	2.37:g.1893045T>C	ENSP00000382114:p.Arg830Gly					MYT1L_uc002qxd.2_Missense_Mutation_p.R828G|MYT1L_uc010ewl.1_RNA	p.R830G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3315	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	830					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2488A>G		.	.	.	.	.	.	.	.	.	.	t	13.09	2.132383	0.37630	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49139	0.79;0.79	4.62	2.06	0.26882	Myelin transcription factor 1 (1);	0.168999	0.56097	D	0.000034	T	0.41511	0.1162	L	0.52905	1.665	0.44042	D	0.996773	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.29027	-1.0025	10	0.51188	T	0.08	-34.5342	11.3732	0.49713	0.0:0.0:0.4503:0.5497	.	830;828	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	830;776;828	ENSP00000382114:R830G;ENSP00000396103:R828G	ENSP00000295067:R776G	R	-	1	2	MYT1L	1872052	0.956000	0.32656	0.104000	0.21259	0.984000	0.73092	1.071000	0.30666	0.197000	0.20387	0.478000	0.44815	AGG		PASS	0.532	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		26	122	26	122	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15415804	15415804	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:15415804G>A	ENST00000281513.5	-	44	5553	c.5528C>T	c.(5527-5529)cCa>cTa	p.P1843L	NBAS_ENST00000441750.1_Missense_Mutation_p.P1723L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1843					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.P1843L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGAGAGCTTGGGGAAAGCAT	0.458																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(5527-5529)CCA>CTA		neuroblastoma-amplified protein							106.0	108.0	107.0					2																	15415804		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415804G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5528C>T	2.37:g.15415804G>A	ENSP00000281513:p.Pro1843Leu					NBAS_uc010exl.1_Missense_Mutation_p.P915L|NBAS_uc002rcd.1_RNA	p.P1843L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5554	-			1843					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5528C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.339613|4.339613	0.81911|0.81911	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10382|.	2.88;3.06|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.206639|.	0.52532|.	D|.	0.000077|.	T|.	0.73164|.	0.3552|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;P|.	0.69078|.	0.997;0.949|.	D;P|.	0.66602|.	0.945;0.548|.	T|.	0.68922|.	-0.5281|.	10|.	0.87932|.	D|.	0|.	.|.	19.9381|19.9381	0.97149|0.97149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1723;1843|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|X	1723;1843|891	ENSP00000413201:P1723L;ENSP00000281513:P1843L|.	ENSP00000281513:P1843L|.	P|Q	-|-	2|1	0|0	NBAS|NBAS	15333255|15333255	0.996000|0.996000	0.38824|0.38824	0.771000|0.771000	0.31576|0.31576	0.987000|0.987000	0.75469|0.75469	6.148000|6.148000	0.71788|0.71788	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	CCA|CAA		PASS	0.458	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		29	113	29	113	---	---	---	---
MATN3	4148	broad.mit.edu	37	2	20205673	20205673	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:20205673C>A	ENST00000407540.3	-	2	684	c.622G>T	c.(622-624)Gct>Tct	p.A208S	MATN3_ENST00000421259.2_Missense_Mutation_p.A208S|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	208	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A208S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCGAGCCGCCACCTCA	0.602																																						uc002rdl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)GCT>TCT		matrilin 3 precursor							19.0	23.0	22.0					2																	20205673		2039	4192	6231	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205673C>A	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.622G>T	2.37:g.20205673C>A	ENSP00000383894:p.Ala208Ser					MATN3_uc010exu.1_Missense_Mutation_p.A208S	p.A208S	NM_002381	NP_002372	O15232	MATN3_HUMAN			2	685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		208			VWFA.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.622G>T	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477014	0.84640	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.78126	-1.15;-1.15	5.36	4.48	0.54585	von Willebrand factor, type A (3);	0.103239	0.64402	N	0.000003	D	0.85596	0.5733	M	0.66297	2.02	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.97110	0.987;1.0	D	0.85108	0.0961	10	0.40728	T	0.16	-10.8874	13.2124	0.59832	0.0:0.9234:0.0:0.0766	.	208;208	B2CPU0;O15232	.;MATN3_HUMAN	S	208	ENSP00000383894:A208S;ENSP00000398753:A208S	ENSP00000383894:A208S	A	-	1	0	MATN3	20069154	0.997000	0.39634	0.670000	0.29842	0.753000	0.42808	4.824000	0.62701	1.413000	0.46997	0.655000	0.94253	GCT		PASS	0.602	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		13	20	13	20	---	---	---	---
APOB	338	broad.mit.edu	37	2	21242603	21242603	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:21242603C>T	ENST00000233242.1	-	19	3118	c.2991G>A	c.(2989-2991)ggG>ggA	p.G997G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	997					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G997G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGGTGTCCCCGGTCAGCG	0.527																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2989-2991)GGG>GGA		apolipoprotein B precursor	Atorvastatin(DB01076)						75.0	67.0	70.0					2																	21242603		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21242603C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2991G>A	2.37:g.21242603C>T							p.G997G	NM_000384	NP_000375	P04114	APOB_HUMAN			19	3119	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		997					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2991G>A	CCDS1703.1																																																																																				PASS	0.527	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	46	7	46	---	---	---	---
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A	rs548108916		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R635W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATAGTTCCGAGAGAATTTT	0.368																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1903-1905)CGG>TGG		apolipoprotein B precursor	Atorvastatin(DB01076)						117.0	121.0	120.0					2																	21250864		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250864G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1903C>T	2.37:g.21250864G>A	ENSP00000233242:p.Arg635Trp						p.R635W	NM_000384	NP_000375	P04114	APOB_HUMAN			14	2031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1903C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	APOB	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG		PASS	0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			62	240	62	240	---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26496613	26496613	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:26496613A>G	ENST00000317799.5	+	6	453	c.349A>G	c.(349-351)Aga>Gga	p.R117G	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.R117G|HADHB_ENST00000545822.1_Missense_Mutation_p.R95G|HADHB_ENST00000537713.1_Missense_Mutation_p.R102G	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	117			R -> G (in TFP deficiency). {ECO:0000269|PubMed:12754706}.		cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.R117G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATGTGGCTAGAGAGGTGAG	0.348																																						uc002rgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2	GRCh37	CM031200	HADHB	M		c.(349-351)AGA>GGA		mitochondrial trifunctional protein, beta							86.0	83.0	84.0					2																	26496613		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26496613A>G		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.349A>G	2.37:g.26496613A>G	ENSP00000325136:p.Arg117Gly					HADHB_uc010ykv.1_Missense_Mutation_p.R95G|HADHB_uc010ykw.1_Missense_Mutation_p.R102G|HADHB_uc002rha.2_Missense_Mutation_p.R117G|HADHB_uc010ykx.1_Missense_Mutation_p.R43G	p.R117G	NM_000183	NP_000174	P55084	ECHB_HUMAN			6	600	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117		R -> G (in TFP deficiency).			B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.349A>G	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698551	0.68386	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	5.38	4.18	0.49190	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.046531	0.85682	D	0.000000	D	0.98947	0.9642	H	0.98664	4.295	0.80722	D	1	P;B;D;P	0.89917	0.538;0.364;1.0;0.593	B;B;D;B	0.80764	0.31;0.438;0.994;0.438	D	0.98713	1.0705	10	0.87932	D	0	-17.5911	10.5913	0.45310	0.6981:0.3019:0.0:0.0	.	102;95;117;117	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	G	117;117;117;102;95;117	ENSP00000415300:R117G;ENSP00000325136:R117G;ENSP00000385411:R117G;ENSP00000444295:R102G;ENSP00000442665:R95G;ENSP00000404633:R117G	ENSP00000325136:R117G	R	+	1	2	HADHB	26350117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.037000	0.49775	2.031000	0.59945	0.460000	0.39030	AGA		PASS	0.348	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		29	52	29	52	---	---	---	---
TCF23	150921	broad.mit.edu	37	2	27372107	27372107	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:27372107C>T	ENST00000296096.5	+	1	236	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	36					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)		p.R36C(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAGGAGCCGCCTCAGCAG	0.652																																						uc010ylg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CGC>TGC		transcription factor 23							32.0	27.0	28.0					2																	27372107		2177	4278	6455	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372107C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.106C>T	2.37:g.27372107C>T	ENSP00000296096:p.Arg36Cys						p.R36C	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			1	106	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		36					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.106C>T	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308517	0.60305	.	.	ENSG00000163792	ENST00000296096;ENST00000407815	D	0.97906	-4.6	4.79	3.84	0.44239	.	0.434585	0.19809	N	0.105579	D	0.95198	0.8443	M	0.61703	1.905	0.36976	D	0.894083	D	0.61697	0.99	B	0.37422	0.249	D	0.95959	0.8960	10	0.72032	D	0.01	-2.7612	10.4386	0.44450	0.0:0.8018:0.1982:0.0	.	36	Q7RTU1	TCF23_HUMAN	C	36	ENSP00000296096:R36C	ENSP00000296096:R36C	R	+	1	0	TCF23	27225611	0.359000	0.24955	0.937000	0.37676	0.700000	0.40528	0.261000	0.18442	2.374000	0.81015	0.462000	0.41574	CGC		PASS	0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		3	14	3	14	---	---	---	---
CAD	790	broad.mit.edu	37	2	27446828	27446828	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:27446828G>C	ENST00000403525.1	+	8	1183	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	CAD_ENST00000264705.4_Missense_Mutation_p.E347Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E347Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGATATGGAACTGCTTTT	0.507																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1039-1041)GAA>CAA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						173.0	171.0	172.0					2																	27446828		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446828G>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1039G>C	2.37:g.27446828G>C	ENSP00000384510:p.Glu347Gln					CAD_uc010eyw.2_Missense_Mutation_p.E347Q	p.E347Q	NM_004341	NP_004332	P27708	PYR1_HUMAN			8	1201	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347			Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1039G>C		.	.	.	.	.	.	.	.	.	.	G	29.1	4.977421	0.92982	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.89875	-2.58;-2.58	5.45	5.45	0.79879	Pre-ATP-grasp fold (1);Glutamine amidotransferase type 1 (2);	0.061432	0.64402	D	0.000003	D	0.95227	0.8452	M	0.90483	3.12	0.47276	D	0.999377	D;D	0.89917	1.0;0.992	D;P	0.79108	0.992;0.857	D	0.95843	0.8868	10	0.87932	D	0	-0.356	14.7681	0.69654	0.0:0.0:1.0:0.0	.	347;347	F8VPD4;P27708	.;PYR1_HUMAN	Q	347	ENSP00000264705:E347Q;ENSP00000384510:E347Q	ENSP00000264705:E347Q	E	+	1	0	CAD	27300332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.924000	0.92827	2.559000	0.86315	0.491000	0.48974	GAA		PASS	0.507	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			84	405	84	405	---	---	---	---
YIPF4	84272	broad.mit.edu	37	2	32517379	32517379	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:32517379C>G	ENST00000238831.4	+	3	613	c.367C>G	c.(367-369)Ctt>Gtt	p.L123V		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	123						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.L123V(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGCTGTTGTTCTTTTCTTTTC	0.318																																						uc002rok.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CTT>GTT		Yip1 domain family, member 4							130.0	126.0	127.0					2																	32517379		2203	4300	6503	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32517379C>G	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.367C>G	2.37:g.32517379C>G	ENSP00000238831:p.Leu123Val						p.L123V	NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN			3	634	+	Acute lymphoblastic leukemia(172;0.155)		123			Helical; (Potential).			Missense_Mutation	SNP	ENST00000238831.4	37	c.367C>G	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695468	0.48202	.	.	ENSG00000119820	ENST00000238831	T	0.49720	0.77	5.27	5.27	0.74061	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	L	0.33624	1.015	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.52548	-0.8561	10	0.29301	T	0.29	.	19.2462	0.93904	0.0:1.0:0.0:0.0	.	123	Q9BSR8	YIPF4_HUMAN	V	123	ENSP00000238831:L123V	ENSP00000238831:L123V	L	+	1	0	YIPF4	32370883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.311000	0.78958	2.619000	0.88677	0.650000	0.86243	CTT		PASS	0.318	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		21	127	21	127	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33411937	33411937	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:33411937C>G	ENST00000404816.2	+	6	1569	c.1216C>G	c.(1216-1218)Cca>Gca	p.P406A	LTBP1_ENST00000390003.4_Missense_Mutation_p.P80A|LTBP1_ENST00000402934.1_Missense_Mutation_p.P80A|LTBP1_ENST00000354476.3_Missense_Mutation_p.P406A|LTBP1_ENST00000418533.2_Missense_Mutation_p.P80A|LTBP1_ENST00000404525.1_Missense_Mutation_p.P80A|LTBP1_ENST00000407925.1_Missense_Mutation_p.P80A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	406	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P406A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTGCCATCTTCCATGTATGAA	0.433																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1216-1218)CCA>GCA		latent transforming growth factor beta binding							84.0	82.0	83.0					2																	33411937		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33411937C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1216C>G	2.37:g.33411937C>G	ENSP00000386043:p.Pro406Ala					LTBP1_uc002rot.2_Missense_Mutation_p.P80A|LTBP1_uc002rou.2_Missense_Mutation_p.P80A|LTBP1_uc002rov.2_Missense_Mutation_p.P80A|LTBP1_uc010ymz.1_Missense_Mutation_p.P80A|LTBP1_uc010yna.1_Missense_Mutation_p.P80A	p.P406A	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1216	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	406			EGF-like 2.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1216C>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359684	0.82353	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.3	5.3	0.74995	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95680	0.8595	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.994;0.974;0.999;0.999	D	0.95925	0.8934	9	0.72032	D	0.01	.	18.9638	0.92687	0.0:1.0:0.0:0.0	.	406;80;80;80;80;406	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	A	406;406;95;80;80;80;80;80	ENSP00000386043:P406A;ENSP00000346467:P406A;ENSP00000374653:P80A;ENSP00000393057:P80A;ENSP00000384373:P80A;ENSP00000385359:P80A;ENSP00000384091:P80A	ENSP00000346467:P406A	P	+	1	0	LTBP1	33265441	1.000000	0.71417	0.980000	0.43619	0.923000	0.55619	7.191000	0.77763	2.468000	0.83385	0.655000	0.94253	CCA		PASS	0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		9	62	9	62	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33783912	33783912	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:33783912G>T	ENST00000403687.3	+	17	2619	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.D626Y|RASGRP3_ENST00000402538.3_Missense_Mutation_p.D627Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	627					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.D627Y(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGCTGGGGGGACTCGGGGTC	0.552																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(1879-1881)GAC>TAC		RAS guanyl releasing protein 3 (calcium and							58.0	60.0	59.0					2																	33783912		1883	4117	6000	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783912G>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1879G>T	2.37:g.33783912G>T	ENSP00000384192:p.Asp627Tyr					RASGRP3_uc010ync.1_Missense_Mutation_p.D627Y|RASGRP3_uc002roy.2_Missense_Mutation_p.D626Y	p.D627Y	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			18	2506	+	all_hematologic(175;0.115)		627					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1879G>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976373	0.74360	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.80214	-1.35;-1.35;-1.35	5.59	4.72	0.59763	.	0.110829	0.64402	D	0.000015	T	0.66684	0.2814	N	0.08118	0	0.46823	D	0.999219	P;P	0.44090	0.826;0.826	B;B	0.41723	0.365;0.365	T	0.72858	-0.4165	10	0.59425	D	0.04	-15.8063	14.5058	0.67752	0.0705:0.0:0.9295:0.0	.	626;627	D6W583;Q8IV61	.;GRP3_HUMAN	Y	627;627;626	ENSP00000385886:D627Y;ENSP00000384192:D627Y;ENSP00000383917:D626Y	ENSP00000385886:D627Y	D	+	1	0	RASGRP3	33637416	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	7.252000	0.78309	1.360000	0.45960	-0.145000	0.13849	GAC		PASS	0.552	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		13	97	13	97	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37227735	37227735	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:37227735G>T	ENST00000233099.5	-	33	5634	c.5539C>A	c.(5539-5541)Caa>Aaa	p.Q1847K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1758K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1847						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.Q1847K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTACCTGGTTGAGAATATTCC	0.383																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(5539-5541)CAA>AAA		HEAT repeat containing 5B							101.0	97.0	98.0					2																	37227735		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37227735G>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5539C>A	2.37:g.37227735G>T	ENSP00000233099:p.Gln1847Lys					HEATR5B_uc002rpo.1_Missense_Mutation_p.Q160K|HEATR5B_uc010ezy.1_Missense_Mutation_p.Q342K	p.Q1847K	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			33	5635	-		all_hematologic(82;0.21)	1847					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5539C>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206897	0.09704	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.64438	-0.1;-0.1	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.057390	0.64402	D	0.000001	T	0.43411	0.1246	N	0.13043	0.29	0.22081	N	0.999374	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11251	-1.0595	10	0.02654	T	1	-12.3301	18.6774	0.91534	0.0:0.0:1.0:0.0	.	1847;1847	Q9P2D3;B9EK47	HTR5B_HUMAN;.	K	1847;1758	ENSP00000233099:Q1847K;ENSP00000346531:Q1758K	ENSP00000233099:Q1847K	Q	-	1	0	HEATR5B	37081239	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.443000	0.66581	2.409000	0.81822	0.591000	0.81541	CAA		PASS	0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	161	5	161	---	---	---	---
NDUFAF7	55471	broad.mit.edu	37	2	37475350	37475350	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:37475350C>A	ENST00000002125.4	+	10	1223	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.P297T	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	395					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.P395T(1)									GTTAATGAATCCAAAGAAGAT	0.363																																						uc002rqa.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1183-1185)CCA>ACA		hypothetical protein LOC55471 isoform 1							125.0	119.0	121.0					2																	37475350		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37475350C>A		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.1183C>A	2.37:g.37475350C>A	ENSP00000002125:p.Pro395Thr					C2orf56_uc002rqc.3_Missense_Mutation_p.P297T|C2orf56_uc010ynk.1_Missense_Mutation_p.P324T|C2orf56_uc010ynl.1_Missense_Mutation_p.P368T|C2orf56_uc010fah.2_RNA	p.P395T	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			10	1258	+		all_hematologic(82;0.21)	395					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.1183C>A	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497096	0.44352	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.79554	-1.28;-1.28	5.76	4.79	0.61399	.	0.219572	0.47852	D	0.000210	T	0.80613	0.4656	M	0.76574	2.34	0.52099	D	0.999947	P;B;B;B	0.35226	0.491;0.444;0.243;0.284	B;B;B;B	0.38985	0.196;0.272;0.287;0.196	T	0.80144	-0.1505	10	0.56958	D	0.05	-13.7122	9.9317	0.41525	0.0:0.7878:0.1348:0.0774	.	368;324;297;395	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	T	395;297	ENSP00000002125:P395T;ENSP00000337431:P297T	ENSP00000002125:P395T	P	+	1	0	C2orf56	37328854	0.767000	0.28508	0.994000	0.49952	0.985000	0.73830	1.508000	0.35769	1.263000	0.44181	0.591000	0.81541	CCA		PASS	0.363	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		28	148	28	148	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43937375	43937375	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:43937375C>T	ENST00000282406.4	+	13	2230	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	707	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.S707F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGAAAAATCTGGTTATTTA	0.348																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2119-2121)TCT>TTT		pleckstrin homology domain containing, family H							99.0	109.0	106.0					2																	43937375		2198	4298	6496	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937375C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2120C>T	2.37:g.43937375C>T	ENSP00000282406:p.Ser707Phe					PLEKHH2_uc002rte.3_Missense_Mutation_p.S707F|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S706F	p.S707F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			13	2203	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	707			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2120C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298892	0.81025	.	.	ENSG00000152527	ENST00000282406	T	0.04758	3.56	5.02	5.02	0.67125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.99;0.994;0.999	T	0.51671	-0.8676	10	0.87932	D	0	-16.9453	18.3411	0.90305	0.0:1.0:0.0:0.0	.	707;144;707	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	F	707	ENSP00000282406:S707F	ENSP00000282406:S707F	S	+	2	0	PLEKHH2	43790879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.312000	0.78011	0.563000	0.77884	TCT		PASS	0.348	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		38	146	38	146	---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44065709	44065709	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:44065709C>A	ENST00000260645.1	-	1	249	c.110G>T	c.(109-111)aGc>aTc	p.S37I	ABCG8_ENST00000272286.2_5'Flank|ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	37					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.S37I(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GATGCCCAGGCTGTGAGGCTC	0.672																																						uc002rtn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)AGC>ATC		ATP-binding cassette sub-family G member 5							11.0	13.0	12.0					2																	44065709		2198	4285	6483	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44065709C>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.110G>T	2.37:g.44065709C>A	ENSP00000260645:p.Ser37Ile					ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	p.S37I	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			1	250	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	37			Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.110G>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095677	0.36952	.	.	ENSG00000138075	ENST00000260645	D	0.90261	-2.64	4.67	4.67	0.58626	.	5.990070	0.01112	U	0.005588	D	0.85745	0.5768	N	0.12961	0.28	0.80722	D	1	P	0.45902	0.868	B	0.39876	0.312	T	0.75054	-0.3453	10	0.56958	D	0.05	.	12.9426	0.58354	0.0:1.0:0.0:0.0	.	37	Q9H222	ABCG5_HUMAN	I	37	ENSP00000260645:S37I	ENSP00000260645:S37I	S	-	2	0	ABCG5	43919213	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	4.376000	0.59556	2.423000	0.82170	0.462000	0.41574	AGC		PASS	0.672	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		8	26	8	26	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48925888	48925888	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:48925888G>T	ENST00000294954.7	-	9	753	c.732C>A	c.(730-732)tcC>tcA	p.S244S	LHCGR_ENST00000401907.1_Silent_p.S244S|LHCGR_ENST00000403273.1_Silent_p.S244S|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000405626.1_Silent_p.S244S|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	244					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.S244S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCCTCTGAATGGACTCTAGGC	0.413																																						uc002rwu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(730-732)TCC>TCA		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						74.0	78.0	77.0					2																	48925888		2203	4300	6503	SO:0001819	synonymous_variant	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925888G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.732C>A	2.37:g.48925888G>T						GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.S244S	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	802	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	244			Extracellular (Potential).|LRR 6.		Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.732C>A	CCDS1842.1																																																																																				PASS	0.413	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		31	58	31	58	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51254958	51254958	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:51254958C>T	ENST00000406316.2	-	2	1930	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	NRXN1_ENST00000404971.1_Missense_Mutation_p.G152S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G152S|NRXN1_ENST00000406859.3_Missense_Mutation_p.G152S|NRXN1_ENST00000402717.3_Missense_Mutation_p.G152S|NRXN1_ENST00000405581.1_Missense_Mutation_p.G152S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G152S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	152	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G152S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGAAAAGGCCGCTGAACACC	0.672																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(454-456)GGC>AGC		neurexin 1 isoform alpha2 precursor							26.0	32.0	30.0					2																	51254958		2131	4245	6376	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254958C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.454G>A	2.37:g.51254958C>T	ENSP00000384311:p.Gly152Ser					NRXN1_uc002rxe.3_Missense_Mutation_p.G152S|NRXN1_uc002rxd.1_Missense_Mutation_p.G152S	p.G152S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1931	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.454G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400924	0.42613	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.97	3.18	0.36537	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.368496	0.18179	U	0.149217	T	0.57695	0.2071	L	0.28115	0.83	0.28591	N	0.909623	B;B;B	0.30914	0.024;0.027;0.3	B;B;B	0.25140	0.014;0.013;0.058	T	0.51092	-0.8749	10	0.42905	T	0.14	.	8.6141	0.33820	0.0:0.7651:0.0:0.2349	.	152;152;152	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	S	152	ENSP00000385142:G152S;ENSP00000384311:G152S;ENSP00000434015:G152S;ENSP00000385017:G152S;ENSP00000385434:G152S;ENSP00000385681:G152S;ENSP00000385310:G152S	ENSP00000385017:G152S	G	-	1	0	NRXN1	51108462	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	1.884000	0.39668	0.509000	0.28195	-0.253000	0.11424	GGC		PASS	0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	31	10	31	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54127089	54127089	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:54127089C>G	ENST00000404125.1	-	29	3406	c.3351G>C	c.(3349-3351)caG>caC	p.Q1117H	PSME4_ENST00000421748.2_Missense_Mutation_p.Q261H	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Q1003H(1)|p.Q1117H(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TAAGCAATATCTGGTTGATAG	0.348																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(3349-3351)CAG>CAC		proteasome (prosome, macropain) activator							182.0	183.0	183.0					2																	54127089		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54127089C>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3351G>C	2.37:g.54127089C>G	ENSP00000384211:p.Gln1117His					PSME4_uc010yop.1_Missense_Mutation_p.Q1003H|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.Q492H|PSME4_uc010fbv.1_Missense_Mutation_p.Q261H	p.Q1117H	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		29	3407	-			1117					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3351G>C	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343049	0.24339	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.24538	1.85;1.86	5.63	3.83	0.44106	Armadillo-type fold (1);	0.620069	0.17689	N	0.165347	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	P;B;B	0.35745	0.518;0.194;0.122	B;B;B	0.36766	0.232;0.021;0.009	T	0.20240	-1.0281	10	0.13853	T	0.58	.	7.5999	0.28069	0.0:0.6251:0.2288:0.1461	.	492;261;1117	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	H	261;1117	ENSP00000410830:Q261H;ENSP00000384211:Q1117H	ENSP00000384211:Q1117H	Q	-	3	2	PSME4	53980593	0.000000	0.05858	0.956000	0.39512	0.965000	0.64279	0.275000	0.18698	1.398000	0.46701	0.655000	0.94253	CAG		PASS	0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		39	222	39	222	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55804451	55804451	+	Splice_Site	SNP	C	C	A	rs143373895	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:55804451C>A	ENST00000345102.5	-	11	1907	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	SMEK2_ENST00000272313.5_Splice_Site_p.G504C|SMEK2_ENST00000407823.3_Splice_Site_p.D504Y	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	536					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.D536Y(1)|p.G504C(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATACTTACCGGGACAAATT	0.249																																						uc002rzc.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1606-1608)GAT>TAT		SMEK homolog 2, suppressor of mek1 isoform 1							40.0	41.0	41.0					2																	55804451		2190	4269	6459	SO:0001630	splice_region_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55804451C>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1606+1G>T	2.37:g.55804451C>A						SMEK2_uc002rzb.2_Missense_Mutation_p.G504C|SMEK2_uc002rzd.2_Missense_Mutation_p.D504Y|SMEK2_uc002rza.2_Missense_Mutation_p.G380C	p.D536Y	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1981	-			536					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1606G>T	CCDS46289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.344328|3.344328	0.61073|0.61073	.|.	.|.	ENSG00000138041|ENSG00000138041	ENST00000407823;ENST00000345102|ENST00000272313	T;T|T	0.54279|0.37235	0.58;0.58|1.21	5.68|5.68	5.68|5.68	0.88126|0.88126	Armadillo-type fold (1);|.	0.047821|.	0.85682|.	D|.	0.000000|.	T|T	0.44705|0.44705	0.1306|0.1306	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;P|P	0.63880|0.40230	0.993;0.836|0.708	D;B|P	0.67548|0.46389	0.952;0.371|0.515	T|T	0.11916|0.11916	-1.0568|-1.0568	8|7	.|.	.|.	.|.	-5.2404|-5.2404	18.7703|18.7703	0.91888|0.91888	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504;536|504	Q5MIZ7-2;Q5MIZ7|Q5MIZ7-3	.;P4R3B_HUMAN|.	Y|C	504;536|504	ENSP00000385912:D504Y;ENSP00000339769:D536Y|ENSP00000272313:G504C	.|.	D|G	-|-	1|1	0|0	SMEK2|SMEK2	55657955|55657955	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.302000|0.302000	0.27658|0.27658	5.328000|5.328000	0.65887|0.65887	2.682000|2.682000	0.91365|0.91365	0.655000|0.655000	0.94253|0.94253	GAT|GGT		PASS	0.249	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	Missense_Mutation	13	60	13	60	---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61753653	61753653	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:61753653T>C	ENST00000401558.2	-	3	857	c.130A>G	c.(130-132)Aga>Gga	p.R44G	XPO1_ENST00000406957.1_Missense_Mutation_p.R44G|XPO1_ENST00000404992.2_Missense_Mutation_p.R44G|XPO1_ENST00000481214.1_5'UTR	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	44	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R44G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAGCCATTCTTTGCTAAAAT	0.303			Mis		CLL																																	uc002sbj.2			-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(130-132)AGA>GGA		exportin 1							78.0	79.0	78.0					2																	61753653		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61753653T>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.130A>G	2.37:g.61753653T>C	ENSP00000384863:p.Arg44Gly					XPO1_uc010fcl.2_Missense_Mutation_p.R40G|XPO1_uc010ypn.1_Missense_Mutation_p.R40G|XPO1_uc002sbk.2_5'UTR	p.R44G	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		3	858	-			44			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.130A>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588757	0.46110	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957;ENST00000451765;ENST00000443240;ENST00000420673;ENST00000422552;ENST00000457483;ENST00000449444;ENST00000436018	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	L	0.57536	1.79	0.54753	D	0.999981	P	0.46952	0.887	B	0.35353	0.201	T	0.65368	-0.6185	10	0.42905	T	0.14	-18.9111	15.9738	0.80044	0.0:0.0:0.0:1.0	.	44	O14980	XPO1_HUMAN	G	44	ENSP00000384863:R44G;ENSP00000385942:R44G;ENSP00000385559:R44G;ENSP00000413853:R44G;ENSP00000406428:R44G;ENSP00000393484:R44G;ENSP00000408190:R44G;ENSP00000394951:R44G;ENSP00000406819:R44G	ENSP00000384863:R44G	R	-	1	2	XPO1	61607157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.679000	0.46909	2.165000	0.68154	0.528000	0.53228	AGA		PASS	0.303	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		16	80	16	80	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71060876	71060876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:71060876C>A	ENST00000410009.3	-	3	511	c.466G>T	c.(466-468)Gag>Tag	p.E156*		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	156					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.E156*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTTTTAACTCTGGGATTTGG	0.438																																						uc002shg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(466-468)GAG>TAG		CD207 antigen, langerin							115.0	102.0	106.0					2																	71060876		1852	4109	5961	SO:0001587	stop_gained	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060876C>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.466G>T	2.37:g.71060876C>A	ENSP00000386378:p.Glu156*						p.E156*	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			3	513	-			156			Potential.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000410009.3	37	c.466G>T		.	.	.	.	.	.	.	.	.	.	C	12.45	1.941826	0.34283	.	.	ENSG00000116031	ENST00000410009	.	.	.	4.23	2.41	0.29592	.	0.651645	0.14393	N	0.322374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	5.3861	0.16218	0.1978:0.6993:0.0:0.1029	.	.	.	.	X	156	.	ENSP00000386378:E156X	E	-	1	0	CD207	70914384	0.877000	0.30153	0.096000	0.21009	0.016000	0.09150	1.884000	0.39668	0.710000	0.31997	0.655000	0.94253	GAG		PASS	0.438	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		21	104	21	104	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71753408	71753408	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:71753408C>A	ENST00000258104.3	+	12	1389	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	DYSF_ENST00000409762.1_Missense_Mutation_p.P402H|DYSF_ENST00000409582.3_Missense_Mutation_p.P402H|DYSF_ENST00000413539.2_Missense_Mutation_p.P402H|DYSF_ENST00000409744.1_Missense_Mutation_p.P372H|DYSF_ENST00000410020.3_Missense_Mutation_p.P403H|DYSF_ENST00000429174.2_Missense_Mutation_p.P371H|DYSF_ENST00000394120.2_Missense_Mutation_p.P372H|DYSF_ENST00000409366.1_Missense_Mutation_p.P372H|DYSF_ENST00000409651.1_Missense_Mutation_p.P403H|DYSF_ENST00000410041.1_Missense_Mutation_p.P403H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	371	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.P403H(1)|p.P371H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGCTCCGGCCCACAGGCGTA	0.592																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1111-1113)CCC>CAC		dysferlin isoform 8							140.0	152.0	148.0					2																	71753408		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71753408C>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1112C>A	2.37:g.71753408C>A	ENSP00000258104:p.Pro371His					DYSF_uc010feg.2_Missense_Mutation_p.P402H|DYSF_uc010feh.2_Missense_Mutation_p.P371H|DYSF_uc002sig.3_Missense_Mutation_p.P371H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P371H|DYSF_uc010fef.2_Missense_Mutation_p.P402H|DYSF_uc010fei.2_Missense_Mutation_p.P402H|DYSF_uc010fek.2_Missense_Mutation_p.P403H|DYSF_uc010fej.2_Missense_Mutation_p.P372H|DYSF_uc010fel.2_Missense_Mutation_p.P372H|DYSF_uc010feo.2_Missense_Mutation_p.P403H|DYSF_uc010fem.2_Missense_Mutation_p.P372H|DYSF_uc010fen.2_Missense_Mutation_p.P403H|DYSF_uc002sif.2_Missense_Mutation_p.P372H	p.P371H	NM_003494	NP_003485	O75923	DYSF_HUMAN			12	1488	+			371			Cytoplasmic (Potential).|C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1112C>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772270	0.69992	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.33	5.33	0.75918	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;0.998;0.998;0.997;1.0;0.998;1.0;1.0;1.0;1.0	D	0.98722	1.0709	10	0.87932	D	0	-25.7571	16.8855	0.86075	0.0:1.0:0.0:0.0	.	403;403;372;372;403;372;402;371;402;402;371;371;372;371	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	402;402;402;371;371;403;372;372;372;403;403	ENSP00000407046:P402H;ENSP00000387137:P402H;ENSP00000386547:P402H;ENSP00000398305:P371H;ENSP00000258104:P371H;ENSP00000386683:P403H;ENSP00000377678:P372H;ENSP00000386285:P372H;ENSP00000386512:P372H;ENSP00000386881:P403H;ENSP00000386617:P403H	ENSP00000258104:P371H	P	+	2	0	DYSF	71606916	1.000000	0.71417	0.966000	0.40874	0.256000	0.26092	7.506000	0.81665	2.664000	0.90586	0.650000	0.86243	CCC		PASS	0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		37	341	37	341	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73635786	73635786	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:73635786G>A	ENST00000264448.6	+	2	472	c.361G>A	c.(361-363)Gta>Ata	p.V121I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V121I|ALMS1_ENST00000409009.1_Intron	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	121					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.V121I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCAACAGATAGTATATCAAGG	0.363																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(364-366)GTA>ATA		Alstrom syndrome 1							129.0	116.0	120.0					2																	73635786		1861	4112	5973	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73635786G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.361G>A	2.37:g.73635786G>A	ENSP00000264448:p.Val121Ile					ALMS1_uc002sjf.1_Intron	p.V122I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			3	475	+			121					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.364G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	0.944	-0.708506	0.03230	.	.	ENSG00000116127	ENST00000264448;ENST00000377715	T;T	0.14516	3.38;2.5	3.71	-0.232	0.13082	.	2.047540	0.03181	N	0.171982	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31194	-0.9952	10	0.30854	T	0.27	.	4.2785	0.10820	0.0:0.124:0.4145:0.4615	.	121	Q8TCU4	ALMS1_HUMAN	I	121	ENSP00000264448:V121I;ENSP00000366944:V121I	ENSP00000264448:V121I	V	+	1	0	ALMS1	73489294	0.001000	0.12720	0.005000	0.12908	0.030000	0.12068	-1.010000	0.03656	-0.030000	0.13804	-0.386000	0.06593	GTA		PASS	0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		45	68	45	68	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73716778	73716778	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:73716778G>T	ENST00000264448.6	+	10	7800	c.7689G>T	c.(7687-7689)cgG>cgT	p.R2563R	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.R2521R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2563					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R2563R(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAGTCCACGGGGAATGGGAT	0.373																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7693-7695)CGG>CGT		Alstrom syndrome 1							135.0	126.0	129.0					2																	73716778		1900	4107	6007	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73716778G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7689G>T	2.37:g.73716778G>T						ALMS1_uc002sjf.1_Silent_p.R2521R|ALMS1_uc002sjg.2_Silent_p.R1951R|ALMS1_uc002sjh.1_Silent_p.R1951R	p.R2565R	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	7806	+			2563					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.7695G>T	CCDS42697.1																																																																																				PASS	0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	229	7	229	---	---	---	---
Unknown	0	broad.mit.edu	37	2	73927788	73927788	+	IGR	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:73927788G>A								ALMS1P (15085 upstream) : TPRKB (29168 downstream)																							GGTGATAGATGAAATGAACTG	0.517																																						uc002sjk.1																			0					0						c.(643-645)TTC>TTT		N-acetyltransferase 8B							46.0	51.0	49.0					2																	73927788		2203	4300	6503	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73927788G>A																													2.37:g.73927788G>A							p.F215F	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			3	680	-			215						Silent	SNP		37	c.645C>T																																																																																				0	PASS	0.517									13	63	13	63	---	---	---	---
STAMBP	10617	broad.mit.edu	37	2	74087236	74087236	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:74087236G>A	ENST00000394070.2	+	9	1679	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	STAMBP_ENST00000409707.1_Silent_p.Q392Q|STAMBP_ENST00000394073.1_Silent_p.Q392Q|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Silent_p.Q392Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	392					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.Q392Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CCTGTCGCCAGAAAGGATTTC	0.433																																						uc002sjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1174-1176)CAG>CAA		STAM binding protein							103.0	90.0	94.0					2																	74087236		2203	4300	6503	SO:0001819	synonymous_variant	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74087236G>A	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1176G>A	2.37:g.74087236G>A						STAMBP_uc002sjt.2_Silent_p.Q392Q|STAMBP_uc002sju.2_Silent_p.Q392Q|STAMBP_uc002sjv.2_Silent_p.Q392Q	p.Q392Q	NM_201647	NP_964010	O95630	STABP_HUMAN			9	1226	+			392					B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	c.1176G>A	CCDS1929.1																																																																																				PASS	0.433	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		28	109	28	109	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74128523	74128523	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:74128523C>T	ENST00000409624.1	+	3	728	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	ACTG2_ENST00000409731.3_Missense_Mutation_p.R29W|ACTG2_ENST00000345517.3_Missense_Mutation_p.R29W|ACTG2_ENST00000409918.1_Missense_Mutation_p.R29W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	29					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R29W(1)		large_intestine(3)|lung(14)|skin(1)	18						TGATGCCCCCCGGGCTGTCTT	0.617																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)CGG>TGG		actin, gamma 2 propeptide							65.0	61.0	62.0					2																	74128523		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128523C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.85C>T	2.37:g.74128523C>T	ENSP00000386857:p.Arg29Trp					ACTG2_uc010fex.1_Missense_Mutation_p.R29W|ACTG2_uc010fey.2_Missense_Mutation_p.R29W|ACTG2_uc010yrn.1_Missense_Mutation_p.R29W	p.R29W	NM_001615	NP_001606	P63267	ACTH_HUMAN			2	207	+			29					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.85C>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094238	0.56075	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.97575	-4.44;-3.62;-3.62;-3.62;-3.62	3.93	3.01	0.34805	.	0.000000	0.64402	D	0.000008	D	0.99013	0.9663	H	0.99042	4.41	0.46954	D	0.999267	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.99;0.999;0.981	D	0.98556	1.0639	10	0.87932	D	0	.	11.5963	0.50975	0.1869:0.8131:0.0:0.0	.	29;29;29	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	W	29	ENSP00000386929:R29W;ENSP00000295137:R29W;ENSP00000387182:R29W;ENSP00000410020:R29W;ENSP00000386857:R29W	ENSP00000295137:R29W	R	+	1	2	ACTG2	73982031	0.690000	0.27699	1.000000	0.80357	0.840000	0.47671	0.560000	0.23500	0.940000	0.37473	0.305000	0.20034	CGG		PASS	0.617	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		23	94	23	94	---	---	---	---
MTHFD2	10797	broad.mit.edu	37	2	74425790	74425790	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:74425790T>C	ENST00000394053.2	+	1	102	c.22T>C	c.(22-24)Tct>Cct	p.S8P	MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.S8P|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.S8P	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	8					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.S8P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TTCTCTAATGTCTGCTTTGGC	0.687																																						uc002skk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TCT>CCT		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						13.0	16.0	15.0					2																	74425790		1958	4130	6088	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74425790T>C	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.22T>C	2.37:g.74425790T>C	ENSP00000377617:p.Ser8Pro					MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_5'UTR|MTHFD2_uc010ffb.2_Missense_Mutation_p.S8P|MTHFD2_uc010yrp.1_5'UTR	p.S8P	NM_006636	NP_006627	P13995	MTDC_HUMAN			1	101	+			8					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.22T>C	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550537	0.27739	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.52526	1.8;0.66;1.67	4.58	0.957	0.19613	.	0.653207	0.13622	N	0.374330	T	0.25938	0.0632	N	0.19112	0.55	0.20873	N	0.999832	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16158	-1.0412	10	0.46703	T	0.11	.	1.4117	0.02292	0.1631:0.1017:0.2157:0.5195	.	8;8	B8ZZU9;P13995	.;MTDC_HUMAN	P	8	ENSP00000377617:S8P;ENSP00000386536:S8P;ENSP00000386542:S8P	ENSP00000377617:S8P	S	+	1	0	MTHFD2	74279298	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.389000	0.07342	0.167000	0.19631	0.482000	0.46254	TCT		PASS	0.687	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			14	32	14	32	---	---	---	---
INO80B	83444	broad.mit.edu	37	2	74682983	74682983	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:74682983C>T	ENST00000233331.7	+	3	384	c.290C>T	c.(289-291)tCa>tTa	p.S97L	WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.S97L|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	97					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S97L(1)|p.S84L(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGGCCTCGCTCACCCTCTCCC	0.547																																						uc002slg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(289-291)TCA>TTA		high mobility group AT-hook 1-like 4							125.0	131.0	129.0					2																	74682983		2203	4300	6503	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682983C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.290C>T	2.37:g.74682983C>T	ENSP00000233331:p.Ser97Leu					INO80B_uc002slf.1_Missense_Mutation_p.S84L|INO80B_uc010yrr.1_Missense_Mutation_p.S84L|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.S115L|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	p.S97L	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			3	335	+			97						Missense_Mutation	SNP	ENST00000233331.7	37	c.290C>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	33	5.229996	0.95173	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50277	0.76;0.78;0.78;0.75	5.47	5.47	0.80525	.	0.064045	0.64402	D	0.000004	T	0.50137	0.1598	L	0.59436	1.845	0.58432	D	0.99999	P;P;P;P	0.48764	0.915;0.808;0.808;0.549	P;B;B;B	0.45071	0.468;0.283;0.283;0.133	T	0.46952	-0.9154	10	0.32370	T	0.25	-8.1563	16.8286	0.85938	0.0:1.0:0.0:0.0	.	115;97;97;97	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	L	97;97;97;102	ENSP00000233331:S97L;ENSP00000389887:S97L;ENSP00000387267:S97L;ENSP00000386937:S102L	ENSP00000233331:S97L	S	+	2	0	INO80B	74536491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.576000	0.74023	2.565000	0.86533	0.655000	0.94253	TCA		PASS	0.547	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		35	166	35	166	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746506	77746506	+	Missense_Mutation	SNP	G	G	C	rs373398772		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:77746506G>C	ENST00000409093.1	-	3	825	c.489C>G	c.(487-489)caC>caG	p.H163Q	LRRTM4_ENST00000409911.1_Missense_Mutation_p.H164Q|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H164Q|LRRTM4_ENST00000409088.3_Missense_Mutation_p.H163Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.H163Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	163					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.H163Q(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAGATCTCAAGTGCAAAATGA	0.408																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(487-489)CAC>CAG		leucine rich repeat transmembrane neuronal 4							66.0	61.0	63.0					2																	77746506		1839	4082	5921	SO:0001583	missense	80059					integral to membrane		g.chr2:77746506G>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.489C>G	2.37:g.77746506G>C	ENSP00000386357:p.His163Gln					LRRTM4_uc002snq.2_Missense_Mutation_p.H163Q|LRRTM4_uc002sns.2_Missense_Mutation_p.H163Q|LRRTM4_uc002snt.2_Missense_Mutation_p.H164Q	p.H163Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	904	-			163			LRR 5.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.489C>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672575	0.47781	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.39245	1.2	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.61758	-0.6997	10	0.46703	T	0.11	.	11.0147	0.47682	0.1525:0.0:0.8475:0.0	.	164;163;163	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Q	164;163;163;163;164	ENSP00000387228:H164Q;ENSP00000387297:H163Q;ENSP00000386357:H163Q;ENSP00000386236:H163Q;ENSP00000386286:H164Q	ENSP00000386236:H163Q	H	-	3	2	LRRTM4	77600014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.490000	0.53245	1.438000	0.47492	0.563000	0.77884	CAC		PASS	0.408	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		36	86	36	86	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79314036	79314036	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:79314036G>T	ENST00000305089.3	-	3	165	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	29					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.L29M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGATTAGGCAGCTCTGTCTGG	0.493																																						uc002sny.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(85-87)CTG>ATG		regenerating islet-derived 1 beta precursor							117.0	121.0	119.0					2																	79314036		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314036G>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.85C>A	2.37:g.79314036G>T	ENSP00000303206:p.Leu29Met					REG1B_uc010ffv.1_Missense_Mutation_p.L29M|REG1B_uc010ffw.2_Missense_Mutation_p.L29M	p.L29M	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	197	-			29						Missense_Mutation	SNP	ENST00000305089.3	37	c.85C>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762905	0.31228	.	.	ENSG00000172023	ENST00000305089	T	0.09255	3.0	3.57	-0.966	0.10320	.	4.050110	0.00944	N	0.002871	T	0.13286	0.0322	M	0.74647	2.275	0.09310	N	1	B;B	0.30870	0.298;0.298	B;B	0.26864	0.074;0.052	T	0.21280	-1.0250	10	0.39692	T	0.17	.	2.4462	0.04507	0.112:0.3533:0.3542:0.1805	.	29;29	Q6ICS1;P48304	.;REG1B_HUMAN	M	29	ENSP00000303206:L29M	ENSP00000303206:L29M	L	-	1	2	REG1B	79167544	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.672000	0.05244	-0.352000	0.08237	0.561000	0.74099	CTG		PASS	0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		69	140	69	140	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79350321	79350321	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:79350321G>C	ENST00000233735.1	+	6	584	c.481G>C	c.(481-483)Gtc>Ctc	p.V161L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.V161L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GTTCTCCTTTGTCTGCAAGTT	0.418																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)GTC>CTC		regenerating islet-derived 1 alpha precursor							85.0	85.0	85.0					2																	79350321		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350321G>C		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.481G>C	2.37:g.79350321G>C	ENSP00000233735:p.Val161Leu					REG1A_uc010ysd.1_Missense_Mutation_p.V161L	p.V161L	NM_002909	NP_002900	P05451	REG1A_HUMAN			6	584	+			161			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.481G>C	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.841953	0.32513	.	.	ENSG00000115386	ENST00000233735	T	0.10288	2.89	3.11	-2.28	0.06826	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.226336	0.22416	N	0.060353	T	0.19167	0.0460	L	0.58510	1.815	0.25792	N	0.984608	D	0.63046	0.992	D	0.74674	0.984	T	0.05784	-1.0864	10	0.72032	D	0.01	.	3.7276	0.08481	0.4853:0.201:0.3137:0.0	.	161	P05451	REG1A_HUMAN	L	161	ENSP00000233735:V161L	ENSP00000233735:V161L	V	+	1	0	REG1A	79203829	1.000000	0.71417	0.920000	0.36463	0.317000	0.28152	1.659000	0.37387	-0.262000	0.09392	-0.484000	0.04775	GTC		PASS	0.418	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		17	77	17	77	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385884	79385884	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:79385884G>C	ENST00000409839.3	-	3	124	c.88C>G	c.(88-90)Cag>Gag	p.Q30E	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.Q30E|REG3A_ENST00000393878.1_Missense_Mutation_p.Q30E	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	30					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.Q30E(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGTTCCCTCTGGGGTTCTTCA	0.552																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(88-90)CAG>GAG		pancreatitis-associated protein precursor							53.0	52.0	52.0					2																	79385884		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385884G>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.88C>G	2.37:g.79385884G>C	ENSP00000386630:p.Gln30Glu					REG3A_uc002soe.1_Missense_Mutation_p.Q30E|REG3A_uc002sof.1_Missense_Mutation_p.Q30E	p.Q30E	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	343	-			30						Missense_Mutation	SNP	ENST00000409839.3	37	c.88C>G	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461599	0.12342	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.12672	2.66;2.66;2.66	3.83	-2.02	0.07388	.	1.345040	0.05115	N	0.489544	T	0.09512	0.0234	L	0.37561	1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36866	-0.9730	10	0.18710	T	0.47	.	3.9062	0.09183	0.0981:0.4405:0.309:0.1525	.	30	Q06141	REG3A_HUMAN	E	30	ENSP00000386630:Q30E;ENSP00000377456:Q30E;ENSP00000304311:Q30E	ENSP00000304311:Q30E	Q	-	1	0	REG3A	79239392	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.125000	0.10579	-0.386000	0.07821	0.597000	0.82753	CAG		PASS	0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		11	25	11	25	---	---	---	---
TRABD2A	129293	broad.mit.edu	37	2	85051322	85051322	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:85051322C>T	ENST00000409520.2	-	6	1131	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	TRABD2A_ENST00000335459.5_Silent_p.K314K|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	363					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.K314K(1)|p.K363K(1)									TCTTTTTACTCTTCCCTCTGT	0.547																																						uc010ysl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1087-1089)AAG>AAA		hypothetical protein LOC129293 precursor							65.0	70.0	68.0					2																	85051322		2083	4235	6318	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85051322C>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1089G>A	2.37:g.85051322C>T						C2orf89_uc002sou.3_Silent_p.K314K	p.K363K	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			6	1178	-			363			Extracellular (Potential).		B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.1089G>A																																																																																					PASS	0.547	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		8	33	8	33	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88484972	88484972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:88484972C>A	ENST00000324166.5	+	7	2894	c.1203C>A	c.(1201-1203)taC>taA	p.Y401*	THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Nonsense_Mutation_p.Y401*|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	401					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.Y401*(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ACTACCATTACCAGCAGATAG	0.592																																						uc002ssz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1201-1203)TAC>TAA		threonine synthase-like 2							26.0	29.0	28.0					2																	88484972		2203	4300	6503	SO:0001587	stop_gained	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484972C>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1203C>A	2.37:g.88484972C>A	ENSP00000327323:p.Tyr401*					THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Nonsense_Mutation_p.Y401*|THNSL2_uc010fhe.2_Intron	p.Y401*	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			8	1356	+			401					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Nonsense_Mutation	SNP	ENST00000324166.5	37	c.1203C>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	51	17.602416	0.99889	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	.	.	.	5.8	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2052	0.54348	0.0:0.8596:0.0:0.1404	.	.	.	.	X	401	.	ENSP00000327323:Y401X	Y	+	3	2	THNSL2	88266087	0.997000	0.39634	1.000000	0.80357	0.962000	0.63368	1.085000	0.30840	1.456000	0.47831	0.650000	0.86243	TAC		PASS	0.592	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		8	26	8	26	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874576	88874576	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:88874576C>T	ENST00000303236.3	-	13	2726	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E658K|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	809	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.E809K(1)		ovary(3)	3						CCAGAATCTTCAAATACTATT	0.413																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2425-2427)GAA>AAA		eukaryotic translation initiation factor 2-alpha							136.0	140.0	139.0					2																	88874576		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874576C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2425G>A	2.37:g.88874576C>T	ENSP00000307235:p.Glu809Lys						p.E809K	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	2627	-			809			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2425G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589847	0.86851	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.78246	-1.05;-1.04;-1.16	5.99	5.99	0.97316	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	L	0.61036	1.89	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.86766	0.1970	10	0.62326	D	0.03	-28.7954	20.4756	0.99175	0.0:1.0:0.0:0.0	.	809	Q9NZJ5	E2AK3_HUMAN	K	658;809;658;688	ENSP00000408325:E658K;ENSP00000307235:E809K;ENSP00000412076:E688K	ENSP00000307235:E809K	E	-	1	0	EIF2AK3	88655691	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.472000	0.73567	2.847000	0.97988	0.655000	0.94253	GAA		PASS	0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		49	269	49	269	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88890072	88890072	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:88890072G>C	ENST00000303236.3	-	6	1355	c.1054C>G	c.(1054-1056)Ccc>Gcc	p.P352A	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P201A	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	352					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.P352A(1)		ovary(3)	3						AGACTGATGGGAATGACTTTC	0.348																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1054-1056)CCC>GCC		eukaryotic translation initiation factor 2-alpha							76.0	78.0	77.0					2																	88890072		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890072G>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1054C>G	2.37:g.88890072G>C	ENSP00000307235:p.Pro352Ala						p.P352A	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			6	1256	-			352			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1054C>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031141	0.93575	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.30448	1.53;1.53;1.53	5.98	5.98	0.97165	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53251	-0.8465	10	0.41790	T	0.15	-19.0299	20.4553	0.99141	0.0:0.0:1.0:0.0	.	352	Q9NZJ5	E2AK3_HUMAN	A	201;352;201;231	ENSP00000408325:P201A;ENSP00000307235:P352A;ENSP00000412076:P231A	ENSP00000307235:P352A	P	-	1	0	EIF2AK3	88671187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.184000	0.94893	2.839000	0.97877	0.650000	0.86243	CCC		PASS	0.348	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		25	102	25	102	---	---	---	---
IGKV1D-13	28902	broad.mit.edu	37	2	90193250	90193250	+	RNA	SNP	G	G	T	rs529707667		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:90193250G>T	ENST00000390275.2	+	0	357									immunoglobulin kappa variable 1D-13																		CCTGGTATCAGCAGAAACCAG	0.532																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							213.0	166.0	181.0					2																	90193250		1930	4133	6063			0							g.chr2:90193250G>T	X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193250G>T														22		+									RNA	SNP	ENST00000390275.2	37	c.2840G>T																																																																																					PASS	0.532	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833		49	215	49	215	---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97019078	97019078	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:97019078C>G	ENST00000240423.4	+	8	988	c.945C>G	c.(943-945)atC>atG	p.I315M	NCAPH_ENST00000455200.1_Missense_Mutation_p.I304M|NCAPH_ENST00000427946.1_Missense_Mutation_p.I179M	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	315					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.I315M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ATCGCCAGATCTGCCCTTCCC	0.502																																						uc002svz.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(943-945)ATC>ATG		non-SMC condensin I complex, subunit H							123.0	104.0	110.0					2																	97019078		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97019078C>G	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.945C>G	2.37:g.97019078C>G	ENSP00000240423:p.Ile315Met					NCAPH_uc010fhu.1_Missense_Mutation_p.I291M|NCAPH_uc010fhv.1_Missense_Mutation_p.I304M|NCAPH_uc010yum.1_Missense_Mutation_p.I291M|NCAPH_uc010fhw.1_Missense_Mutation_p.I304M|NCAPH_uc010yun.1_Missense_Mutation_p.I179M|NCAPH_uc002swa.1_Translation_Start_Site	p.I315M	NM_015341	NP_056156	Q15003	CND2_HUMAN			8	1029	+		Ovarian(717;0.0221)	315					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.945C>G	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883695	0.72410	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.76	2.61	0.31194	.	0.098313	0.64402	D	0.000002	T	0.67543	0.2904	M	0.80746	2.51	0.39750	D	0.97187	D;D;D;D	0.61697	0.99;0.99;0.978;0.99	P;P;P;P	0.61658	0.892;0.892;0.794;0.892	T	0.68066	-0.5507	10	0.72032	D	0.01	-14.433	3.0164	0.06061	0.1913:0.4753:0.0:0.3333	.	291;304;304;315	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	M	315;179;304;196;304	ENSP00000240423:I315M;ENSP00000400774:I179M;ENSP00000405237:I304M;ENSP00000401227:I196M;ENSP00000407308:I304M	ENSP00000240423:I315M	I	+	3	3	NCAPH	96382805	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.410000	0.21098	0.790000	0.33803	0.655000	0.94253	ATC		PASS	0.502	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		17	79	17	79	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98744705	98744705	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:98744705G>A	ENST00000477737.1	+	6	910	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	VWA3B_ENST00000451075.2_Missense_Mutation_p.E86K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E236K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	236								p.E236K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGCAGATTGAATCCATTTA	0.473																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(706-708)GAA>AAA		von Willebrand factor A domain containing 3B							235.0	232.0	233.0					2																	98744705		1933	4139	6072	SO:0001583	missense	200403							g.chr2:98744705G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.706G>A	2.37:g.98744705G>A	ENSP00000417955:p.Glu236Lys					VWA3B_uc010yvh.1_Missense_Mutation_p.E86K|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.E236K|VWA3B_uc002syn.1_RNA	p.E236K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			6	970	+			236					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.706G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882163	0.91740	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.19806	3.22;3.22;2.12	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000010	T	0.45677	0.1354	M	0.62016	1.91	0.42190	D	0.991723	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.942;0.99;0.973	T	0.39502	-0.9611	10	0.62326	D	0.03	.	17.8198	0.88647	0.0:0.0:1.0:0.0	.	86;236;236	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	236;236;86	ENSP00000401959:E236K;ENSP00000417955:E236K;ENSP00000389463:E86K	ENSP00000411168:E236K	E	+	1	0	VWA3B	98111137	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	5.327000	0.65881	2.495000	0.84180	0.655000	0.94253	GAA		PASS	0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		90	171	90	171	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98744741	98744741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:98744741G>T	ENST00000477737.1	+	6	946	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E98*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E248*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	248								p.E248*(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATGTTCCTGAAGAATCCAA	0.498																																						uc002syo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(742-744)GAA>TAA		von Willebrand factor A domain containing 3B							191.0	192.0	192.0					2																	98744741		1922	4130	6052	SO:0001587	stop_gained	200403							g.chr2:98744741G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.742G>T	2.37:g.98744741G>T	ENSP00000417955:p.Glu248*					VWA3B_uc010yvh.1_Nonsense_Mutation_p.E98*|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Nonsense_Mutation_p.E248*|VWA3B_uc002syn.1_RNA	p.E248*	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			6	1006	+			248					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	37	c.742G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	40	8.265283	0.98732	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.75	3.81	0.43845	.	0.415891	0.22680	N	0.056946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.7313	0.69383	0.0:0.2847:0.7153:0.0	.	.	.	.	X	248;248;98	.	ENSP00000411168:E248X	E	+	1	0	VWA3B	98111173	0.158000	0.22850	0.329000	0.25429	0.995000	0.86356	1.488000	0.35551	1.394000	0.46624	0.655000	0.94253	GAA		PASS	0.498	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		39	181	39	181	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98797605	98797605	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:98797605C>T	ENST00000477737.1	+	9	1445	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	VWA3B_ENST00000451075.2_Missense_Mutation_p.S264F|VWA3B_ENST00000435344.1_Missense_Mutation_p.S414F	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	414								p.S414F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCGACTGCTCTTTCCGCCAC	0.537																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(1240-1242)TCT>TTT		von Willebrand factor A domain containing 3B							122.0	127.0	125.0					2																	98797605		2053	4197	6250	SO:0001583	missense	200403							g.chr2:98797605C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1241C>T	2.37:g.98797605C>T	ENSP00000417955:p.Ser414Phe					VWA3B_uc010yvh.1_Missense_Mutation_p.S264F|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.S414F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S71F	p.S414F	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			9	1505	+			414					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1241C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126312	0.56721	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.26957	1.7;3.09;2.32	5.31	5.31	0.75309	.	0.349878	0.23977	N	0.042716	T	0.38241	0.1033	L	0.43152	1.355	0.30776	N	0.742516	P;D;P	0.55800	0.93;0.973;0.94	P;P;P	0.54499	0.564;0.713;0.754	T	0.27434	-1.0074	10	0.62326	D	0.03	.	18.1044	0.89516	0.0:1.0:0.0:0.0	.	264;414;414	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	F	414;414;264	ENSP00000401959:S414F;ENSP00000417955:S414F;ENSP00000389463:S264F	ENSP00000388158:S414F	S	+	2	0	VWA3B	98164037	0.992000	0.36948	1.000000	0.80357	0.185000	0.23345	2.761000	0.47589	2.645000	0.89757	0.585000	0.79938	TCT		PASS	0.537	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		29	118	29	118	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99443447	99443447	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:99443447C>T	ENST00000397899.2	-	6	1057	c.726G>A	c.(724-726)cgG>cgA	p.R242R	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	242								p.R242R(1)									CCGATGAGAGCCGCCTCATCT	0.602																																						uc002szf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)CGG>CGA		hypothetical protein LOC343990							80.0	79.0	79.0					2																	99443447		1982	4156	6138	SO:0001819	synonymous_variant	343990							g.chr2:99443447C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.726G>A	2.37:g.99443447C>T							p.R242R	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			6	1020	-			242						Silent	SNP	ENST00000397899.2	37	c.726G>A	CCDS42720.1																																																																																				PASS	0.602	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		92	157	92	157	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102456381	102456381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:102456381C>T	ENST00000347699.4	+	10	874	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.Q272*|MAP4K4_ENST00000413150.2_Nonsense_Mutation_p.Q292*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.Q292*|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.Q292*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.Q292*	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	292					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q292*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATAAGGGATCAGCCAAATGA	0.408																																						uc002tbg.2																			1	Substitution - Nonsense(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(874-876)CAG>TAG		mitogen-activated protein kinase kinase kinase							78.0	73.0	75.0					2																	102456381		1858	4089	5947	SO:0001587	stop_gained	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102456381C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.874C>T	2.37:g.102456381C>T	ENSP00000314363:p.Gln292*					MAP4K4_uc002tbc.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Nonsense_Mutation_p.Q272*|MAP4K4_uc010fiw.1_Nonsense_Mutation_p.Q134*|MAP4K4_uc002tbj.1_Nonsense_Mutation_p.Q188*	p.Q292*	NM_145687	NP_663720	O95819	M4K4_HUMAN			10	929	+			292					O75172|Q9NST7	Nonsense_Mutation	SNP	ENST00000347699.4	37	c.874C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.916969|6.916969	0.97932|0.97932	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	.|.	.|.	.|.	5.8|5.8	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66327	.|0.2778	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69323	.|-0.5175	.|3	0.87932|.	D|.	0|.	.|.	15.2754|15.2754	0.73737|0.73737	0.0:0.9319:0.0:0.0681|0.0:0.9319:0.0:0.0681	.|.	.|.	.|.	.|.	X|L	292;292;292;292;292;254;272|31	.|.	ENSP00000313644:Q292X|.	Q|S	+|+	1|2	0|0	MAP4K4|MAP4K4	101822813|101822813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.776000|7.776000	0.85560|0.85560	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		19	99	19	99	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109100635	109100635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:109100635G>T	ENST00000309863.6	+	13	4195	c.3481G>T	c.(3481-3483)Gaa>Taa	p.E1161*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1161					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E1161*(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATGAATATGGAAATAGCTGA	0.259																																						uc002tec.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3481-3483)GAA>TAA		GRIP and coiled-coil domain-containing 2							54.0	57.0	56.0					2																	109100635		2200	4290	6490	SO:0001587	stop_gained	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109100635G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3481G>T	2.37:g.109100635G>T	ENSP00000307939:p.Glu1161*					GCC2_uc002ted.2_Nonsense_Mutation_p.E1060*	p.E1161*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			13	3635	+			1161			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	c.3481G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	42	9.640343	0.99227	.	.	ENSG00000135968	ENST00000309863	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	.	.	.	X	1161	.	ENSP00000307939:E1161X	E	+	1	0	GCC2	108467067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.585000	0.90802	2.721000	0.93114	0.591000	0.81541	GAA		PASS	0.259	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		20	109	20	109	---	---	---	---
LIMS1	3987	broad.mit.edu	37	2	109276161	109276161	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:109276161G>C	ENST00000393310.1	+	2	264	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	LIMS1_ENST00000332345.6_Missense_Mutation_p.E33Q|LIMS1_ENST00000338045.3_Missense_Mutation_p.E33Q|LIMS1_ENST00000409441.1_Missense_Mutation_p.E70Q|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000542845.1_Missense_Mutation_p.E95Q|LIMS1_ENST00000393314.2_Missense_Mutation_p.E95Q|LIMS1_ENST00000544547.1_Missense_Mutation_p.E45Q|LIMS1_ENST00000410093.1_Missense_Mutation_p.E37Q	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.E95Q(1)|p.E33Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GCTGTACCATGAGCAGTGTTT	0.587																																						uc002teg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(97-99)GAG>CAG		LIM and senescent cell antigen-like domains 1							126.0	95.0	106.0					2																	109276161		2203	4299	6502	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109276161G>C		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.97G>C	2.37:g.109276161G>C	ENSP00000376987:p.Glu33Gln					LIMS1_uc002tef.2_Missense_Mutation_p.E45Q|LIMS1_uc002teh.2_Missense_Mutation_p.E33Q|LIMS1_uc002tei.2_Missense_Mutation_p.E33Q|LIMS1_uc002tej.2_Missense_Mutation_p.E70Q|LIMS1_uc002tek.3_Missense_Mutation_p.E95Q	p.E33Q	NM_004987	NP_004978	P48059	LIMS1_HUMAN			2	216	+			33			LIM zinc-binding 1.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.97G>C	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383086	0.42207	.	.	ENSG00000169756	ENST00000544547;ENST00000428064;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845;ENST00000393314	D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.49	3.6	0.41247	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000005	D	0.83138	0.5189	L	0.46157	1.445	0.53005	D	0.999966	P;B;B;B	0.42123	0.771;0.425;0.203;0.425	B;B;B;B	0.41135	0.348;0.159;0.098;0.159	T	0.79940	-0.1591	10	0.23302	T	0.38	.	14.6191	0.68572	0.0:0.1465:0.8535:0.0	.	95;70;33;45	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	Q	45;45;33;33;37;70;33;95;95	ENSP00000437912:E45Q;ENSP00000390862:E45Q;ENSP00000331775:E33Q;ENSP00000376987:E33Q;ENSP00000386926:E37Q;ENSP00000387264:E70Q;ENSP00000337598:E33Q;ENSP00000446121:E95Q;ENSP00000376990:E95Q	ENSP00000331775:E33Q	E	+	1	0	LIMS1	108642593	1.000000	0.71417	0.986000	0.45419	0.802000	0.45316	9.652000	0.98499	1.093000	0.41377	0.462000	0.41574	GAG		PASS	0.587	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		3	146	3	146	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530508	125530508	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:125530508T>A	ENST00000431078.1	+	17	3027	c.2663T>A	c.(2662-2664)cTg>cAg	p.L888Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	888	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L888Q(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)		GAGACCTCCCTGCAGGTGGAC	0.547																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2662-2664)CTG>CAG		contactin associated protein-like 5 precursor							153.0	146.0	148.0					2																	125530508		1943	4145	6088	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530508T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2663T>A	2.37:g.125530508T>A	ENSP00000399013:p.Leu888Gln					CNTNAP5_uc010flu.2_Missense_Mutation_p.L889Q	p.L888Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3027	+			888			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2663T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	t	25.4	4.631333	0.87660	.	.	ENSG00000155052	ENST00000431078	D	0.88586	-2.4	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.39210	N	0.001421	D	0.96809	0.8958	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98327	1.0531	10	0.87932	D	0	.	15.0463	0.71830	0.0:0.0:0.0:1.0	.	888	Q8WYK1	CNTP5_HUMAN	Q	888	ENSP00000399013:L888Q	ENSP00000399013:L888Q	L	+	2	0	CNTNAP5	125246978	1.000000	0.71417	0.784000	0.31847	0.915000	0.54546	7.904000	0.87408	2.152000	0.67230	0.524000	0.50904	CTG		PASS	0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			37	136	37	136	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131486964	131486964	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:131486964G>A	ENST00000309926.4	+	1	322	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L80L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACCAACGGCTGCGACAGGAGC	0.617																																						uc002trv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(238-240)CTG>CTA		G protein-coupled receptor 148							64.0	67.0	66.0					2																	131486964		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486964G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.240G>A	2.37:g.131486964G>A							p.L80L	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	242	+	Colorectal(110;0.1)		80			Cytoplasmic (Potential).		Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.240G>A	CCDS2163.1																																																																																				PASS	0.617	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		35	54	35	54	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521481	131521481	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:131521481G>T	ENST00000423981.1	+	2	1946	c.1836G>T	c.(1834-1836)ttG>ttT	p.L612F	AMER3_ENST00000321420.4_Missense_Mutation_p.L612F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	612					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.L612F(1)									CTGAAGGCTTGTTCTCCTCTA	0.577																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1834-1836)TTG>TTT		hypothetical protein LOC205147							67.0	71.0	69.0					2																	131521481		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131521481G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1836G>T	2.37:g.131521481G>T	ENSP00000392700:p.Leu612Phe					FAM123C_uc010fmv.2_Missense_Mutation_p.L612F|FAM123C_uc010fms.1_Missense_Mutation_p.L612F|FAM123C_uc010fmt.1_Missense_Mutation_p.L612F|FAM123C_uc010fmu.1_Missense_Mutation_p.L612F	p.L612F	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2026	+	Colorectal(110;0.1)		612					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1836G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608856	0.28623	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.44881	0.91;0.91	4.57	-7.8	0.01214	.	3.332360	0.01347	N	0.011766	T	0.23210	0.0561	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15925	-1.0420	10	0.10902	T	0.67	.	7.579	0.27952	0.5267:0.3256:0.1477:0.0	.	612	Q8N944	F123C_HUMAN	F	612	ENSP00000314914:L612F;ENSP00000392700:L612F	ENSP00000314914:L612F	L	+	3	2	FAM123C	131237951	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.410000	0.01040	-1.348000	0.02205	-0.221000	0.12465	TTG		PASS	0.577	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		27	105	27	105	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021447	132021447	+	Nonsense_Mutation	SNP	G	G	T	rs377464122		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:132021447G>T	ENST00000356920.5	+	15	2513	c.2419G>T	c.(2419-2421)Gag>Tag	p.E807*	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	807	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E807*(1)									CCTGCTGACCGAGGCCCCCCT	0.602																																						uc002tsn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2419-2421)GAG>TAG		protein expressed in prostate, ovary, testis,							70.0	74.0	72.0					2																	132021447		2202	4295	6497	SO:0001587	stop_gained	445582						ATP binding	g.chr2:132021447G>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2419G>T	2.37:g.132021447G>T	ENSP00000439189:p.Glu807*					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Nonsense_Mutation_p.E407*|POTEE_uc002tsl.2_Nonsense_Mutation_p.E389*|POTEE_uc010fmy.1_Nonsense_Mutation_p.E271*	p.E807*	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2471	+			807			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Nonsense_Mutation	SNP	ENST00000356920.5	37	c.2419G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	32	5.168967	0.94768	.	.	ENSG00000188219	ENST00000356920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	.	.	.	X	807	.	ENSP00000439189:E807X	E	+	1	0	AC131180.1	131737917	1.000000	0.71417	0.260000	0.24451	0.265000	0.26407	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAG		PASS	0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		91	89	91	89	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132290239	132290239	+	Missense_Mutation	SNP	C	C	T	rs369824578		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:132290239C>T	ENST00000295171.6	+	5	899	c.761C>T	c.(760-762)gCg>gTg	p.A254V	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A188V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	254								p.A254V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATGGGGGCGGGGGCACAC	0.602																																						uc002tta.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(760-762)GCG>GTG		coiled-coil domain containing 74A		C	VAL/ALA	2,4404		0,2,2201	102.0	107.0	105.0		761	-3.3	0.0	2		105	0,8600		0,0,4300	no	missense	CCDC74A	NM_138770.1	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	254/379	132290239	2,13004	2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290239C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.761C>T	2.37:g.132290239C>T	ENSP00000295171:p.Ala254Val					CCDC74A_uc002ttb.2_Missense_Mutation_p.A188V	p.A254V	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			5	813	+			254					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.761C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.199475	0.00299	4.54E-4	0.0	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.22743	1.98;1.94	2.34	-3.31	0.04988	.	1.475580	0.05883	U	0.626843	T	0.09158	0.0226	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.38134	-0.9675	10	0.02654	T	1	.	8.0668	0.30665	0.0:0.527:0.0:0.473	.	188;254	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	254;188	ENSP00000295171:A254V;ENSP00000387009:A188V	ENSP00000295171:A254V	A	+	2	0	CCDC74A	132006709	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.736000	0.01845	-1.223000	0.02584	-2.532000	0.00182	GCG		PASS	0.602	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		39	152	39	152	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135744573	135744573	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:135744573T>C	ENST00000375845.3	-	7	1899	c.1869A>G	c.(1867-1869)acA>acG	p.T623T	MAP3K19_ENST00000392915.1_Silent_p.T640T|MAP3K19_ENST00000358371.4_Silent_p.T510T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	623							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T623T(1)|p.S613fs*21(1)									ATGACTTCTGTGTTCCTGGAT	0.373																																						uc002tue.1																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)		lung(1)|breast(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1867-1869)ACA>ACG		Yeast Sps1/Ste20-related kinase 4 isoform 1							152.0	159.0	157.0					2																	135744573		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744573T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1869A>G	2.37:g.135744573T>C						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.T510T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.T351T|YSK4_uc002tui.3_Silent_p.T640T	p.T623T	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1900	-			623					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1869A>G	CCDS2176.2																																																																																				PASS	0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		124	307	124	307	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135744883	135744883	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:135744883A>G	ENST00000375845.3	-	7	1589	c.1559T>C	c.(1558-1560)aTa>aCa	p.I520T	MAP3K19_ENST00000392915.1_Missense_Mutation_p.I537T|MAP3K19_ENST00000358371.4_Missense_Mutation_p.I407T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	520							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I520T(1)									GTGTACAGGTATGTTGACACT	0.423																																						uc002tue.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1558-1560)ATA>ACA		Yeast Sps1/Ste20-related kinase 4 isoform 1							196.0	183.0	188.0					2																	135744883		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744883A>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1559T>C	2.37:g.135744883A>G	ENSP00000365005:p.Ile520Thr					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.I407T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.I248T|YSK4_uc002tui.3_Missense_Mutation_p.I537T	p.I520T	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1590	-			520					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1559T>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	4.110	0.018641	0.07959	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71222	-0.55;-0.54;1.81	5.07	1.25	0.21368	.	0.494417	0.18628	N	0.135674	T	0.63558	0.2521	L	0.43923	1.385	0.09310	N	0.999999	P;P;P	0.49090	0.763;0.919;0.651	B;P;B	0.46275	0.361;0.51;0.198	T	0.57323	-0.7831	10	0.87932	D	0	.	8.3292	0.32175	0.5503:0.3356:0.0:0.114	.	407;537;520	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	520;407;537	ENSP00000365005:I520T;ENSP00000351140:I407T;ENSP00000376647:I537T	ENSP00000351140:I407T	I	-	2	0	YSK4	135461353	0.000000	0.05858	0.002000	0.10522	0.271000	0.26615	0.914000	0.28624	0.913000	0.36797	0.533000	0.62120	ATA		PASS	0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		41	124	41	124	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135965199	135965199	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:135965199C>A	ENST00000264159.6	-	19	2930	c.2814G>T	c.(2812-2814)ctG>ctT	p.L938L	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Silent_p.L936L|ZRANB3_ENST00000536680.1_Silent_p.L936L	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	938					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.L938L(1)|p.L401L(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCTGACATTTCAGAGAGCAAA	0.428																																						uc002tum.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(2812-2814)CTG>CTT		zinc finger, RAN-binding domain containing 3							202.0	188.0	192.0					2																	135965199		1915	4135	6050	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965199C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2814G>T	2.37:g.135965199C>A						ZRANB3_uc002tuk.2_Silent_p.L481L|ZRANB3_uc002tul.2_Silent_p.L936L	p.L938L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2931	-			938					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2814G>T	CCDS46419.1																																																																																				PASS	0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		72	246	72	246	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566025	136566025	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:136566025C>G	ENST00000264162.2	-	8	3902	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1298	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1298Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCAAAGCCTCATTGATGTAG	0.443																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3892-3894)GAG>CAG		lactase-phlorizin hydrolase preproprotein							231.0	215.0	220.0					2																	136566025		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566025C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3892G>C	2.37:g.136566025C>G	ENSP00000264162:p.Glu1298Gln						p.E1298Q	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3903	-			1298			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3892G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409075	0.62399	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51817	0.69	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60151	-0.7319	10	0.48119	T	0.1	-28.5474	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1298	P09848	LPH_HUMAN	Q	1298;730	ENSP00000264162:E1298Q	ENSP00000264162:E1298Q	E	-	1	0	LCT	136282495	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GAG		PASS	0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		80	305	80	305	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141130580	141130580	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:141130580G>T	ENST00000389484.3	-	69	11736	c.10765C>A	c.(10765-10767)Cca>Aca	p.P3589T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3589					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P3589T(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTACCTGGCTCACAGCTT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10765-10767)CCA>ACA		low density lipoprotein-related protein 1B							209.0	203.0	205.0					2																	141130580		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130580G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10765C>A	2.37:g.141130580G>T	ENSP00000374135:p.Pro3589Thr	TSP Lung(27;0.18)					p.P3589T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11737	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3589			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10765C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225449	0.39300	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.40225	1.04	5.67	5.67	0.87782	.	0.377447	0.25277	U	0.031826	T	0.20740	0.0499	N	0.03324	-0.35	0.42411	D	0.992609	P	0.42871	0.792	B	0.37650	0.255	T	0.14282	-1.0478	10	0.13853	T	0.58	.	16.0531	0.80775	0.0:0.134:0.866:0.0	.	3589	Q9NZR2	LRP1B_HUMAN	T	3589;3527	ENSP00000374135:P3589T	ENSP00000374135:P3589T	P	-	1	0	LRP1B	140847050	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.535000	0.60629	2.679000	0.91253	0.655000	0.94253	CCA		PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		81	151	81	151	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157151	145157151	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:145157151C>T	ENST00000558170.2	-	8	2787	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E535K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E535K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E511K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	535					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E535K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTTGGCTTCATTGACTTTT	0.403																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1603-1605)GAA>AAA		zinc finger homeobox 1b							89.0	91.0	90.0					2																	145157151		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157151C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1603G>A	2.37:g.145157151C>T	ENSP00000454157:p.Glu535Lys					ZEB2_uc002tvv.2_Missense_Mutation_p.E529K|ZEB2_uc010zbm.1_Missense_Mutation_p.E506K|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E564K	p.E535K	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2083	-			535					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1603G>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696485	0.68386	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	N	0.19112	0.55	0.80722	D	1	P;D;D;D	0.69078	0.542;0.993;0.993;0.997	P;D;D;D	0.79784	0.58;0.971;0.971;0.993	T	0.82259	-0.0546	10	0.22706	T	0.39	-12.6517	19.9312	0.97120	0.0:1.0:0.0:0.0	.	511;400;534;535	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	511;535;535;535	ENSP00000443792:E511K;ENSP00000302501:E535K;ENSP00000386854:E535K;ENSP00000395496:E535K	ENSP00000302501:E535K	E	-	1	0	ZEB2	144873621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.700000	0.92200	0.650000	0.86243	GAA		PASS	0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		33	119	33	119	---	---	---	---
RND3	390	broad.mit.edu	37	2	151343232	151343232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:151343232C>A	ENST00000375734.2	-	2	463	c.214G>T	c.(214-216)Gag>Tag	p.E72*	RND3_ENST00000409557.1_5'Flank|RND3_ENST00000263895.4_Nonsense_Mutation_p.E72*|RND3_ENST00000472416.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	72					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E72*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AGGCTCAACTCTATTCTTTGT	0.532																																						uc002txe.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)	2						c.(214-216)GAG>TAG		ras homolog gene family, member E precursor							169.0	169.0	169.0					2																	151343232		2203	4300	6503	SO:0001587	stop_gained	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151343232C>A		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.214G>T	2.37:g.151343232C>A	ENSP00000364886:p.Glu72*					RND3_uc002txf.2_Nonsense_Mutation_p.E72*|RND3_uc002txg.2_Nonsense_Mutation_p.E72*|RND3_uc010zbv.1_Nonsense_Mutation_p.E72*|RND3_uc010zbw.1_5'UTR	p.E72*	NM_005168	NP_005159	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	2	458	-			72					D3DP95|P52199	Nonsense_Mutation	SNP	ENST00000375734.2	37	c.214G>T	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	39	7.680778	0.98428	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.1516	18.1383	0.89630	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000263895:E72X	E	-	1	0	RND3	151051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.610000	0.82949	2.513000	0.84729	0.655000	0.94253	GAG		PASS	0.532	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		48	253	48	253	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153528972	153528972	+	Splice_Site	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:153528972C>G	ENST00000410080.1	-	13	1912		c.e13+1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AAACATCTTACTTGTATCTGG	0.348																																						uc002tyh.3																			3	Unknown(3)		lung(3)		0						c.e13+1		formin binding protein 3							135.0	135.0	135.0					2																	153528972		1873	4106	5979	SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153528972C>G	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1370+1G>C	2.37:g.153528972C>G						PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Splice_Site_p.K404_splice	p.K457_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN			13	1392	-								O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	SNP	ENST00000410080.1	37	c.1370_splice	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663847	0.88251	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPF40A	153237218	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.763000	0.85283	2.880000	0.98712	0.655000	0.94253	.		PASS	0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	Intron	34	80	34	80	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155265537	155265537	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:155265537C>T	ENST00000392825.3	+	11	1905	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.G446G	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	446	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G446G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACAACATGGGCCGCAAGGAAA	0.368																																						uc002tyr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1336-1338)GGC>GGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							123.0	121.0	122.0					2																	155265537		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155265537C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1338C>T	2.37:g.155265537C>T						GALNT13_uc002tyt.3_Silent_p.G446G|GALNT13_uc010foc.1_Silent_p.G265G|GALNT13_uc010fod.2_Silent_p.G199G	p.G446G	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			11	1905	+			446			Ricin B-type lectin.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.1338C>T	CCDS2199.1																																																																																				PASS	0.368	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		22	84	22	84	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158152278	158152278	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:158152278A>G	ENST00000259056.4	+	4	2330	c.1845A>G	c.(1843-1845)ccA>ccG	p.P615P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	615					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P615P(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGGCCTGTCCAGTAATCGAAG	0.363																																						uc002tzg.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(1843-1845)CCA>CCG		N-acetylgalactosaminyltransferase 5							173.0	164.0	167.0					2																	158152278		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158152278A>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1845A>G	2.37:g.158152278A>G						GALNT5_uc010zci.1_RNA	p.P615P	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			4	2100	+			615			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.1845A>G	CCDS2203.1																																																																																				PASS	0.363	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		85	131	85	131	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163076375	163076375	+	Silent	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:163076375A>C	ENST00000188790.4	-	7	681	c.474T>G	c.(472-474)gtT>gtG	p.V158V	FAP_ENST00000443424.1_Silent_p.V133V	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.V158V(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						ATTTACTCCCAACAGGCGACC	0.348																																						uc002ucd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(472-474)GTT>GTG		fibroblast activation protein, alpha subunit							52.0	53.0	53.0					2																	163076375		2202	4296	6498	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.chr2:163076375A>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.474T>G	2.37:g.163076375A>C						FAP_uc010zct.1_Silent_p.V133V|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.V125V	p.V158V	NM_004460	NP_004451	Q12884	SEPR_HUMAN			7	682	-			158			Extracellular (Potential).			Silent	SNP	ENST00000188790.4	37	c.474T>G	CCDS33311.1																																																																																				PASS	0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			19	98	19	98	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163228560	163228560	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:163228560C>T	ENST00000332142.5	-	16	3469	c.3370G>A	c.(3370-3372)Gaa>Aaa	p.E1124K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1124					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E1124K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAAAGGGATTCTTTGGATTTA	0.353																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3370-3372)GAA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						58.0	60.0	59.0					2																	163228560		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163228560C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3370G>A	2.37:g.163228560C>T	ENSP00000331727:p.Glu1124Lys						p.E1124K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			16	3582	-			1124			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3370G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698579	0.68386	.	.	ENSG00000184611	ENST00000332142	D	0.98701	-5.08	5.43	5.43	0.79202	.	0.351926	0.32970	N	0.005431	D	0.96156	0.8747	N	0.24115	0.695	0.80722	D	1	B	0.25105	0.118	B	0.23852	0.049	D	0.94147	0.7402	10	0.23891	T	0.37	.	19.2485	0.93913	0.0:1.0:0.0:0.0	.	1124	Q9NS40	KCNH7_HUMAN	K	1124	ENSP00000331727:E1124K	ENSP00000331727:E1124K	E	-	1	0	KCNH7	162936806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.763000	0.74955	2.558000	0.86282	0.563000	0.77884	GAA		PASS	0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		18	54	18	54	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467083	164467084	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:164467083_164467084CC>AA	ENST00000333129.3	-	3	1572_1573	c.1258_1259GG>TT	c.(1258-1260)GGg>TTg	p.G420L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	420					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.G420L(1)|p.G420V(1)|p.G420W(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTGTACTTCCCAAAGGATTCA	0.525																																						uc002uck.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1258-1260)GGG>GTG|c.(1258-1260)GGG>TGG		fidgetin																																				SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467083C>A|g.chr2:164467084C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1258_1259delinsAA	2.37:g.164467083_164467084delinsAA	ENSP00000333836:p.Gly420Leu						p.G420V|p.G420W	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1570|1569	-			420					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1259G>T|c.1258G>T	CCDS2221.2																																																																																				PASS	0.525	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		41	79|80	41	79	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166900541	166900541	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:166900541C>A	ENST00000303395.4	-	11	1680	c.1681G>T	c.(1681-1683)Ggc>Tgc	p.G561C	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G561C|SCN1A_ENST00000375405.3_Missense_Mutation_p.G561C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G561C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	561					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G561C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAGGGAGCCACGGATGCTC	0.393																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1681-1683)GGC>TGC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						50.0	51.0	51.0					2																	166900541		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900541C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1681G>T	2.37:g.166900541C>A	ENSP00000303540:p.Gly561Cys					SCN1A_uc002udo.3_Missense_Mutation_p.G430C|SCN1A_uc010fpk.2_Missense_Mutation_p.G430C	p.G561C	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1699	-			561					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1681G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280822	0.59758	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	5.59	4.69	0.59074	Domain of unknown function DUF3451 (1);	0.078892	0.53938	N	0.000041	D	0.97958	0.9328	M	0.90814	3.15	0.58432	D	0.999999	B;B;D	0.76494	0.18;0.439;0.999	B;B;D	0.70487	0.13;0.312;0.969	D	0.98766	1.0726	10	0.87932	D	0	.	15.6042	0.76649	0.1388:0.8612:0.0:0.0	.	561;561;561	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	561	ENSP00000407030:G561C;ENSP00000303540:G561C;ENSP00000364554:G561C;ENSP00000386312:G561C	ENSP00000303540:G561C	G	-	1	0	SCN1A	166608787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.443000	0.80521	1.308000	0.44962	0.561000	0.74099	GGC		PASS	0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		18	65	18	65	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103509	168103509	+	Silent	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:168103509A>T	ENST00000409195.1	+	9	5696	c.5607A>T	c.(5605-5607)ctA>ctT	p.L1869L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1647L|XIRP2_ENST00000295237.9_Silent_p.L1869L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1694					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L1869L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAACATGCTAGCCACACTCA	0.383																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5605-5607)CTA>CTT		xin actin-binding repeat containing 2 isoform 1							77.0	69.0	72.0					2																	168103509		1876	4114	5990	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103509A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5607A>T	2.37:g.168103509A>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1694L|XIRP2_uc010fpq.2_Silent_p.L1647L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L1869L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5625	+			1694					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5607A>T	CCDS42769.1																																																																																				PASS	0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	92	17	92	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169836446	169836446	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:169836446G>C	ENST00000263817.6	-	11	1251	c.1127C>G	c.(1126-1128)gCc>gGc	p.A376G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	376	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A376G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACAAGGAGAGGCATTGCCAAG	0.378																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1126-1128)GCC>GGC		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						102.0	100.0	101.0					2																	169836446		1877	4110	5987	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169836446G>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1127C>G	2.37:g.169836446G>C	ENSP00000263817:p.Ala376Gly						p.A376G	NM_003742	NP_003733	O95342	ABCBB_HUMAN			11	1253	-			376			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.1127C>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755255	0.89843	.	.	ENSG00000073734	ENST00000263817	T	0.81330	-1.48	6.02	5.14	0.70334	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	1.645520	0.03135	N	0.165813	D	0.91140	0.7210	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.76798	-0.2826	10	0.66056	D	0.02	.	15.202	0.73147	0.0675:0.0:0.9325:0.0	.	376	O95342	ABCBB_HUMAN	G	376	ENSP00000263817:A376G	ENSP00000263817:A376G	A	-	2	0	ABCB11	169544692	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.430000	0.73391	1.546000	0.49388	0.655000	0.94253	GCC		PASS	0.378	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		9	49	9	49	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170062105	170062105	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:170062105C>G	ENST00000263816.3	-	41	7884	c.7599G>C	c.(7597-7599)gaG>gaC	p.E2533D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2533					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E2533D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGTGGCTCTCTCGATTTTGG	0.468																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7597-7599)GAG>GAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						114.0	106.0	108.0					2																	170062105		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062105C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7599G>C	2.37:g.170062105C>G	ENSP00000263816:p.Glu2533Asp						p.E2533D	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7812	-			2533			LDL-receptor class B 27.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7599G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268567	0.59540	.	.	ENSG00000081479	ENST00000263816	D	0.94897	-3.55	5.9	4.09	0.47781	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.93550	3.43	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95535	0.8607	10	0.30078	T	0.28	.	7.4905	0.27458	0.0:0.6456:0.0:0.3544	.	2533	P98164	LRP2_HUMAN	D	2533	ENSP00000263816:E2533D	ENSP00000263816:E2533D	E	-	3	2	LRP2	169770351	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.518000	0.45537	0.814000	0.34374	0.561000	0.74099	GAG		PASS	0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		20	89	20	89	---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170806565	170806565	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:170806565A>G	ENST00000272793.5	+	23	3585	c.3535A>G	c.(3535-3537)Aaa>Gaa	p.K1179E	UBR3_ENST00000418381.1_Missense_Mutation_p.K1179E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1179					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1179E(1)|p.K32E(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AACATTGGACAAAGAAGAAAG	0.328																																						uc010zdi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3535-3537)AAA>GAA		E3 ubiquitin-protein ligase UBR3							59.0	63.0	61.0					2																	170806565		2203	4299	6502	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170806565A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3535A>G	2.37:g.170806565A>G	ENSP00000272793:p.Lys1179Glu					UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_Missense_Mutation_p.K32E	p.K1179E	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			23	3535	+			1179			Potential.		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3535A>G		.	.	.	.	.	.	.	.	.	.	A	26.6	4.753080	0.89753	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.57273	0.41;0.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	L	0.52573	1.65	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.73380	0.98;0.971	T	0.61008	-0.7149	10	0.23302	T	0.38	.	16.0044	0.80349	1.0:0.0:0.0:0.0	.	1179;1179	Q6ZT12;E7EVK3	UBR3_HUMAN;.	E	1179	ENSP00000272793:K1179E;ENSP00000396068:K1179E	ENSP00000272793:K1179E	K	+	1	0	UBR3	170514811	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.108000	0.94275	2.191000	0.70037	0.528000	0.53228	AAA		PASS	0.328	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		23	79	23	79	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173349611	173349611	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:173349611G>C	ENST00000264106.6	+	13	1971	c.1768G>C	c.(1768-1770)Gaa>Caa	p.E590Q	ITGA6_ENST00000264107.7_Missense_Mutation_p.E551Q|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.E590Q|ITGA6_ENST00000409532.1_Missense_Mutation_p.E432Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.E546Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.E551Q			P23229	ITA6_HUMAN	integrin, alpha 6	590					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E551Q(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATATACTCAAGAACTAACTCT	0.443																																						uc002uhp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1651-1653)GAA>CAA		integrin alpha chain, alpha 6 isoform a							78.0	78.0	78.0					2																	173349611		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173349611G>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1768G>C	2.37:g.173349611G>C	ENSP00000264106:p.Glu590Gln					ITGA6_uc010zdy.1_Missense_Mutation_p.E432Q|ITGA6_uc002uho.1_Missense_Mutation_p.E551Q|ITGA6_uc010fqm.1_Missense_Mutation_p.E197Q	p.E551Q	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		12	1854	+			590			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1651G>C		.	.	.	.	.	.	.	.	.	.	G	10.42	1.344532	0.24339	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.77	0.713	0.18173	.	0.471509	0.24513	N	0.037863	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.13407	0.002;0.009;0.005;0.004	T	0.16158	-1.0412	10	0.19590	T	0.45	.	4.9619	0.14070	0.269:0.3348:0.3962:0.0	.	546;590;551;551	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	Q	432;551;590;590;546;551;590;546	ENSP00000386614:E432Q;ENSP00000264107:E551Q;ENSP00000264106:E590Q;ENSP00000364369:E590Q;ENSP00000341078:E546Q;ENSP00000386896:E551Q;ENSP00000406694:E590Q;ENSP00000394169:E546Q	ENSP00000264106:E590Q	E	+	1	0	ITGA6	173057857	0.000000	0.05858	0.000000	0.03702	0.892000	0.51952	0.169000	0.16641	0.319000	0.23209	0.561000	0.74099	GAA		PASS	0.443	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				29	81	29	81	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098968	178098968	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:178098968T>G	ENST00000397062.3	-	2	631	c.77A>C	c.(76-78)cAa>cCa	p.Q26P	NFE2L2_ENST00000423513.1_Missense_Mutation_p.Q10P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.Q10P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Q10P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Q10P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	26					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.Q26P(1)|p.Q26L(1)		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)			ATCTATATCTTGCCTCCAAAG	0.348			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		2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(76-78)CAA>CCA		nuclear factor erythroid 2-like 2 isoform 1							59.0	53.0	55.0					2																	178098968		1842	4098	5940	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.chr2:178098968T>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.77A>C	2.37:g.178098968T>G	ENSP00000380252:p.Gln26Pro	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.Q10P|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q10P|NFE2L2_uc002uli.3_Missense_Mutation_p.Q10P|NFE2L2_uc010fra.2_Missense_Mutation_p.Q10P|NFE2L2_uc010frb.2_Missense_Mutation_p.Q10P	p.Q26P	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	632	-			26					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.77A>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816192	0.70912	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.85130	0.996;0.986;0.997;0.996	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	10;10;10;26	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	P	10;26;10;10;10;10;10	ENSP00000380253:Q10P;ENSP00000380252:Q26P;ENSP00000411575:Q10P;ENSP00000391590:Q10P;ENSP00000400073:Q10P;ENSP00000412191:Q10P;ENSP00000410015:Q10P	ENSP00000380252:Q26P	Q	-	2	0	NFE2L2	177807214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.698000	0.84413	2.210000	0.71456	0.460000	0.39030	CAA		PASS	0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		16	73	16	73	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179238668	179238668	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179238668G>A	ENST00000190611.4	+	15	1823	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	OSBPL6_ENST00000315022.2_Missense_Mutation_p.E487K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E452K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E416K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E447K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E508K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E447K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	483					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E483K(1)|p.E508K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGTAGCCAATGAGAGCCGCCT	0.483																																						uc002ulx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1447-1449)GAG>AAG		oxysterol-binding protein-like protein 6 isoform							109.0	96.0	101.0					2																	179238668		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179238668G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1447G>A	2.37:g.179238668G>A	ENSP00000190611:p.Glu483Lys					OSBPL6_uc002ulw.2_Missense_Mutation_p.E416K|OSBPL6_uc002uly.2_Missense_Mutation_p.E508K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E452K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E447K|OSBPL6_uc002uma.2_Missense_Mutation_p.E487K	p.E483K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1825	+			483					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1447G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737863	0.96865	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.13657	2.69;2.71;2.57;2.71;2.69;2.71;2.69	6.02	6.02	0.97574	.	0.116612	0.64402	D	0.000005	T	0.36936	0.0985	L	0.61218	1.895	0.80722	D	1	P;D;D;D;D;D	0.76494	0.877;0.999;0.996;0.999;0.997;0.998	P;D;D;D;D;D	0.83275	0.66;0.996;0.987;0.996;0.98;0.991	T	0.00463	-1.1724	10	0.24483	T	0.36	-20.0662	20.5407	0.99260	0.0:0.0:1.0:0.0	.	452;487;447;508;483;416	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	508;447;416;452;483;447;487	ENSP00000376293:E508K;ENSP00000352713:E447K;ENSP00000349591:E416K;ENSP00000387248:E452K;ENSP00000190611:E483K;ENSP00000386885:E447K;ENSP00000318723:E487K	ENSP00000190611:E483K	E	+	1	0	OSBPL6	178946914	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.775000	0.98995	2.865000	0.98341	0.655000	0.94253	GAG		PASS	0.483	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		27	98	27	98	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179400936	179400936	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179400936G>A	ENST00000591111.1	-	307	95839	c.95615C>T	c.(95614-95616)gCt>gTt	p.A31872V	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A24573V|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30945V|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A24640V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A24448V|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A33513V|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31872	Ig-like 141.				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.A24640V(1)|p.A30945V(1)|p.A24448V(1)|p.A30943V(1)|p.A24573V(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)			GACCAAGGTAGCATTGCTCTG	0.393																																						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.(92833-92835)GCT>GTT		titin isoform N2-A							109.0	95.0	99.0					2																	179400936		1909	4125	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400936G>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.95615C>T	2.37:g.179400936G>A	ENSP00000465570:p.Ala31872Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24640V|TTN_uc010zfi.1_Missense_Mutation_p.A24573V|TTN_uc010zfj.1_Missense_Mutation_p.A24448V	p.A30945V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	93058	-			31872					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.92834C>T		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822758	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74191	0.3684	N	0.13352	0.335	0.52501	D	0.999956	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;P;D	0.66979	0.907;0.907;0.907;0.948	T	0.78738	-0.2087	9	0.87932	D	0	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	24448;24573;24640;31872	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	30945;24448;24640;24573;24445	ENSP00000343764:A30945V;ENSP00000434586:A24448V;ENSP00000340554:A24640V;ENSP00000352154:A24573V	ENSP00000340554:A24640V	A	-	2	0	TTN	179109182	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.706000	0.92434	0.563000	0.77884	GCT		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	37	9	37	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402377	179402377	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179402377C>T	ENST00000591111.1	-	305	94858	c.94634G>A	c.(94633-94635)aGt>aAt	p.S31545N	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24246N|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S30618N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24313N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24121N|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S33186N|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31545	Ig-like 140.				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.S24246N(1)|p.S24313N(1)|p.S30616N(1)|p.S30618N(1)|p.S24121N(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)			GAGAAGCTTACTACTGGTTTC	0.463																																						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.(91852-91854)AGT>AAT		titin isoform N2-A							84.0	85.0	84.0					2																	179402377		1931	4143	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402377C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94634G>A	2.37:g.179402377C>T	ENSP00000465570:p.Ser31545Asn					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24313N|TTN_uc010zfi.1_Missense_Mutation_p.S24246N|TTN_uc010zfj.1_Missense_Mutation_p.S24121N	p.S30618N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	92077	-			31545					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.91853G>A		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075918	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66458	0.2791	L	0.39633	1.23	0.36951	D	0.892843	B;B;B;P	0.36086	0.397;0.397;0.397;0.536	B;B;B;B	0.40285	0.2;0.2;0.2;0.325	T	0.72023	-0.4415	9	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	24121;24246;24313;31545	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30618;24121;24313;24246;24118	ENSP00000343764:S30618N;ENSP00000434586:S24121N;ENSP00000340554:S24313N;ENSP00000352154:S24246N	ENSP00000340554:S24313N	S	-	2	0	TTN	179110623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.887000	0.63156	2.797000	0.96272	0.563000	0.77884	AGT		PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	69	16	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431323	179431323	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179431323G>A	ENST00000591111.1	-	276	74837	c.74613C>T	c.(74611-74613)atC>atT	p.I24871I	TTN_ENST00000359218.5_Silent_p.I17572I|TTN_ENST00000342992.6_Silent_p.I23944I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I17639I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.I17447I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.I26512I|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24871	Fibronectin type-III 81. {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.I23942I(1)|p.I17572I(1)|p.I17639I(1)|p.I17447I(1)|p.I23944I(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)			CGCCATCATAGATGGGTTTAC	0.443																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71830-71832)ATC>ATT		titin isoform N2-A							187.0	188.0	188.0					2																	179431323		1866	4101	5967	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431323G>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.74613C>T	2.37:g.179431323G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I17639I|TTN_uc010zfi.1_Silent_p.I17572I|TTN_uc010zfj.1_Silent_p.I17447I	p.I23944I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72056	-			24871					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.71832C>T																																																																																					PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	269	81	269	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179443940	179443940	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179443940G>T	ENST00000591111.1	-	270	63118	c.62894C>A	c.(62893-62895)aCa>aAa	p.T20965K	TTN_ENST00000359218.5_Missense_Mutation_p.T13666K|TTN_ENST00000342992.6_Missense_Mutation_p.T20038K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13733K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13541K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22606K|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20965	Ig-like 112.				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.T13541K(1)|p.T20038K(1)|p.T13733K(1)|p.T13666K(1)|p.T20036K(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)			TATAAGAGTTGTGTTAACCGC	0.438																																						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.(60112-60114)ACA>AAA		titin isoform N2-A							128.0	124.0	125.0					2																	179443940		1939	4127	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443940G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62894C>A	2.37:g.179443940G>T	ENSP00000465570:p.Thr20965Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13733K|TTN_uc010zfi.1_Missense_Mutation_p.T13666K|TTN_uc010zfj.1_Missense_Mutation_p.T13541K|uc002umv.1_Missense_Mutation_p.V56L	p.T20038K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60337	-			20965					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.60113C>A		.	.	.	.	.	.	.	.	.	.	G	15.86	2.957718	0.53400	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70422	0.3222	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.72707	-0.4212	9	0.87932	D	0	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	13541;13666;13733;20965	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	20038;13541;13733;13666;13539	ENSP00000343764:T20038K;ENSP00000434586:T13541K;ENSP00000340554:T13733K;ENSP00000352154:T13666K	ENSP00000340554:T13733K	T	-	2	0	TTN	179152186	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.807000	0.99171	2.833000	0.97629	0.655000	0.94253	ACA		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		77	110	77	110	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179444806	179444806	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179444806G>T	ENST00000591111.1	-	268	62509	c.62285C>A	c.(62284-62286)aCa>aAa	p.T20762K	TTN_ENST00000359218.5_Missense_Mutation_p.T13463K|TTN_ENST00000342992.6_Missense_Mutation_p.T19835K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13530K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13338K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22403K|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20762	Fibronectin type-III 50. {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.T13530K(1)|p.T13463K(1)|p.T19833K(1)|p.T19835K(1)|p.T13338K(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)			AGTTGTCACTGTAGACCAGGA	0.443																																						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.(59503-59505)ACA>AAA		titin isoform N2-A							193.0	185.0	187.0					2																	179444806		1907	4134	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444806G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62285C>A	2.37:g.179444806G>T	ENSP00000465570:p.Thr20762Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13530K|TTN_uc010zfi.1_Missense_Mutation_p.T13463K|TTN_uc010zfj.1_Missense_Mutation_p.T13338K|uc002umv.1_3'UTR	p.T19835K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		267	59728	-			20762					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.59504C>A		.	.	.	.	.	.	.	.	.	.	G	12.77	2.038113	0.35989	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53481	0.1799	L	0.52759	1.655	0.36080	D	0.842702	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.40636	0.335;0.335;0.335;0.255	T	0.65874	-0.6062	9	0.87932	D	0	.	19.7274	0.96170	0.0:0.0:1.0:0.0	.	13338;13463;13530;20762	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19835;13338;13530;13463;13336	ENSP00000343764:T19835K;ENSP00000434586:T13338K;ENSP00000340554:T13530K;ENSP00000352154:T13463K	ENSP00000340554:T13530K	T	-	2	0	TTN	179153052	1.000000	0.71417	0.442000	0.26870	0.980000	0.70556	4.894000	0.63206	2.663000	0.90544	0.563000	0.77884	ACA		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	169	60	169	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479049	179479049	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179479049C>G	ENST00000591111.1	-	212	44376	c.44152G>C	c.(44152-44154)Gac>Cac	p.D14718H	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7419H|TTN_ENST00000342992.6_Missense_Mutation_p.D13791H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7486H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7294H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16359H|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14718	Fibronectin type-III 6. {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.D13791H(2)|p.D7294H(1)|p.D7419H(1)|p.D7486H(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)			TCTGTGATGTCAAAGGCAGCT	0.393																																						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.(41371-41373)GAC>CAC		titin isoform N2-A							87.0	80.0	82.0					2																	179479049		1953	4146	6099	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479049C>G	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.44152G>C	2.37:g.179479049C>G	ENSP00000465570:p.Asp14718His					uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.D7486H|TTN_uc010zfi.1_Missense_Mutation_p.D7419H|TTN_uc010zfj.1_Missense_Mutation_p.D7294H	p.D13791H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		211	41595	-			14718					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.41371G>C		.	.	.	.	.	.	.	.	.	.	C	14.50	2.552495	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67401	0.2889	L	0.39245	1.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68663	-0.5349	9	0.87932	D	0	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	7294;7419;7486;14718	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13791;7294;7486;7419;7294	ENSP00000343764:D13791H;ENSP00000434586:D7294H;ENSP00000340554:D7486H;ENSP00000352154:D7419H	ENSP00000340554:D7486H	D	-	1	0	TTN	179187294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.768000	0.95171	0.655000	0.94253	GAC		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	72	20	72	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179532008	179532008	+	Intron	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179532008G>C	ENST00000591111.1	-	153	34489				TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11918A|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCAGGTGGCTCCACCTCT	0.338																																						uc010zfk.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(274-276)CCA>GCA		SubName: Full=Titin; Flags: Fragment;							20.0	19.0	19.0					2																	179532008		875	1990	2865	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179532008G>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.34264+2936C>G	2.37:g.179532008G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.P92A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	822	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.274C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.020|0.020	-1.434712|-1.434712	0.01108|0.01108	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	5.32|5.32	-4.15|-4.15	0.03881|0.03881	.|.	.|.	.|.	.|.	.|.	T|T	0.16300|0.16300	0.0392|0.0392	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.25882|0.25882	-1.0119|-1.0119	7|4	0.07990|.	T|.	0.79|.	.|.	0.4338|0.4338	0.00475|0.00475	0.3981:0.1578:0.1611:0.283|0.3981:0.1578:0.1611:0.283	.|.	220|.	Q71S18|.	.|.	A|R	220;72|9	.|.	ENSP00000376219:P72A|.	P|S	-|-	1|3	0|2	TTN|TTN	179240253|179240253	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	-0.450000|-0.450000	0.06803|0.06803	-0.660000|-0.660000	0.05352|0.05352	-1.119000|-1.119000	0.02030|0.02030	CCA|AGC		PASS	0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	18	3	18	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605624	179605624	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:179605624C>T	ENST00000591111.1	-	46	11609	c.11385G>A	c.(11383-11385)caG>caA	p.Q3795Q	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.Q3874Q|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.Q3941Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.Q3749Q|TTN_ENST00000589042.1_Silent_p.Q4112Q			Q8WZ42	TITIN_HUMAN	titin	33967					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.Q3874Q(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)			ATTGCAATTCCTGAGCTCCCA	0.413																																						uc010zfh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11821-11823)CAG>CAA		titin isoform novex-2							121.0	117.0	118.0					2																	179605624		1894	4109	6003	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605624C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11385G>A	2.37:g.179605624C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.Q3874Q|TTN_uc010zfj.1_Silent_p.Q3749Q|TTN_uc002umz.1_Intron	p.Q3941Q	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12047	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11823G>A																																																																																					PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	136	40	136	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180310440	180310440	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:180310440G>T	ENST00000410066.1	-	8	1535	c.932C>A	c.(931-933)aCc>aAc	p.T311N	ZNF385B_ENST00000336917.5_Missense_Mutation_p.T209N|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.T235N|ZNF385B_ENST00000409692.1_Missense_Mutation_p.T209N	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	311	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.T311N(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCAACCATGGTCTTGTGTTT	0.388																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)ACC>AAC		zinc finger protein 385B isoform 1							108.0	100.0	103.0					2																	180310440		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180310440G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.932C>A	2.37:g.180310440G>T	ENSP00000386845:p.Thr311Asn					ZNF385B_uc002unj.2_Missense_Mutation_p.T209N|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.T208N|ZNF385B_uc002unm.2_Missense_Mutation_p.T235N	p.T311N	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		8	1536	-			311			Matrin-type 3.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.932C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933728	0.92458	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;1.03	6.07	6.07	0.98685	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.62826	-0.6772	10	0.35671	T	0.21	-11.2948	20.6593	0.99626	0.0:0.0:1.0:0.0	.	311;235	Q569K4;Q569K4-2	Z385B_HUMAN;.	N	311;209;235;209;209	ENSP00000386845:T311N;ENSP00000338225:T209N;ENSP00000386379:T235N;ENSP00000386507:T209N;ENSP00000394038:T209N	ENSP00000338225:T209N	T	-	2	0	ZNF385B	180018685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	ACC		PASS	0.388	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		31	97	31	97	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180810308	180810308	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:180810308C>T	ENST00000410053.3	-	20	2574	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	CWC22_ENST00000295749.6_Missense_Mutation_p.E759K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	759					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.E759K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTTTCTCTCTCAGTCCTTGTT	0.373																																						uc010frh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2275-2277)GAG>AAG		CWC22 spliceosome-associated protein homolog							184.0	168.0	173.0					2																	180810308		1850	4097	5947	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810308C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2275G>A	2.37:g.180810308C>T	ENSP00000387006:p.Glu759Lys					CWC22_uc002uno.2_Missense_Mutation_p.E281K|CWC22_uc002unp.2_Missense_Mutation_p.E759K	p.E759K	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			20	2575	-			759					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2275G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771822	0.31320	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.21932	1.98;1.98	5.02	5.02	0.67125	.	0.547984	0.19658	N	0.109042	T	0.21062	0.0507	L	0.50333	1.59	0.50632	D	0.999884	B	0.31318	0.319	B	0.21360	0.034	T	0.03139	-1.1068	10	0.54805	T	0.06	-9.9304	15.853	0.78947	0.0:1.0:0.0:0.0	.	759	Q9HCG8	CWC22_HUMAN	K	759	ENSP00000387006:E759K;ENSP00000295749:E759K	ENSP00000295749:E759K	E	-	1	0	CWC22	180518553	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	5.134000	0.64770	2.482000	0.83794	0.655000	0.94253	GAG		PASS	0.373	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		27	148	27	148	---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182363449	182363449	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:182363449G>A	ENST00000397033.2	+	15	2070	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	547					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.S547N(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)	ATTACAGGAAGCATACAGGTG	0.368																																						uc002unu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1639-1641)AGC>AAC		integrin alpha 4 precursor	Natalizumab(DB00108)						99.0	97.0	98.0					2																	182363449		2012	4178	6190	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.chr2:182363449G>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.1640G>A	2.37:g.182363449G>A	ENSP00000380227:p.Ser547Asn					ITGA4_uc010frj.1_Missense_Mutation_p.S29N	p.S547N	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2403	+			547			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1640G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	7.298	0.612538	0.14066	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.46819	0.86;0.86	5.62	2.82	0.32997	Integrin alpha-2 (1);	0.264295	0.44097	D	0.000497	T	0.35364	0.0929	L	0.56769	1.78	0.33201	D	0.552092	B;B	0.14438	0.01;0.005	B;B	0.19666	0.026;0.018	T	0.30909	-0.9962	10	0.13853	T	0.58	.	2.9889	0.05977	0.2033:0.1209:0.551:0.1248	.	369;547	Q59H74;P13612	.;ITA4_HUMAN	N	547	ENSP00000380227:S547N;ENSP00000233573:S547N	ENSP00000233573:S547N	S	+	2	0	ITGA4	182071694	0.956000	0.32656	0.769000	0.31535	0.015000	0.08874	1.013000	0.29937	0.309000	0.22966	-0.259000	0.10710	AGC		PASS	0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			55	80	55	80	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543437	182543437	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:182543437C>A	ENST00000295108.3	-	2	608	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	51					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|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 transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D51Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCAGTGAGTCCTCCTCTGCG	0.562																																						uc002uof.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)GAC>TAC		neurogenic differentiation 1							133.0	103.0	113.0					2																	182543437		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543437C>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.151G>T	2.37:g.182543437C>A	ENSP00000295108:p.Asp51Tyr					CERKL_uc002uod.1_Intron	p.D51Y	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	387	-			51					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.151G>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070590	0.76301	.	.	ENSG00000162992	ENST00000295108	D	0.95588	-3.75	5.9	5.9	0.94986	.	0.281498	0.32503	N	0.006008	D	0.91885	0.7431	L	0.40543	1.245	0.58432	D	0.999998	P	0.49090	0.919	B	0.34779	0.189	D	0.92806	0.6260	10	0.62326	D	0.03	-0.0043	17.7728	0.88497	0.0:1.0:0.0:0.0	.	51	Q13562	NDF1_HUMAN	Y	51	ENSP00000295108:D51Y	ENSP00000295108:D51Y	D	-	1	0	NEUROD1	182251682	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.332000	0.43903	2.788000	0.95919	0.650000	0.86243	GAC		PASS	0.562	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		6	20	6	20	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183902800	183902800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:183902800G>A	ENST00000361354.4	-	1	400	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.Q10*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	10					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.Q10*(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGCTTCTGCTGACTGGGCTGC	0.711																																						uc002upc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(28-30)CAG>TAG		NCK-associated protein 1 isoform 1							22.0	23.0	23.0					2																	183902800		2202	4298	6500	SO:0001587	stop_gained	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183902800G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.28C>T	2.37:g.183902800G>A	ENSP00000355348:p.Gln10*					NCKAP1_uc002upb.2_Nonsense_Mutation_p.Q10*	p.Q10*	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		1	430	-			10					O60329|Q53QN5|Q53S94|Q53Y35	Nonsense_Mutation	SNP	ENST00000361354.4	37	c.28C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	45	11.483895	0.99566	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	2.7	2.7	0.31948	.	0.148434	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	0.558	13.4056	0.60911	0.0:0.0:1.0:0.0	.	.	.	.	X	10	.	ENSP00000354251:Q10X	Q	-	1	0	NCKAP1	183611045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.660000	0.83776	1.505000	0.48720	0.407000	0.27541	CAG		PASS	0.711	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		5	23	5	23	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802654	185802654	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:185802654C>T	ENST00000302277.6	+	4	3125	c.2531C>T	c.(2530-2532)cCt>cTt	p.P844L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	844							metal ion binding (GO:0046872)	p.P844L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCTTAAATCCTCTGGATAGG	0.358																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2530-2532)CCT>CTT		zinc finger protein 804A							51.0	54.0	53.0					2																	185802654		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802654C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2531C>T	2.37:g.185802654C>T	ENSP00000303252:p.Pro844Leu						p.P844L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3125	+			844					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2531C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943001	0.02322	.	.	ENSG00000170396	ENST00000302277	T	0.04970	3.52	5.33	1.36	0.22044	.	1.537750	0.03712	N	0.250381	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.41161	-0.9524	10	0.10902	T	0.67	-0.2837	6.0112	0.19578	0.5358:0.2549:0.0:0.2092	.	844	Q7Z570	Z804A_HUMAN	L	844	ENSP00000303252:P844L	ENSP00000303252:P844L	P	+	2	0	ZNF804A	185510899	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.741000	0.26202	0.328000	0.23435	-0.397000	0.06425	CCT		PASS	0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		31	46	31	46	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189899670	189899670	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:189899670C>G	ENST00000374866.3	-	53	4599	c.4325G>C	c.(4324-4326)cGg>cCg	p.R1442P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1442	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1442P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACGATATACCGGAATCTAAT	0.348																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4324-4326)CGG>CCG		alpha 2 type V collagen preproprotein							126.0	124.0	125.0					2																	189899670		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899670C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4325G>C	2.37:g.189899670C>G	ENSP00000364000:p.Arg1442Pro					COL5A2_uc010frx.2_Missense_Mutation_p.R1018P	p.R1442P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4600	-			1442			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4325G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527249	0.64860	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74106	-0.81	5.81	5.81	0.92471	Fibrillar collagen, C-terminal (4);	0.000000	0.51477	D	0.000086	D	0.85115	0.5623	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	T	0.82108	-0.0620	10	0.33141	T	0.24	.	20.0684	0.97708	0.0:1.0:0.0:0.0	.	1082;1442	Q5PR22;P05997	.;CO5A2_HUMAN	P	1442;1082	ENSP00000364000:R1442P	ENSP00000364000:R1442P	R	-	2	0	COL5A2	189607915	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.235000	0.51328	2.734000	0.93682	0.650000	0.86243	CGG		PASS	0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		20	123	20	123	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190532308	190532308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:190532308C>T	ENST00000260952.4	+	4	1863	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	484	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.Q484*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAAATCCTATCAGAGCAATGC	0.408																																						uc002uqt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1450-1452)CAG>TAG		asparagine synthetase domain containing 1							152.0	151.0	152.0					2																	190532308		2088	4226	6314	SO:0001587	stop_gained	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532308C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1450C>T	2.37:g.190532308C>T	ENSP00000260952:p.Gln484*						p.Q484*	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1884	+			484			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Nonsense_Mutation	SNP	ENST00000260952.4	37	c.1450C>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758303	0.96898	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	.	.	.	5.72	1.49	0.22878	.	0.826576	0.11397	N	0.568185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-3.0749	10.1416	0.42738	0.4675:0.3292:0.2033:0.0	.	.	.	.	X	484	.	ENSP00000260952:Q484X	Q	+	1	0	ASNSD1	190240553	0.946000	0.32159	0.912000	0.35992	0.608000	0.37181	0.278000	0.18753	0.267000	0.21916	0.561000	0.74099	CAG		PASS	0.408	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		58	213	58	213	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191862686	191862686	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:191862686G>T	ENST00000361099.3	-	9	1068	c.681C>A	c.(679-681)acC>acA	p.T227T	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.T227T|STAT1_ENST00000392322.3_Silent_p.T227T|STAT1_ENST00000392323.2_Silent_p.T229T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	227					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.T227T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GGGCATTCTGGGTAAGTTCAG	0.423																																						uc002usj.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(679-681)ACC>ACA		signal transducer and activator of transcription	Fludarabine(DB01073)						84.0	79.0	81.0					2																	191862686		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862686G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.681C>A	2.37:g.191862686G>T						STAT1_uc010fse.1_Silent_p.T227T|STAT1_uc002usk.2_Silent_p.T227T|STAT1_uc002usl.2_Silent_p.T229T|STAT1_uc010fsf.1_Silent_p.T39T	p.T227T	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1069	-			227					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.681C>A	CCDS2309.1																																																																																				PASS	0.423	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		20	81	20	81	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196664154	196664154	+	Missense_Mutation	SNP	G	G	T	rs202016271		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:196664154G>T	ENST00000312428.6	-	55	10319	c.10219C>A	c.(10219-10221)Cgt>Agt	p.R3407S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3407	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R3407S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGAATGCACGTCCCAATCTG	0.413																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(10219-10221)CGT>AGT		dynein, axonemal, heavy chain 7							96.0	98.0	97.0					2																	196664154		1854	4098	5952	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664154G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10219C>A	2.37:g.196664154G>T	ENSP00000311273:p.Arg3407Ser						p.R3407S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			55	10320	-			3407			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10219C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	4.292	0.053386	0.08291	.	.	ENSG00000118997	ENST00000312428	T	0.07114	3.22	5.07	5.07	0.68467	Dynein heavy chain (1);	0.124768	0.53938	D	0.000051	T	0.07773	0.0195	L	0.28400	0.85	0.40093	D	0.976276	B	0.25719	0.132	B	0.33620	0.167	T	0.25984	-1.0116	10	0.09843	T	0.71	.	13.2348	0.59963	0.0:0.0:0.841:0.159	.	3407	Q8WXX0	DYH7_HUMAN	S	3407	ENSP00000311273:R3407S	ENSP00000311273:R3407S	R	-	1	0	DNAH7	196372399	0.802000	0.28943	0.376000	0.26042	0.046000	0.14306	3.560000	0.53763	2.619000	0.88677	0.557000	0.71058	CGT		PASS	0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		59	91	59	91	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197092865	197092865	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:197092865A>G	ENST00000260983.3	-	22	4060	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	HECW2_ENST00000409111.1_Missense_Mutation_p.I937T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1293	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I1293T(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATAGGACTTATTTGTACTGT	0.353																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3877-3879)ATA>ACA		HECT, C2 and WW domain containing E3 ubiquitin							103.0	103.0	103.0					2																	197092865		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197092865A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3878T>C	2.37:g.197092865A>G	ENSP00000260983:p.Ile1293Thr					HECW2_uc002utl.1_Missense_Mutation_p.I937T	p.I1293T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			22	4061	-			1293			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3878T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430865	0.83776	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.56776	0.44;0.44	5.54	5.54	0.83059	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75283	-0.3372	10	0.87932	D	0	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	1293	Q9P2P5	HECW2_HUMAN	T	937;1293	ENSP00000386775:I937T;ENSP00000260983:I1293T	ENSP00000260983:I1293T	I	-	2	0	HECW2	196801110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.326000	0.78906	0.533000	0.62120	ATA		PASS	0.353	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		69	79	69	79	---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198288681	198288681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:198288681G>A	ENST00000335508.6	-	2	137	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SF3B1_ENST00000487698.1_Nonsense_Mutation_p.R16*|SF3B1_ENST00000414963.2_Nonsense_Mutation_p.R16*|SF3B1_ENST00000409915.4_Nonsense_Mutation_p.R16*	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	16					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R16*(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGAATTTCTCGAATCTGTGCT	0.373			Mis		myelodysplastic syndrome																																	uc002uue.2				Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Nonsense(1)		lung(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(46-48)CGA>TGA		splicing factor 3b, subunit 1 isoform 1							59.0	54.0	56.0					2																	198288681		2203	4300	6503	SO:0001587	stop_gained	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198288681G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.46C>T	2.37:g.198288681G>A	ENSP00000335321:p.Arg16*					SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Nonsense_Mutation_p.R16*|SF3B1_uc002uug.2_Nonsense_Mutation_p.R16*	p.R16*	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		2	94	-			16					E9PCH3	Nonsense_Mutation	SNP	ENST00000335508.6	37	c.46C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753045	0.96890	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	5.86	5.86	0.93980	.	0.074735	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000335321:R16X	R	-	1	2	SF3B1	197996926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.706000	0.74649	2.937000	0.99478	0.650000	0.86243	CGA		PASS	0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			20	73	20	73	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201477417	201477417	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:201477417G>A	ENST00000374700.2	+	14	1590	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	450					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.G450E(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCTTTTTTGGAGAAGGGGAT	0.473																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1348-1350)GGA>GAA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						126.0	121.0	123.0					2																	201477417		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201477417G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1349G>A	2.37:g.201477417G>A	ENSP00000363832:p.Gly450Glu					AOX1_uc010zhf.1_Missense_Mutation_p.G6E|AOX1_uc010fsu.2_5'UTR	p.G450E	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1450	+			450					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1349G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	3.157	-0.172943	0.06421	.	.	ENSG00000138356	ENST00000374700	T	0.20738	2.05	5.41	4.46	0.54185	CO dehydrogenase flavoprotein, C-terminal (3);	0.541429	0.20687	N	0.087537	T	0.04952	0.0133	N	0.01242	-0.935	0.25252	N	0.989664	B	0.02656	0.0	B	0.06405	0.002	T	0.46062	-0.9218	10	0.02654	T	1	-16.7197	4.4707	0.11712	0.2734:0.0:0.7266:0.0	.	450	Q06278	ADO_HUMAN	E	450	ENSP00000363832:G450E	ENSP00000363832:G450E	G	+	2	0	AOX1	201185662	0.999000	0.42202	0.996000	0.52242	0.730000	0.41778	2.883000	0.48554	2.816000	0.96949	0.561000	0.74099	GGA		PASS	0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		51	70	51	70	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202569893	202569893	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:202569893C>T	ENST00000264276.6	-	31	5029	c.4657G>A	c.(4657-4659)Gcc>Acc	p.A1553T	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1553	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A1553T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACTGCTGAGGCAAAACAAGCA	0.358																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(4657-4659)GCC>ACC		alsin isoform 1							80.0	73.0	75.0					2																	202569893		1868	4109	5977	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202569893C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4657G>A	2.37:g.202569893C>T	ENSP00000264276:p.Ala1553Thr					ALS2_uc010ftl.2_RNA	p.A1553T	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			31	5013	-			1553			VPS9.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4657G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056228	0.93793	.	.	ENSG00000003393	ENST00000264276	T	0.29655	1.56	5.59	5.59	0.84812	Vacuolar sorting protein 9 (2);	0.052927	0.64402	D	0.000001	T	0.32645	0.0836	L	0.34521	1.04	0.80722	D	1	B	0.29341	0.242	B	0.37198	0.243	T	0.05484	-1.0882	10	0.36615	T	0.2	.	19.5918	0.95518	0.0:1.0:0.0:0.0	.	1553	Q96Q42	ALS2_HUMAN	T	1553	ENSP00000264276:A1553T	ENSP00000264276:A1553T	A	-	1	0	ALS2	202278138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.239000	0.58694	2.635000	0.89317	0.462000	0.41574	GCC		PASS	0.358	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		14	43	14	43	---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207017163	207017163	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:207017163G>C	ENST00000233190.6	-	3	399	c.133C>G	c.(133-135)Ccg>Gcg	p.P45A	NDUFS1_ENST00000440274.1_Missense_Mutation_p.P45A|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P45A|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P59A	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	45	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.P45A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCGTTCCCGGTTCCACCATG	0.368																																						uc002vbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)CCG>GCG		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						131.0	112.0	119.0					2																	207017163		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207017163G>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.133C>G	2.37:g.207017163G>C	ENSP00000233190:p.Pro45Ala					NDUFS1_uc010ziq.1_Missense_Mutation_p.P59A|NDUFS1_uc010zir.1_Missense_Mutation_p.P45A|NDUFS1_uc010zis.1_Intron|NDUFS1_uc010zit.1_Intron|NDUFS1_uc010ziu.1_Intron	p.P45A	NM_005006	NP_004997	P28331	NDUS1_HUMAN			3	260	-			45			2Fe-2S ferredoxin-type.		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.133C>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834177	0.32421	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	T;D;T;T;T	0.88896	-0.95;-2.44;-0.95;-0.95;-0.95	5.9	5.9	0.94986	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.28400	0.85	0.80722	D	1	B;B;B	0.26602	0.154;0.051;0.129	B;B;B	0.37387	0.163;0.17;0.248	T	0.79339	-0.1844	10	0.07175	T	0.84	-2.0444	20.2723	0.98479	0.0:0.0:1.0:0.0	.	45;59;45	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	A	45;45;59;45;45	ENSP00000233190:P45A;ENSP00000409766:P45A;ENSP00000392709:P59A;ENSP00000399912:P45A;ENSP00000389413:P45A	ENSP00000233190:P45A	P	-	1	0	NDUFS1	206725408	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.206000	0.95056	2.793000	0.96121	0.563000	0.77884	CCG		PASS	0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		27	116	27	116	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208866341	208866341	+	Missense_Mutation	SNP	T	T	A	rs368826235		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:208866341T>A	ENST00000427836.2	-	2	512	c.23A>T	c.(22-24)gAt>gTt	p.D8V	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D8V|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.D8V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	8					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.D8V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCTGATATCATCCACTTC	0.478																																						uc002vcl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(22-24)GAT>GTT		pleckstrin homology domain containing, family M,							125.0	117.0	120.0					2																	208866341		1877	4104	5981	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208866341T>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.23A>T	2.37:g.208866341T>A	ENSP00000417003:p.Asp8Val					PLEKHM3_uc002vcm.2_Missense_Mutation_p.D8V	p.D8V	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	513	-			8					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.23A>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996084	0.74703	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.89270	-2.34;-2.38;-2.49	5.71	5.71	0.89125	.	0.064020	0.64402	D	0.000016	D	0.91513	0.7320	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92643	0.6126	10	0.87932	D	0	-2.0595	16.3264	0.82983	0.0:0.0:0.0:1.0	.	8;8	C9J119;Q6ZWE6	.;PKHM3_HUMAN	V	8	ENSP00000417003:D8V;ENSP00000373899:D8V;ENSP00000400150:D8V	ENSP00000373899:D8V	D	-	2	0	PLEKHM3	208574586	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.789000	0.69029	2.313000	0.78055	0.456000	0.33151	GAT		PASS	0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		90	110	90	110	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210888807	210888807	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:210888807C>A	ENST00000281772.9	-	14	2946	c.2683G>T	c.(2683-2685)Gat>Tat	p.D895Y	KANSL1L_ENST00000418791.1_Missense_Mutation_p.D853Y	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	895						histone acetyltransferase complex (GO:0000123)		p.D895Y(1)									GCACACAGATCCTGGTTCTCT	0.403																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2683-2685)GAT>TAT		hypothetical protein LOC151050							88.0	85.0	86.0					2																	210888807		2203	4299	6502	SO:0001583	missense	151050							g.chr2:210888807C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2683G>T	2.37:g.210888807C>A	ENSP00000281772:p.Asp895Tyr					C2orf67_uc002vdt.2_Missense_Mutation_p.D853Y	p.D895Y	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	14	2891	-		Renal(323;0.202)	895					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2683G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383407	0.42207	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	T;T	0.42513	0.97;0.97	5.77	3.95	0.45737	.	0.761576	0.11880	N	0.520623	T	0.36358	0.0964	L	0.34521	1.04	0.19575	N	0.999961	D;D	0.56035	0.974;0.974	P;P	0.54312	0.748;0.748	T	0.15665	-1.0429	10	0.02654	T	1	.	5.8289	0.18568	0.0:0.6862:0.0:0.3138	.	853;895	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	Y	895;853	ENSP00000281772:D895Y;ENSP00000405724:D853Y	ENSP00000281772:D895Y	D	-	1	0	C2orf67	210597052	0.000000	0.05858	0.017000	0.16124	0.023000	0.10783	0.306000	0.19279	1.426000	0.47256	0.650000	0.86243	GAT		PASS	0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		28	90	28	90	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212566848	212566848	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:212566848G>A	ENST00000342788.4	-	12	1643	c.1333C>T	c.(1333-1335)Cta>Tta	p.L445L	ERBB4_ENST00000436443.1_Silent_p.L445L|ERBB4_ENST00000402597.1_Silent_p.L445L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	445					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L445L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGGAACTGTAGAGAGGTGATG	0.448										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - coding silent(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1333-1335)CTA>TTA		v-erb-a erythroblastic leukemia viral oncogene							143.0	131.0	135.0					2																	212566848		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212566848G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1333C>T	2.37:g.212566848G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.L445L|ERBB4_uc010zji.1_Silent_p.L445L|ERBB4_uc010zjj.1_Silent_p.L445L|ERBB4_uc010fut.1_Silent_p.L445L	p.L445L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	12	1431	-		Renal(323;0.06)|Lung NSC(271;0.197)	445			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.1333C>T	CCDS2394.1																																																																																				PASS	0.448	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		39	120	39	120	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216247016	216247016	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:216247016G>T	ENST00000359671.1	-	31	5075	c.4810C>A	c.(4810-4812)Ccc>Acc	p.P1604T	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000323926.6_Missense_Mutation_p.P1695T|FN1_ENST00000345488.5_Missense_Mutation_p.P1604T|FN1_ENST00000354785.4_Missense_Mutation_p.P1695T|FN1_ENST00000346544.3_Missense_Mutation_p.P1604T|FN1_ENST00000357867.4_Missense_Mutation_p.P1604T|FN1_ENST00000336916.4_Missense_Mutation_p.P1604T|FN1_ENST00000446046.1_Missense_Mutation_p.P1604T|FN1_ENST00000357009.2_Missense_Mutation_p.P1604T|FN1_ENST00000356005.4_Missense_Mutation_p.P1604T|FN1_ENST00000421182.1_Missense_Mutation_p.P1604T|FN1_ENST00000443816.1_Missense_Mutation_p.P1604T|FN1_ENST00000432072.2_Missense_Mutation_p.P1695T			P02751	FINC_HUMAN	fibronectin 1	1604	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.P1604T(1)|p.P1695T(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCCACTGTGGGCTGCAAGCCT	0.473																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5083-5085)CCC>ACC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						93.0	81.0	85.0					2																	216247016		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216247016G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4810C>A	2.37:g.216247016G>T	ENSP00000352696:p.Pro1604Thr					FN1_uc002vfb.2_Missense_Mutation_p.P1604T|FN1_uc002vfc.2_Missense_Mutation_p.P1604T|FN1_uc002vfd.2_Missense_Mutation_p.P1695T|FN1_uc002vfe.2_Missense_Mutation_p.P1604T|FN1_uc002vff.2_Missense_Mutation_p.P1604T|FN1_uc002vfg.2_Missense_Mutation_p.P1604T|FN1_uc002vfh.2_Missense_Mutation_p.P1604T|FN1_uc002vfi.2_Missense_Mutation_p.P1695T|FN1_uc002vfj.2_Missense_Mutation_p.P1695T|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.P322T|FN1_uc010fvc.1_Missense_Mutation_p.P57T|FN1_uc010fvd.1_Missense_Mutation_p.P57T	p.P1695T	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	32	5349	-		Renal(323;0.127)	1694			Fibronectin type-III 12; extra domain.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5083C>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.986951	0.93106	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.91	5.91	0.95273	.	0.084158	0.51477	D	0.000097	D	0.85881	0.5800	M	0.90595	3.13	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.457;0.994;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.646;0.966;0.999;1.0;1.0;1.0;0.999;0.999;0.999	D	0.85504	0.1193	10	0.41790	T	0.15	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1395;1604;1695;1695;1604;1604;1604;1604;1605;1604;1604;1695	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	T	1604;1695;1604;1604;1695;1605;1604;1604;1604;1604;1604;1604;1695;1604;411	ENSP00000394423:P1604T;ENSP00000323534:P1695T;ENSP00000338200:P1604T;ENSP00000350534:P1604T;ENSP00000346839:P1695T;ENSP00000352696:P1604T;ENSP00000265312:P1604T;ENSP00000273049:P1604T;ENSP00000349509:P1604T;ENSP00000410422:P1604T;ENSP00000415018:P1604T;ENSP00000399538:P1695T;ENSP00000348285:P1604T;ENSP00000416139:P411T	ENSP00000265313:P1605T	P	-	1	0	FN1	215955261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.793000	0.96121	0.655000	0.94253	CCC		PASS	0.473	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		33	41	33	41	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216285475	216285475	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:216285475G>C	ENST00000359671.1	-	11	1861	c.1596C>G	c.(1594-1596)caC>caG	p.H532Q	FN1_ENST00000426059.1_Missense_Mutation_p.H532Q|FN1_ENST00000323926.6_Missense_Mutation_p.H532Q|FN1_ENST00000354785.4_Missense_Mutation_p.H532Q|FN1_ENST00000346544.3_Missense_Mutation_p.H532Q|FN1_ENST00000345488.5_Missense_Mutation_p.H532Q|FN1_ENST00000357867.4_Missense_Mutation_p.H532Q|FN1_ENST00000336916.4_Missense_Mutation_p.H532Q|FN1_ENST00000446046.1_Missense_Mutation_p.H532Q|FN1_ENST00000357009.2_Missense_Mutation_p.H532Q|FN1_ENST00000356005.4_Missense_Mutation_p.H532Q|FN1_ENST00000421182.1_Missense_Mutation_p.H532Q|FN1_ENST00000443816.1_Missense_Mutation_p.H532Q|FN1_ENST00000432072.2_Missense_Mutation_p.H532Q			P02751	FINC_HUMAN	fibronectin 1	532	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.H532Q(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CATGACGCTTGTGGAATGTGT	0.473																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1594-1596)CAC>CAG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						190.0	149.0	162.0					2																	216285475		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285475G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1596C>G	2.37:g.216285475G>C	ENSP00000352696:p.His532Gln					FN1_uc002vfb.2_Missense_Mutation_p.H532Q|FN1_uc002vfc.2_Missense_Mutation_p.H532Q|FN1_uc002vfd.2_Missense_Mutation_p.H532Q|FN1_uc002vfe.2_Missense_Mutation_p.H532Q|FN1_uc002vff.2_Missense_Mutation_p.H532Q|FN1_uc002vfg.2_Missense_Mutation_p.H532Q|FN1_uc002vfh.2_Missense_Mutation_p.H532Q|FN1_uc002vfi.2_Missense_Mutation_p.H532Q|FN1_uc002vfj.2_Missense_Mutation_p.H532Q|FN1_uc002vfl.2_Missense_Mutation_p.H532Q	p.H532Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1862	-		Renal(323;0.127)	532			Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1596C>G		.	.	.	.	.	.	.	.	.	.	G	16.81	3.225678	0.58668	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.57	3.54	0.40534	.	0.363457	0.27266	N	0.020158	T	0.45796	0.1360	N	0.25647	0.755	0.47065	D	0.999305	P;D;D;D;P;P;D;D;P;P;D	0.76494	0.912;0.998;0.963;0.996;0.943;0.954;0.978;0.999;0.943;0.943;0.998	P;D;P;P;B;B;P;D;B;B;D	0.83275	0.601;0.994;0.682;0.893;0.318;0.446;0.604;0.996;0.318;0.318;0.995	T	0.36114	-0.9761	10	0.48119	T	0.1	.	6.546	0.22406	0.1786:0.1402:0.6812:0.0	.	532;532;532;532;532;532;532;532;532;532;532	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	532	ENSP00000394423:H532Q;ENSP00000323534:H532Q;ENSP00000338200:H532Q;ENSP00000350534:H532Q;ENSP00000346839:H532Q;ENSP00000352696:H532Q;ENSP00000265312:H532Q;ENSP00000273049:H532Q;ENSP00000349509:H532Q;ENSP00000410422:H532Q;ENSP00000415018:H532Q;ENSP00000399538:H532Q;ENSP00000348285:H532Q;ENSP00000398907:H532Q	ENSP00000265313:H532Q	H	-	3	2	FN1	215993720	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.045000	0.30341	0.643000	0.30638	0.655000	0.94253	CAC		PASS	0.473	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		21	80	21	80	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219544402	219544402	+	Missense_Mutation	SNP	C	C	T	rs138126812		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:219544402C>T	ENST00000295709.3	+	8	1177	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	STK36_ENST00000392105.3_Missense_Mutation_p.R300C|STK36_ENST00000392106.2_Missense_Mutation_p.R300C|STK36_ENST00000440309.1_Missense_Mutation_p.R300C	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.R300C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TAATCAGTCTCGCATCTTGAC	0.562																																						uc002viu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(898-900)CGC>TGC		serine/threonine kinase 36		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	50.0	54.0	53.0		898	3.6	0.3	2	dbSNP_134	53	0,8600		0,0,4300	no	missense	STK36	NM_015690.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	300/1316	219544402	1,13005	2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219544402C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.898C>T	2.37:g.219544402C>T	ENSP00000295709:p.Arg300Cys					STK36_uc002viv.2_Missense_Mutation_p.R300C	p.R300C	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	8	1164	+		Renal(207;0.0915)	300						Missense_Mutation	SNP	ENST00000295709.3	37	c.898C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168766	0.38315	2.27E-4	0.0	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.72835	-0.69;-0.68;-0.68;-0.69	5.38	3.6	0.41247	.	0.307197	0.23738	N	0.045045	T	0.54983	0.1892	L	0.32530	0.975	0.26625	N	0.972574	B;B	0.20671	0.047;0.035	B;B	0.14023	0.01;0.007	T	0.51725	-0.8669	10	0.72032	D	0.01	-2.8604	5.1522	0.15015	0.2042:0.6279:0.0:0.1678	.	300;300	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	C	300	ENSP00000295709:R300C;ENSP00000375955:R300C;ENSP00000375954:R300C;ENSP00000394095:R300C	ENSP00000295709:R300C	R	+	1	0	STK36	219252646	0.980000	0.34600	0.302000	0.25058	0.937000	0.57800	1.447000	0.35101	0.848000	0.35191	-0.150000	0.13652	CGC		PASS	0.562	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			14	45	14	45	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220162770	220162770	+	Missense_Mutation	SNP	C	C	A	rs200004871		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:220162770C>A	ENST00000295718.2	-	13	1964	c.1724G>T	c.(1723-1725)cGc>cTc	p.R575L	PTPRN_ENST00000409251.3_Missense_Mutation_p.R546L|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.R485L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	575					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R575L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGCACTGAGCGCATGGGTGA	0.637																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1723-1725)CGC>CTC		protein tyrosine phosphatase, receptor type, N							72.0	69.0	70.0					2																	220162770		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162770C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1724G>T	2.37:g.220162770C>A	ENSP00000295718:p.Arg575Leu					PTPRN_uc010zlc.1_Missense_Mutation_p.R485L|PTPRN_uc002vla.2_Missense_Mutation_p.R546L	p.R575L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	1813	-		Renal(207;0.0474)	575			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1724G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244515	0.39697	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03663	3.93;3.86;3.85	4.58	3.71	0.42584	.	0.082114	0.48767	D	0.000166	T	0.09512	0.0234	M	0.64997	1.995	0.48696	D	0.999697	D;B	0.63046	0.992;0.088	P;B	0.54664	0.758;0.07	T	0.11743	-1.0575	10	0.36615	T	0.2	.	10.2802	0.43534	0.0:0.8353:0.0:0.1647	.	546;575	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	546;575;546;485	ENSP00000386638:R546L;ENSP00000295718:R575L;ENSP00000444244:R485L	ENSP00000295718:R575L	R	-	2	0	PTPRN	219871014	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	1.341000	0.33907	1.164000	0.42652	-0.137000	0.14449	CGC		PASS	0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			3	88	3	88	---	---	---	---
AP1S3	130340	broad.mit.edu	37	2	224642556	224642556	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:224642556C>T	ENST00000446015.2	-	2	67	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	AP1S3_ENST00000396653.2_Missense_Mutation_p.G12R|AP1S3_ENST00000396654.2_Missense_Mutation_p.G12R|AP1S3_ENST00000443700.1_Missense_Mutation_p.G12R|AP1S3_ENST00000409375.1_Missense_Mutation_p.G12R|AP1S3_ENST00000423110.1_Missense_Mutation_p.G12R			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	12					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)	p.G12R(1)		NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGTAATTTCCCTTGTCGACTG	0.428																																						uc010fwx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GGG>AGG		adaptor-related protein complex 1, sigma 3							71.0	67.0	68.0					2																	224642556		1870	4107	5977	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224642556C>T	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.34G>A	2.37:g.224642556C>T	ENSP00000388738:p.Gly12Arg					AP1S3_uc002vnn.2_Missense_Mutation_p.G12R|AP1S3_uc010fww.2_RNA|AP1S3_uc002vno.2_RNA	p.G12R	NM_001039569	NP_001034658	Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	186	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	12					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.34G>A		.	.	.	.	.	.	.	.	.	.	C	28.9	4.957325	0.92726	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000396653;ENST00000446015;ENST00000409375;ENST00000423110	.	.	.	5.81	5.81	0.92471	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.963	D	0.93996	0.7271	9	0.87932	D	0	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	12;12	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	R	12	.	ENSP00000333888:G12R	G	-	1	0	AP1S3	224350800	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.470000	0.80973	2.763000	0.94921	0.650000	0.86243	GGG		PASS	0.428	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			22	90	22	90	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225710006	225710006	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:225710006G>C	ENST00000258390.7	-	21	2462	c.2395C>G	c.(2395-2397)Cag>Gag	p.Q799E	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q793E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	799	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q799E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAAGCTATCTGATCGTGTTTC	0.368																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2395-2397)CAG>GAG		dedicator of cytokinesis 10							76.0	68.0	70.0					2																	225710006		1886	4121	6007	SO:0001583	missense	55619						GTP binding	g.chr2:225710006G>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2395C>G	2.37:g.225710006G>C	ENSP00000258390:p.Gln799Glu					DOCK10_uc002vob.2_Missense_Mutation_p.Q793E	p.Q799E	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	21	2634	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	799			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2395C>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185628	0.78677	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13420	2.59;2.59	5.43	5.43	0.79202	.	0.116409	0.64402	D	0.000008	T	0.28995	0.0720	M	0.75777	2.31	0.46774	D	0.999192	P;P	0.43938	0.822;0.722	P;B	0.46718	0.525;0.42	T	0.03394	-1.1041	10	0.87932	D	0	.	19.2567	0.93948	0.0:0.0:1.0:0.0	.	799;793	Q96BY6;B3FL70	DOC10_HUMAN;.	E	793;799	ENSP00000386694:Q793E;ENSP00000258390:Q799E	ENSP00000258390:Q799E	Q	-	1	0	DOCK10	225418250	1.000000	0.71417	0.997000	0.53966	0.739000	0.42172	4.793000	0.62474	2.544000	0.85801	0.655000	0.94253	CAG		PASS	0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	18	4	18	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226516161	226516161	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:226516161C>A	ENST00000272907.6	+	6	2255	c.1842C>A	c.(1840-1842)agC>agA	p.S614R		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	614					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.S614R(1)									CTAAAGTAAGCTGCAAATTAG	0.483																																						uc002voe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1840-1842)AGC>AGA		hypothetical protein LOC57624							166.0	165.0	165.0					2																	226516161		2094	4223	6317	SO:0001583	missense	57624							g.chr2:226516161C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1842C>A	2.37:g.226516161C>A	ENSP00000272907:p.Ser614Arg					KIAA1486_uc010fxa.1_3'UTR|KIAA1486_uc002vof.1_Missense_Mutation_p.S384R	p.S614R	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	6	2017	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	614					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1842C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503248	0.64298	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.92	5.02	0.67125	.	7.804200	0.00166	N	0.000009	T	0.36193	0.0958	N	0.19112	0.55	0.80722	D	1	P;P	0.49090	0.773;0.919	B;P	0.51229	0.387;0.663	T	0.03139	-1.1068	10	0.62326	D	0.03	-0.304	9.7614	0.40534	0.0:0.7617:0.1285:0.1099	.	128;614	Q9P242-3;Q9P242	.;K1486_HUMAN	R	614	ENSP00000272907:S614R	ENSP00000272907:S614R	S	+	3	2	KIAA1486	226224405	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.226000	0.32563	1.452000	0.47756	0.557000	0.71058	AGC		PASS	0.483	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		106	142	106	142	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882159	228882159	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:228882159C>T	ENST00000392056.3	-	7	3457	c.3411G>A	c.(3409-3411)atG>atA	p.M1137I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M1137I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1137						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.M1137I(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)		CTTCATTTTCCATCTGGTTCA	0.537																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3409-3411)ATG>ATA		sphingosine kinase type 1-interacting protein							55.0	46.0	49.0					2																	228882159		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882159C>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.3411G>A	2.37:g.228882159C>T	ENSP00000375909:p.Met1137Ile					SPHKAP_uc002vpp.2_Missense_Mutation_p.M1137I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M1137I	p.M1137I	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	3458	-		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)	1137					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3411G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300801	0.81136	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.39787	1.06;1.06	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.991;0.986;0.996	T	0.57590	-0.7785	10	0.72032	D	0.01	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	168;1137;1137	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1137	ENSP00000375909:M1137I;ENSP00000339886:M1137I	ENSP00000339886:M1137I	M	-	3	0	SPHKAP	228590403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	ATG		PASS	0.537	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		40	37	40	37	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884681	228884681	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:228884681G>T	ENST00000392056.3	-	7	935	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q297K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	297						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.Q297K(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)		TCTAGACTCTGCAAGGCTGTG	0.418																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(889-891)CAG>AAG		sphingosine kinase type 1-interacting protein							232.0	239.0	237.0					2																	228884681		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884681G>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.889C>A	2.37:g.228884681G>T	ENSP00000375909:p.Gln297Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.Q297K|SPHKAP_uc010zlx.1_Missense_Mutation_p.Q297K	p.Q297K	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	936	-		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)	297					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.889C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.901903	0.00517	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11930	2.73;2.74	5.6	2.72	0.32119	.	1.162560	0.05984	N	0.644862	T	0.13798	0.0334	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.43909	-0.9362	10	0.14252	T	0.57	.	7.8889	0.29667	0.0751:0.0:0.6265:0.2984	.	297;297	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	297	ENSP00000375909:Q297K;ENSP00000339886:Q297K	ENSP00000339886:Q297K	Q	-	1	0	SPHKAP	228592925	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.161000	0.31773	0.259000	0.21709	0.650000	0.86243	CAG		PASS	0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		87	348	87	348	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230312225	230312225	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:230312225C>A	ENST00000341772.4	-	8	1427	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	431	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.V431V(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGCAGGGGTCCACCTTTTCTT	0.488																																						uc002vpv.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(1291-1293)GTG>GTT		delta-notch-like EGF repeat-containing							38.0	38.0	38.0					2																	230312225		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230312225C>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1293G>T	2.37:g.230312225C>A						DNER_uc010zly.1_Silent_p.V159V	p.V431V	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	8	1440	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	431			Extracellular (Potential).|EGF-like 6.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.1293G>T	CCDS33390.1																																																																																				PASS	0.488	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		19	43	19	43	---	---	---	---
COPS7B	64708	broad.mit.edu	37	2	232653351	232653351	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:232653351G>C	ENST00000350033.3	+	2	212	c.71G>C	c.(70-72)gGc>gCc	p.G24A	COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.G24A|COPS7B_ENST00000410017.1_Missense_Mutation_p.G24A|COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000373608.3_Missense_Mutation_p.G24A	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	24					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G24A(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTACCAGTGGCTCAGCCCTC	0.498																																						uc002vsg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(70-72)GGC>GCC		COP9 constitutive photomorphogenic homolog							84.0	86.0	85.0					2																	232653351		2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232653351G>C	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.71G>C	2.37:g.232653351G>C	ENSP00000272995:p.Gly24Ala					COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsh.1_Missense_Mutation_p.G24A|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank	p.G24A	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	174	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	24					Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.71G>C	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619049	0.87460	.	.	ENSG00000144524	ENST00000410024;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608	T;T;T;T	0.49139	0.79;0.79;0.8;0.79	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.61515	-0.7047	10	0.30078	T	0.28	-4.9849	18.6105	0.91283	0.0:0.0:1.0:0.0	.	24;24	Q9H9Q2-3;Q9H9Q2	.;CSN7B_HUMAN	A	24	ENSP00000386567:G24A;ENSP00000272995:G24A;ENSP00000386880:G24A;ENSP00000362710:G24A	ENSP00000272995:G24A	G	+	2	0	COPS7B	232361595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.783000	0.91813	2.612000	0.88384	0.563000	0.77884	GGC		PASS	0.498	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		26	71	26	71	---	---	---	---
ECEL1	9427	broad.mit.edu	37	2	233349770	233349770	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:233349770C>T	ENST00000304546.1	-	4	1097	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.R296Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	296					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.R296Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGAGCACTCGCTCCATGAA	0.642																																						uc002vsv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(886-888)CGA>CAA		endothelin converting enzyme-like 1							66.0	62.0	64.0					2																	233349770		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349770C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.887G>A	2.37:g.233349770C>T	ENSP00000302051:p.Arg296Gln					ECEL1_uc010fya.1_Missense_Mutation_p.R296Q|ECEL1_uc010fyb.1_Missense_Mutation_p.R3Q	p.R296Q	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	4	1092	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	296			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.887G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380714	0.42207	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.81821	-1.54;-1.54	5.36	5.36	0.76844	Peptidase M13 (1);	0.056389	0.64402	D	0.000006	T	0.60702	0.2289	N	0.12637	0.245	0.51012	D	0.999903	D;B	0.56968	0.978;0.106	B;B	0.40982	0.345;0.036	T	0.64618	-0.6365	10	0.06757	T	0.87	-28.2133	12.4392	0.55615	0.0:0.923:0.0:0.077	.	296;296	O95672-2;O95672	.;ECEL1_HUMAN	Q	296	ENSP00000302051:R296Q;ENSP00000386333:R296Q	ENSP00000302051:R296Q	R	-	2	0	ECEL1	233058014	0.998000	0.40836	0.997000	0.53966	0.917000	0.54804	3.698000	0.54771	2.513000	0.84729	0.462000	0.41574	CGA		PASS	0.642	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		16	64	16	64	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545255	234545255	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:234545255G>C	ENST00000344644.5	+	1	156	c.87G>C	c.(85-87)ctG>ctC	p.L29L	UGT1A10_ENST00000373445.1_Silent_p.L29L|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	29					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.L29L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GGAAGCTGCTGGTAGTGCCCA	0.577																																						uc002vur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(85-87)CTG>CTC		UDP glycosyltransferase 1 family, polypeptide							98.0	88.0	91.0					2																	234545255		2203	4300	6503	SO:0001819	synonymous_variant	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545255G>C	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.87G>C	2.37:g.234545255G>C						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.L29L	p.L29L	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	133	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	29					O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.87G>C	CCDS33403.1																																																																																				PASS	0.577	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		35	122	35	122	---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235951264	235951264	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:235951264C>G	ENST00000409212.1	+	4	2358	c.1851C>G	c.(1849-1851)atC>atG	p.I617M	SH3BP4_ENST00000392011.2_Missense_Mutation_p.I617M|SH3BP4_ENST00000344528.4_Missense_Mutation_p.I617M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	617					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.I617M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGTGCCATCAAGCCTTCCG	0.547																																						uc002vvp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1849-1851)ATC>ATG		SH3-domain binding protein 4							56.0	54.0	55.0					2																	235951264		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951264C>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1851C>G	2.37:g.235951264C>G	ENSP00000386862:p.Ile617Met					SH3BP4_uc010fym.2_Missense_Mutation_p.I617M|SH3BP4_uc002vvq.2_Missense_Mutation_p.I617M	p.I617M	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2244	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	617					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1851C>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	6.982	0.551228	0.13374	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.09723	2.95;2.95;2.95	5.08	3.23	0.37069	.	0.405721	0.29087	N	0.013192	T	0.06280	0.0162	N	0.12182	0.205	0.32729	N	0.509235	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.07462	-1.0771	10	0.44086	T	0.13	-16.9715	9.9427	0.41589	0.0:0.8259:0.0:0.1741	.	617;617	A8K594;Q9P0V3	.;SH3B4_HUMAN	M	617	ENSP00000375867:I617M;ENSP00000386862:I617M;ENSP00000340237:I617M	ENSP00000340237:I617M	I	+	3	3	SH3BP4	235616003	0.996000	0.38824	0.981000	0.43875	0.866000	0.49608	0.627000	0.24506	1.102000	0.41551	0.655000	0.94253	ATC		PASS	0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			24	73	24	73	---	---	---	---
ACKR3	57007	broad.mit.edu	37	2	237489155	237489155	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:237489155A>T	ENST00000272928.3	+	2	357	c.47A>T	c.(46-48)gAc>gTc	p.D16V		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	16					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.D16V(1)									AACTTCTCGGACATCAGCTGG	0.517																																						uc010fyq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(46-48)GAC>GTC		chemokine orphan receptor 1							155.0	108.0	124.0					2																	237489155		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489155A>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.47A>T	2.37:g.237489155A>T	ENSP00000272928:p.Asp16Val					CXCR7_uc002vwd.2_Missense_Mutation_p.D16V	p.D16V	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	277	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	16			Extracellular (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.47A>T	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246483	0.59103	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.71698	0.8;-0.59	5.7	4.56	0.56223	.	0.120038	0.56097	D	0.000039	T	0.54046	0.1834	L	0.27053	0.805	0.58432	D	0.999996	P	0.46277	0.875	B	0.39706	0.307	T	0.57063	-0.7875	10	0.87932	D	0	.	6.5734	0.22551	0.7906:0.0:0.072:0.1374	.	16	P25106	CXCR7_HUMAN	V	16	ENSP00000405945:D16V;ENSP00000272928:D16V	ENSP00000272928:D16V	D	+	2	0	CXCR7	237153894	1.000000	0.71417	0.393000	0.26258	0.930000	0.56654	5.775000	0.68915	1.006000	0.39211	0.533000	0.62120	GAC		PASS	0.517	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		8	67	8	67	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	239988490	239988490	+	Silent	SNP	G	G	A	rs200479723		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:239988490G>A	ENST00000345617.3	-	24	3707	c.2916C>T	c.(2914-2916)ctC>ctT	p.L972L	HDAC4_ENST00000543185.1_Silent_p.L556L|AC017028.9_ENST00000581111.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.3_ENST00000584260.1_RNA|MIR4440_ENST00000583986.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	972	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L972L(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGCCTCCCTCGAGGGCCAGGA	0.632																																						uc002vyk.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2914-2916)CTC>CTT		histone deacetylase 4		G		0,4406		0,0,2203	47.0	45.0	45.0		2916	-4.2	1.0	2		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HDAC4	NM_006037.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		972/1085	239988490	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239988490G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2916C>T	2.37:g.239988490G>A						HDAC4_uc010fyy.2_Silent_p.L929L	p.L972L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	24	3708	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	972			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2916C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428533	0.25726	0.0	1.16E-4	ENSG00000068024	ENST00000430200	.	.	.	4.21	-4.2	0.03823	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	.	3.7084	0.08410	0.3439:0.2306:0.3462:0.0793	.	.	.	.	L	63	.	.	S	-	2	0	HDAC4	239653427	0.000000	0.05858	0.988000	0.46212	0.984000	0.73092	-4.340000	0.00250	-0.505000	0.06568	-0.423000	0.05987	TCG		PASS	0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		22	57	22	57	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241685277	241685277	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:241685277C>A	ENST00000320389.7	-	29	3107	c.2949G>T	c.(2947-2949)ctG>ctT	p.L983L	KIF1A_ENST00000498729.2_Silent_p.L1084L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	983					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.L983L(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGGCCCATCCAGGGCGGCTT	0.612																																						uc002vzy.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2947-2949)CTG>CTT		axonal transport of synaptic vesicles							29.0	35.0	33.0					2																	241685277		1939	4140	6079	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241685277C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2949G>T	2.37:g.241685277C>A						KIF1A_uc010fzk.2_Silent_p.L1084L|KIF1A_uc002vzz.1_Silent_p.L1084L	p.L983L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	29	3095	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	983					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2949G>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156091	0.01686	.	.	ENSG00000130294	ENST00000415042	.	.	.	4.17	1.37	0.22104	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33574	-0.9863	4	.	.	.	.	4.4602	0.11663	0.1536:0.5931:0.0:0.2533	.	.	.	.	L	110	.	.	W	-	2	0	KIF1A	241333950	0.076000	0.21285	0.089000	0.20774	0.062000	0.15995	-0.039000	0.12124	-0.024000	0.13941	-0.643000	0.03959	TGG		PASS	0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		7	19	7	19	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242078087	242078087	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:242078087C>A	ENST00000405260.1	-	5	1421	c.723G>T	c.(721-723)tgG>tgT	p.W241C	PASK_ENST00000234040.4_Missense_Mutation_p.W241C|PASK_ENST00000358649.4_Missense_Mutation_p.W241C|PASK_ENST00000539818.1_Missense_Mutation_p.W25C|PASK_ENST00000403638.3_Missense_Mutation_p.W241C|PASK_ENST00000544142.1_Missense_Mutation_p.W55C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	241					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.W241C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGAAAGCGACCCAGGTCGAGA	0.602																																						uc002wao.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(721-723)TGG>TGT		PAS domain containing serine/threonine kinase							99.0	87.0	91.0					2																	242078087		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242078087C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.723G>T	2.37:g.242078087C>A	ENSP00000384016:p.Trp241Cys					PASK_uc010zol.1_Missense_Mutation_p.W55C|PASK_uc010zom.1_Missense_Mutation_p.W241C|PASK_uc010fzl.1_Missense_Mutation_p.W241C|PASK_uc010zon.1_Missense_Mutation_p.W22C|PASK_uc002waq.2_Missense_Mutation_p.W241C	p.W241C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	5	815	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	241					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.723G>T	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.278|5.278	0.236743|0.236743	0.10023|0.10023	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.68765	.|-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.65|4.65	2.81|2.81	0.32909|0.32909	.|.	.|0.429241	.|0.20107	.|N	.|0.099120	T|T	0.74943|0.74943	0.3783|0.3783	M|M	0.72479|0.72479	2.2|2.2	0.43364|0.43364	D|D	0.995446|0.995446	.|P;P;D;B;P	.|0.89917	.|0.826;0.891;1.0;0.247;0.826	.|B;P;D;B;B	.|0.73380	.|0.196;0.487;0.98;0.117;0.196	T|T	0.71626|0.71626	-0.4536|-0.4536	5|10	.|0.62326	.|D	.|0.03	.|.	3.4659|3.4659	0.07549|0.07549	0.1741:0.5621:0.1689:0.0949|0.1741:0.5621:0.1689:0.0949	.|.	.|241;55;241;241;241	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	V|C	56|241;55;241;241;25;241;25	.|ENSP00000234040:W241C;ENSP00000441374:W55C;ENSP00000384016:W241C;ENSP00000351475:W241C;ENSP00000443083:W25C;ENSP00000384438:W241C;ENSP00000400734:W25C	.|ENSP00000234040:W241C	G|W	-|-	2|3	0|0	PASK|PASK	241726760|241726760	0.847000|0.847000	0.29606|0.29606	0.931000|0.931000	0.37212|0.37212	0.041000|0.041000	0.13682|0.13682	0.017000|0.017000	0.13399|0.13399	0.390000|0.390000	0.25115|0.25115	-0.229000|-0.229000	0.12294|0.12294	GGG|TGG		PASS	0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		19	85	19	85	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242402762	242402762	+	Missense_Mutation	SNP	G	G	T	rs139762137	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:242402762G>T	ENST00000264042.3	+	16	1860	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	FARP2_ENST00000373287.4_Missense_Mutation_p.A564S|FARP2_ENST00000545004.1_Missense_Mutation_p.A564S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	564	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A564S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GTTCCGCAGCGCAGTGGTGAA	0.582																																						uc002wbi.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1690-1692)GCA>TCA		FERM, RhoGEF and pleckstrin domain protein 2							121.0	101.0	107.0					2																	242402762		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242402762G>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1690G>T	2.37:g.242402762G>T	ENSP00000264042:p.Ala564Ser					FARP2_uc010zoq.1_Missense_Mutation_p.A564S|FARP2_uc010zor.1_Missense_Mutation_p.A564S	p.A564S	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	16	1807	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	564			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1690G>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261541	0.80358	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.62941	-0.01;-0.01;-0.01	5.25	5.25	0.73442	Dbl homology (DH) domain (5);	0.061987	0.64402	D	0.000005	T	0.74711	0.3752	M	0.72118	2.19	0.33185	D	0.550026	D;P;D	0.57257	0.979;0.944;0.97	P;P;P	0.61328	0.82;0.669;0.887	T	0.81697	-0.0815	10	0.48119	T	0.1	.	13.7649	0.62988	0.0:0.0:0.8463:0.1537	.	564;564;564	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	S	564	ENSP00000264042:A564S;ENSP00000443876:A564S;ENSP00000362384:A564S	ENSP00000264042:A564S	A	+	1	0	FARP2	242051435	0.955000	0.32602	0.076000	0.20297	0.978000	0.69477	2.922000	0.48860	2.434000	0.82447	0.655000	0.94253	GCA		PASS	0.582	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			15	60	15	60	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242407695	242407695	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:242407695G>T	ENST00000264042.3	+	18	2204	c.2034G>T	c.(2032-2034)ctG>ctT	p.L678L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	678	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L678L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACACGTTCCTGCTGAAGCCCA	0.572																																						uc002wbi.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2032-2034)CTG>CTT		FERM, RhoGEF and pleckstrin domain protein 2							96.0	82.0	87.0					2																	242407695		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242407695G>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2034G>T	2.37:g.242407695G>T							p.L678L	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	18	2151	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	678			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2034G>T	CCDS33424.1																																																																																				PASS	0.572	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			47	46	47	46	---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242758331	242758331	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr2:242758331C>A	ENST00000391969.2	+	5	2123	c.1412C>A	c.(1411-1413)cCc>cAc	p.P471H	NEU4_ENST00000407683.1_Missense_Mutation_p.P471H|NEU4_ENST00000405370.1_Missense_Mutation_p.P471H|NEU4_ENST00000325935.6_Missense_Mutation_p.P484H|NEU4_ENST00000404257.1_Missense_Mutation_p.P483H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	471					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.P483H(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCAAGCCGCCCAACCTTGGG	0.642																																						uc010fzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)CCC>CAC		sialidase 4							12.0	14.0	13.0					2																	242758331		1672	3379	5051	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242758331C>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1412C>A	2.37:g.242758331C>A	ENSP00000375830:p.Pro471His					NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.P471H|NEU4_uc002wcn.1_Missense_Mutation_p.P483H|NEU4_uc002wco.1_Missense_Mutation_p.P471H|NEU4_uc002wcp.1_Missense_Mutation_p.P483H	p.P471H	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	1498	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	471					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.1412C>A	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901638	0.33535	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	T;T;T;T;T	0.76448	-1.01;-1.01;-1.02;-1.01;-1.02	3.69	1.81	0.25067	.	1.647520	0.03685	N	0.246228	T	0.73869	0.3642	L	0.36672	1.1	0.09310	N	1	P;D;P	0.55385	0.951;0.971;0.951	B;P;B	0.50378	0.436;0.639;0.436	T	0.58918	-0.7551	10	0.72032	D	0.01	.	0.8677	0.01207	0.1743:0.3958:0.1703:0.2596	.	483;483;471	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	H	471;471;481;483;471;484	ENSP00000385402:P471H;ENSP00000384804:P471H;ENSP00000385149:P483H;ENSP00000375830:P471H;ENSP00000320318:P484H	ENSP00000320318:P484H	P	+	2	0	NEU4	242407004	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.284000	0.02793	0.170000	0.19704	0.558000	0.71614	CCC		PASS	0.642	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		9	19	9	19	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4808361	4808361	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:4808361G>C	ENST00000443694.2	+	42	5647	c.5647G>C	c.(5647-5649)Gag>Cag	p.E1883Q	ITPR1_ENST00000456211.2_Missense_Mutation_p.E1835Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1850Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1883Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1850Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.E1883Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1898					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E1850Q(2)|p.E1835Q(2)|p.E1883Q(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GAAAGACGATGAGGTAGACAG	0.438																																						uc003bqa.2																			6	Substitution - Missense(6)		lung(6)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(5548-5550)GAG>CAG		inositol 1,4,5-triphosphate receptor, type 1							80.0	76.0	77.0					3																	4808361		1911	4120	6031	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4808361G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5647G>C	3.37:g.4808361G>C	ENSP00000401671:p.Glu1883Gln					ITPR1_uc010hca.1_Missense_Mutation_p.E1835Q|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E820Q	p.E1850Q	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	42	5896	+			1898			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5548G>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928848	0.52759	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.76	5.76	0.90799	.	0.271361	0.41938	D	0.000793	D	0.89719	0.6796	L	0.52573	1.65	0.80722	D	1	B;B	0.28512	0.145;0.214	B;B	0.34652	0.127;0.187	D	0.85651	0.1282	10	0.24483	T	0.36	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1898;1850	Q14643;G5E9P1	ITPR1_HUMAN;.	Q	1898;1883;1883;1850;344;1850;1835;1883	ENSP00000306253:E1883Q;ENSP00000346595:E1883Q;ENSP00000405934:E1850Q;ENSP00000349597:E1850Q;ENSP00000397885:E1835Q;ENSP00000401671:E1883Q	ENSP00000306253:E1883Q	E	+	1	0	ITPR1	4783361	1.000000	0.71417	0.458000	0.27068	0.377000	0.30045	9.740000	0.98839	2.713000	0.92767	0.655000	0.94253	GAG		PASS	0.438	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		24	35	24	35	---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10283900	10283900	+	Silent	SNP	C	C	G	rs369701928		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:10283900C>G	ENST00000256458.4	+	13	1956	c.1866C>G	c.(1864-1866)ctC>ctG	p.L622L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	622					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.L622L(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCATTGAGCTCTTTGGCCCCT	0.448																																						uc003bve.1																			2	Substitution - coding silent(2)		lung(2)	lung(5)|breast(3)	8						c.(1864-1866)CTC>CTG		interleukin-1 receptor-associated kinase 2		C		2,4404	4.2+/-10.8	0,2,2201	80.0	80.0	80.0		1866	-5.1	0.6	3		80	0,8600		0,0,4300	no	coding-synonymous	IRAK2	NM_001570.3		0,2,6501	GG,GC,CC		0.0,0.0454,0.0154		622/626	10283900	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10283900C>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1866C>G	3.37:g.10283900C>G							p.L622L	NM_001570	NP_001561	O43187	IRAK2_HUMAN			13	1942	+			622					B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.1866C>G	CCDS33697.1																																																																																				PASS	0.448	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			20	64	20	64	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11072947	11072947	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:11072947T>A	ENST00000287766.4	+	13	1829	c.1408T>A	c.(1408-1410)Tct>Act	p.S470T	SLC6A1_ENST00000536032.1_Missense_Mutation_p.S292T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	470					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S470T(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TGAATGTGTCTCTATTTCCTG	0.423																																						uc010hdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1408-1410)TCT>ACT		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						241.0	224.0	230.0					3																	11072947		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11072947T>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1408T>A	3.37:g.11072947T>A	ENSP00000287766:p.Ser470Thr						p.S470T	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	13	1819	+		Ovarian(110;0.0392)	470			Helical; Name=10; (Potential).		Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1408T>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753638	0.69648	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.79969	0.4538	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79904	-0.1606	10	0.41790	T	0.15	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	470	P30531	SC6A1_HUMAN	T	470;292	ENSP00000287766:S470T;ENSP00000445171:S292T	ENSP00000287766:S470T	S	+	1	0	SLC6A1	11047947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.942000	0.63547	2.092000	0.63282	0.533000	0.62120	TCT		PASS	0.423	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		107	82	107	82	---	---	---	---
BTD	686	broad.mit.edu	37	3	15686066	15686066	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:15686066C>T	ENST00000303498.5	+	4	812	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	BTD_ENST00000449107.1_Missense_Mutation_p.P237S|BTD_ENST00000437172.1_Missense_Mutation_p.P237S|BTD_ENST00000383778.4_Missense_Mutation_p.P215S	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	235	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.P235S(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTTTGATACCCCCTTTGCTGG	0.448																																						uc003cah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)CCC>TCC		biotinidase precursor							170.0	139.0	149.0					3																	15686066		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686066C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.703C>T	3.37:g.15686066C>T	ENSP00000306477:p.Pro235Ser					BTD_uc011avv.1_Missense_Mutation_p.P237S|BTD_uc011avw.1_Missense_Mutation_p.P237S|BTD_uc011avx.1_Missense_Mutation_p.P215S	p.P235S	NM_000060	NP_000051	P43251	BTD_HUMAN			4	806	+			235			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.703C>T	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579283	0.65878	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.73	5.73	0.89815	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.92003	0.5612	10	0.21540	T	0.41	-14.9433	19.8778	0.96885	0.0:1.0:0.0:0.0	.	237;237;235	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	S	237;235;237;215;215	ENSP00000388212:P237S;ENSP00000306477:P235S;ENSP00000400995:P237S;ENSP00000394277:P215S;ENSP00000373288:P215S	ENSP00000306477:P235S	P	+	1	0	BTD	15661070	1.000000	0.71417	0.997000	0.53966	0.524000	0.34500	5.970000	0.70431	2.709000	0.92574	0.491000	0.48974	CCC		PASS	0.448	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		39	61	39	61	---	---	---	---
THRB	7068	broad.mit.edu	37	3	24188169	24188169	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:24188169C>T	ENST00000356447.4	-	6	813	c.529G>A	c.(529-531)Gat>Aat	p.D177N	THRB_ENST00000396671.2_Missense_Mutation_p.D177N|THRB_ENST00000416420.1_Missense_Mutation_p.D177N|THRB_ENST00000280696.5_Missense_Mutation_p.D192N	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	177					female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D177N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TACTTACAATCTGTTGCCATG	0.408																																					Melanoma(21;896 1043 15021 37958)	uc003ccx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(529-531)GAT>AAT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						139.0	126.0	130.0					3																	24188169		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24188169C>T		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.529G>A	3.37:g.24188169C>T	ENSP00000348827:p.Asp177Asn					THRB_uc010hfe.2_Missense_Mutation_p.D177N|THRB_uc003ccy.3_Missense_Mutation_p.D177N|THRB_uc003ccz.3_Missense_Mutation_p.D172N	p.D177N	NM_001128176	NP_001121648	P10828	THB_HUMAN			7	878	-			177			Nuclear receptor.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.529G>A	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047949	0.97236	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.31	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.64402	D	0.000001	D	0.97436	0.9161	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97502	1.0061	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	177	P10828	THB_HUMAN	N	177;177;177;192	ENSP00000379904:D177N;ENSP00000348827:D177N;ENSP00000414444:D177N;ENSP00000280696:D192N	ENSP00000280696:D192N	D	-	1	0	THRB	24163173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT		PASS	0.408	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		32	73	32	73	---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27329226	27329226	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:27329226A>C	ENST00000429845.2	-	21	2114	c.1752T>G	c.(1750-1752)caT>caG	p.H584Q	NEK10_ENST00000341435.5_Missense_Mutation_p.H584Q|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H584Q(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAATGTTGGGATGATAAAGCT	0.264																																						uc003cdt.1																			3	Substitution - Missense(3)		lung(3)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1750-1752)CAT>CAG		NIMA-related kinase 10 isoform 3							88.0	86.0	86.0					3																	27329226		1566	3572	5138	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27329226A>C	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1752T>G	3.37:g.27329226A>C	ENSP00000395849:p.His584Gln					NEK10_uc003cds.1_5'UTR	p.H584Q	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			21	2026	-			584			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1752T>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.19|16.19|16.19	3.054105|3.054105|3.054105	0.55218|0.55218|0.55218	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275|ENST00000435584	T|.|.	0.78481|.|.	-1.18|.|.	5.32|5.32|5.32	-0.21|-0.21|-0.21	0.13176|0.13176|0.13176	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.104091|.|.	0.64402|.|.	D|.|.	0.000005|.|.	T|T|T	0.79179|0.79179|0.79179	0.4402|0.4402|0.4402	M|M|M	0.94063|0.94063|0.94063	3.49|3.49|3.49	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.97110|.|.	1.0|.|.	T|T|T	0.80600|0.80600|0.80600	-0.1310|-0.1310|-0.1310	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	10.0878|10.0878|10.0878	0.42428|0.42428|0.42428	0.6746:0.0:0.3254:0.0|0.6746:0.0:0.3254:0.0|0.6746:0.0:0.3254:0.0	.|.|.	584|.|.	Q6ZWH5|.|.	NEK10_HUMAN|.|.	Q|S|A	584|71|41	ENSP00000343847:H584Q|.|.	ENSP00000343847:H584Q|.|.	H|I|S	-|-|-	3|2|1	2|0|0	NEK10|NEK10|NEK10	27304230|27304230|27304230	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.753000|0.753000|0.753000	0.42808|0.42808|0.42808	2.812000|2.812000|2.812000	0.47994|0.47994|0.47994	0.042000|0.042000|0.042000	0.15717|0.15717|0.15717	-0.250000|-0.250000|-0.250000	0.11733|0.11733|0.11733	CAT|ATC|TCC		PASS	0.264	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		9	33	9	33	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38770276	38770276	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:38770276A>T	ENST00000449082.2	-	15	2396	c.2397T>A	c.(2395-2397)ttT>ttA	p.F799L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	799					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F799L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAGCAAAGACAAAGACAATGA	0.532																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2395-2397)TTT>TTA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						140.0	139.0	139.0					3																	38770276		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770276A>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2397T>A	3.37:g.38770276A>T	ENSP00000390600:p.Phe799Leu						p.F799L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2397	-			799			Helical; Name=S5 of repeat II; (Potential).|II.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2397T>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834104	0.91036	.	.	ENSG00000185313	ENST00000449082	D	0.98602	-5.02	5.05	-4.39	0.03611	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97657	0.9232	M	0.85630	2.765	0.41886	D	0.990345	P	0.47604	0.898	P	0.47346	0.544	D	0.95739	0.8781	10	0.87932	D	0	.	15.4409	0.75181	0.2357:0.0:0.7643:0.0	.	799	Q9Y5Y9	SCNAA_HUMAN	L	799	ENSP00000390600:F799L	ENSP00000390600:F799L	F	-	3	2	SCN10A	38745280	1.000000	0.71417	0.561000	0.28357	0.997000	0.91878	1.346000	0.33964	-0.684000	0.05183	0.533000	0.62120	TTT		PASS	0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		54	28	54	28	---	---	---	---
ZNF501	115560	broad.mit.edu	37	3	44776538	44776538	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:44776538G>A	ENST00000396048.2	+	3	1062	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	209					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.E209K(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TGTTGAACATGAAAGGACTCA	0.418																																						uc003cnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)GAA>AAA		zinc finger protein 501							72.0	76.0	74.0					3																	44776538		2129	4272	6401	SO:0001583	missense	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776538G>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.625G>A	3.37:g.44776538G>A	ENSP00000379363:p.Glu209Lys					ZNF501_uc003cnv.1_Missense_Mutation_p.M152I	p.E209K	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	1026	+			209			C2H2-type 7.		B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	c.625G>A	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276009	0.40294	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.24538	1.85	2.94	0.851	0.18989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	N	0.04148	-0.265	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.26985	-1.0087	9	0.59425	D	0.04	.	0.555	0.00669	0.2511:0.1896:0.3653:0.1941	.	209	Q96CX3	ZN501_HUMAN	K	209;153	ENSP00000379363:E209K	ENSP00000330388:E153K	E	+	1	0	ZNF501	44751542	0.000000	0.05858	0.990000	0.47175	0.990000	0.78478	0.447000	0.21710	0.552000	0.29026	0.563000	0.77884	GAA		PASS	0.418	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		19	57	19	57	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46245770	46245770	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:46245770G>T	ENST00000296140.3	-	2	160	c.35C>A	c.(34-36)aCg>aAg	p.T12K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	12					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T12K(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCTGTGGTCGTGTCATAGTC	0.483																																						uc003cph.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(34-36)ACG>AAG		chemokine (C-C motif) receptor 1							45.0	36.0	39.0					3																	46245770		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245770G>T		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.35C>A	3.37:g.46245770G>T	ENSP00000296140:p.Thr12Lys					CCR3_uc003cpg.1_Intron	p.T12K	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	106	-			12			Extracellular (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.35C>A	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	G	8.338	0.828045	0.16749	.	.	ENSG00000163823	ENST00000296140	T	0.36699	1.24	4.91	-4.96	0.03038	.	2.196060	0.02062	N	0.050896	T	0.20007	0.0481	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.17433	0.018	T	0.15492	-1.0435	10	0.16420	T	0.52	.	8.4922	0.33106	0.2414:0.0:0.5312:0.2275	.	12	P32246	CCR1_HUMAN	K	12	ENSP00000296140:T12K	ENSP00000296140:T12K	T	-	2	0	CCR1	46220774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.637000	0.00866	-0.934000	0.03733	-1.307000	0.01316	ACG		PASS	0.483	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		25	11	25	11	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48607181	48607181	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:48607181T>C	ENST00000328333.8	-	100	7641	c.7534A>G	c.(7534-7536)Agt>Ggt	p.S2512G	COL7A1_ENST00000454817.1_Missense_Mutation_p.S2480G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2512	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S2512G(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCCTGCACTCCCAACATCA	0.602																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7534-7536)AGT>GGT		alpha 1 type VII collagen precursor							70.0	69.0	69.0					3																	48607181		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48607181T>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7534A>G	3.37:g.48607181T>C	ENSP00000332371:p.Ser2512Gly						p.S2512G	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	100	7535	-			2512			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7534A>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.243392	0.22796	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	5.36	-6.06	0.02165	.	0.984266	0.08269	N	0.971711	D	0.84392	0.5462	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.69971	-0.5000	10	0.20046	T	0.44	.	5.7775	0.18287	0.1113:0.5325:0.1123:0.2439	.	2512	Q02388	CO7A1_HUMAN	G	2512;2480	ENSP00000332371:S2512G;ENSP00000412569:S2480G	ENSP00000332371:S2512G	S	-	1	0	COL7A1	48582185	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.452000	0.00466	-1.059000	0.03193	-1.223000	0.01593	AGT		PASS	0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		16	51	16	51	---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49055175	49055175	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:49055175C>G	ENST00000341949.4	-	3	595	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	NDUFAF3_ENST00000326912.4_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000440857.1_Missense_Mutation_p.E30Q|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000395462.4_Missense_Mutation_p.E30Q|DALRD3_ENST00000441576.2_Missense_Mutation_p.E197Q|DALRD3_ENST00000313778.5_Missense_Mutation_p.E30Q	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	197					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.E30Q(1)|p.E197Q(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAAGTTCTTCAAGGGCGTGG	0.622																																						uc003cvk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(589-591)GAA>CAA		DALR anticodon binding domain containing 3							70.0	54.0	59.0					3																	49055175		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49055175C>G	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.589G>C	3.37:g.49055175C>G	ENSP00000344989:p.Glu197Gln					DALRD3_uc003cvl.1_Missense_Mutation_p.E197Q|DALRD3_uc003cvm.1_Missense_Mutation_p.E30Q|DALRD3_uc010hko.1_Missense_Mutation_p.E30Q|DALRD3_uc011bca.1_Missense_Mutation_p.E197Q|NDUFAF3_uc003cvn.2_5'Flank	p.E197Q	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	609	-			197					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.589G>C	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429710	0.25726	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.46819	0.86;0.9;0.93;0.88;0.93;0.89	5.06	2.84	0.33178	.	0.357104	0.28521	N	0.015054	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	B;B;B;B	0.33477	0.039;0.413;0.039;0.046	B;B;B;B	0.31495	0.043;0.131;0.043;0.019	T	0.14420	-1.0473	10	0.18276	T	0.48	-6.171	8.9734	0.35921	0.1492:0.7625:0.0:0.0882	.	197;30;197;197	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	Q	197;197;30;30;30;162	ENSP00000410623:E197Q;ENSP00000344989:E197Q;ENSP00000378846:E30Q;ENSP00000403770:E30Q;ENSP00000323265:E30Q;ENSP00000397385:E162Q	ENSP00000323265:E30Q	E	-	1	0	DALRD3	49030179	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.123000	0.15708	1.074000	0.40909	0.651000	0.88453	GAA		PASS	0.622	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		22	38	22	38	---	---	---	---
HYAL3	8372	broad.mit.edu	37	3	50330709	50330709	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:50330709C>G	ENST00000336307.1	-	4	1494	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	IFRD2_ENST00000429673.2_5'Flank|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.E159Q|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.E378Q|HYAL3_ENST00000450982.1_Missense_Mutation_p.E378Q|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000513170.1_Missense_Mutation_p.E129Q	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	408					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.E408Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCCTGGGCTCCTGGCAGGTG	0.587																																						uc003czd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)GAG>CAG		hyaluronoglucosaminidase 3 precursor							40.0	50.0	47.0					3																	50330709		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50330709C>G	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.1222G>C	3.37:g.50330709C>G	ENSP00000337425:p.Glu408Gln					HYAL3_uc003czc.1_Missense_Mutation_p.E378Q|HYAL3_uc003cze.1_Missense_Mutation_p.E159Q|HYAL3_uc003czf.1_Missense_Mutation_p.E129Q|HYAL3_uc003czg.1_Missense_Mutation_p.E378Q|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	p.E408Q	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	1495	-			408					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.1222G>C	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838803	0.16891	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	5.44	3.48	0.39840	.	1.783240	0.04280	N	0.343720	D	0.91932	0.7445	L	0.43554	1.36	0.26770	N	0.969826	B;B;B;B	0.19817	0.038;0.017;0.039;0.038	B;B;B;B	0.21917	0.025;0.015;0.016;0.037	T	0.79848	-0.1630	10	0.35671	T	0.21	-4.8735	7.9429	0.29969	0.0:0.8006:0.0:0.1994	.	129;159;408;378	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	Q	378;408;159;129;378	ENSP00000351946:E378Q;ENSP00000337425:E408Q;ENSP00000401092:E159Q;ENSP00000424633:E129Q;ENSP00000391922:E378Q	ENSP00000337425:E408Q	E	-	1	0	HYAL3	50305713	0.187000	0.23238	0.990000	0.47175	0.945000	0.59286	0.787000	0.26858	0.738000	0.32606	0.655000	0.94253	GAG		PASS	0.587	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		25	78	25	78	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52356682	52356682	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:52356682G>T	ENST00000420323.2	+	2	485	c.224G>T	c.(223-225)gGg>gTg	p.G75V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	75	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G75V(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGACTTGGGGCAGCCACGG	0.582																																						uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(223-225)GGG>GTG		dynein, axonemal, heavy chain 1							38.0	42.0	41.0					3																	52356682		1928	4106	6034	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52356682G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.224G>T	3.37:g.52356682G>T	ENSP00000401514:p.Gly75Val					DNAH1_uc003ddt.1_Missense_Mutation_p.G75V	p.G75V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	2	485	+			75			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.224G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678509	0.29783	.	.	ENSG00000114841	ENST00000420323	T	0.32753	1.44	3.37	1.58	0.23477	.	0.649097	0.12807	N	0.437492	T	0.40546	0.1121	L	0.44542	1.39	0.19945	N	0.999944	B;D	0.89917	0.041;1.0	B;D	0.87578	0.021;0.998	T	0.13872	-1.0493	10	0.56958	D	0.05	.	3.824	0.08846	0.2286:0.2028:0.5686:0.0	.	75;75	C9JXH6;Q9P2D7-3	.;.	V	75	ENSP00000401514:G75V	ENSP00000401514:G75V	G	+	2	0	DNAH1	52331722	0.807000	0.29009	0.121000	0.21740	0.543000	0.35085	0.367000	0.20382	0.457000	0.26962	-0.320000	0.08662	GGG		PASS	0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	12	17	12	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57488140	57488140	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:57488140G>A	ENST00000351747.2	-	10	1333	c.1153C>T	c.(1153-1155)Cct>Tct	p.P385S	DNAH12_ENST00000311202.6_Missense_Mutation_p.P385S|DNAH12_ENST00000389536.4_Missense_Mutation_p.P385S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	385	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.P385S(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ACGTGTTCAGGAAGTTCTGTG	0.388																																						uc003dit.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1153-1155)CCT>TCT		dynein heavy chain domain 2 isoform 1							232.0	205.0	214.0					3																	57488140		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488140G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1153C>T	3.37:g.57488140G>A	ENSP00000295937:p.Pro385Ser					DNAH12_uc003diu.2_Missense_Mutation_p.P385S	p.P385S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			10	1334	-			385			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.1153C>T		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268786	0.23136	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20463	2.22;2.07;3.63;3.02	5.21	5.21	0.72293	.	0.152813	0.44285	D	0.000478	T	0.29126	0.0724	M	0.71581	2.175	0.80722	D	1	P;B	0.44006	0.824;0.051	B;B	0.42112	0.376;0.018	T	0.04053	-1.0981	10	0.28530	T	0.3	.	17.3029	0.87187	0.0:0.0:1.0:0.0	.	385;385	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	S	385	ENSP00000295937:P385S;ENSP00000418137:P385S;ENSP00000374187:P385S;ENSP00000312554:P385S	ENSP00000312554:P385S	P	-	1	0	DNAH12	57463180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	2.581000	0.87130	0.655000	0.94253	CCT		PASS	0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		72	50	72	50	---	---	---	---
PXK	54899	broad.mit.edu	37	3	58377548	58377548	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:58377548C>G	ENST00000356151.2	+	7	698	c.589C>G	c.(589-591)Cta>Gta	p.L197V	PXK_ENST00000302779.5_Missense_Mutation_p.L180V|PXK_ENST00000479241.1_Missense_Mutation_p.L180V|PXK_ENST00000383715.4_Missense_Mutation_p.L180V|PXK_ENST00000463280.1_Missense_Mutation_p.L164V|PXK_ENST00000536660.1_Missense_Mutation_p.L60V|PXK_ENST00000484288.1_Missense_Mutation_p.L197V|PXK_ENST00000383716.3_Missense_Mutation_p.L164V	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.L197V(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTTTCAGTGTCTAATCAAACT	0.388																																						uc003djz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(589-591)CTA>GTA		PX domain containing serine/threonine kinase							193.0	182.0	186.0					3																	58377548		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58377548C>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.589C>G	3.37:g.58377548C>G	ENSP00000348472:p.Leu197Val					PXK_uc003djx.1_Missense_Mutation_p.L197V|PXK_uc003djy.1_Missense_Mutation_p.L180V|PXK_uc003dka.1_Missense_Mutation_p.L197V|PXK_uc003dkb.1_Missense_Mutation_p.L114V|PXK_uc003dkc.1_Missense_Mutation_p.L180V|PXK_uc011bfe.1_Missense_Mutation_p.L164V|PXK_uc010hnj.1_Missense_Mutation_p.L164V|PXK_uc003dkd.1_Missense_Mutation_p.L60V|PXK_uc010hnk.1_Intron	p.L197V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	688	+			197			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.589C>G	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	C	3.059	-0.193650	0.06259	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T;T;T;T;T;T;T;T	0.32515	2.29;2.29;2.31;1.51;1.48;1.48;1.45;2.3	5.66	1.43	0.22495	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.121081	0.52532	D	0.000064	T	0.11665	0.0284	N	0.16307	0.4	0.28003	N	0.935204	B;B;B;B;B;B	0.16166	0.016;0.003;0.005;0.011;0.007;0.012	B;B;B;B;B;B	0.14023	0.01;0.005;0.004;0.009;0.004;0.006	T	0.28933	-1.0028	10	0.02654	T	1	-9.5353	3.3254	0.07064	0.1048:0.4623:0.2683:0.1646	.	164;164;164;197;180;197	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	V	197;180;164;164;180;197;180;60;60	ENSP00000348472:L197V;ENSP00000305045:L180V;ENSP00000373222:L164V;ENSP00000417903:L164V;ENSP00000373221:L180V;ENSP00000417915:L197V;ENSP00000419049:L180V;ENSP00000438356:L60V	ENSP00000305045:L180V	L	+	1	2	PXK	58352588	0.148000	0.22702	1.000000	0.80357	0.996000	0.88848	-0.098000	0.11024	0.750000	0.32877	0.563000	0.77884	CTA		PASS	0.388	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		25	132	25	132	---	---	---	---
C3orf67	200844	broad.mit.edu	37	3	58849464	58849464	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:58849464C>T	ENST00000482387.1	-	8	1134	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Silent_p.Q346Q|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Silent_p.Q253Q			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	346								p.Q346Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGGAACACTCTGGGATTCCT	0.493																																						uc003dkt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1036-1038)CAG>CAA		hypothetical protein LOC200844							136.0	134.0	135.0					3																	58849464		2203	4300	6503	SO:0001819	synonymous_variant	200844							g.chr3:58849464C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1038G>A	3.37:g.58849464C>T						C3orf67_uc003dks.1_Silent_p.Q161Q|uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.Q161Q|C3orf67_uc003dkw.2_Silent_p.Q241Q	p.Q346Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	12	1447	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	346					B9EKV6|Q6ZV69	Silent	SNP	ENST00000482387.1	37	c.1038G>A																																																																																					PASS	0.493	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		21	107	21	107	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73453457	73453457	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:73453457C>G	ENST00000263666.4	-	4	1122	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	PDZRN3_ENST00000462146.2_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L53F|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L58F|PDZRN3_ENST00000466780.1_5'UTR|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	336	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L336F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGTTCTTCTCAACACCTGCA	0.512																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1006-1008)TTG>TTC		PDZ domain containing ring finger 3							189.0	155.0	167.0					3																	73453457		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453457C>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1008G>C	3.37:g.73453457C>G	ENSP00000263666:p.Leu336Phe					PDZRN3_uc011bgh.1_5'UTR|PDZRN3_uc010hoe.1_Missense_Mutation_p.L34F|PDZRN3_uc011bgf.1_Missense_Mutation_p.L53F|PDZRN3_uc011bgg.1_Missense_Mutation_p.L56F	p.L336F	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	4	1104	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	336			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1008G>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953632	0.53293	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T	0.52754	0.83;0.65;0.83;0.83	6.07	1.7	0.24286	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000002	T	0.65270	0.2675	M	0.79123	2.44	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.997;0.987;0.999	T	0.65903	-0.6055	10	0.59425	D	0.04	.	10.6444	0.45610	0.0:0.65:0.0:0.35	.	58;53;53;336	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	F	336;58;53;336;34	ENSP00000263666:L336F;ENSP00000442026:L58F;ENSP00000418624:L53F;ENSP00000419250:L34F	ENSP00000263666:L336F	L	-	3	2	PDZRN3	73536147	0.377000	0.25106	0.790000	0.31976	0.562000	0.35680	-0.271000	0.08572	0.413000	0.25759	0.655000	0.94253	TTG		PASS	0.512	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		34	78	34	78	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89390085	89390085	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:89390085C>T	ENST00000336596.2	+	4	1059	c.834C>T	c.(832-834)taC>taT	p.Y278Y	EPHA3_ENST00000494014.1_Silent_p.Y278Y|EPHA3_ENST00000452448.2_Silent_p.Y278Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	278	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Y278Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTTTCTACAAGGCATTGG	0.363										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - coding silent(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(832-834)TAC>TAT		ephrin receptor EphA3 isoform a precursor							148.0	144.0	145.0					3																	89390085		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390085C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.834C>T	3.37:g.89390085C>T		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.Y278Y|EPHA3_uc010hon.1_RNA	p.Y278Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1059	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	278			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.834C>T	CCDS2922.1																																																																																				PASS	0.363	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		53	80	53	80	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93615477	93615477	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:93615477G>A	ENST00000394236.3	-	9	1224	c.908C>T	c.(907-909)gCg>gTg	p.A303V	PROS1_ENST00000407433.1_Missense_Mutation_p.A172V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	303	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.A303V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAACTGCTCCGCCAAGTAAAG	0.358																																						uc003drb.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(907-909)GCG>GTG		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						77.0	86.0	83.0					3																	93615477		2201	4300	6501	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615477G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.908C>T	3.37:g.93615477G>A	ENSP00000377783:p.Ala303Val					PROS1_uc010hoo.2_Missense_Mutation_p.A172V|PROS1_uc003dqz.3_Missense_Mutation_p.A172V	p.A303V	NM_000313	NP_000304	P07225	PROS_HUMAN			9	1249	-			303			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.908C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471593	0.63737	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78924	-1.22;-1.22	4.04	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.062767	0.64402	D	0.000005	T	0.81978	0.4937	M	0.78223	2.4	0.39020	D	0.959733	D	0.61080	0.989	P	0.49451	0.611	D	0.86716	0.1939	10	0.72032	D	0.01	.	14.5297	0.67915	0.0:0.0:1.0:0.0	.	303	P07225	PROS_HUMAN	V	303;172	ENSP00000377783:A303V;ENSP00000385794:A172V	ENSP00000377783:A303V	A	-	2	0	PROS1	95098167	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.168000	0.64978	2.097000	0.63578	0.305000	0.20034	GCG		PASS	0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		47	202	47	202	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97194254	97194254	+	Silent	SNP	C	C	A	rs183002871	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:97194254C>A	ENST00000514100.1	+	5	371	c.129C>A	c.(127-129)ggC>ggA	p.G43G	EPHA6_ENST00000502694.1_Silent_p.G43G|EPHA6_ENST00000442602.2_Silent_p.G17G|EPHA6_ENST00000389672.5_Silent_p.G651G	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	557	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G651G(1)|p.G557G(1)|p.G43G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCGCTGTTGGCGGATTCACTC	0.428																																						uc010how.1																			3	Substitution - coding silent(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1951-1953)GGC>GGA		EPH receptor A6 isoform a							83.0	85.0	84.0					3																	97194254		1921	4128	6049	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97194254C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.129C>A	3.37:g.97194254C>A						EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Silent_p.G17G|EPHA6_uc003drs.3_Silent_p.G43G|EPHA6_uc003drr.3_Silent_p.G43G|EPHA6_uc003drt.2_Silent_p.G43G|EPHA6_uc010hox.1_RNA	p.G651G	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			8	1996	+			556			Helical; (Potential).		D6RAL5	Silent	SNP	ENST00000514100.1	37	c.1953C>A																																																																																					PASS	0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		7	21	7	21	---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100065092	100065092	+	Silent	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:100065092A>C	ENST00000394140.4	+	6	589	c.498A>C	c.(496-498)gcA>gcC	p.A166A		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	166	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.A166A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAATCTACGCACAGAGAGGTG	0.483																																						uc003dtv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(496-498)GCA>GCC		nitrilase family, member 2							219.0	172.0	188.0					3																	100065092		2203	4300	6503	SO:0001819	synonymous_variant	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100065092A>C	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.498A>C	3.37:g.100065092A>C						NIT2_uc011bha.1_Missense_Mutation_p.H135P	p.A166A	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			6	572	+			166			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Silent	SNP	ENST00000394140.4	37	c.498A>C	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	A	9.198	1.027806	0.19512	.	.	ENSG00000114021	ENST00000497785	.	.	.	5.49	-5.58	0.02512	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.44574	-0.9319	4	.	.	.	-0.6973	3.8015	0.08760	0.2969:0.4041:0.2114:0.0875	.	.	.	.	P	260	.	.	T	+	1	0	NIT2	101547782	0.000000	0.05858	0.866000	0.34008	0.894000	0.52154	-1.251000	0.02882	-0.436000	0.07254	0.533000	0.62120	ACA		PASS	0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		19	26	19	26	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105264115	105264115	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:105264115G>T	ENST00000306107.5	+	9	1540	c.1040G>T	c.(1039-1041)gGt>gTt	p.G347V	ALCAM_ENST00000486979.2_Missense_Mutation_p.G296V|ALCAM_ENST00000472644.2_Missense_Mutation_p.G347V|ALCAM_ENST00000389927.4_Missense_Mutation_p.G69V|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	347	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.G347V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGACAGATTGGTGATGCCCTA	0.408																																						uc003dvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1039-1041)GGT>GTT		activated leukocyte cell adhesion molecule							177.0	166.0	170.0					3																	105264115		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105264115G>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1040G>T	3.37:g.105264115G>T	ENSP00000305988:p.Gly347Val					ALCAM_uc003dvw.1_Missense_Mutation_p.G347V|ALCAM_uc003dvy.2_Missense_Mutation_p.G347V|ALCAM_uc011bhh.1_3'UTR|ALCAM_uc010hpp.2_Missense_Mutation_p.G69V|ALCAM_uc003dvz.2_5'UTR	p.G347V	NM_001627	NP_001618	Q13740	CD166_HUMAN			9	1580	+			347			Extracellular (Potential).|Ig-like C2-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1040G>T	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.360102|4.360102	0.82353|0.82353	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	D;D;D;D|.	0.84730|.	-1.89;-1.89;-1.89;-1.89|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82747|0.82747	0.5104|0.5104	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.84428|0.84428	0.0575|0.0575	10|5	0.87932|.	D|.	0|.	-12.8572|-12.8572	19.0181|19.0181	0.92902|0.92902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	69;347;347|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	V|C	347;347;296;69|107	ENSP00000305988:G347V;ENSP00000419236:G347V;ENSP00000418213:G296V;ENSP00000374577:G69V|.	ENSP00000305988:G347V|.	G|W	+|+	2|3	0|0	ALCAM|ALCAM	106746805|106746805	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.987000|0.987000	0.75469|0.75469	6.417000|6.417000	0.73337|0.73337	2.559000|2.559000	0.86315|0.86315	0.563000|0.563000	0.77884|0.77884	GGT|TGG		PASS	0.408	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		36	69	36	69	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108406926	108406926	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:108406926G>A	ENST00000361582.3	+	29	3483	c.3253G>A	c.(3253-3255)Gac>Aac	p.D1085N	DZIP3_ENST00000463306.1_Missense_Mutation_p.D1085N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1085					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D1085N(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCAGTTTATTGACCCCAAAAA	0.348																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3253-3255)GAC>AAC		DAZ interacting protein 3, zinc finger							84.0	84.0	84.0					3																	108406926		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108406926G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3253G>A	3.37:g.108406926G>A	ENSP00000355028:p.Asp1085Asn					DZIP3_uc003dxf.1_Missense_Mutation_p.D1085N|DZIP3_uc011bhm.1_Missense_Mutation_p.D536N	p.D1085N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			29	3675	+			1085					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.3253G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003616	0.54254	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.18960	2.18;2.18	5.21	5.21	0.72293	.	0.490179	0.18939	N	0.126993	T	0.12603	0.0306	N	0.14661	0.345	0.28858	N	0.89566	B;B	0.31318	0.319;0.201	B;B	0.26614	0.071;0.023	T	0.10245	-1.0638	10	0.25751	T	0.34	-1.5143	14.1315	0.65257	0.0:0.0:1.0:0.0	.	703;1085	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	1085	ENSP00000355028:D1085N;ENSP00000419981:D1085N	ENSP00000355028:D1085N	D	+	1	0	DZIP3	109889616	1.000000	0.71417	0.994000	0.49952	0.808000	0.45660	2.765000	0.47621	2.723000	0.93209	0.655000	0.94253	GAC		PASS	0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		20	81	20	81	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108788596	108788596	+	Missense_Mutation	SNP	G	G	T	rs148630097		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:108788596G>T	ENST00000483760.1	-	9	741	c.698C>A	c.(697-699)gCg>gAg	p.A233E	MORC1_ENST00000232603.5_Missense_Mutation_p.A233E					MORC family CW-type zinc finger 1									p.A233V(2)|p.A233E(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGACCACCTCGCTGGGAAACT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19698	0.0		0.001	False		,,,				2504	0.0					uc003dxl.2																			3	Substitution - Missense(3)	p.A233V(2)	breast(2)|lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(697-699)GCG>GAG		MORC family CW-type zinc finger 1		G	GLU/ALA	2,4404	6.2+/-15.9	0,2,2201	80.0	78.0	79.0		698	3.8	1.0	3	dbSNP_134	79	0,8600		0,0,4300	yes	missense	MORC1	NM_014429.3	107	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign	233/985	108788596	2,13004	2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108788596G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.698C>A	3.37:g.108788596G>T	ENSP00000417282:p.Ala233Glu					MORC1_uc011bhn.1_Missense_Mutation_p.A233E	p.A233E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			9	785	-			233						Missense_Mutation	SNP	ENST00000483760.1	37	c.698C>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.017	-1.495995	0.01009	4.54E-4	0.0	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.04654	3.58;3.6	4.93	3.76	0.43208	ATPase-like, ATP-binding domain (1);	0.135912	0.34046	N	0.004304	T	0.00906	0.0030	N	0.00060	-2.34	0.29491	N	0.855615	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39078	-0.9631	10	0.02654	T	1	-14.9457	10.3793	0.44101	0.0:0.0:0.1684:0.8316	.	233;233	E7ERX1;Q86VD1	.;MORC1_HUMAN	E	233	ENSP00000232603:A233E;ENSP00000417282:A233E	ENSP00000232603:A233E	A	-	2	0	MORC1	110271286	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	3.149000	0.50655	1.003000	0.39130	-0.266000	0.10368	GCG		PASS	0.348	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			23	61	23	61	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109023453	109023453	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:109023453C>A	ENST00000478945.1	-	7	969	c.723G>T	c.(721-723)ctG>ctT	p.L241L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	241					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.L241L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGAAACTGCAGGCGTACCC	0.507																																						uc003dxo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(721-723)CTG>CTT		developmental pluripotency associated 2							79.0	73.0	75.0					3																	109023453		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109023453C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.723G>T	3.37:g.109023453C>A							p.L241L	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			7	970	-			241					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.723G>T	CCDS2956.1																																																																																				PASS	0.507	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		33	58	33	58	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119133799	119133799	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:119133799G>C	ENST00000264245.4	+	12	3555	c.3023G>C	c.(3022-3024)aGa>aCa	p.R1008T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1008					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.R1008T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGTCCTTCAGAGAGTTCTCT	0.552																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3022-3024)AGA>ACA		Cdc42 GTPase-activating protein							46.0	51.0	49.0					3																	119133799		1918	4134	6052	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133799G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3023G>C	3.37:g.119133799G>C	ENSP00000264245:p.Arg1008Thr						p.R1008T	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3555	+			1008					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3023G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651834	0.29336	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06142	3.34	5.05	0.886	0.19194	.	0.773503	0.11873	N	0.521268	T	0.04634	0.0126	L	0.27053	0.805	0.27508	N	0.951773	B	0.24186	0.099	B	0.22601	0.04	T	0.35943	-0.9768	10	0.59425	D	0.04	.	4.9802	0.14160	0.3554:0.0:0.503:0.1416	.	1008	Q2M1Z3	RHG31_HUMAN	T	1008	ENSP00000264245:R1008T	ENSP00000264245:R1008T	R	+	2	0	ARHGAP31	120616489	0.998000	0.40836	0.947000	0.38551	0.987000	0.75469	1.951000	0.40333	0.286000	0.22352	0.561000	0.74099	AGA		PASS	0.552	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			18	48	18	48	---	---	---	---
POGLUT1	56983	broad.mit.edu	37	3	119211167	119211167	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:119211167A>T	ENST00000295588.4	+	11	1145	c.1061A>T	c.(1060-1062)gAc>gTc	p.D354V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	354					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)	p.D354V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CAGATGGATGACATCACCTGT	0.358																																						uc003ecm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)GAC>GTC		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							120.0	118.0	119.0					3																	119211167		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119211167A>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.1061A>T	3.37:g.119211167A>T	ENSP00000295588:p.Asp354Val					KTELC1_uc011bja.1_Missense_Mutation_p.D195V	p.D354V	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	11	1145	+			354					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.1061A>T	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300800	0.81136	.	.	ENSG00000163389	ENST00000295588	T	0.23754	1.89	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63088	-0.6715	10	0.23302	T	0.38	-20.2509	12.8526	0.57867	1.0:0.0:0.0:0.0	.	354	Q8NBL1	PGLT1_HUMAN	V	354	ENSP00000295588:D354V	ENSP00000295588:D354V	D	+	2	0	POGLUT1	120693857	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.107000	0.89557	2.288000	0.76882	0.533000	0.62120	GAC		PASS	0.358	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		61	80	61	80	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119466000	119466000	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:119466000A>G	ENST00000273390.5	+	15	2018	c.1941A>G	c.(1939-1941)ctA>ctG	p.L647L	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	483						mitochondrion (GO:0005739)		p.L647L(1)									GCTCCTACCTAGAAGACATAA	0.368																																						uc003ede.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1939-1941)CTA>CTG		AAT1-alpha							109.0	105.0	106.0					3																	119466000		2203	4300	6503	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119466000A>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1941A>G	3.37:g.119466000A>G						C3orf15_uc010hqz.2_Silent_p.L585L|C3orf15_uc011bjd.1_Silent_p.L521L|C3orf15_uc011bje.1_Silent_p.L627L|C3orf15_uc003edg.3_5'Flank	p.L647L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	15	2018	+			483					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1941A>G	CCDS2994.1																																																																																				PASS	0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		27	91	27	91	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123046520	123046520	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:123046520T>A	ENST00000462833.1	-	7	3104	c.1892A>T	c.(1891-1893)tAc>tTc	p.Y631F	ADCY5_ENST00000309879.5_Missense_Mutation_p.Y281F|ADCY5_ENST00000491190.1_Missense_Mutation_p.Y264F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	631					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.Y631F(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCCTTGAGGTAGGCGTTGCG	0.642																																						uc003egh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1891-1893)TAC>TTC		adenylate cyclase 5							91.0	72.0	78.0					3																	123046520		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046520T>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1892A>T	3.37:g.123046520T>A	ENSP00000419361:p.Tyr631Phe					ADCY5_uc003egg.1_Missense_Mutation_p.Y264F|ADCY5_uc003egi.1_Missense_Mutation_p.Y190F	p.Y631F	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	7	1892	-			631			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1892A>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896771	0.91962	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.64402	D	0.000004	D	0.87593	0.6216	L	0.33792	1.035	0.80722	D	1	P;D	0.67145	0.954;0.996	P;D	0.70935	0.797;0.971	D	0.86091	0.1550	10	0.29301	T	0.29	.	15.6491	0.77076	0.0:0.0:0.0:1.0	.	631;264	O95622;B3KWA8	ADCY5_HUMAN;.	F	631;264;281;190	ENSP00000419361:Y631F;ENSP00000418537:Y264F;ENSP00000308685:Y281F;ENSP00000420082:Y190F	ENSP00000308685:Y281F	Y	-	2	0	ADCY5	124529210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TAC		PASS	0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		12	50	12	50	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379811	127379811	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:127379811G>T	ENST00000342480.6	+	3	979	c.940G>T	c.(940-942)Gct>Tct	p.A314S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	314					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.A314S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCAAACCACAGCTCCCAGTGG	0.612																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(940-942)GCT>TCT		podocalyxin-like 2 precursor							66.0	56.0	60.0					3																	127379811		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379811G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.940G>T	3.37:g.127379811G>T	ENSP00000345359:p.Ala314Ser						p.A314S	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	964	+			314			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.940G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	4.741	0.137868	0.09032	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.22743	1.94	4.53	1.36	0.22044	.	0.803472	0.11244	N	0.584371	T	0.10809	0.0264	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	10	0.19590	T	0.45	-1.5748	7.5228	0.27637	0.0:0.1672:0.513:0.3198	.	314	Q9NZ53	PDXL2_HUMAN	S	314	ENSP00000345359:A314S	ENSP00000304498:A314S	A	+	1	0	PODXL2	128862501	0.002000	0.14202	0.002000	0.10522	0.011000	0.07611	1.206000	0.32321	0.418000	0.25898	-0.448000	0.05591	GCT		PASS	0.612	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		28	87	28	87	---	---	---	---
TF	7018	broad.mit.edu	37	3	133494302	133494302	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:133494302G>A	ENST00000402696.3	+	15	2198	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TF_ENST00000264998.3_Silent_p.K444K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	571	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.K571K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CATGGGCTAAGAATCTGAATG	0.527																																						uc003epu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1711-1713)AAG>AAA		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						129.0	131.0	130.0					3																	133494302		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133494302G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1713G>A	3.37:g.133494302G>A						TF_uc011blt.1_Silent_p.K444K|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.K571K	p.K571K	NM_001063	NP_001054	P02787	TRFE_HUMAN			20	3441	+			571			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1713G>A	CCDS3080.1																																																																																				PASS	0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		35	115	35	115	---	---	---	---
ANAPC13	25847	broad.mit.edu	37	3	134197492	134197492	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:134197492C>T	ENST00000510994.1	-	3	895	c.165G>A	c.(163-165)atG>atA	p.M55I	ANAPC13_ENST00000354910.5_Missense_Mutation_p.M55I|ANAPC13_ENST00000514612.1_Missense_Mutation_p.M55I|ANAPC13_ENST00000511751.1_Missense_Mutation_p.M55I	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	55					mitotic nuclear division (GO:0007067)|protein K11-linked ubiquitination (GO:0070979)	anaphase-promoting complex (GO:0005680)		p.M55I(1)		lung(1)|skin(1)	2						CTGTCCACTTCATTTCTTGTT	0.418																																						uc003eqi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(163-165)ATG>ATA		anaphase promoting complex subunit 13							230.0	188.0	202.0					3																	134197492		2203	4300	6503	SO:0001583	missense	25847				cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex		g.chr3:134197492C>T	AF086169	CCDS3085.1	3q22.1	2011-06-15				ENSG00000129055		"""Anaphase promoting complex subunits"""	24540	protein-coding gene	gene with protein product		614484				15060174	Standard	NM_015391		Approved	SWM1, APC13, DKFZP566D193	uc003eqi.3	Q9BS18		ENST00000510994.1:c.165G>A	3.37:g.134197492C>T	ENSP00000421842:p.Met55Ile					ANAPC13_uc003eqj.2_RNA|ANAPC13_uc003eqk.3_RNA	p.M55I	NM_015391	NP_056206	Q9BS18	APC13_HUMAN			3	262	-			55					Q9Y3V0	Missense_Mutation	SNP	ENST00000510994.1	37	c.165G>A	CCDS3085.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684853	0.68157	.	.	ENSG00000129055	ENST00000510994;ENST00000354910;ENST00000514612;ENST00000511751	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	U	0.000000	T	0.57272	0.2042	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50575	-0.8812	8	0.42905	T	0.14	-20.6546	19.3671	0.94468	0.0:1.0:0.0:0.0	.	55	Q9BS18	APC13_HUMAN	I	55	.	ENSP00000346987:M55I	M	-	3	0	ANAPC13	135680182	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.643000	0.83403	2.663000	0.90544	0.591000	0.81541	ATG		PASS	0.418	ANAPC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357412.1	NM_015391		31	105	31	105	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134873025	134873025	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:134873025C>G	ENST00000398015.3	+	6	1699	c.1329C>G	c.(1327-1329)gtC>gtG	p.V443V	EPHB1_ENST00000493838.1_Silent_p.V4V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	443	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.V443V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCACCAAGTCAGTGCCACTA	0.537																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1327-1329)GTC>GTG		ephrin receptor EphB1 precursor							193.0	205.0	201.0					3																	134873025		2182	4295	6477	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873025C>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1329C>G	3.37:g.134873025C>G						EPHB1_uc003equ.2_Silent_p.V4V	p.V443V	NM_004441	NP_004432	P54762	EPHB1_HUMAN			6	1549	+			443			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1329C>G	CCDS46921.1																																																																																				PASS	0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		39	240	39	240	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137483679	137483679	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:137483679G>T	ENST00000306087.1	+	1	101	c.53G>T	c.(52-54)tGg>tTg	p.W18L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	18					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.W18L(1)		large_intestine(2)|lung(12)	14						TTCATGGTATGGTCCCGGGGC	0.602																																						uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(52-54)TGG>TTG		SRY-box 14							60.0	64.0	62.0					3																	137483679		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483679G>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.53G>T	3.37:g.137483679G>T	ENSP00000305343:p.Trp18Leu						p.W18L	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	101	+			18			HMG box.		B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.53G>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319272	0.81469	.	.	ENSG00000168875	ENST00000306087	D	0.98249	-4.82	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98429	1.0581	10	0.87932	D	0	.	18.2699	0.90064	0.0:0.0:1.0:0.0	.	18	O95416	SOX14_HUMAN	L	18	ENSP00000305343:W18L	ENSP00000305343:W18L	W	+	2	0	SOX14	138966369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.653000	0.90120	0.511000	0.50034	TGG		PASS	0.602	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		19	45	19	45	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140277540	140277540	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:140277540C>A	ENST00000458420.3	+	12	2072	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	628					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.L628I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGTGATGGTCCTCCAGGCCAT	0.557										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1882-1884)CTC>ATC		calsyntenin 2 precursor							93.0	87.0	89.0					3																	140277540		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277540C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1882C>A	3.37:g.140277540C>A	ENSP00000402460:p.Leu628Ile	HNSCC(16;0.037)					p.L628I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			12	2072	+			628			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1882C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039899	0.75732	.	.	ENSG00000158258	ENST00000458420	T	0.64618	-0.11	5.27	3.46	0.39613	.	0.069151	0.64402	D	0.000014	T	0.56920	0.2018	M	0.81942	2.565	0.41042	D	0.98523	B	0.30406	0.278	B	0.24155	0.051	T	0.53041	-0.8494	9	.	.	.	-23.8611	6.0158	0.19603	0.0:0.6729:0.1552:0.1719	.	628	Q9H4D0	CSTN2_HUMAN	I	628	ENSP00000402460:L628I	.	L	+	1	0	CLSTN2	141760230	0.967000	0.33354	0.993000	0.49108	0.989000	0.77384	2.083000	0.41615	0.589000	0.29677	0.650000	0.86243	CTC		PASS	0.557	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		26	86	26	86	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141164623	141164623	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:141164623C>A	ENST00000514251.1	+	4	3672	c.3393C>A	c.(3391-3393)ccC>ccA	p.P1131P	ZBTB38_ENST00000321464.5_Silent_p.P1132P|ZBTB38_ENST00000441582.2_Silent_p.P1131P					zinc finger and BTB domain containing 38									p.P1131P(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCCAGTGCCCCAAAATTTGCA	0.463																																						uc003etw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3391-3393)CCC>CCA		zinc finger and BTB domain containing 38							99.0	99.0	99.0					3																	141164623		1900	4123	6023	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164623C>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3393C>A	3.37:g.141164623C>A						ZBTB38_uc010hun.2_Silent_p.P1128P|ZBTB38_uc010huo.2_Silent_p.P1131P|ZBTB38_uc003ety.2_Silent_p.P1131P|ZBTB38_uc010hup.2_Silent_p.P1132P	p.P1131P	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	4375	+			1131			C2H2-type 10.			Silent	SNP	ENST00000514251.1	37	c.3393C>A	CCDS43157.1																																																																																				PASS	0.463	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			4	147	4	147	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681231	142681231	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:142681231G>C	ENST00000340634.3	-	1	947	c.948C>G	c.(946-948)atC>atG	p.I316M	RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	316						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I316M(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GGAAGGTGAAGATGTGGAAGA	0.607																																						uc003evg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)ATC>ATG		progestin and adipoQ receptor family member IX							74.0	80.0	78.0					3																	142681231		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681231G>C	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.948C>G	3.37:g.142681231G>C	ENSP00000341564:p.Ile316Met					PAQR9_uc003evf.1_RNA	p.I316M	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	948	-			316			Helical; (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.948C>G	CCDS3128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.246650|3.246650	0.59103|0.59103	.|.	.|.	ENSG00000188582|ENSG00000188582	ENST00000340634|ENST00000492509	T|.	0.31510|.	1.49|.	5.62|5.62	3.81|3.81	0.43845|0.43845	.|.	0.208574|.	0.41194|.	D|.	0.000924|.	T|T	0.62563|0.62563	0.2438|0.2438	M|M	0.68952|0.68952	2.095|2.095	0.36968|0.36968	D|D	0.893696|0.893696	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.64943|0.64943	-0.6288|-0.6288	10|5	0.52906|.	T|.	0.07|.	-37.6475|-37.6475	8.474|8.474	0.33001|0.33001	0.0697:0.0:0.6419:0.2883|0.0697:0.0:0.6419:0.2883	.|.	316|.	Q6ZVX9|.	PAQR9_HUMAN|.	M|V	316|57	ENSP00000341564:I316M|.	ENSP00000341564:I316M|.	I|L	-|-	3|1	3|0	PAQR9|PAQR9	144163921|144163921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.522000|2.522000	0.45572|0.45572	0.709000|0.709000	0.31976|0.31976	0.650000|0.650000	0.86243|0.86243	ATC|CTT		PASS	0.607	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		25	93	25	93	---	---	---	---
PLSCR2	57047	broad.mit.edu	37	3	146173175	146173175	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:146173175C>A	ENST00000497985.1	-	6	830	c.391G>T	c.(391-393)Gca>Tca	p.A131S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A58S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	131					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.A58S(1)|p.A131S(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GTATCTTCTGCTGCAAAATAA	0.363																																						uc003evv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(172-174)GCA>TCA		phospholipid scramblase 2							106.0	111.0	109.0					3																	146173175		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173175C>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.391G>T	3.37:g.146173175C>A	ENSP00000420132:p.Ala131Ser					PLSCR2_uc003evw.1_Missense_Mutation_p.A127S	p.A58S	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			5	505	-			58			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.172G>T	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	12.53	1.966185	0.34659	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.23348	1.91;1.91;1.91	3.1	-0.863	0.10669	.	1.785890	0.04327	U	0.351705	T	0.34308	0.0893	M	0.67953	2.075	0.09310	N	1	P;P	0.38473	0.633;0.629	P;B	0.46208	0.507;0.345	T	0.38887	-0.9640	10	0.12430	T	0.62	.	9.415	0.38517	0.0:0.7193:0.0:0.2807	.	151;58	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	58;150;131;58	ENSP00000338707:A58S;ENSP00000420132:A131S;ENSP00000418444:A58S	ENSP00000338707:A58S	A	-	1	0	PLSCR2	147655865	0.000000	0.05858	0.000000	0.03702	0.650000	0.38633	0.269000	0.18589	-0.223000	0.09943	0.557000	0.71058	GCA		PASS	0.363	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		41	143	41	143	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147127995	147127995	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:147127995C>A	ENST00000282928.4	+	1	825	c.96C>A	c.(94-96)gaC>gaA	p.D32E		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	32					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.D32E(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						CCGAACGAGACGTGGGCCTGG	0.701																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(94-96)GAC>GAA		zinc finger protein of the cerebellum 1							30.0	32.0	32.0					3																	147127995		2191	4282	6473	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.chr3:147127995C>A	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.96C>A	3.37:g.147127995C>A	ENSP00000282928:p.Asp32Glu						p.D32E	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	815	+			32					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.96C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	1.368	-0.586835	0.03827	.	.	ENSG00000152977	ENST00000282928	T	0.11712	2.75	3.72	1.69	0.24217	.	0.057111	0.64402	D	0.000002	T	0.03053	0.0090	N	0.04787	-0.16	0.31192	N	0.70083	B	0.02656	0.0	B	0.06405	0.002	T	0.40365	-0.9567	10	0.02654	T	1	.	2.82	0.05468	0.2562:0.4915:0.1427:0.1096	.	32	Q15915	ZIC1_HUMAN	E	32	ENSP00000282928:D32E	ENSP00000282928:D32E	D	+	3	2	ZIC1	148610685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.183000	0.42565	1.625000	0.50366	0.442000	0.29010	GAC		PASS	0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		17	51	17	51	---	---	---	---
CLRN1	7401	broad.mit.edu	37	3	150690483	150690483	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:150690483G>C	ENST00000327047.1	-	1	303	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.Q5E	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	5					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.Q5E(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATTTTCTTCTGTTGGCTTGGC	0.483																																						uc003eyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CAG>GAG		clarin 1 isoform a							72.0	69.0	70.0					3																	150690483		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150690483G>C	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.13C>G	3.37:g.150690483G>C	ENSP00000322280:p.Gln5Glu					CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_RNA	p.Q5E	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	304	-			5					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.13C>G	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421909	0.83559	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.76060	-0.99;-0.99	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.70595	2.14	0.80722	D	1	D	0.58620	0.983	P	0.52758	0.708	T	0.78785	-0.2068	10	0.27785	T	0.31	2.2764	19.5144	0.95157	0.0:0.0:1.0:0.0	.	5	P58418	CLRN1_HUMAN	E	5	ENSP00000322280:Q5E;ENSP00000329158:Q5E	ENSP00000322280:Q5E	Q	-	1	0	CLRN1	152173173	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.178000	0.94855	2.618000	0.88619	0.655000	0.94253	CAG		PASS	0.483	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			9	57	9	57	---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152132854	152132854	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:152132854T>C	ENST00000463374.1	+	2	810	c.299T>C	c.(298-300)aTg>aCg	p.M100T	MBNL1_ENST00000485509.1_Missense_Mutation_p.M100T|MBNL1_ENST00000355460.2_Missense_Mutation_p.M100T|MBNL1_ENST00000357472.3_Missense_Mutation_p.M100T|MBNL1_ENST00000493459.1_Missense_Mutation_p.M43T|MBNL1_ENST00000282486.6_Missense_Mutation_p.M100T|MBNL1_ENST00000545754.1_Missense_Mutation_p.M100T|MBNL1_ENST00000485910.1_Missense_Mutation_p.M100T|MBNL1_ENST00000282488.7_Missense_Mutation_p.M100T|MBNL1_ENST00000492948.1_Missense_Mutation_p.M100T|MBNL1_ENST00000498502.1_Missense_Mutation_p.M100T|MBNL1_ENST00000324210.5_Missense_Mutation_p.M100T|MBNL1_ENST00000324196.5_Missense_Mutation_p.M100T	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	100					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M100T(3)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCCCAGCAAATGCAACTAGCC	0.428																																						uc003ezm.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(298-300)ATG>ACG		muscleblind-like 1 isoform c							136.0	124.0	128.0					3																	152132854		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152132854T>C	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.299T>C	3.37:g.152132854T>C	ENSP00000418108:p.Met100Thr					MBNL1_uc003ezh.2_Missense_Mutation_p.M100T|MBNL1_uc003ezi.2_Missense_Mutation_p.M100T|MBNL1_uc003ezj.2_Missense_Mutation_p.M43T|MBNL1_uc003ezl.2_Missense_Mutation_p.M100T|MBNL1_uc003ezp.2_Missense_Mutation_p.M100T|MBNL1_uc003ezn.2_Missense_Mutation_p.M100T|MBNL1_uc003ezo.2_Missense_Mutation_p.M100T|MBNL1_uc010hvp.2_Missense_Mutation_p.M8T	p.M100T	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	1088	+			100					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.299T>C	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.715777|4.715777	0.89112|0.89112	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71031|0.71031	0.3292|0.3292	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|P;P;B;B;B;D;B;P;D	.|0.89917	.|0.474;0.944;0.018;0.015;0.051;1.0;0.059;0.911;0.995	.|B;P;B;B;B;D;B;P;D	.|0.85130	.|0.14;0.621;0.036;0.032;0.062;0.997;0.24;0.755;0.991	T|T	0.73877|0.73877	-0.3844|-0.3844	5|10	.|0.54805	.|T	.|0.06	.|.	16.3756|16.3756	0.83387|0.83387	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|100;100;100;100;100;100;43;100;100	.|C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;.;MBNL1_HUMAN;.;.;.;.	R|T	99|100;100;100;8;43;100;44;8;100;100;100;100;100;100;100;100;100;3	.|ENSP00000282486:M100T;ENSP00000282488:M100T;ENSP00000347637:M100T;ENSP00000417741:M8T;ENSP00000419347:M43T;ENSP00000319429:M100T;ENSP00000417169:M44T;ENSP00000420680:M8T;ENSP00000420327:M100T;ENSP00000319374:M100T;ENSP00000437491:M100T;ENSP00000350064:M100T;ENSP00000418427:M100T;ENSP00000418108:M100T;ENSP00000417630:M100T;ENSP00000420103:M100T;ENSP00000418876:M100T	.|ENSP00000282486:M100T	C|M	+|+	1|2	0|0	MBNL1|MBNL1	153615544|153615544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	TGC|ATG		PASS	0.428	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		50	66	50	66	---	---	---	---
SHOX2	6474	broad.mit.edu	37	3	157820615	157820615	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:157820615G>A	ENST00000425436.3	-	2	432	c.407C>T	c.(406-408)aCc>aTc	p.T136I	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.T136I|SHOX2_ENST00000441443.2_Missense_Mutation_p.T7I|SHOX2_ENST00000490689.2_Missense_Mutation_p.T7I|SHOX2_ENST00000389589.4_Missense_Mutation_p.T160I	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	136					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T160I(1)|p.T7I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTTGATTTTGGTCTGGCCTTC	0.572																																						uc003fbr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(406-408)ACC>ATC		short stature homeobox 2 isoform a							184.0	150.0	162.0					3																	157820615		2203	4300	6503	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820615G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.407C>T	3.37:g.157820615G>A	ENSP00000398704:p.Thr136Ile					SHOX2_uc003fbs.2_Missense_Mutation_p.T160I|SHOX2_uc010hvw.2_Missense_Mutation_p.T136I	p.T136I	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	546	-			136					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.407C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769485	0.90020	.	.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	T;D;T;D;T	0.95447	1.56;-3.71;1.42;-3.71;1.42	5.47	5.47	0.80525	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	L	0.32530	0.975	0.80722	D	1	P;P;P	0.49961	0.9;0.93;0.673	P;P;B	0.47645	0.553;0.458;0.36	D	0.93956	0.7236	10	0.46703	T	0.11	.	19.3186	0.94226	0.0:0.0:1.0:0.0	.	136;160;136	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	I	160;7;136;7;7;136	ENSP00000398704:T160I;ENSP00000451888:T7I;ENSP00000374240:T136I;ENSP00000397099:T7I;ENSP00000419362:T136I	ENSP00000327294:T7I	T	-	2	0	SHOX2;AC112502.1	159303309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.929000	0.87595	2.567000	0.86603	0.643000	0.83706	ACC		PASS	0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			52	71	52	71	---	---	---	---
SI	6476	broad.mit.edu	37	3	164714433	164714433	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:164714433C>A	ENST00000264382.3	-	40	4644	c.4582G>T	c.(4582-4584)Gca>Tca	p.A1528S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1528	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A1528S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGATGTCTGCTCCAGTCTAA	0.303										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4582-4584)GCA>TCA		sucrase-isomaltase	Acarbose(DB00284)						48.0	49.0	49.0					3																	164714433		2200	4296	6496	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164714433C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4582G>T	3.37:g.164714433C>A	ENSP00000264382:p.Ala1528Ser	HNSCC(35;0.089)					p.A1528S	NM_001041	NP_001032	P14410	SUIS_HUMAN			40	4644	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1528			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4582G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458509	0.84317	.	.	ENSG00000090402	ENST00000264382	D	0.92149	-2.98	4.42	4.42	0.53409	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	L	0.47016	1.485	0.80722	D	1	D	0.56287	0.975	D	0.68039	0.955	D	0.94530	0.7735	10	0.59425	D	0.04	.	17.1549	0.86788	0.0:1.0:0.0:0.0	.	1528	P14410	SUIS_HUMAN	S	1528	ENSP00000264382:A1528S	ENSP00000264382:A1528S	A	-	1	0	SI	166197127	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.302000	0.78861	2.449000	0.82847	0.585000	0.79938	GCA		PASS	0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		120	103	120	103	---	---	---	---
SI	6476	broad.mit.edu	37	3	164764675	164764675	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:164764675C>G	ENST00000264382.3	-	16	1903	c.1841G>C	c.(1840-1842)tGg>tCg	p.W614S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	614	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.W614S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTTATAGACCATTCCATTTG	0.383										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1840-1842)TGG>TCG		sucrase-isomaltase	Acarbose(DB00284)						107.0	104.0	105.0					3																	164764675		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164764675C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1841G>C	3.37:g.164764675C>G	ENSP00000264382:p.Trp614Ser	HNSCC(35;0.089)					p.W614S	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1903	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	614			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1841G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552778	0.65425	.	.	ENSG00000090402	ENST00000264382	D	0.92249	-3.0	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93159	0.6556	10	0.36615	T	0.2	.	11.5397	0.50659	0.0:0.9181:0.0:0.0819	.	614	P14410	SUIS_HUMAN	S	614	ENSP00000264382:W614S	ENSP00000264382:W614S	W	-	2	0	SI	166247369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.654000	0.67974	2.519000	0.84933	0.467000	0.42956	TGG		PASS	0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		30	328	30	328	---	---	---	---
SI	6476	broad.mit.edu	37	3	164786965	164786965	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:164786965C>A	ENST00000264382.3	-	4	336	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	92	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G92C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGCAGCAGCCTCTCTGTGCA	0.368										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(274-276)GGC>TGC		sucrase-isomaltase	Acarbose(DB00284)						42.0	44.0	43.0					3																	164786965		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786965C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.274G>T	3.37:g.164786965C>A	ENSP00000264382:p.Gly92Cys	HNSCC(35;0.089)					p.G92C	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	336	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	92			Lumenal.|P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.274G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257274	0.80246	.	.	ENSG00000090402	ENST00000264382	T	0.61742	0.08	5.91	5.01	0.66863	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.198823	0.52532	N	0.000065	T	0.81941	0.4929	M	0.94142	3.5	0.48452	D	0.999651	D	0.89917	1.0	D	0.83275	0.996	D	0.86808	0.1996	10	0.87932	D	0	.	13.6468	0.62286	0.0:0.922:0.0:0.078	.	92	P14410	SUIS_HUMAN	C	92	ENSP00000264382:G92C	ENSP00000264382:G92C	G	-	1	0	SI	166269659	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	5.031000	0.64134	1.424000	0.47217	0.655000	0.94253	GGC		PASS	0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	142	12	142	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905964	164905964	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:164905964T>C	ENST00000475390.1	-	2	3098	c.2655A>G	c.(2653-2655)ctA>ctG	p.L885L	SLITRK3_ENST00000241274.3_Silent_p.L885L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	885					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L885L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTCTCGATCTAGTAGCATAC	0.567										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2653-2655)CTA>CTG		slit and trk like 3 protein precursor							51.0	49.0	50.0					3																	164905964		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905964T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2655A>G	3.37:g.164905964T>C		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L885L	p.L885L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3099	-			885			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2655A>G	CCDS3197.1																																																																																				PASS	0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		16	192	16	192	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906343	164906343	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:164906343C>A	ENST00000475390.1	-	2	2719	c.2276G>T	c.(2275-2277)cGt>cTt	p.R759L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R759L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	759					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R759L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCCTCCTCACGAGGCTTGTA	0.577										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2275-2277)CGT>CTT		slit and trk like 3 protein precursor							85.0	86.0	86.0					3																	164906343		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906343C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2276G>T	3.37:g.164906343C>A	ENSP00000420091:p.Arg759Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R759L	p.R759L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2720	-			759			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2276G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783666	0.49891	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58940	0.3;0.3	5.44	5.44	0.79542	.	0.000000	0.35151	N	0.003413	T	0.57651	0.2068	N	0.19112	0.55	0.50171	D	0.999851	D	0.63880	0.993	P	0.54174	0.744	T	0.62487	-0.6844	10	0.72032	D	0.01	-9.3961	18.1971	0.89826	0.0:1.0:0.0:0.0	.	759	O94933	SLIK3_HUMAN	L	759	ENSP00000420091:R759L;ENSP00000241274:R759L	ENSP00000241274:R759L	R	-	2	0	SLITRK3	166389037	0.998000	0.40836	0.730000	0.30809	0.974000	0.67602	3.830000	0.55768	2.832000	0.97577	0.655000	0.94253	CGT		PASS	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		32	266	32	266	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167045853	167045853	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:167045853G>C	ENST00000392766.2	-	11	1079	c.739C>G	c.(739-741)Ctg>Gtg	p.L247V	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.L247V|ZBBX_ENST00000392764.1_Missense_Mutation_p.L218V|ZBBX_ENST00000392767.2_Missense_Mutation_p.L247V|ZBBX_ENST00000455345.2_Missense_Mutation_p.L247V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	247						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L247V(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCACACAACAGACTCTTTCTT	0.363																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(739-741)CTG>GTG		zinc finger, B-box domain containing							237.0	215.0	222.0					3																	167045853		1869	4107	5976	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167045853G>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.739C>G	3.37:g.167045853G>C	ENSP00000376519:p.Leu247Val					ZBBX_uc011bpc.1_Missense_Mutation_p.L247V|ZBBX_uc003feq.2_Missense_Mutation_p.L218V	p.L247V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			11	1062	-			247					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.739C>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	6.480	0.456735	0.12283	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11821	2.91;2.91;2.91;2.91;2.74	5.57	2.76	0.32466	.	0.333064	0.15841	U	0.242046	T	0.09379	0.0231	L	0.38531	1.155	0.09310	N	1	B;B	0.25563	0.129;0.079	B;B	0.26202	0.067;0.031	T	0.31613	-0.9937	10	0.26408	T	0.33	2.9599	3.6575	0.08226	0.0898:0.1678:0.5686:0.1739	.	247;247	A8MT70-2;A8MT70	.;ZBBX_HUMAN	V	247;247;247;247;218	ENSP00000376519:L247V;ENSP00000376520:L247V;ENSP00000390232:L247V;ENSP00000305065:L247V;ENSP00000376517:L218V	ENSP00000305065:L247V	L	-	1	2	ZBBX	168528547	0.002000	0.14202	0.001000	0.08648	0.017000	0.09413	1.045000	0.30341	0.687000	0.31509	0.557000	0.71058	CTG		PASS	0.363	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		53	449	53	449	---	---	---	---
SKIL	6498	broad.mit.edu	37	3	170079108	170079108	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:170079108A>T	ENST00000458537.3	+	1	1698	c.989A>T	c.(988-990)cAt>cTt	p.H330L	SKIL_ENST00000413427.2_Missense_Mutation_p.H330L|SKIL_ENST00000426052.2_Missense_Mutation_p.H310L|SKIL_ENST00000259119.4_Missense_Mutation_p.H330L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	330					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.H330L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTATCTTCATGTGAACCAA	0.383																																						uc003fgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(988-990)CAT>CTT		SKI-like isoform 1							85.0	89.0	88.0					3																	170079108		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170079108A>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.989A>T	3.37:g.170079108A>T	ENSP00000415243:p.His330Leu					SKIL_uc011bps.1_Missense_Mutation_p.H310L|SKIL_uc003fgv.2_Missense_Mutation_p.H330L|SKIL_uc003fgw.2_Missense_Mutation_p.H330L	p.H330L	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	1701	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		330					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.989A>T	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021410	0.54576	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.90261	-2.64;-2.64;-2.63;-2.64	5.83	5.83	0.93111	SAND domain-like (2);c-SKI Smad4-binding (1);	0.094385	0.85682	D	0.000000	D	0.90604	0.7054	N	0.17312	0.475	0.53688	D	0.999972	B;D	0.64830	0.234;0.994	B;D	0.67725	0.198;0.953	D	0.90618	0.4557	10	0.35671	T	0.21	-20.4751	16.2481	0.82460	1.0:0.0:0.0:0.0	.	330;330	P12757-3;P12757	.;SKIL_HUMAN	L	330;310;330;330	ENSP00000259119:H330L;ENSP00000406520:H310L;ENSP00000400193:H330L;ENSP00000415243:H330L	ENSP00000259119:H330L	H	+	2	0	SKIL	171561802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.241000	0.73720	0.524000	0.50904	CAT		PASS	0.383	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		50	306	50	306	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		PASS	0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			77	122	77	122	---	---	---	---
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						uc003fpd.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(16-18)TCG>TTG		hypothetical protein LOC285382							16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382							g.chr3:184870595G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu						p.S6L	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	208	-			6					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.17C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG		PASS	0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		8	101	8	101	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185169181	185169181	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:185169181C>G	ENST00000265026.3	+	7	1610	c.1276C>G	c.(1276-1278)Cag>Gag	p.Q426E	MAP3K13_ENST00000446828.1_Missense_Mutation_p.Q219E|MAP3K13_ENST00000535426.1_Missense_Mutation_p.Q282E|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Q426E|MAP3K13_ENST00000443863.1_Missense_Mutation_p.Q282E	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.Q426E(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTTCAAGTCTCAGGTAAGTTG	0.423																																						uc010hyf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1276-1278)CAG>GAG		mitogen-activated protein kinase kinase kinase							101.0	94.0	96.0					3																	185169181		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169181C>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1276C>G	3.37:g.185169181C>G	ENSP00000265026:p.Gln426Glu					MAP3K13_uc011brt.1_Missense_Mutation_p.Q219E|MAP3K13_uc003fph.3_Missense_Mutation_p.Q194E|MAP3K13_uc011bru.1_Missense_Mutation_p.Q282E|MAP3K13_uc003fpi.2_Missense_Mutation_p.Q426E|MAP3K13_uc010hyg.2_Missense_Mutation_p.Q116E	p.Q426E	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		8	1542	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		426						Missense_Mutation	SNP	ENST00000265026.3	37	c.1276C>G	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112668	0.94339	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.78481	-1.18;-1.14;-1.05;-1.05;-1.14;0.07	5.76	5.76	0.90799	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.992;0.995;0.996	D;D;D	0.66196	0.942;0.922;0.913	D	0.88244	0.2912	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	282;219;426	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	E	219;426;282;282;426;171	ENSP00000411483:Q219E;ENSP00000399910:Q426E;ENSP00000409325:Q282E;ENSP00000439257:Q282E;ENSP00000265026:Q426E;ENSP00000415712:Q171E	ENSP00000265026:Q426E	Q	+	1	0	MAP3K13	186651875	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.423	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		84	112	84	112	---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185347593	185347593	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:185347593G>C	ENST00000296257.5	+	17	1971	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	SENP2_ENST00000427465.2_Missense_Mutation_p.K401N|SENP2_ENST00000545472.1_Missense_Mutation_p.K567N	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	577					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.R577R(1)|p.K577N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTTCCGGAAGAAGATGGTGT	0.468																																						uc003fpn.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1729-1731)AAG>AAC		SUMO1/sentrin/SMT3 specific protease 2							188.0	167.0	174.0					3																	185347593		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185347593G>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1731G>C	3.37:g.185347593G>C	ENSP00000296257:p.Lys577Asn					SENP2_uc011brv.1_Missense_Mutation_p.K567N|SENP2_uc011brw.1_Missense_Mutation_p.K390N	p.K577N	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		17	1902	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		577					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.1731G>C	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674195	0.67928	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.32988	1.43;1.43;1.43	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.84082	2.675	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.59841	-0.7378	10	0.56958	D	0.05	-24.6493	13.0283	0.58827	0.0771:0.0:0.9229:0.0	.	567;577	B4DQ42;Q9HC62	.;SENP2_HUMAN	N	567;577;448;401	ENSP00000439653:K567N;ENSP00000296257:K577N;ENSP00000394562:K401N	ENSP00000296257:K577N	K	+	3	2	SENP2	186830287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.844000	0.55873	2.779000	0.95612	0.650000	0.86243	AAG		PASS	0.468	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		26	171	26	171	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186333536	186333536	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:186333536G>T	ENST00000273784.5	+	2	352	c.276G>T	c.(274-276)ctG>ctT	p.L92L	AHSG_ENST00000411641.2_Silent_p.L92L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	92	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.L92L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCCATGTGCTGGACCCCACCC	0.567																																						uc003fqk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CTG>CTT		alpha-2-HS-glycoprotein							82.0	79.0	80.0					3																	186333536		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186333536G>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.276G>T	3.37:g.186333536G>T						AHSG_uc003fqj.2_Silent_p.L92L|AHSG_uc003fql.3_Silent_p.L92L|AHSG_uc003fqm.3_Silent_p.L91L|AHSG_uc010hyp.2_Intron	p.L92L	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	2	357	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		92			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.276G>T																																																																																					PASS	0.567	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		113	49	113	49	---	---	---	---
CCDC50	152137	broad.mit.edu	37	3	191075833	191075833	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:191075833G>A	ENST00000392455.3	+	3	757	c.159G>A	c.(157-159)caG>caA	p.Q53Q	CCDC50_ENST00000392456.3_Silent_p.Q53Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	53						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.Q53Q(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTTTGGTCCAGCATGATCTCC	0.488																																						uc003fsw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)CAG>CAA		Ymer protein short isoform							175.0	162.0	167.0					3																	191075833		2203	4300	6503	SO:0001819	synonymous_variant	152137					cytoplasm	protein binding	g.chr3:191075833G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.159G>A	3.37:g.191075833G>A						CCDC50_uc003fsv.2_Silent_p.Q53Q	p.Q53Q	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	3	749	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		53					Q86VH7	Silent	SNP	ENST00000392455.3	37	c.159G>A	CCDS33913.1																																																																																				PASS	0.488	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		54	509	54	509	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194147892	194147892	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:194147892G>C	ENST00000439040.1	-	29	3828	c.3037C>G	c.(3037-3039)Cag>Gag	p.Q1013E	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q1013E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1013						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Q1013E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATGATAATCTGAGACAAAACG	0.413																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3037-3039)CAG>GAG		ATPase type 13A3							68.0	67.0	68.0					3																	194147892		1815	4082	5897	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147892G>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3037C>G	3.37:g.194147892G>C	ENSP00000416508:p.Gln1013Glu					ATP13A3_uc003ftx.3_5'Flank	p.Q1013E	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	28	3439	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1013			Helical; (Potential).		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.3037C>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383707	0.82792	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.89939	-2.59;-2.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	M	0.88570	2.965	0.80722	D	1	P	0.45768	0.866	P	0.48089	0.566	D	0.94177	0.7428	10	0.62326	D	0.03	0.5226	18.9554	0.92657	0.0:0.0:1.0:0.0	.	1013	Q9H7F0	AT133_HUMAN	E	1013	ENSP00000416508:Q1013E;ENSP00000256031:Q1013E	ENSP00000256031:Q1013E	Q	-	1	0	ATP13A3	195629181	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.500000	0.81588	2.469000	0.83416	0.585000	0.79938	CAG		PASS	0.413	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		14	175	14	175	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195611843	195611843	+	Missense_Mutation	SNP	C	C	A	rs113498671		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:195611843C>A	ENST00000333602.6	-	4	913	c.296G>T	c.(295-297)cGg>cTg	p.R99L	TNK2_ENST00000381916.2_Missense_Mutation_p.R162L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.R99L|TNK2_ENST00000316664.3_Missense_Mutation_p.R99L|TNK2_ENST00000428187.1_Missense_Mutation_p.R131L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	99	SAM-like domain.		R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Tyr-284 leading to activation of AKT1). {ECO:0000269|PubMed:17344846}.|R -> W (in dbSNP:rs3747673). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R99L(2)|p.R99Q(1)|p.R162L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGAGGTCTTCCGGAAGGTGCT	0.642																																						uc003fvu.1																			4	Substitution - Missense(4)	p.R99Q(1)|p.R99R(1)	lung(3)|ovary(1)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(295-297)CGG>CTG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						46.0	45.0	45.0					3																	195611843		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611843C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.296G>T	3.37:g.195611843C>A	ENSP00000329425:p.Arg99Leu					TNK2_uc003fvs.1_Missense_Mutation_p.R131L|TNK2_uc003fvt.1_Missense_Mutation_p.R162L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Missense_Mutation_p.R113L	p.R99L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	4	839	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	99		R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Tyr-284 leading to activation of AKT1).	SAM-like domain.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.296G>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090274	0.55968	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.75477	-0.91;-0.94;-0.92;-0.91;-0.91	4.92	3.1	0.35709	Protein kinase-like domain (1);	0.237632	0.34507	N	0.003909	T	0.56366	0.1980	L	0.29908	0.895	0.46185	D	0.99891	B;B;P;B	0.37688	0.136;0.126;0.605;0.138	B;B;B;B	0.31442	0.105;0.038;0.13;0.04	T	0.49380	-0.8946	10	0.29301	T	0.29	.	9.3069	0.37881	0.0:0.7722:0.146:0.0817	.	99;99;162;131	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	L	99;162;131;99;99	ENSP00000329425:R99L;ENSP00000371341:R162L;ENSP00000392546:R131L;ENSP00000376201:R99L;ENSP00000323216:R99L	ENSP00000323216:R99L	R	-	2	0	TNK2	197096240	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.368000	0.52357	0.574000	0.29417	0.407000	0.27541	CGG		PASS	0.642	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		21	164	21	164	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197566206	197566206	+	Silent	SNP	G	G	A	rs375044345		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:197566206G>A	ENST00000425562.2	+	10	1266	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	LRCH3_ENST00000334859.4_Silent_p.K422K|LRCH3_ENST00000414675.2_Silent_p.K394K|LRCH3_ENST00000441090.2_Silent_p.K268K|LRCH3_ENST00000438796.2_Silent_p.K422K|LRCH3_ENST00000536618.1_Silent_p.K17K			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	422						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.K422K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CACCAGTAAAGCCAGTAGCCA	0.328																																						uc011bul.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1264-1266)AAG>AAA		leucine-rich repeats and calponin homology (CH)							49.0	50.0	50.0					3																	197566206		2203	4298	6501	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197566206G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1266G>A	3.37:g.197566206G>A						LRCH3_uc003fyj.1_Silent_p.K422K|LRCH3_uc011bum.1_Silent_p.K394K|LRCH3_uc011bun.1_Silent_p.K268K|LRCH3_uc003fyk.2_Silent_p.K17K	p.K422K	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	10	1271	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		422					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.1266G>A																																																																																					PASS	0.328	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		99	89	99	89	---	---	---	---
ZNF141	7700	broad.mit.edu	37	4	366586	366586	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:366586G>A	ENST00000240499.7	+	4	509	c.360G>A	c.(358-360)ttG>ttA	p.L120L	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Silent_p.L120L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	120					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L120L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GTAAAAGTTTGAATGAGTGTA	0.343																																						uc003gaa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)TTG>TTA		zinc finger protein 141							78.0	84.0	82.0					4																	366586		2203	4299	6502	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:366586G>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.360G>A	4.37:g.366586G>A						ZNF141_uc003gab.2_Silent_p.L120L	p.L120L	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	538	+			120					Q6DK07	Silent	SNP	ENST00000240499.7	37	c.360G>A	CCDS33931.1																																																																																				PASS	0.343	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		29	66	29	66	---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7726979	7726979	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:7726979A>G	ENST00000507866.2	+	20	2819	c.2710A>G	c.(2710-2712)Acc>Gcc	p.T904A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T732A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	904					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T754A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCTAACCTCACCGTCTTCTA	0.622																																						uc003gkb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2710-2712)ACC>GCC		VPS10 domain receptor protein SORCS 2 precursor							69.0	74.0	73.0					4																	7726979		2028	4192	6220	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7726979A>G	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2710A>G	4.37:g.7726979A>G	ENSP00000422185:p.Thr904Ala					SORCS2_uc011bwi.1_Missense_Mutation_p.T732A	p.T904A	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			20	2710	+			904			Lumenal (Potential).		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2710A>G	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148150	0.21288	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14144	2.53;2.55	3.71	3.71	0.42584	.	0.155460	0.41001	U	0.000976	T	0.14874	0.0359	L	0.51422	1.61	0.51233	D	0.999917	P;P	0.45428	0.75;0.858	B;B	0.42422	0.253;0.387	T	0.04481	-1.0948	10	0.31617	T	0.26	.	12.3797	0.55299	1.0:0.0:0.0:0.0	.	732;904	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	904;732	ENSP00000422185:T904A;ENSP00000329124:T732A	ENSP00000329124:T732A	T	+	1	0	SORCS2	7777879	1.000000	0.71417	0.998000	0.56505	0.208000	0.24298	6.199000	0.72112	1.329000	0.45376	0.372000	0.22366	ACC		PASS	0.622	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		19	22	19	22	---	---	---	---
LAP3	51056	broad.mit.edu	37	4	17581491	17581491	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:17581491G>T	ENST00000226299.4	+	2	421	c.147G>T	c.(145-147)gtG>gtT	p.V49V	LAP3_ENST00000606142.1_Silent_p.V18V	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	49					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.V49V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AAGATGATGTGCCACAGTTCA	0.373																																						uc003gph.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GTG>GTT		leucine aminopeptidase 3							153.0	153.0	153.0					4																	17581491		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17581491G>T	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.147G>T	4.37:g.17581491G>T						LAP3_uc010ieg.2_Silent_p.V49V	p.V49V	NM_015907	NP_056991	P28838	AMPL_HUMAN			2	309	+			49					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.147G>T	CCDS3422.1																																																																																				PASS	0.373	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			39	34	39	34	---	---	---	---
TBC1D19	55296	broad.mit.edu	37	4	26641807	26641807	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:26641807G>C	ENST00000264866.4	+	7	756	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000511789.1_Missense_Mutation_p.E95Q|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	160							Rab GTPase activator activity (GO:0005097)	p.E160Q(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGATTTTCTTGAGGTAGGTTC	0.274																																						uc003gsf.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(478-480)GAG>CAG		TBC1 domain family, member 19							66.0	73.0	71.0					4																	26641807		2194	4291	6485	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26641807G>C	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.478G>C	4.37:g.26641807G>C	ENSP00000264866:p.Glu160Gln					TBC1D19_uc010iew.2_Missense_Mutation_p.E160Q|TBC1D19_uc011bxu.1_Missense_Mutation_p.E95Q	p.E160Q	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			7	748	+		Breast(46;0.0503)	160					B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.478G>C	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862127	0.71949	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	T;T;T;T	0.54279	0.58;1.26;0.59;1.3	5.25	5.25	0.73442	.	0.047454	0.85682	D	0.000000	T	0.61924	0.2386	M	0.72118	2.19	0.80722	D	1	P;D;D	0.54207	0.906;0.965;0.965	B;P;P	0.48598	0.36;0.583;0.583	T	0.66724	-0.5851	10	0.54805	T	0.06	-9.4101	17.6011	0.88025	0.0:0.0:1.0:0.0	.	95;160;160	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	Q	129;160;95;95	ENSP00000427033:E129Q;ENSP00000264866:E160Q;ENSP00000423097:E95Q;ENSP00000425569:E95Q	ENSP00000264866:E160Q	E	+	1	0	TBC1D19	26250905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.095000	0.76952	2.448000	0.82819	0.561000	0.74099	GAG		PASS	0.274	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		26	69	26	69	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:46043100G>A	ENST00000295452.4	-	9	1470	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGGCAATGCGTATGTGTATC	0.403																																						uc003gxb.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(1303-1305)CGC>TGC		gamma-aminobutyric acid A receptor, gamma 1							132.0	133.0	132.0					4																	46043100		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043100G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1303C>T	4.37:g.46043100G>A	ENSP00000295452:p.Arg435Cys						p.R435C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1455	-			435			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1303C>T	CCDS3470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.211790|5.211790	0.95069|0.95069	.|.	.|.	ENSG00000163285|ENSG00000163285	ENST00000295452|ENST00000540030	D|.	0.84660|.	-1.88|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.117464|.	0.64402|.	D|.	0.000011|.	T|T	0.74891|0.74891	0.3776|0.3776	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65010|.	0.931|.	T|T	0.72050|0.72050	-0.4407|-0.4407	10|6	0.72032|0.33141	D|T	0.01|0.24	.|.	18.356|18.356	0.90357|0.90357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q8N1C3|.	GBRG1_HUMAN|.	C|M	435|415	ENSP00000295452:R435C|.	ENSP00000295452:R435C|ENSP00000445441:T415M	R|T	-|-	1|2	0|0	GABRG1|GABRG1	45737857|45737857	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.973000|0.973000	0.67179|0.67179	7.919000|7.919000	0.87513|0.87513	2.580000|2.580000	0.87095|0.87095	0.585000|0.585000	0.79938|0.79938	CGC|ACG		PASS	0.403	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		52	37	52	37	---	---	---	---
SGCB	6443	broad.mit.edu	37	4	52894207	52894207	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:52894207C>A	ENST00000381431.5	-	5	902	c.680G>T	c.(679-681)cGt>cTt	p.R227L	SGCB_ENST00000535450.1_Missense_Mutation_p.R157L	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	227	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.R227L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCATTTCCACGCACAATAGC	0.338																																						uc003gzj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)CGT>CTT		sarcoglycan, beta							134.0	128.0	130.0					4																	52894207		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52894207C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.680G>T	4.37:g.52894207C>A	ENSP00000370839:p.Arg227Leu					SGCB_uc011bzp.1_Missense_Mutation_p.R157L	p.R227L	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		5	740	-			227			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.680G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277996	0.95459	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94828	-3.53;-3.53	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	D	0.95835	0.8861	10	0.38643	T	0.18	-16.5307	17.9815	0.89143	0.0:1.0:0.0:0.0	.	157;227	B7Z635;Q16585	.;SGCB_HUMAN	L	227;157	ENSP00000370839:R227L;ENSP00000441199:R157L	ENSP00000370839:R227L	R	-	2	0	SGCB	52588964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.697000	0.84279	2.488000	0.83962	0.655000	0.94253	CGT		PASS	0.338	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			77	51	77	51	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55593588	55593588	+	Missense_Mutation	SNP	A	A	T	rs121913234		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:55593588A>T	ENST00000288135.5	+	11	1751	c.1654A>T	c.(1654-1656)Atg>Ttg	p.M552L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	552			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.|Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K550_K558del(7)|p.P551_V555del(7)|p.P551_E554del(6)|p.P551_M552>L(6)|p.K550_V555del(5)|p.M552_W557del(5)|p.M552_Y553del(4)|p.M552_E554del(3)|p.P551_Q556del(3)|p.K550_E554del(3)|p.M552L(3)|p.K550_V559del(2)|p.K550fs*6(2)|p.K550_V555>I(2)|p.M552_Q556del(2)|p.Q549_V555>I(1)|p.K550_V555>KTL(1)|p.P551_K558del(1)|p.K550_W557del(1)|p.P551_V555>L(1)|p.M552_V555del(1)|p.M552_Q556>(1)|p.?(1)|p.M552_K558del(1)|p.M552_D572del(1)|p.P551_V559del>L(1)|p.K550_Q556>II(1)|p.K550_Q556del(1)|p.P551_E554>H(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGAAACCCATGTATGAAGT	0.373		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		74	Deletion - In frame(54)|Complex - deletion inframe(14)|Substitution - Missense(3)|Deletion - Frameshift(2)|Unknown(1)	p.K550_K558del(33)|p.M552_W557del(19)|p.M552_Y553del(15)|p.P551_E554del(14)|p.P551_V555del(12)|p.M552_V555del(11)|p.K550_E554del(10)|p.P551_M552>L(9)|p.P551_Q556del(9)|p.M552_E554>K(7)|p.K550_V555del(6)|p.K550_V555>I(6)|p.M552_V559>I(5)|p.K550_Q556del(5)|p.M552_E554del(4)|p.K550_W557del(4)|p.M552_K558del(4)|p.M552_Q556del(4)|p.M552_D572del(4)|p.M552_Q556>K(4)|p.P551_V559del(3)|p.K550_V559del(3)|p.P551_Y553del(3)|p.P551_E554>H(3)|p.M552_E561>K(2)|p.P551_K558del(2)|p.L548_K558>Q(2)|p.M552_E554>I(2)|p.M552_K558>T(2)|p.M552V(2)|p.K550_K558>Q(2)|p.K550_E554>I(2)|p.P551_V569del(2)|p.M552L(2)|p.P551_M552del(2)|p.K550fs*6(2)|p.K550_W557>IL(2)|p.M552T(2)|p.M552_Q556>T(2)|p.P551_Q556>T(2)|p.K550_W557>QR(2)|p.Y547_K558>Q(2)|p.M552_V559>IT(1)|p.Q549_V555>I(1)|p.K550_V555>KTL(1)|p.M552_W557>Z(1)|p.K550_W557>IR(1)|p.P551_V559>I(1)|p.P551_W557>R(1)|p.K550_V560>L(1)|p.P551_V555>L(1)|p.M552_Y553>T(1)|p.M552_T574>TESA(1)|p.M552_I563del(1)|p.K550_W557>HR(1)|p.M552_V555>I(1)|p.M552_Q556>(1)|p.K550_Q556>L(1)|p.P551_Q556>HV(1)|p.P551_Y553>Q(1)|p.M552I(1)|p.P551_E561>Q(1)|p.K550_V555>QRI(1)|p.L548_E554>QK(1)|p.M552_V560del(1)|p.?(1)|p.P551_W557del(1)|p.M552_Y553>N(1)|p.K550_Y553del(1)|p.M552_K558>NE(1)|p.K550_Y568del(1)|p.K550_K558>G(1)|p.K550_W557>FL(1)|p.Q549_E554del(1)|p.M552K(1)|p.K550_V555>F(1)|p.P551_V569>L(1)|p.P551_V559del>L(1)|p.K550_Q556>II(1)|p.P551_V555>?(1)|p.M552_Y570del(1)	soft_tissue(71)|testis(1)|lung(1)|skin(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1654-1656)ATG>TTG		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						78.0	80.0	80.0					4																	55593588		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55593588A>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1654A>T	4.37:g.55593588A>T	ENSP00000288135:p.Met552Leu					KIT_uc010igs.2_Missense_Mutation_p.M548L|KIT_uc010igt.1_Missense_Mutation_p.M1L	p.M552L	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	11	1741	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		552		Missing (in GIST; somatic mutation).|Missing (in GIST; somatic mutation).	Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1654A>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369268	0.61624	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.94457	-3.43;-3.43	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.157554	0.45606	D	0.000348	D	0.91815	0.7410	L	0.41236	1.265	0.41815	D	0.989991	B;B;B	0.29590	0.015;0.051;0.25	B;B;B	0.28139	0.007;0.016;0.086	D	0.90334	0.4354	10	0.59425	D	0.04	.	16.6003	0.84812	1.0:0.0:0.0:0.0	.	59;548;552	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	L	552;548	ENSP00000288135:M552L;ENSP00000390987:M548L	ENSP00000288135:M552L	M	+	1	0	KIT	55288345	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.088000	0.94132	2.319000	0.78375	0.533000	0.62120	ATG		PASS	0.373	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			50	45	50	45	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55961110	55961110	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:55961110G>T	ENST00000263923.4	-	21	3125	c.2830C>A	c.(2830-2832)Cga>Aga	p.R944R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - coding silent(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2830-2832)CGA>AGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						75.0	70.0	71.0					4																	55961110		2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961110G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2830C>A	4.37:g.55961110G>T		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.R944R	p.R944R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3132	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		944			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2830C>A	CCDS3497.1																																																																																				PASS	0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			55	27	55	27	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62758438	62758438	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:62758438A>G	ENST00000514591.1	+	9	1670	c.1341A>G	c.(1339-1341)acA>acG	p.T447T	LPHN3_ENST00000512091.2_Silent_p.T447T|LPHN3_ENST00000508693.1_Silent_p.T515T|LPHN3_ENST00000507625.1_Silent_p.T515T|LPHN3_ENST00000514157.1_Silent_p.T447T|LPHN3_ENST00000514996.1_Silent_p.T447T|LPHN3_ENST00000508946.1_Silent_p.T447T|LPHN3_ENST00000545650.1_Silent_p.T447T|LPHN3_ENST00000506720.1_Silent_p.T515T|LPHN3_ENST00000504896.1_Silent_p.T447T|LPHN3_ENST00000507164.1_Silent_p.T515T|LPHN3_ENST00000511324.1_Silent_p.T515T|LPHN3_ENST00000506746.1_Silent_p.T515T|LPHN3_ENST00000506700.1_Silent_p.T447T|LPHN3_ENST00000509896.1_Silent_p.T515T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T447T(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCGGACCACAACTTTGAGCC	0.483																																						uc010ihh.2																			3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1339-1341)ACA>ACG		latrophilin 3 precursor							125.0	118.0	120.0					4																	62758438		1998	4170	6168	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758438A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1341A>G	4.37:g.62758438A>G						LPHN3_uc003hcq.3_Silent_p.T447T|LPHN3_uc003hcs.1_Silent_p.T276T	p.T447T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			7	1514	+			447			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1341A>G	CCDS54768.1																																																																																				PASS	0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			59	47	59	47	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70160366	70160366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:70160366C>T	ENST00000335568.5	+	6	1431	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	477					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R477*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CAAACACCTTCGAGTTGCAGC	0.463																																						uc003hej.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1429-1431)CGA>TGA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						81.0	90.0	87.0					4																	70160366		2064	4233	6297	SO:0001587	stop_gained	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160366C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1429C>T	4.37:g.70160366C>T	ENSP00000334276:p.Arg477*					UGT2B28_uc010ihr.2_3'UTR	p.R477*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			6	1431	+			477					B5BUM0|Q9BY62|Q9BY63	Nonsense_Mutation	SNP	ENST00000335568.5	37	c.1429C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	9.074	0.997696	0.19043	.	.	ENSG00000135226	ENST00000335568	.	.	.	1.85	-0.607	0.11615	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.30522	N	0.768355	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3835	0.26870	0.6489:0.351:0.0:0.0	.	.	.	.	X	477	.	ENSP00000334276:R477X	R	+	1	2	UGT2B28	70194955	0.002000	0.14202	0.043000	0.18650	0.008000	0.06430	-0.407000	0.07178	-0.437000	0.07243	0.184000	0.17185	CGA		PASS	0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		65	50	65	50	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618712	89618712	+	Missense_Mutation	SNP	G	G	T	rs200424572		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:89618712G>T	ENST00000323061.5	-	1	674	c.194C>A	c.(193-195)cCg>cAg	p.P65Q	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	65					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.P65Q(1)		endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GTCATTTTTCGGCTTTGGGGC	0.562																																						uc003hrx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(193-195)CCG>CAG		nucleosome assembly protein 1-like 5		G	,GLN/PRO	0,4406		0,0,2203	95.0	106.0	103.0		,194	3.2	0.7	4		103	1,8595	1.2+/-3.3	0,1,4297	yes	intron,missense	HERC3,NAP1L5	NM_014606.1,NM_153757.2	,76	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	,probably-damaging	,65/183	89618712	1,13001	2203	4298	6501	SO:0001583	missense	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618712G>T	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.194C>A	4.37:g.89618712G>T	ENSP00000320488:p.Pro65Gln					HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.P65Q	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	312	-			65						Missense_Mutation	SNP	ENST00000323061.5	37	c.194C>A	CCDS3632.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858111	0.71834	0.0	1.16E-4	ENSG00000177432	ENST00000323061;ENST00000539293	T	0.42131	0.98	3.24	3.24	0.37175	.	.	.	.	.	T	0.45155	0.1328	L	0.27053	0.805	0.29024	N	0.886105	D	0.89917	1.0	D	0.87578	0.998	T	0.18147	-1.0346	9	0.11485	T	0.65	-7.4584	10.2474	0.43350	0.0:0.0:1.0:0.0	.	65	Q96NT1	NP1L5_HUMAN	Q	65	ENSP00000320488:P65Q	ENSP00000320488:P65Q	P	-	2	0	NAP1L5	89837735	0.597000	0.26874	0.668000	0.29813	0.723000	0.41478	1.601000	0.36773	2.128000	0.65567	0.573000	0.79308	CCG		PASS	0.562	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		90	88	90	88	---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	101950344	101950344	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:101950344C>G	ENST00000394854.3	-	13	2031	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	PPP3CA_ENST00000512215.1_Missense_Mutation_p.E218Q|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E352Q|PPP3CA_ENST00000394853.4_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E383Q	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	450					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.E450Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCAATAGCCTCAACAGTAGCT	0.423																																						uc011cen.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1348-1350)GAG>CAG		protein phosphatase 3, catalytic subunit, alpha							109.0	116.0	114.0					4																	101950344		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101950344C>G		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1348G>C	4.37:g.101950344C>G	ENSP00000378323:p.Glu450Gln					PPP3CA_uc003hvu.2_Intron|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Intron|PPP3CA_uc003hvs.2_Missense_Mutation_p.E383Q|PPP3CA_uc010ilk.2_Missense_Mutation_p.E218Q	p.E450Q	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	13	2023	-			450					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1348G>C	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996117	0.74703	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000507176;ENST00000523694	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.27	5.27	0.74061	.	0.226631	0.38272	N	0.001756	T	0.04634	0.0126	N	0.03608	-0.345	0.53688	D	0.999976	B;P;B	0.45126	0.085;0.851;0.038	B;B;B	0.42692	0.033;0.395;0.033	T	0.59810	-0.7384	10	0.26408	T	0.33	-17.65	19.2573	0.93951	0.0:1.0:0.0:0.0	.	450;218;383	Q08209;A8W6Z8;A1A441	PP2BA_HUMAN;.;.	Q	218;450;352;383	ENSP00000422781:E218Q;ENSP00000378323:E450Q;ENSP00000422990:E352Q;ENSP00000429350:E383Q	ENSP00000378323:E450Q	E	-	1	0	PPP3CA	102169367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.496000	0.81526	2.632000	0.89209	0.650000	0.86243	GAG		PASS	0.423	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		23	108	23	108	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155127	106155127	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:106155127G>C	ENST00000540549.1	+	3	888	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	TET2_ENST00000305737.2_Missense_Mutation_p.E10Q|TET2_ENST00000513237.1_Missense_Mutation_p.E31Q|TET2_ENST00000413648.2_Missense_Mutation_p.E10Q|TET2_ENST00000545826.1_Missense_Mutation_p.E10Q|TET2_ENST00000394764.1_Missense_Mutation_p.E10Q|TET2_ENST00000380013.4_Missense_Mutation_p.E10Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	10					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.E10Q(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAACCATGTTGAGGGCAACAG	0.483			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(28-30)GAG>CAG		tet oncogene family member 2 isoform a							71.0	58.0	62.0					4																	106155127		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155127G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.28G>C	4.37:g.106155127G>C	ENSP00000442788:p.Glu10Gln					TET2_uc011cez.1_Missense_Mutation_p.E31Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E10Q|TET2_uc003hxi.1_Missense_Mutation_p.E10Q	p.E10Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	414	+		Myeloproliferative disorder(5;0.0393)	10					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.28G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714773	0.68730	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110;ENST00000514870	T;T;T;T;T;T;T;T	0.37584	3.38;4.12;3.38;4.11;4.12;3.38;3.4;1.19	5.4	5.4	0.78164	.	0.203980	0.24886	N	0.034820	T	0.49321	0.1550	L	0.32530	0.975	0.28820	N	0.897748	D;D;D	0.67145	0.974;0.974;0.996	P;P;P	0.62298	0.601;0.601;0.9	T	0.47711	-0.9096	10	0.72032	D	0.01	.	19.1895	0.93658	0.0:0.0:1.0:0.0	.	31;10;10	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	Q	10;10;10;31;10;10;10;10;10	ENSP00000306705:E10Q;ENSP00000442788:E10Q;ENSP00000442867:E10Q;ENSP00000425443:E31Q;ENSP00000369351:E10Q;ENSP00000378245:E10Q;ENSP00000391448:E10Q;ENSP00000426885:E10Q	ENSP00000265149:E10Q	E	+	1	0	TET2	106374576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	2.517000	0.84864	0.591000	0.81541	GAG		PASS	0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		29	28	29	28	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	118975437	118975437	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:118975437G>A	ENST00000296499.5	+	2	775	c.372G>A	c.(370-372)atG>atA	p.M124I	NDST3_ENST00000433996.2_Missense_Mutation_p.M124I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	124	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.M124I(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGACAAAATGAAAGGCAAAT	0.328																																						uc003ibx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(370-372)ATG>ATA		N-deacetylase/N-sulfotransferase (heparan							31.0	34.0	33.0					4																	118975437		2200	4296	6496	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975437G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.372G>A	4.37:g.118975437G>A	ENSP00000296499:p.Met124Ile					NDST3_uc011cgf.1_Missense_Mutation_p.M124I|NDST3_uc003ibw.2_Missense_Mutation_p.M124I	p.M124I	NM_004784	NP_004775	O95803	NDST3_HUMAN			2	775	+			124			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.372G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	2.561	-0.301766	0.05495	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.41400	1.33;1.0	5.54	-1.82	0.07857	.	0.873604	0.10488	N	0.668709	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.13407	0.0;0.0;0.009	T	0.14144	-1.0483	10	0.46703	T	0.11	.	2.3434	0.04265	0.1859:0.1043:0.3708:0.339	.	124;124;124	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	I	124	ENSP00000296499:M124I;ENSP00000396625:M124I	ENSP00000296499:M124I	M	+	3	0	NDST3	119194885	0.000000	0.05858	0.030000	0.17652	0.393000	0.30537	-0.197000	0.09518	-0.600000	0.05790	-0.262000	0.10625	ATG		PASS	0.328	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		4	49	4	49	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119252905	119252905	+	Missense_Mutation	SNP	C	C	G	rs538216345		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:119252905C>G	ENST00000296498.3	-	4	1219	c.937G>C	c.(937-939)Gat>Cat	p.D313H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	313	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D313H(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACTTCTGCATCGGCATCATCC	0.498																																						uc003ica.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(937-939)GAT>CAT		neurotrypsin precursor							84.0	76.0	79.0					4																	119252905		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119252905C>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.937G>C	4.37:g.119252905C>G	ENSP00000296498:p.Asp313His						p.D313H	NM_003619	NP_003610	P56730	NETR_HUMAN			4	984	-			313			SRCR 2.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.937G>C	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780677	0.70222	.	.	ENSG00000164099	ENST00000296498	T	0.37915	1.17	6.04	6.04	0.98038	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84520	0.0627	10	0.87932	D	0	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	313	P56730	NETR_HUMAN	H	313	ENSP00000296498:D313H	ENSP00000296498:D313H	D	-	1	0	PRSS12	119472353	1.000000	0.71417	0.165000	0.22776	0.283000	0.27025	7.719000	0.84751	2.873000	0.98535	0.561000	0.74099	GAT		PASS	0.498	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			4	63	4	63	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119653922	119653922	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:119653922G>C	ENST00000280551.6	-	20	2880	c.2642C>G	c.(2641-2643)tCt>tGt	p.S881C	SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.S512C|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.S882C			O94855	SC24D_HUMAN	SEC24 family member D	881					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.S881C(1)|p.S881F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GAAAAGCTGAGAGTCAGCCAC	0.488																																						uc003ici.3																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(2641-2643)TCT>TGT		Sec24-related protein D							163.0	132.0	142.0					4																	119653922		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119653922G>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2642C>G	4.37:g.119653922G>C	ENSP00000280551:p.Ser881Cys					SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.S882C|SEC24D_uc003ick.2_Missense_Mutation_p.S43C	p.S881C	NM_014822	NP_055637	O94855	SC24D_HUMAN			20	2914	-			881					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.2642C>G	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207655	0.79240	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	D;D;D	0.91124	-2.79;-2.79;-2.79	5.62	5.62	0.85841	Sec23/Sec24, helical domain (2);	0.049835	0.85682	D	0.000000	D	0.94202	0.8139	L	0.51422	1.61	0.80722	D	1	D;P;D	0.89917	0.999;0.522;1.0	D;B;D	0.83275	0.962;0.416;0.996	D	0.94180	0.7431	10	0.62326	D	0.03	-26.4057	19.6571	0.95847	0.0:0.0:1.0:0.0	.	43;882;881	Q9NWP5;O94855-2;O94855	.;.;SC24D_HUMAN	C	881;882;512	ENSP00000280551:S881C;ENSP00000369059:S882C;ENSP00000425491:S512C	ENSP00000280551:S881C	S	-	2	0	SEC24D	119873370	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	5.135000	0.64777	2.643000	0.89663	0.591000	0.81541	TCT		PASS	0.488	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			5	80	5	80	---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122846259	122846259	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:122846259G>C	ENST00000379645.3	-	3	1163	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V	TRPC3_ENST00000513531.1_Missense_Mutation_p.L291V|TRPC3_ENST00000264811.5_Missense_Mutation_p.L291V	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	279					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L291V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGATTCCAGATCTCCATTC	0.473																																						uc003ieg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1090-1092)CTG>GTG		transient receptor potential cation channel,							184.0	163.0	170.0					4																	122846259		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122846259G>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1090C>G	4.37:g.122846259G>C	ENSP00000368966:p.Leu364Val					TRPC3_uc010inr.2_Missense_Mutation_p.L291V|TRPC3_uc003ief.2_Missense_Mutation_p.L291V|TRPC3_uc011cgl.1_Missense_Mutation_p.L28V	p.L364V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			3	1164	-			279			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1090C>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	8.320	0.824144	0.16678	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.62788	-0.0;-0.0;-0.0	5.92	2.12	0.27331	.	0.129263	0.34906	N	0.003598	T	0.23289	0.0563	N	0.00841	-1.15	0.35942	D	0.833277	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.11641	-1.0579	10	0.10636	T	0.68	-59.0637	6.0633	0.19850	0.3128:0.2292:0.458:0.0	.	279;291;364	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	V	291;364;291	ENSP00000264811:L291V;ENSP00000368966:L364V;ENSP00000426899:L291V	ENSP00000264811:L291V	L	-	1	2	TRPC3	123065709	0.000000	0.05858	0.996000	0.52242	0.996000	0.88848	-0.123000	0.10611	0.847000	0.35167	0.655000	0.94253	CTG		PASS	0.473	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		76	58	76	58	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371354	126371354	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:126371354A>G	ENST00000394329.3	+	9	9196	c.9183A>G	c.(9181-9183)gcA>gcG	p.A3061A	FAT4_ENST00000335110.5_Silent_p.A1359A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3061	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3061A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGTCACTGCAAAGGATAAGG	0.403																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9181-9183)GCA>GCG		FAT tumor suppressor homolog 4 precursor							86.0	85.0	85.0					4																	126371354		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371354A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9183A>G	4.37:g.126371354A>G						FAT4_uc011cgp.1_Silent_p.A1359A|FAT4_uc003ifi.1_Silent_p.A539A	p.A3061A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9183	+			3061			Extracellular (Potential).|Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9183A>G	CCDS3732.3																																																																																				PASS	0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		30	29	30	29	---	---	---	---
GYPB	2994	broad.mit.edu	37	4	145038082	145038082	+	Intron	SNP	G	G	C	rs140973108		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:145038082G>C	ENST00000283126.7	-	1	93				GYPA_ENST00000535709.1_Silent_p.L68L|GYPA_ENST00000512789.1_Silent_p.L29L|GYPA_ENST00000324022.10_Silent_p.L61L|GYPA_ENST00000512064.1_Silent_p.L81L|GYPA_ENST00000503627.1_Silent_p.L49L|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Silent_p.L62L|GYPA_ENST00000360771.4_Silent_p.L94L			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L94L(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CAAAAATAATGAGTGTTATCT	0.348																																						uc003ijo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(280-282)CTC>CTG		glycophorin A precursor							111.0	115.0	113.0					4																	145038082		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038082G>C		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23669C>G	4.37:g.145038082G>C						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.L61L|GYPA_uc003ijp.3_Silent_p.L62L|GYPA_uc010ioq.2_Silent_p.L81L|GYPA_uc010ior.2_Silent_p.L29L|GYPA_uc010ios.1_RNA	p.L94L	NM_002099	NP_002090	P02724	GLPA_HUMAN			5	398	-	all_hematologic(180;0.15)		94	L->I: Diminishes dimerization.		Helical.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.282C>G																																																																																					PASS	0.348	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		37	115	37	115	---	---	---	---
SLC10A7	84068	broad.mit.edu	37	4	147431098	147431098	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:147431098G>A	ENST00000507030.1	-	3	286	c.287C>T	c.(286-288)tCa>tTa	p.S96L	SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000335472.7_Missense_Mutation_p.S96L|SLC10A7_ENST00000394059.4_Missense_Mutation_p.S96L|SLC10A7_ENST00000394062.3_Missense_Mutation_p.S96L|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000432059.2_Missense_Mutation_p.S96L|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	96					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S96L(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GGGTGTGATTGATAAAAGCTG	0.363																																						uc010ioz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(286-288)TCA>TTA		solute carrier family 10 (sodium/bile acid							85.0	86.0	86.0					4																	147431098		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147431098G>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.287C>T	4.37:g.147431098G>A	ENSP00000421275:p.Ser96Leu					SLC10A7_uc003ikr.2_Missense_Mutation_p.S96L|SLC10A7_uc010ipa.2_Missense_Mutation_p.S96L|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.S96L	p.S96L	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			3	541	-	all_hematologic(180;0.151)		96					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.287C>T	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506566	0.64410	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	5.47	0.80525	.	0.258301	0.39274	N	0.001406	T	0.40743	0.1129	N	0.13235	0.315	0.80722	D	1	B;B;B;B	0.17268	0.002;0.003;0.021;0.004	B;B;B;B	0.17098	0.004;0.007;0.017;0.003	T	0.28933	-1.0028	9	0.09843	T	0.71	-16.2775	17.8694	0.88807	0.0:0.0:1.0:0.0	.	96;96;96;96	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	L	96	.	ENSP00000334594:S96L	S	-	2	0	SLC10A7	147650548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.396000	0.90190	2.729000	0.93468	0.655000	0.94253	TCA		PASS	0.363	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		5	87	5	87	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158257696	158257696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:158257696G>A	ENST00000264426.9	+	11	1920	c.1641G>A	c.(1639-1641)tgG>tgA	p.W547*	GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W500*|GRIA2_ENST00000296526.7_Nonsense_Mutation_p.W547*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W500*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W500*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	547					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.W547*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATGAGATCTGGATGTGCATTG	0.453																																						uc003ipm.3																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(1639-1641)TGG>TGA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						236.0	221.0	226.0					4																	158257696		2203	4300	6503	SO:0001587	stop_gained	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257696G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1641G>A	4.37:g.158257696G>A	ENSP00000264426:p.Trp547*					GRIA2_uc011cit.1_Nonsense_Mutation_p.W500*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W547*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W500*|GRIA2_uc010iqh.1_RNA	p.W547*	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2100	+	all_hematologic(180;0.24)	Renal(120;0.0458)	547			Helical; (Potential).		A8MT92|I6L997|Q96FP6	Nonsense_Mutation	SNP	ENST00000264426.9	37	c.1641G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	40	8.056498	0.98632	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	.	.	.	X	500;500;547;547;500	.	ENSP00000264426:W547X	W	+	3	0	GRIA2	158477146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	TGG		PASS	0.453	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			128	111	128	111	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	164450146	164450146	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:164450146G>C	ENST00000503008.1	-	8	1600	c.624C>G	c.(622-624)ttC>ttG	p.F208L	MARCH1_ENST00000514618.1_Missense_Mutation_p.F464L|MARCH1_ENST00000274056.7_Missense_Mutation_p.F208L|RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000339875.5_Missense_Mutation_p.F191L	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	208					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F208L(1)|p.F191L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACCTCCTGTGAAGCCAATGG	0.438																																						uc003iqs.1																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(622-624)TTC>TTG		membrane-associated RING-CH protein I							62.0	60.0	61.0					4																	164450146		2202	4299	6501	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164450146G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.624C>G	4.37:g.164450146G>C	ENSP00000427223:p.Phe208Leu					MARCH1_uc003iqr.1_Missense_Mutation_p.F191L	p.F208L	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			8	1601	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	208			Helical; (Potential).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.624C>G	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308612	0.60305	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.33865	1.81;1.81;1.39;1.42	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.34221	0.0890	L	0.46157	1.445	0.54753	D	0.999981	P;B	0.34780	0.468;0.315	B;B	0.42798	0.225;0.398	T	0.05835	-1.0861	10	0.02654	T	1	.	13.0033	0.58690	0.0742:0.0:0.9258:0.0	.	208;191	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	L	208;208;464;191	ENSP00000274056:F208L;ENSP00000427223:F208L;ENSP00000421322:F464L;ENSP00000345676:F191L	ENSP00000274056:F208L	F	-	3	2	MARCH1	164669596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.390000	0.52523	2.742000	0.94016	0.591000	0.81541	TTC		PASS	0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		15	44	15	44	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169342981	169342981	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:169342981G>T	ENST00000511577.1	-	17	2571	c.2324C>A	c.(2323-2325)tCc>tAc	p.S775Y	DDX60L_ENST00000505890.1_Missense_Mutation_p.S775Y|DDX60L_ENST00000260184.7_Missense_Mutation_p.S775Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	775	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.S775Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GCAGTAGTAGGAAGCATAGGT	0.488																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2323-2325)TCC>TAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							225.0	223.0	224.0					4																	169342981		2203	4300	6503	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169342981G>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2324C>A	4.37:g.169342981G>T	ENSP00000422423:p.Ser775Tyr					DDX60L_uc003irr.1_Missense_Mutation_p.S775Y|DDX60L_uc003irs.1_Missense_Mutation_p.S502Y	p.S775Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	17	2545	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	775			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2324C>A		.	.	.	.	.	.	.	.	.	.	G	15.52	2.858480	0.51376	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	3.96	3.96	0.45880	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.37261	U	0.002165	T	0.39989	0.1099	M	0.80982	2.52	0.33579	D	0.599648	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.61417	-0.7067	10	0.87932	D	0	.	15.6106	0.76713	0.0:0.0:1.0:0.0	.	775;775;775	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	Y	775;775;775;503	ENSP00000260184:S775Y;ENSP00000422423:S775Y;ENSP00000422202:S775Y;ENSP00000421026:S503Y	ENSP00000260184:S775Y	S	-	2	0	DDX60L	169579556	1.000000	0.71417	0.982000	0.44146	0.375000	0.29983	5.813000	0.69201	1.753000	0.51906	0.467000	0.42956	TCC		PASS	0.488	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		14	162	14	162	---	---	---	---
AADAT	51166	broad.mit.edu	37	4	170989782	170989782	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:170989782T>A	ENST00000337664.4	-	8	1136	c.860A>T	c.(859-861)cAc>cTc	p.H287L	AADAT_ENST00000353187.2_Missense_Mutation_p.H287L|AADAT_ENST00000515480.1_Missense_Mutation_p.H287L|AADAT_ENST00000509167.1_Missense_Mutation_p.H291L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	287					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.H287L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		AACTTGTATGTGTAAAATAAC	0.318																																						uc003isr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)CAC>CTC		kynurenine aminotransferase II	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109.0	119.0	115.0					4																	170989782		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170989782T>A	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.860A>T	4.37:g.170989782T>A	ENSP00000336808:p.His287Leu					AADAT_uc003iss.2_Missense_Mutation_p.H287L|AADAT_uc003ist.2_Missense_Mutation_p.H291L	p.H287L	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	8	1202	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	287					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.860A>T	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737660	0.69304	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.54	5.54	0.83059	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	L	0.35593	1.075	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71656	0.94;0.974	D	0.87421	0.2382	10	0.16896	T	0.51	-23.7287	15.9925	0.80217	0.0:0.0:0.0:1.0	.	291;287	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	L	287;287;291;287	ENSP00000336808:H287L;ENSP00000423341:H287L;ENSP00000423190:H291L;ENSP00000226840:H287L	ENSP00000336808:H287L	H	-	2	0	AADAT	171226357	1.000000	0.71417	0.973000	0.42090	0.361000	0.29550	7.125000	0.77193	2.240000	0.73641	0.533000	0.62120	CAC		PASS	0.318	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		66	70	66	70	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178260984	178260984	+	Silent	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:178260984A>T	ENST00000264596.3	+	5	793	c.675A>T	c.(673-675)atA>atT	p.I225I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.I225I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TGAAAATGATACGTGATTTCA	0.358								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(673-675)ATA>ATT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							93.0	88.0	90.0					4																	178260984		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178260984A>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.675A>T	4.37:g.178260984A>T						NEIL3_uc010irs.2_Intron	p.I225I	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	5	792	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	225					Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.675A>T	CCDS3828.1																																																																																				PASS	0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		24	36	24	36	---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2748758	2748758	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:2748758G>A	ENST00000382611.6	-	3	1312	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.P355L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	355					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P355L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		ggcggccgcgggcagccccgg	0.771																																						uc003jda.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1063-1065)CCC>CTC		iroquois homeobox 2							3.0	4.0	4.0					5																	2748758		1452	3075	4527	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748758G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1064C>T	5.37:g.2748758G>A	ENSP00000372056:p.Pro355Leu					IRX2_uc003jdb.2_Missense_Mutation_p.P355L	p.P355L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1306	-			355					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.1064C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	8.484	0.860495	0.17178	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.66638	-0.22;-0.22	4.17	4.17	0.49024	.	0.115757	0.64402	D	0.000010	T	0.49795	0.1578	N	0.19112	0.55	0.46044	D	0.998834	B	0.30068	0.267	B	0.25291	0.059	T	0.47959	-0.9076	10	0.22706	T	0.39	-19.5732	15.8101	0.78552	0.0:0.0:1.0:0.0	.	355	Q9BZI1	IRX2_HUMAN	L	355	ENSP00000372056:P355L;ENSP00000307006:P355L	ENSP00000307006:P355L	P	-	2	0	IRX2	2801758	0.933000	0.31639	0.040000	0.18447	0.018000	0.09664	4.123000	0.57917	2.036000	0.60181	0.561000	0.74099	CCC		PASS	0.771	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			10	5	10	5	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7717318	7717318	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:7717318G>C	ENST00000338316.4	+	12	1760	c.1671G>C	c.(1669-1671)atG>atC	p.M557I	ADCY2_ENST00000537121.1_Missense_Mutation_p.M377I|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	557					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.M557I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGAAAGGATGATTCAAGCAA	0.284																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1669-1671)ATG>ATC		adenylate cyclase 2							105.0	113.0	110.0					5																	7717318		2203	4297	6500	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717318G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1671G>C	5.37:g.7717318G>C	ENSP00000342952:p.Met557Ile					ADCY2_uc011cmo.1_Missense_Mutation_p.M377I	p.M557I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			12	1738	+			557			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1671G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679099	0.68042	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.75477	-0.94;-0.94	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.33245	0.995	0.58432	D	0.999994	B;B	0.11235	0.002;0.004	B;B	0.17979	0.009;0.02	T	0.59392	-0.7463	10	0.29301	T	0.29	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	377;557	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	557;390;377	ENSP00000342952:M557I;ENSP00000444803:M377I	ENSP00000342952:M557I	M	+	3	0	ADCY2	7770318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.894000	0.99253	0.655000	0.94253	ATG		PASS	0.284	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		19	234	19	234	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9227044	9227044	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:9227044C>A	ENST00000382496.5	-	7	1034	c.369G>T	c.(367-369)gtG>gtT	p.V123V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	123	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.V123V(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTCGCCACCCACCAGAAGCA	0.393																																						uc003jek.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(367-369)GTG>GTT		semaphorin 5A precursor							64.0	66.0	65.0					5																	9227044		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9227044C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.369G>T	5.37:g.9227044C>A							p.V123V	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			7	1081	-			123			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.369G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236143	0.22626	.	.	ENSG00000112902	ENST00000514923	.	.	.	4.93	3.13	0.36017	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47209	-0.9135	4	.	.	.	.	6.6333	0.22869	0.1757:0.7309:0.0:0.0934	.	.	.	.	W	71	.	.	G	-	1	0	SEMA5A	9280044	0.707000	0.27866	0.892000	0.35008	0.995000	0.86356	-0.129000	0.10515	0.582000	0.29556	0.655000	0.94253	GGG		PASS	0.393	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			33	126	33	126	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629785	9629785	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:9629785C>A	ENST00000382492.2	-	1	678	c.360G>T	c.(358-360)atG>atT	p.M120I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	120					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.M120I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGGATATCCTCATCTTCAACC	0.453																																						uc003jem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(358-360)ATG>ATT		taste receptor T2R1							43.0	45.0	44.0					5																	9629785		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629785C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.360G>T	5.37:g.9629785C>A	ENSP00000371932:p.Met120Ile						p.M120I	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	679	-			120			Cytoplasmic (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.360G>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	9.622	1.134010	0.21123	.	.	ENSG00000169777	ENST00000382492	T	0.36699	1.24	5.43	4.56	0.56223	.	0.733222	0.13051	N	0.417672	T	0.33673	0.0871	M	0.62016	1.91	0.21579	N	0.999634	B	0.31077	0.307	B	0.29663	0.105	T	0.22068	-1.0227	9	.	.	.	.	7.7354	0.28810	0.0:0.7517:0.1631:0.0852	.	120	Q9NYW7	TA2R1_HUMAN	I	120	ENSP00000371932:M120I	.	M	-	3	0	TAS2R1	9682785	0.014000	0.17966	0.216000	0.23742	0.261000	0.26267	0.171000	0.16685	1.526000	0.49068	0.655000	0.94253	ATG		PASS	0.453	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			27	64	27	64	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11384826	11384826	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:11384826C>A	ENST00000304623.8	-	7	1317	c.1128G>T	c.(1126-1128)tcG>tcT	p.S376S	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.S285S|CTNND2_ENST00000359640.2_Silent_p.S376S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	376					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S376S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACAGCTCCTGCGAGTGCTTGC	0.697																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1126-1128)TCG>TCT		catenin (cadherin-associated protein), delta 2							43.0	36.0	39.0					5																	11384826		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384826C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1128G>T	5.37:g.11384826C>A						CTNND2_uc010itt.2_Silent_p.S285S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	p.S376S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			7	1273	-			376					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1128G>T	CCDS3881.1																																																																																				PASS	0.697	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		14	42	14	42	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735261	13735261	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:13735261C>T	ENST00000265104.4	-	68	11844	c.11740G>A	c.(11740-11742)Gag>Aag	p.E3914K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3914					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3914K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGAGAAACTCTTCATGCTTG	0.428									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11740-11742)GAG>AAG		dynein, axonemal, heavy chain 5							103.0	98.0	100.0					5																	13735261		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735261C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11740G>A	5.37:g.13735261C>T	ENSP00000265104:p.Glu3914Lys					DNAH5_uc003jfc.2_Missense_Mutation_p.E82K	p.E3914K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			68	11782	-	Lung NSC(4;0.00476)		3914					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11740G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749437	0.89753	.	.	ENSG00000039139	ENST00000265104	T	0.64085	-0.08	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	H	0.98333	4.205	0.80722	D	1	B	0.31879	0.344	B	0.35770	0.21	D	0.85088	0.0950	10	0.87932	D	0	.	19.6252	0.95676	0.0:1.0:0.0:0.0	.	3914	Q8TE73	DYH5_HUMAN	K	3914	ENSP00000265104:E3914K	ENSP00000265104:E3914K	E	-	1	0	DNAH5	13788261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.965000	0.70387	2.645000	0.89757	0.650000	0.86243	GAG		PASS	0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		45	163	45	163	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19544068	19544068	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:19544068C>T	ENST00000507958.1	-	11	2290	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	CDH18_ENST00000502796.1_Missense_Mutation_p.D434N|CDH18_ENST00000382275.1_Missense_Mutation_p.D434N|CDH18_ENST00000274170.4_Missense_Mutation_p.D434N|CDH18_ENST00000511273.1_Missense_Mutation_p.D434N|CDH18_ENST00000506372.1_Missense_Mutation_p.D434N			Q13634	CAD18_HUMAN	cadherin 18, type 2	434	Cadherin 4. {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.D434N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTATTGGCATCAATGTTGAAA	0.348																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1300-1302)GAT>AAT		cadherin 18, type 2 preproprotein							124.0	117.0	119.0					5																	19544068		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544068C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1300G>A	5.37:g.19544068C>T	ENSP00000425093:p.Asp434Asn					CDH18_uc003jgd.2_Missense_Mutation_p.D434N|CDH18_uc011cnm.1_Missense_Mutation_p.D434N	p.D434N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1677	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		434			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1300G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034102	0.54896	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;1.97;0.0	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.054322	0.64402	D	0.000001	T	0.67477	0.2897	N	0.21097	0.63	0.50171	D	0.999857	D;D	0.71674	0.992;0.998	D;D	0.72625	0.976;0.978	T	0.65681	-0.6109	9	.	.	.	.	17.46	0.87618	0.0:1.0:0.0:0.0	.	434;434	B4DHG6;Q13634	.;CAD18_HUMAN	N	434;434;434;434;434;434;380;434	ENSP00000371710:D434N;ENSP00000425093:D434N;ENSP00000274170:D434N;ENSP00000424931:D434N;ENSP00000422138:D434N;ENSP00000427383:D380N;ENSP00000425854:D434N	.	D	-	1	0	CDH18	19579825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.447000	0.73465	2.480000	0.83734	0.467000	0.42956	GAT		PASS	0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		84	58	84	58	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975440	21975440	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:21975440C>G	ENST00000382254.1	-	6	1372	c.286G>C	c.(286-288)Gat>Cat	p.D96H	CDH12_ENST00000522262.1_Missense_Mutation_p.D96H|CDH12_ENST00000504376.2_Missense_Mutation_p.D96H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	96	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.D96H(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						CCAGCGCCATCTCCTGAGAGG	0.478										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(286-288)GAT>CAT		cadherin 12, type 2 preproprotein							61.0	62.0	62.0					5																	21975440		2042	3875	5917	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975440C>G	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.286G>C	5.37:g.21975440C>G	ENSP00000371689:p.Asp96His	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D96H|CDH12_uc003jgk.2_Missense_Mutation_p.D96H	p.D96H	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	744	-			96			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.286G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424161	0.83667	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61627	0.09;0.09;0.09	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.044882	0.85682	D	0.000000	T	0.73923	0.3649	L	0.60067	1.865	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.81914	0.981;0.995	T	0.76691	-0.2866	10	0.87932	D	0	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	96;96	B7Z2U6;P55289	.;CAD12_HUMAN	H	96	ENSP00000423577:D96H;ENSP00000371689:D96H;ENSP00000428786:D96H	ENSP00000371689:D96H	D	-	1	0	CDH12	22011197	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GAT		PASS	0.478	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	326	6	326	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915837	26915837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:26915837C>A	ENST00000231021.4	-	3	596	c.424G>T	c.(424-426)Gaa>Taa	p.E142*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	142	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E142*(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATTCCGATTCCGGTTCCACC	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(424-426)GAA>TAA		cadherin 9, type 2 preproprotein							126.0	125.0	125.0					5																	26915837		2203	4299	6502	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915837C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.424G>T	5.37:g.26915837C>A	ENSP00000231021:p.Glu142*					CDH9_uc010iug.2_Nonsense_Mutation_p.E142*	p.E142*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	593	-			142			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.424G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986613	0.93106	.	.	ENSG00000113100	ENST00000231021	.	.	.	4.62	4.62	0.57501	.	0.120232	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4013	0.83641	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	.	E	-	1	0	CDH9	26951594	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	5.879000	0.69690	2.275000	0.75901	0.650000	0.86243	GAA		PASS	0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		279	247	279	247	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33624408	33624408	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:33624408A>T	ENST00000504830.1	-	14	2406	c.2071T>A	c.(2071-2073)Tgc>Agc	p.C691S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	691	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C691S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACACCGCAGCGATCCTCG	0.502										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2071-2073)TGC>AGC		ADAM metallopeptidase with thrombospondin type 1							103.0	81.0	88.0					5																	33624408		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624408A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2071T>A	5.37:g.33624408A>T	ENSP00000422554:p.Cys691Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.C691S	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2234	-			691			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2071T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864439	0.91511	.	.	ENSG00000151388	ENST00000504830	T	0.71103	-0.54	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92988	0.6412	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	691	P58397	ATS12_HUMAN	S	691	ENSP00000422554:C691S	ENSP00000422554:C691S	C	-	1	0	ADAMTS12	33660165	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	9.193000	0.94954	2.371000	0.80710	0.533000	0.62120	TGC		PASS	0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		61	58	61	58	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938175	33938175	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:33938175G>T	ENST00000330120.3	+	1	1685	c.1330G>T	c.(1330-1332)Gac>Tac	p.D444Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	444					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.D444Y(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						cgcggAGCCGGACCTGCTCTA	0.711																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1330-1332)GAC>TAC		relaxin/insulin-like family peptide receptor 3							14.0	17.0	16.0					5																	33938175		2176	4245	6421	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938175G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1330G>T	5.37:g.33938175G>T	ENSP00000328708:p.Asp444Tyr						p.D444Y	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1687	+			444			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1330G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299953	0.40694	.	.	ENSG00000182631	ENST00000330120	T	0.71817	-0.6	5.64	5.64	0.86602	.	0.088634	0.42548	D	0.000684	T	0.66127	0.2758	N	0.24115	0.695	0.47183	D	0.999342	D	0.56287	0.975	P	0.46629	0.522	T	0.70619	-0.4822	10	0.62326	D	0.03	-19.2754	19.6996	0.96048	0.0:0.0:1.0:0.0	.	444	Q9NSD7	RL3R1_HUMAN	Y	444	ENSP00000328708:D444Y	ENSP00000328708:D444Y	D	+	1	0	RXFP3	33973932	0.998000	0.40836	0.941000	0.38009	0.246000	0.25737	5.197000	0.65141	2.646000	0.89796	0.655000	0.94253	GAC		PASS	0.711	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		34	37	34	37	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35966004	35966004	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:35966004G>A	ENST00000274278.3	-	4	684	c.327C>T	c.(325-327)gcC>gcT	p.A109A	UGT3A1_ENST00000333811.4_Silent_p.A55A|UGT3A1_ENST00000503189.1_Silent_p.A109A|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.A75A	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	109						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.A109A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTTACAAGGGCTTCAGATT	0.279																																						uc003jjv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(325-327)GCC>GCT		UDP glycosyltransferase 3 family, polypeptide A1							26.0	27.0	27.0					5																	35966004		2161	4169	6330	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35966004G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.327C>T	5.37:g.35966004G>A						UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.A109A|UGT3A1_uc011cor.1_Silent_p.A75A|UGT3A1_uc003jjy.1_Silent_p.A55A	p.A109A	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	484	-	all_lung(31;0.000197)		109			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.327C>T	CCDS3913.1																																																																																				PASS	0.279	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		47	56	47	56	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407204	38407204	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:38407204G>A	ENST00000354891.3	+	8	1449	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R134Q|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R368Q|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	368	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R368Q(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGGGCTCGCGATGCCAGTGC	0.552																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(1102-1104)CGA>CAA		EGF-like, fibronectin type III and laminin G							52.0	53.0	52.0					5																	38407204		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407204G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1103G>A	5.37:g.38407204G>A	ENSP00000346964:p.Arg368Gln					EGFLAM_uc003jlb.1_Missense_Mutation_p.R368Q|EGFLAM_uc003jle.1_Missense_Mutation_p.R134Q|EGFLAM_uc003jlf.1_Intron	p.R368Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			8	1427	+	all_lung(31;0.000385)		368			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1103G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003500	0.74932	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79033	-1.23;-1.23;-1.23	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.061363	0.64402	D	0.000002	T	0.75347	0.3837	L	0.49350	1.555	0.80722	D	1	P;P;P	0.49635	0.468;0.593;0.926	B;B;P	0.45310	0.04;0.055;0.476	T	0.76503	-0.2935	10	0.48119	T	0.1	-0.7981	13.0662	0.59034	0.0733:0.0:0.9267:0.0	.	134;368;368	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Q	368;368;134;134	ENSP00000346964:R368Q;ENSP00000313084:R368Q;ENSP00000337607:R134Q	ENSP00000313084:R368Q	R	+	2	0	EGFLAM	38442961	1.000000	0.71417	0.238000	0.24106	0.970000	0.65996	6.043000	0.71004	2.685000	0.91497	0.655000	0.94253	CGA		PASS	0.552	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		15	104	15	104	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38458495	38458495	+	Splice_Site	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:38458495A>C	ENST00000354891.3	+	21	3140	c.2794A>C	c.(2794-2796)Agg>Cgg	p.R932R	EGFLAM_ENST00000336740.6_Splice_Site_p.R690R|EGFLAM_ENST00000506135.1_Splice_Site_p.R67R|EGFLAM_ENST00000514476.1_Splice_Site_p.R67R|EGFLAM_ENST00000322350.5_Splice_Site_p.R924R|EGFLAM_ENST00000397202.2_Splice_Site_p.R290R|EGFLAM_ENST00000397210.3_Splice_Site_p.R67R|CTD-2263F21.1_ENST00000510469.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	932	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R924R(1)|p.R932R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TAAGGCCGTTAGGTGAGTCCC	0.557																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(2794-2796)AGG>CGG		EGF-like, fibronectin type III and laminin G							121.0	106.0	111.0					5																	38458495		2203	4300	6503	SO:0001630	splice_region_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38458495A>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2795+1A>C	5.37:g.38458495A>C						EGFLAM_uc003jlb.1_Silent_p.R924R|EGFLAM_uc003jle.1_Silent_p.R690R|EGFLAM_uc003jlf.1_Silent_p.R290R|EGFLAM_uc003jlg.1_Silent_p.R67R	p.R932R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			21	3118	+	all_lung(31;0.000385)		932			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2794A>C	CCDS56363.1																																																																																				PASS	0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	Silent	35	64	35	64	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39110483	39110483	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:39110483C>A	ENST00000351578.6	-	16	2462	c.2272G>T	c.(2272-2274)Gtc>Ttc	p.V758F	FYB_ENST00000505428.1_Missense_Mutation_p.V804F|FYB_ENST00000515010.1_Missense_Mutation_p.V758F|FYB_ENST00000512982.1_Missense_Mutation_p.V804F|FYB_ENST00000540520.1_Missense_Mutation_p.V814F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	758					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.V758F(2)|p.V814F(1)|p.V804F(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTCCGAAGGACATAACCATCT	0.299																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2272-2274)GTC>TTC		FYN binding protein (FYB-120/130) isoform 2							50.0	48.0	48.0					5																	39110483		1803	4074	5877	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39110483C>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2272G>T	5.37:g.39110483C>A	ENSP00000316460:p.Val758Phe					FYB_uc003jlt.2_Missense_Mutation_p.V804F|FYB_uc003jlu.2_Missense_Mutation_p.V758F|FYB_uc011cpl.1_Missense_Mutation_p.V814F	p.V758F	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		15	2339	-	all_lung(31;0.000343)		758					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.2272G>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006513	0.54361	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520	T;T;T;T;T	0.48522	0.84;0.84;0.81;0.81;0.83	4.8	4.8	0.61643	Src homology-3 domain (1);	0.000000	0.64402	D	0.000005	T	0.67268	0.2875	M	0.82323	2.585	0.45490	D	0.998453	D;D	0.65815	0.979;0.995	P;P	0.61533	0.692;0.89	T	0.72472	-0.4283	10	0.87932	D	0	-4.955	13.5358	0.61646	0.0:1.0:0.0:0.0	.	814;758	B4DLN2;O15117	.;FYB_HUMAN	F	758;758;804;804;814	ENSP00000316460:V758F;ENSP00000426346:V758F;ENSP00000425845:V804F;ENSP00000427114:V804F;ENSP00000442840:V814F	ENSP00000316460:V758F	V	-	1	0	FYB	39146240	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	3.946000	0.56644	2.637000	0.89404	0.563000	0.77884	GTC		PASS	0.299	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		25	43	25	43	---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40681542	40681542	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:40681542C>T	ENST00000302472.3	+	2	1471	c.447C>T	c.(445-447)ctC>ctT	p.L149L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	149					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.L149L(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCAACGTGCTCTTTTGCGCGC	0.602											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(445-447)CTC>CTT		prostaglandin E receptor 4, subtype EP4							91.0	90.0	90.0					5																	40681542		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681542C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.447C>T	5.37:g.40681542C>T			OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.L149L	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1039	+			149			Helical; Name=4; (Potential).		Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.447C>T	CCDS3930.1																																																																																				PASS	0.602	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		77	165	77	165	---	---	---	---
C7	730	broad.mit.edu	37	5	40947703	40947703	+	Splice_Site	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:40947703G>T	ENST00000313164.9	+	8	1097		c.e8-1			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.?(1)					Ovarian(839;0.0112)				TCTTTCCACAGAGTTACCAAC	0.398																																						uc003jmh.2																			1	Unknown(1)		lung(1)		0						c.e8-1		complement component 7 precursor							46.0	45.0	45.0					5																	40947703		1851	4103	5954	SO:0001630	splice_region_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947703G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.739-1G>T	5.37:g.40947703G>T						C7_uc011cpn.1_Intron	p.S247_splice	NM_000587	NP_000578	P10643	CO7_HUMAN			8	853	+		Ovarian(839;0.0112)						Q6P3T5|Q92489	Splice_Site	SNP	ENST00000313164.9	37	c.739_splice	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879696	0.51801	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4666	0.90758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7	40983460	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	7.833000	0.86765	2.786000	0.95864	0.650000	0.86243	.		PASS	0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		Intron	23	35	23	35	---	---	---	---
C6	729	broad.mit.edu	37	5	41181509	41181509	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:41181509G>T	ENST00000263413.3	-	7	1143	c.879C>A	c.(877-879)atC>atA	p.I293I	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.I293I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	293	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.I293I(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATTATGGTTGATATTTTCAC	0.358																																						uc003jmk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(877-879)ATC>ATA		complement component 6 precursor							112.0	113.0	113.0					5																	41181509		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181509G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.879C>A	5.37:g.41181509G>T						C6_uc003jml.1_Silent_p.I293I	p.I293I	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1089	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	293			MACPF.			Silent	SNP	ENST00000263413.3	37	c.879C>A	CCDS3936.1																																																																																				PASS	0.358	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			59	130	59	130	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388623	44388623	+	Silent	SNP	G	G	T	rs202211960		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:44388623G>T	ENST00000264664.4	-	1	276	c.162C>A	c.(160-162)tcC>tcA	p.S54S	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	54	Poly-Ser.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.S54S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGAAGGAGGAGGAAGAAGAGT	0.542																																						uc003jog.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(160-162)TCC>TCA		fibroblast growth factor 10 precursor							57.0	56.0	56.0					5																	44388623		2203	4300	6503	SO:0001819	synonymous_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388623G>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.162C>A	5.37:g.44388623G>T							p.S54S	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	162	-	Lung NSC(6;1.12e-06)		54			Poly-Ser.		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.162C>A	CCDS3950.1																																																																																				PASS	0.542	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		43	45	43	45	---	---	---	---
CCNO	10309	broad.mit.edu	37	5	54528254	54528254	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:54528254T>A	ENST00000282572.4	-	2	658	c.502A>T	c.(502-504)Acg>Tcg	p.T168S	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	168					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)	p.T168S(1)		endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GCCACCGGCGTGGTGGTGAGG	0.602																																						uc003jpw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)ACG>TCG		cyclin domain containing							87.0	71.0	77.0					5																	54528254		2203	4300	6503	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54528254T>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.502A>T	5.37:g.54528254T>A	ENSP00000282572:p.Thr168Ser					CCNO_uc003jpv.2_RNA	p.T168S	NM_021147	NP_066970	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		2	659	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	168					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.502A>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854067	0.71719	.	.	ENSG00000152669	ENST00000282572	T	0.10763	2.84	5.3	5.3	0.74995	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35288	1.05	0.42362	D	0.992412	B	0.31413	0.322	B	0.30029	0.11	T	0.20338	-1.0278	10	0.30854	T	0.27	.	14.9059	0.70718	0.0:0.0:0.0:1.0	.	168	P22674	CCNO_HUMAN	S	168	ENSP00000282572:T168S	ENSP00000282572:T168S	T	-	1	0	CCNO	54564011	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.093000	0.71422	2.012000	0.59069	0.459000	0.35465	ACG		PASS	0.602	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		37	29	37	29	---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60195503	60195503	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:60195503C>G	ENST00000265038.5	-	8	711	c.669G>C	c.(667-669)ttG>ttC	p.L223F	ERCC8_ENST00000426742.2_Missense_Mutation_p.L165F|ERCC8_ENST00000543101.1_Missense_Mutation_p.L70F|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	223					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.L223F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CAAGAGTAATCAAACATCCTG	0.328																																						uc003jsm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)TTG>TTC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							179.0	174.0	176.0					5																	60195503		2203	4300	6503	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60195503C>G	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.669G>C	5.37:g.60195503C>G	ENSP00000265038:p.Leu223Phe					ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.L165F|ERCC8_uc011cqp.1_Missense_Mutation_p.L70F	p.L223F	NM_000082	NP_000073	Q13216	ERCC8_HUMAN			8	739	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	223					B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.669G>C	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283682	0.40394	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	D;D;D	0.82893	-1.66;-1.66;-1.66	5.3	2.45	0.29901	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84844	0.5562	L	0.52266	1.64	0.58432	D	0.999997	D;D	0.89917	1.0;0.985	D;P	0.81914	0.995;0.533	T	0.80647	-0.1289	10	0.36615	T	0.2	-17.0383	5.529	0.16974	0.1346:0.6368:0.0:0.2286	.	70;223	B4DGZ9;Q13216	.;ERCC8_HUMAN	F	165;223;70;222	ENSP00000400110:L165F;ENSP00000265038:L223F;ENSP00000441732:L70F	ENSP00000265038:L223F	L	-	3	2	ERCC8	60231260	0.990000	0.36364	0.998000	0.56505	0.910000	0.53928	0.379000	0.20585	0.578000	0.29487	-0.143000	0.13931	TTG		PASS	0.328	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		29	126	29	126	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257310	63257310	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:63257310C>T	ENST00000323865.3	-	1	470	c.237G>A	c.(235-237)gcG>gcA	p.A79A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	79					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A79A(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTCGGTGACCGCCAAAGAGC	0.597																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(235-237)GCG>GCA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						43.0	49.0	47.0					5																	63257310		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257310C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.237G>A	5.37:g.63257310C>T							p.A79A	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	237	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	79			Helical; Name=2; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.237G>A	CCDS34168.1																																																																																				PASS	0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		3	25	3	25	---	---	---	---
ANKRA2	57763	broad.mit.edu	37	5	72850214	72850214	+	Splice_Site	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:72850214C>T	ENST00000296785.3	-	7	1397		c.e7-1			NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2							cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTCCTCCATTCTGCAAAATGA	0.343																																						uc003kcu.1																			1	Unknown(1)		lung(1)		0						c.e7-1		ankyrin repeat, family A (RFXANK-like), 2							92.0	86.0	88.0					5																	72850214		2203	4300	6503	SO:0001630	splice_region_variant	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72850214C>T	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.739-1G>A	5.37:g.72850214C>T							p.N247_splice	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	7	1385	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)							Splice_Site	SNP	ENST00000296785.3	37	c.739_splice	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228057	0.79576	.	.	ENSG00000164331	ENST00000296785	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRA2	72885970	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.398000	0.79919	2.873000	0.98535	0.563000	0.77884	.		PASS	0.343	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	Intron	6	60	6	60	---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77334916	77334916	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:77334916C>T	ENST00000255194.6	-	23	2935	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Silent_p.G871G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	920					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.G920G(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)		GTTTTTTTTCCCCTATGTGGA	0.294									Hermansky-Pudlak syndrome																													uc003kfj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2758-2760)GGG>GGA		adaptor-related protein complex 3, beta 1							105.0	100.0	102.0					5																	77334916		2203	4299	6502	SO:0001819	synonymous_variant	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.chr5:77334916C>T	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.2760G>A	5.37:g.77334916C>T							p.G920G	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)	23	2885	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	920					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.2760G>A	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316875	0.10845	.	.	ENSG00000132842	ENST00000522901	.	.	.	5.46	-0.121	0.13535	.	0.502468	0.20925	N	0.083218	T	0.15262	0.0368	.	.	.	0.35949	D	0.833799	.	.	.	.	.	.	T	0.27839	-1.0062	6	0.02654	T	1	-3.2076	1.1525	0.01789	0.2076:0.3403:0.1085:0.3436	.	.	.	.	E	20	.	ENSP00000429228:G20E	G	-	2	0	AP3B1	77370672	0.000000	0.05858	0.356000	0.25785	0.837000	0.47467	-1.481000	0.02323	0.254000	0.21573	0.591000	0.81541	GGG		PASS	0.294	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			35	32	35	32	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90459686	90459686	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:90459686G>T	ENST00000405460.2	+	90	18986	c.18890G>T	c.(18889-18891)aGg>aTg	p.R6297M	GPR98_ENST00000425867.2_Missense_Mutation_p.R1958M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6297					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R6297M(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGGAGCTCAGGAGGATACCC	0.502																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18889-18891)AGG>ATG		G protein-coupled receptor 98 precursor							40.0	45.0	44.0					5																	90459686		1970	4161	6131	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90459686G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18890G>T	5.37:g.90459686G>T	ENSP00000384582:p.Arg6297Met					GPR98_uc003kjt.2_Missense_Mutation_p.R4003M|GPR98_uc003kjw.2_Missense_Mutation_p.R1958M|GPR98_uc003kjx.2_Missense_Mutation_p.R325M	p.R6297M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	90	18986	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6297			Cytoplasmic (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18890G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366441	0.82463	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.59224	0.28;0.3	5.73	4.86	0.63082	.	0.047186	0.85682	N	0.000000	T	0.58250	0.2109	M	0.69823	2.125	0.58432	D	0.999995	D;D;D	0.57571	0.966;0.966;0.98	B;B;B	0.41571	0.197;0.197;0.36	T	0.63449	-0.6635	9	.	.	.	.	16.1679	0.81785	0.0:0.0:0.8656:0.1344	.	1958;6297;1958	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	6297;6297;1958	ENSP00000384582:R6297M;ENSP00000392618:R1958M	.	R	+	2	0	GPR98	90495442	1.000000	0.71417	0.444000	0.26895	0.963000	0.63663	7.411000	0.80078	1.402000	0.46780	0.655000	0.94253	AGG		PASS	0.502	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		9	10	9	10	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101597671	101597671	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:101597671C>G	ENST00000310954.6	-	5	1252	c.966G>C	c.(964-966)tgG>tgC	p.W322C		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.W322C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGCAAAGATCCATGATAGAA	0.363																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(964-966)TGG>TGC		solute carrier organic anion transporter family,							105.0	104.0	104.0					5																	101597671		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101597671C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.966G>C	5.37:g.101597671C>G	ENSP00000309741:p.Trp322Cys						p.W322C	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	5	1253	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	322			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.966G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231058	0.22626	.	.	ENSG00000173930	ENST00000310954	T	0.38240	1.15	5.82	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.304651	0.29508	N	0.011953	T	0.31263	0.0791	L	0.44542	1.39	0.32999	D	0.526008	B	0.02656	0.0	B	0.15052	0.012	T	0.39187	-0.9626	10	0.56958	D	0.05	.	10.6317	0.45541	0.14:0.5056:0.3544:0.0	.	322	Q6ZQN7	SO4C1_HUMAN	C	322	ENSP00000309741:W322C	ENSP00000309741:W322C	W	-	3	0	SLCO4C1	101625570	0.411000	0.25384	0.616000	0.29078	0.988000	0.76386	0.818000	0.27295	1.434000	0.47414	0.585000	0.79938	TGG		PASS	0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		15	53	15	53	---	---	---	---
PDLIM4	8572	broad.mit.edu	37	5	131607158	131607158	+	Splice_Site	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:131607158C>T	ENST00000253754.3	+	5	733	c.669C>T	c.(667-669)ggC>ggT	p.G223G	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Splice_Site_p.G223G|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	223							zinc ion binding (GO:0008270)	p.G223G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGCGAGGGCGGTAAGACGC	0.692																																						uc003kwn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(667-669)GGC>GGT		PDZ and LIM domain 4 isoform 1							22.0	31.0	28.0					5																	131607158		2201	4299	6500	SO:0001630	splice_region_variant	8572						protein binding|zinc ion binding	g.chr5:131607158C>T	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.670+1C>T	5.37:g.131607158C>T						uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Silent_p.G223G|PDLIM4_uc003kwo.2_Silent_p.G223G	p.G223G	NM_003687	NP_003678	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	746	+			223					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	c.669C>T	CCDS4152.1																																																																																				PASS	0.692	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687	Silent	24	18	24	18	---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138717664	138717664	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:138717664G>T	ENST00000348729.3	-	3	271	c.225C>A	c.(223-225)gaC>gaA	p.D75E	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.D75E	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	75				DQHMVS -> SQTLHC (in Ref. 1; AAC78804). {ECO:0000305}.	brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.D75E(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCATGTGCTGGTCGTGGCCCA	0.632																																						uc003leh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAC>GAA		solute carrier family 23 (nucleobase	Vitamin C(DB00126)						96.0	67.0	77.0					5																	138717664		2200	4300	6500	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138717664G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.225C>A	5.37:g.138717664G>T	ENSP00000302701:p.Asp75Glu					SLC23A1_uc003leg.2_Missense_Mutation_p.D75E	p.D75E	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	322	-			75	DQHMVS -> SQTLHC (in Ref. 1; AAC78804).				O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.225C>A	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470094	0.63625	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881;ENST00000453898;ENST00000508270	T;T	0.19105	2.19;2.17	4.82	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.58510	1.815	0.50313	D	0.999867	D;P	0.89917	1.0;0.542	D;P	0.97110	1.0;0.45	T	0.09509	-1.0671	10	0.39692	T	0.17	-1.6717	11.1509	0.48458	0.1779:0.0:0.8221:0.0	.	75;75	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	E	75;75;75;75;149	ENSP00000302851:D75E;ENSP00000302701:D75E	ENSP00000343584:D75E	D	-	3	2	SLC23A1	138745563	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.314000	0.43743	1.251000	0.43983	0.448000	0.29417	GAC		PASS	0.632	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		8	4	8	4	---	---	---	---
HBEGF	1839	broad.mit.edu	37	5	139722236	139722236	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:139722236G>A	ENST00000230990.6	-	3	684	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	HBEGF_ENST00000507104.1_Missense_Mutation_p.R128W	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	128	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R128W(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGAGCCCGGAGCTCCTTC	0.517																																						uc003lfi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)CGG>TGG		heparin-binding EGF-like growth factor							191.0	188.0	189.0					5																	139722236		2203	4300	6503	SO:0001583	missense	1839				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity	g.chr5:139722236G>A		CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"""Diphtheria toxin receptor (heparin-binding EGF-like growth factor)"", ""heparin-binding epidermal growth factor"""	126150	"""diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"""	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.382C>T	5.37:g.139722236G>A	ENSP00000230990:p.Arg128Trp					HBEGF_uc010jfj.2_RNA	p.R128W	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	657	-			128			Extracellular (Potential).|EGF-like.		B2R821	Missense_Mutation	SNP	ENST00000230990.6	37	c.382C>T	CCDS4223.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716567	0.68844	.	.	ENSG00000113070	ENST00000230990;ENST00000507104	T;T	0.14893	2.47;2.47	5.53	4.6	0.57074	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.113137	0.64402	D	0.000008	T	0.31420	0.0796	L	0.50333	1.59	0.45837	D	0.998707	D	0.89917	1.0	D	0.74348	0.983	T	0.01081	-1.1458	10	0.72032	D	0.01	0.043	8.5693	0.33558	0.0:0.1373:0.5388:0.3238	.	128	Q99075	HBEGF_HUMAN	W	128	ENSP00000230990:R128W;ENSP00000425696:R128W	ENSP00000230990:R128W	R	-	1	2	HBEGF	139702420	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.987000	0.49378	2.764000	0.94973	0.555000	0.69702	CGG		PASS	0.517	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251665.2	NM_001945		153	113	153	113	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056274	140056274	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140056274C>G	ENST00000504156.1	-	10	1878	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	HARS_ENST00000415192.2_Missense_Mutation_p.E313Q|HARS_ENST00000504366.1_Missense_Mutation_p.E318Q|HARS_ENST00000457527.2_Missense_Mutation_p.E367Q|HARS_ENST00000307633.3_Missense_Mutation_p.E327Q|HARS_ENST00000448240.1_Missense_Mutation_p.E192Q|HARS_ENST00000431330.2_Missense_Mutation_p.E273Q|HARS_ENST00000438307.2_Missense_Mutation_p.E347Q	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	387					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.E387Q(1)|p.E277Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AAAATCCGCTCCACCCCAATG	0.562																																						uc003lgv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1159-1161)GAG>CAG		histidyl-tRNA synthetase	L-Histidine(DB00117)						137.0	134.0	135.0					5																	140056274		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056274C>G	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1159G>C	5.37:g.140056274C>G	ENSP00000425634:p.Glu387Gln					HARS_uc003lgu.2_Missense_Mutation_p.E318Q|HARS_uc011czm.1_Missense_Mutation_p.E347Q|HARS_uc003lgw.2_Missense_Mutation_p.E367Q|HARS_uc011czn.1_Missense_Mutation_p.E327Q|HARS_uc010jfu.2_Missense_Mutation_p.E387Q|HARS_uc011czo.1_Missense_Mutation_p.E313Q|HARS_uc011czp.1_Missense_Mutation_p.E273Q|HARS_uc011czq.1_Missense_Mutation_p.E277Q	p.E387Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1241	-			387					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1159G>C	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110692	0.77210	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	H	0.98048	4.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.996;0.998;0.998;0.985	D;D;D;D;D;D;D;D	0.83275	0.996;0.993;0.993;0.964;0.964;0.986;0.964;0.921	D	0.93463	0.6812	10	0.72032	D	0.01	-5.3317	20.0627	0.97684	0.0:1.0:0.0:0.0	.	277;273;313;327;347;387;367;387	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	Q	387;367;273;318;327;192;347;313;277	ENSP00000425634:E387Q;ENSP00000387893:E367Q;ENSP00000393244:E273Q;ENSP00000430063:E318Q;ENSP00000304668:E327Q;ENSP00000413605:E192Q;ENSP00000411511:E347Q;ENSP00000411085:E313Q;ENSP00000425889:E277Q	ENSP00000304668:E327Q	E	-	1	0	HARS	140036458	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.625000	0.83145	2.816000	0.96949	0.563000	0.77884	GAG		PASS	0.562	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		11	221	11	221	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516142	140516142	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140516142G>A	ENST00000231134.5	+	1	1343	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	376	Cadherin 4. {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.D376N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACTCCGGGGACAACGGTAG	0.493																																						uc003liq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1126-1128)GAC>AAC		protocadherin beta 5 precursor							80.0	84.0	82.0					5																	140516142		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516142G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1126G>A	5.37:g.140516142G>A	ENSP00000231134:p.Asp376Asn						p.D376N	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1343	+			376			Cadherin 4.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1126G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	7.325	0.617667	0.14129	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.52754	0.65	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42966	0.1226	L	0.37897	1.145	0.29770	N	0.834813	B	0.10296	0.003	B	0.17722	0.019	T	0.31280	-0.9949	9	0.31617	T	0.26	.	18.5329	0.90999	0.0:0.0:1.0:0.0	.	376	Q9Y5E4	PCDB5_HUMAN	N	376;160	ENSP00000231134:D376N	ENSP00000231134:D376N	D	+	1	0	PCDHB5	140496326	0.001000	0.12720	0.991000	0.47740	0.448000	0.32197	1.108000	0.31123	2.459000	0.83118	0.555000	0.69702	GAC		PASS	0.493	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		57	36	57	36	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590553	140590553	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140590553G>C	ENST00000239450.2	+	1	2263	c.2074G>C	c.(2074-2076)Gtg>Ctg	p.V692L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V355L|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	692					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.V692L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCTGGTGGTGGCGTTGGC	0.706																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2074-2076)GTG>CTG		protocadherin beta 12 precursor							82.0	85.0	84.0					5																	140590553		2203	4297	6500	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590553G>C	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2074G>C	5.37:g.140590553G>C	ENSP00000239450:p.Val692Leu					PCDHB12_uc011dak.1_Missense_Mutation_p.V355L|PCDHB13_uc003lja.1_5'Flank	p.V692L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2263	+			692			Helical; (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2074G>C	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	g	9.423	1.083602	0.20309	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.14516	2.5;2.5	3.77	-3.63	0.04529	.	.	.	.	.	T	0.17492	0.0420	M	0.74467	2.265	0.09310	N	1	B	0.25206	0.12	B	0.31245	0.126	T	0.39482	-0.9612	9	0.72032	D	0.01	.	9.0518	0.36380	0.7344:0.1266:0.139:0.0	.	692	Q9Y5F1	PCDBC_HUMAN	L	355;692;312	ENSP00000440199:V355L;ENSP00000239450:V692L	ENSP00000239450:V692L	V	+	1	0	PCDHB12	140570737	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.567000	0.05916	-0.748000	0.04753	-0.361000	0.07541	GTG		PASS	0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		135	103	135	103	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720617	140720617	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140720617G>T	ENST00000394576.2	+	1	2079	c.2079G>T	c.(2077-2079)ctG>ctT	p.L693L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	693					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L693L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTACCTGGTGGTGGCGG	0.677																																						uc003ljk.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(2077-2079)CTG>CTT		protocadherin gamma subfamily A, 2 isoform 1							102.0	109.0	107.0					5																	140720617		2203	4298	6501	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720617G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2079G>T	5.37:g.140720617G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.L693L|PCDHGA3_uc011dap.1_5'Flank	p.L693L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2264	+			693			Helical; (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2079G>T	CCDS47289.1																																																																																				PASS	0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		83	85	83	85	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724255	140724255	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140724255G>C	ENST00000253812.6	+	1	655	c.655G>C	c.(655-657)Gac>Cac	p.D219H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D219H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGGTGGCGACCCTGTCCA	0.537																																						uc003ljm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(655-657)GAC>CAC		protocadherin gamma subfamily A, 3 isoform 1							46.0	48.0	47.0					5																	140724255		2196	4298	6494	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724255G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.655G>C	5.37:g.140724255G>C	ENSP00000253812:p.Asp219His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D219H	p.D219H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	655	+			219			Extracellular (Potential).|Cadherin 2.		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.655G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.34	1.609346	0.28623	.	.	ENSG00000254245	ENST00000253812	T	0.01787	4.64	5.65	1.69	0.24217	Cadherin (3);Cadherin-like (1);	0.540328	0.13178	U	0.407724	T	0.05960	0.0155	M	0.67700	2.07	0.09310	N	1	P;D	0.71674	0.717;0.998	B;P	0.62435	0.415;0.902	T	0.28681	-1.0036	10	0.56958	D	0.05	.	5.9076	0.19010	0.28:0.127:0.593:0.0	.	219;219	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	219	ENSP00000253812:D219H	ENSP00000253812:D219H	D	+	1	0	PCDHGA3	140704439	0.000000	0.05858	0.625000	0.29200	0.753000	0.42808	0.516000	0.22817	0.430000	0.26230	-0.136000	0.14681	GAC		PASS	0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		41	26	41	26	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735547	140735547	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:140735547G>T	ENST00000571252.1	+	1	780	c.780G>T	c.(778-780)cgG>cgT	p.R260R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCACTCGGCTACTCACCG	0.463																																						uc003ljq.1																			0					0						c.(778-780)CGG>CGT		protocadherin gamma subfamily A, 4 isoform 1							36.0	39.0	38.0					5																	140735547		2017	4176	6193	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735547G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.780G>T	5.37:g.140735547G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R260R	p.R260R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	780	+			260			Cadherin 3.|Extracellular (Potential).		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.780G>T	CCDS58979.1																																																																																				PASS	0.463	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		19	14	19	14	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150928976	150928976	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:150928976G>C	ENST00000261800.5	-	8	4681	c.4669C>G	c.(4669-4671)Cag>Gag	p.Q1557E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1557	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1557E(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATGGAGCTGAGTGAAGCGG	0.572																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4669-4671)CAG>GAG		FAT tumor suppressor 2 precursor							79.0	71.0	73.0					5																	150928976		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150928976G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4669C>G	5.37:g.150928976G>C	ENSP00000261800:p.Gln1557Glu					GM2A_uc011dcs.1_Intron	p.Q1557E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4682	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1557			Extracellular (Potential).|Cadherin 14.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4669C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446587	0.25987	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	4.66	3.71	0.42584	Cadherin (2);Cadherin-like (1);	0.376324	0.21691	N	0.070571	T	0.44932	0.1317	L	0.51422	1.61	0.27002	N	0.96489	B	0.32040	0.353	B	0.24848	0.056	T	0.26950	-1.0088	10	0.16896	T	0.51	.	10.6846	0.45835	0.0:0.0:0.6124:0.3876	.	1557	Q9NYQ8	FAT2_HUMAN	E	1557	ENSP00000261800:Q1557E	ENSP00000261800:Q1557E	Q	-	1	0	FAT2	150909169	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	2.236000	0.43052	2.289000	0.77006	0.561000	0.74099	CAG		PASS	0.572	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		31	23	31	23	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154311721	154311721	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:154311721G>C	ENST00000285873.7	-	4	674	c.599C>G	c.(598-600)tCc>tGc	p.S200C		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	200					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.S200C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGGCTATGGAGTGGATTTC	0.408																																						uc003lvx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(598-600)TCC>TGC		gemin 5							143.0	141.0	141.0					5																	154311721		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154311721G>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.599C>G	5.37:g.154311721G>C	ENSP00000285873:p.Ser200Cys					GEMIN5_uc011ddk.1_Missense_Mutation_p.S200C	p.S200C	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	682	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	200			WD 4.		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.599C>G	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321713	0.41096	.	.	ENSG00000082516	ENST00000285873	T	0.59906	0.23	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118364	0.64402	D	0.000014	T	0.42494	0.1205	N	0.13198	0.31	0.42535	D	0.993056	B;B	0.22541	0.071;0.071	B;B	0.23574	0.047;0.047	T	0.33394	-0.9870	10	0.40728	T	0.16	-14.7437	14.7564	0.69567	0.0:0.2563:0.7436:0.0	.	200;200	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	C	200	ENSP00000285873:S200C	ENSP00000285873:S200C	S	-	2	0	GEMIN5	154291914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.942000	0.56614	2.542000	0.85734	0.650000	0.86243	TCC		PASS	0.408	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			48	136	48	136	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156021941	156021941	+	Splice_Site	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:156021941G>T	ENST00000435422.3	+	5	866		c.e5-1		SGCD_ENST00000337851.4_Splice_Site|SGCD_ENST00000447401.1_Splice_Site|SGCD_ENST00000517913.1_Splice_Site	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)						muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			atatctctcAGGTCCAAAAGC	0.388																																						uc003lwd.3																			1	Unknown(1)		lung(1)		0						c.e5-1		delta-sarcoglycan isoform 3							43.0	41.0	41.0					5																	156021941		1814	4072	5886	SO:0001630	splice_region_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156021941G>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.380-1G>T	5.37:g.156021941G>T						SGCD_uc003lwa.1_Splice_Site_p.G128_splice|SGCD_uc003lwb.2_Splice_Site_p.G128_splice|SGCD_uc003lwc.3_Splice_Site_p.G128_splice	p.G127_splice	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	856	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)						A8K9S9|Q53XA5|Q99644	Splice_Site	SNP	ENST00000435422.3	37	c.380_splice	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465506	0.63513	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGCD	155954519	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.327000	0.79147	2.708000	0.92522	0.650000	0.86243	.		PASS	0.388	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3		Intron	14	6	14	6	---	---	---	---
PANK3	79646	broad.mit.edu	37	5	167991022	167991022	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:167991022A>G	ENST00000239231.6	-	4	1000	c.684T>C	c.(682-684)tgT>tgC	p.C228C	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	228					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.C228C(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAAAACTTTCACAGCCAGTCA	0.383																																						uc003lzz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(682-684)TGT>TGC		pantothenate kinase 3							129.0	144.0	139.0					5																	167991022		2203	4300	6503	SO:0001819	synonymous_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167991022A>G	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.684T>C	5.37:g.167991022A>G							p.C228C	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	4	984	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	228					D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	c.684T>C	CCDS4368.1																																																																																				PASS	0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		78	190	78	190	---	---	---	---
PDLIM7	9260	broad.mit.edu	37	5	176911113	176911113	+	Silent	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:176911113T>G	ENST00000355841.2	-	11	1195	c.1129A>C	c.(1129-1131)Agg>Cgg	p.R377R	PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000359895.2_Silent_p.R343R	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	377	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.R377R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TAGAAGGCCCTGTTCCGGATG	0.607																																						uc003mhc.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1129-1131)AGG>CGG		PDZ and LIM domain 7 isoform 1							133.0	108.0	117.0					5																	176911113		2203	4300	6503	SO:0001819	synonymous_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176911113T>G	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1129A>C	5.37:g.176911113T>G						PDLIM7_uc003mha.1_Silent_p.R271R|PDLIM7_uc003mhb.1_Silent_p.R343R|PDLIM7_uc003mhd.1_Silent_p.R229R|PDLIM7_uc003mhe.1_RNA	p.R377R	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1214	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	377			LIM zinc-binding 2.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	c.1129A>C	CCDS4422.1																																																																																				PASS	0.607	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		71	47	71	47	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176931332	176931332	+	Silent	SNP	G	G	A	rs199711375		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr5:176931332G>A	ENST00000357198.4	-	6	1147	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	DOK3_ENST00000501403.2_Silent_p.Y325Y|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|RP11-1334A24.6_ENST00000506025.1_RNA	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	381					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Y381Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACACTGAAGCGTAGAGCCCGG	0.662																																						uc003mhk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1141-1143)TAC>TAT		docking protein 3 isoform 1			,,	1,4397		0,1,2198	18.0	21.0	20.0		,,1143	-3.2	0.1	5		20	0,8596		0,0,4298	yes	intron,intron,coding-synonymous	DOK3	NM_001144875.1,NM_001144876.1,NM_024872.2	,,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,,	,,381/497	176931332	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931332G>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1143C>T	5.37:g.176931332G>A						DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Silent_p.Y325Y	p.Y381Y	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1148	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	381					E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.1143C>T	CCDS4426.1																																																																																				PASS	0.662	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		12	8	12	8	---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10874708	10874708	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:10874708G>A	ENST00000379491.4	-	5	1188	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	347					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.N347N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGCCCATGGTTAGTCCTTT	0.512																																						uc003mzn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1039-1041)AAC>AAT		glial cells missing homolog 2							120.0	120.0	120.0					6																	10874708		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874708G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1041C>T	6.37:g.10874708G>A						SYCP2L_uc011dim.1_Intron	p.N347N	NM_004752	NP_004743	O75603	GCM2_HUMAN			5	1113	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	347					D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1041C>T	CCDS4517.1																																																																																				PASS	0.512	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			111	59	111	59	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10924825	10924825	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:10924825A>T	ENST00000283141.6	+	15	1465	c.1169A>T	c.(1168-1170)cAg>cTg	p.Q390L	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.Q231L	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	390						nucleus (GO:0005634)		p.Q390L(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTGATTTGCAGTTCAACATA	0.313																																						uc003mzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1168-1170)CAG>CTG		synaptonemal complex protein 2-like							83.0	77.0	79.0					6																	10924825		1829	4086	5915	SO:0001583	missense	221711					nucleus		g.chr6:10924825A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1169A>T	6.37:g.10924825A>T	ENSP00000283141:p.Gln390Leu					SYCP2L_uc011din.1_Missense_Mutation_p.Q231L|SYCP2L_uc010jow.2_Missense_Mutation_p.Q10L	p.Q390L	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		15	1465	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	390					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.1169A>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796760	0.50208	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.46063	0.88;2.17	5.24	4.05	0.47172	.	0.412070	0.25244	N	0.032068	T	0.40498	0.1119	M	0.68317	2.08	0.22081	N	0.999374	B;D	0.67145	0.019;0.996	B;P	0.59948	0.027;0.866	T	0.27262	-1.0079	10	0.48119	T	0.1	-6.642	9.3098	0.37898	0.8398:0.0:0.0:0.1602	.	231;390	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	L	231;390	ENSP00000440676:Q231L;ENSP00000283141:Q390L	ENSP00000283141:Q390L	Q	+	2	0	SYCP2L	11032811	0.007000	0.16637	0.052000	0.19188	0.877000	0.50540	2.320000	0.43797	0.897000	0.36392	0.533000	0.62120	CAG		PASS	0.313	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		24	16	24	16	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A	rs199771455		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3			neurensin 1									p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		14671	0.001		0.0	False		,,,				2504	0.0					uc010jpq.1																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(271-273)GAA>AAA		neurensin 1							102.0	97.0	99.0					6																	24145857		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145857G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.271G>A	6.37:g.24145857G>A	ENSP00000367752:p.Glu91Lys						p.E91K	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	508	+			91						Missense_Mutation	SNP	ENST00000378491.4	37	c.271G>A	CCDS4549.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.178898	0.94846	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.24151	1.87	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.50432	-0.8829	10	0.87932	D	0	5.9041	19.1095	0.93312	0.0:0.0:1.0:0.0	.	91	Q8IZ57	NRSN1_HUMAN	K	91	ENSP00000367752:E91K	ENSP00000367738:E91K	E	+	1	0	NRSN1	24253836	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.620000	0.98373	2.524000	0.85096	0.557000	0.71058	GAA		PASS	0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		25	92	25	92	---	---	---	---
ZNF391	346157	broad.mit.edu	37	6	27368701	27368701	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:27368701G>C	ENST00000244576.4	+	3	1097	c.552G>C	c.(550-552)caG>caC	p.Q184H		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q184H(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTCTACATCAGAGAATCCATA	0.403																																						uc003njf.1																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(550-552)CAG>CAC		zinc finger protein 391							65.0	72.0	69.0					6																	27368701		2198	4293	6491	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368701G>C	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.552G>C	6.37:g.27368701G>C	ENSP00000244576:p.Gln184His						p.Q184H	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1070	+			184			C2H2-type 3.		B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.552G>C	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700940	0.30142	.	.	ENSG00000124613	ENST00000244576	T	0.18502	2.21	4.01	0.889	0.19212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	M	0.64080	1.96	0.22827	N	0.998685	B	0.14012	0.009	B	0.09377	0.004	T	0.34675	-0.9819	9	0.54805	T	0.06	.	6.8111	0.23805	0.1029:0.3392:0.5579:0.0	.	184	Q9UJN7	ZN391_HUMAN	H	184	ENSP00000244576:Q184H	ENSP00000244576:Q184H	Q	+	3	2	ZNF391	27476680	0.031000	0.19500	0.613000	0.29037	0.956000	0.61745	0.159000	0.16442	0.165000	0.19558	-0.251000	0.11542	CAG		PASS	0.403	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		23	61	23	61	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30131694	30131695	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:30131694_30131695TG>CT	ENST00000376694.4	+	1	702_703	c.233_234TG>CT	c.(232-234)cTG>cCT	p.L78P	TRIM10_ENST00000376704.3_5'Flank|TRIM15_ENST00000376688.1_Missense_Mutation_p.L78P|TRIM10_ENST00000449742.2_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	78					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L78P(2)|p.L78L(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGGCCCGCTGGGAGAAACTT	0.629																																						uc010jrx.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(232-234)CTG>CCG|c.(232-234)CTG>CTT		tripartite motif protein 15																																				SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131694T>C|g.chr6:30131695G>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	Exception_encountered	6.37:g.30131694_30131695delinsCT	ENSP00000365884:p.Leu78Pro					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	p.L78P|p.L78L	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	712|713	+			78			B box-type.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation|Silent	SNP	ENST00000376694.4	37	c.233T>C|c.234G>T	CCDS4677.1																																																																																				PASS	0.629	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		26	26	26	26	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30671759	30671759	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:30671759G>A	ENST00000376406.3	-	10	5848	c.5201C>T	c.(5200-5202)gCa>gTa	p.A1734V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1470V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1734	Required for nuclear localization (NLS2).			A -> T (in Ref. 4; BAE78617). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.A1734V(1)		breast(2)|kidney(1)|ovary(1)	4						AATGGGAGCTGCGAGGGAGCC	0.552								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(5200-5202)GCA>GTA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							55.0	57.0	57.0					6																	30671759		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671759G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5201C>T	6.37:g.30671759G>A	ENSP00000365588:p.Ala1734Val					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1341V	p.A1734V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5641	-			1734	A -> T (in Ref. 4; BAE78617).		Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5201C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774477	0.31411	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05025	3.51;3.51	5.05	1.17	0.20885	.	0.808128	0.10452	N	0.672941	T	0.01489	0.0048	N	0.22421	0.69	0.09310	N	1	B;B	0.32918	0.39;0.014	B;B	0.38755	0.281;0.013	T	0.49523	-0.8931	10	0.25106	T	0.35	0.187	4.5301	0.12001	0.1704:0.0:0.5219:0.3077	.	1470;1734	Q14676-2;Q14676	.;MDC1_HUMAN	V	1734;1470;1447;1300	ENSP00000365588:A1734V;ENSP00000365587:A1470V	ENSP00000365587:A1470V	A	-	2	0	MDC1	30779738	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.178000	0.09782	0.085000	0.17107	-0.276000	0.10085	GCA		PASS	0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		18	73	18	73	---	---	---	---
LHFPL5	222662	broad.mit.edu	37	6	35782501	35782501	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:35782501C>T	ENST00000373853.1	+	2	969	c.591C>T	c.(589-591)ttC>ttT	p.F197F	LHFPL5_ENST00000360215.1_Silent_p.F197F|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	197					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.F197F(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCTGGCCTTCGTGTTGGGCT	0.612																																						uc003olg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(589-591)TTC>TTT		lipoma HMGIC fusion partner-like 5							138.0	83.0	102.0					6																	35782501		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35782501C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.591C>T	6.37:g.35782501C>T							p.F197F	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			2	968	+			197			Helical; (Potential).		B3KX66	Silent	SNP	ENST00000373853.1	37	c.591C>T	CCDS4812.1																																																																																				PASS	0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		32	14	32	14	---	---	---	---
TBC1D22B	55633	broad.mit.edu	37	6	37259053	37259053	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:37259053G>T	ENST00000373491.3	+	8	1048	c.902G>T	c.(901-903)cGc>cTc	p.R301L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	301	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.R301L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGGGCCATCCGCCACCCTGCC	0.443																																						uc003onn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CGC>CTC		TBC1 domain family, member 22B							98.0	90.0	93.0					6																	37259053		2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37259053G>T	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.902G>T	6.37:g.37259053G>T	ENSP00000362590:p.Arg301Leu					TBC1D22B_uc010jwt.2_RNA	p.R301L	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		8	1048	+			301			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.902G>T	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434397	0.96150	.	.	ENSG00000065491	ENST00000373491	T	0.03982	3.74	5.93	5.93	0.95920	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00684	-1.1611	10	0.44086	T	0.13	.	19.1756	0.93602	0.0:0.0:1.0:0.0	.	301	Q9NU19	TB22B_HUMAN	L	301	ENSP00000362590:R301L	ENSP00000362590:R301L	R	+	2	0	TBC1D22B	37367031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.823000	0.97156	0.650000	0.86243	CGC		PASS	0.443	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		48	31	48	31	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155792	43155792	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:43155792G>T	ENST00000252050.4	+	7	2007	c.1923G>T	c.(1921-1923)ctG>ctT	p.L641L	CUL9_ENST00000354495.3_Silent_p.L531L|CUL9_ENST00000372647.2_Silent_p.L641L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	641					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.L641L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTCTCAGCTGTTTAACCAGC	0.567																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(1921-1923)CTG>CTT		p53-associated parkin-like cytoplasmic protein							68.0	66.0	67.0					6																	43155792		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155792G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1923G>T	6.37:g.43155792G>T						CUL9_uc003ouj.1_Silent_p.L531L|CUL9_uc003oul.2_Silent_p.L641L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.L99L	p.L641L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			7	1998	+			641					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1923G>T	CCDS4890.1																																																																																				PASS	0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		35	18	35	18	---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44337825	44337825	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:44337825C>G	ENST00000288390.2	+	6	1080	c.733C>G	c.(733-735)Ctt>Gtt	p.L245V	SPATS1_ENST00000323108.8_Missense_Mutation_p.L245V|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	245								p.L245V(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTTATTCCACTTGAGCCTCT	0.328																																						uc003oxk.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(733-735)CTT>GTT		spermatogenesis associated, serine-rich 1							170.0	167.0	168.0					6																	44337825		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337825C>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.733C>G	6.37:g.44337825C>G	ENSP00000424400:p.Leu245Val					SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.L130V	p.L245V	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1080	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		245					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.733C>G	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903510	0.72754	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.60797	0.16;0.16	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000127	T	0.67664	0.2917	M	0.61703	1.905	0.37594	D	0.92031	D	0.76494	0.999	D	0.83275	0.996	T	0.69800	-0.5047	10	0.54805	T	0.06	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	245	Q496A3	SPAS1_HUMAN	V	245	ENSP00000437552:L245V;ENSP00000424400:L245V	ENSP00000424400:L245V	L	+	1	0	SPATS1	44445803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.513000	0.45494	2.654000	0.90174	0.655000	0.94253	CTT		PASS	0.328	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		79	56	79	56	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582403	49582403	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:49582403G>A	ENST00000371175.4	-	5	830	c.804C>T	c.(802-804)aaC>aaT	p.N268N	RHAG_ENST00000229810.7_Silent_p.N268N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	268					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.N268N(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACTTACCATGTTGAGCTTGC	0.498																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(802-804)AAC>AAT		Rh-associated glycoprotein							180.0	154.0	163.0					6																	49582403		2203	4300	6503	SO:0001819	synonymous_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582403G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.804C>T	6.37:g.49582403G>A						RHAG_uc010jzl.2_Silent_p.N268N|RHAG_uc010jzm.2_Silent_p.N268N	p.N268N	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	866	-	Lung NSC(77;0.0255)		268			Cytoplasmic (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.804C>T	CCDS4927.1																																																																																				PASS	0.498	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			61	57	61	57	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582408	49582408	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:49582408G>A	ENST00000371175.4	-	5	825	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	RHAG_ENST00000229810.7_Missense_Mutation_p.L267F	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	267					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.L267F(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ACCATGTTGAGCTTGCCTCGG	0.493																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(799-801)CTC>TTC		Rh-associated glycoprotein							180.0	154.0	162.0					6																	49582408		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582408G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.799C>T	6.37:g.49582408G>A	ENSP00000360217:p.Leu267Phe					RHAG_uc010jzl.2_Missense_Mutation_p.L267F|RHAG_uc010jzm.2_Missense_Mutation_p.L267F	p.L267F	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	861	-	Lung NSC(77;0.0255)		267			Cytoplasmic (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.799C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.344016	0.11126	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23950	1.88;1.88	5.35	3.58	0.41010	Ammonium transporter AmtB-like (3);	0.125698	0.51477	N	0.000088	T	0.06096	0.0158	N	0.25332	0.735	0.53688	D	0.999973	B;B;B	0.20780	0.048;0.017;0.017	B;B;B	0.22601	0.032;0.04;0.032	T	0.17501	-1.0367	10	0.21540	T	0.41	-11.3376	6.8141	0.23820	0.3582:0.0:0.6418:0.0	.	267;267;267	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	F	267	ENSP00000360217:L267F;ENSP00000229810:L267F	ENSP00000229810:L267F	L	-	1	0	RHAG	49690367	1.000000	0.71417	0.367000	0.25926	0.122000	0.20287	4.730000	0.62015	0.648000	0.30732	0.655000	0.94253	CTC		PASS	0.493	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			62	57	62	57	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51484067	51484067	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:51484067C>G	ENST00000371117.3	-	67	12312	c.12037G>C	c.(12037-12039)Ggc>Cgc	p.G4013R	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4013					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G4013R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATTTTGGCCTGCCAGCTGG	0.572																																						uc003pah.1																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(12037-12039)GGC>CGC		fibrocystin isoform 1							59.0	56.0	57.0					6																	51484067		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484067C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12037G>C	6.37:g.51484067C>G	ENSP00000360158:p.Gly4013Arg						p.G4013R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			67	12313	-	Lung NSC(77;0.0605)		4013			Cytoplasmic (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.12037G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081171	0.36758	.	.	ENSG00000170927	ENST00000371117	D	0.87334	-2.24	5.27	3.46	0.39613	.	0.437640	0.19639	N	0.109493	T	0.75273	0.3827	M	0.62723	1.935	0.80722	D	1	B	0.18013	0.025	B	0.17722	0.019	T	0.74044	-0.3791	10	0.72032	D	0.01	.	7.1586	0.25651	0.0:0.7137:0.1917:0.0946	.	4013	P08F94	PKHD1_HUMAN	R	4013	ENSP00000360158:G4013R	ENSP00000360158:G4013R	G	-	1	0	PKHD1	51592026	0.785000	0.28726	0.994000	0.49952	0.789000	0.44602	1.320000	0.33666	0.702000	0.31825	0.655000	0.94253	GGC		PASS	0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		41	30	41	30	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57398140	57398140	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:57398140C>A	ENST00000607273.1	+	10	930	c.843C>A	c.(841-843)acC>acA	p.T281T	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	281					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.T281T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGCTTTCTACCAAATCCTTCC	0.373																																						uc003pdx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)ACC>ACA		DNA primase polypeptide 2							244.0	223.0	230.0					6																	57398140		1907	4134	6041	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57398140C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.843C>A	6.37:g.57398140C>A							p.T281T	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	10	930	+			281					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.843C>A																																																																																					PASS	0.373	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		51	119	51	119	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66044902	66044902	+	Silent	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:66044902A>T	ENST00000370621.3	-	11	2263	c.1737T>A	c.(1735-1737)gcT>gcA	p.A579A	EYS_ENST00000370618.3_Silent_p.A579A|EYS_ENST00000393380.2_Silent_p.A579A|EYS_ENST00000370616.2_Silent_p.A579A|EYS_ENST00000503581.1_Silent_p.A579A|EYS_ENST00000342421.5_Silent_p.A579A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	579	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A579A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTTACAAACAGCTTCATGTT	0.323																																						uc011dxu.1																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1735-1737)GCT>GCA		eyes shut homolog isoform 1							167.0	155.0	159.0					6																	66044902		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66044902A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1737T>A	6.37:g.66044902A>T						EYS_uc003peq.2_Silent_p.A579A|EYS_uc003per.1_Silent_p.A579A	p.A579A	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			11	2275	-			579			EGF-like 6.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.1737T>A																																																																																					PASS	0.323	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		20	99	20	99	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204874	66204874	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:66204874C>A	ENST00000370621.3	-	4	956	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	EYS_ENST00000370618.3_Missense_Mutation_p.G144W|EYS_ENST00000393380.2_Missense_Mutation_p.G144W|EYS_ENST00000370616.2_Missense_Mutation_p.G144W|EYS_ENST00000503581.1_Missense_Mutation_p.G144W|EYS_ENST00000342421.5_Missense_Mutation_p.G144W			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	144					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G144W(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAATGTGTCCCAACACTCAGC	0.433																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(430-432)GGG>TGG		eyes shut homolog isoform 1							70.0	61.0	64.0					6																	66204874		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204874C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.430G>T	6.37:g.66204874C>A	ENSP00000359655:p.Gly144Trp					EYS_uc003peq.2_Missense_Mutation_p.G144W|EYS_uc003per.1_Missense_Mutation_p.G144W|EYS_uc010kaj.1_RNA	p.G144W	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	968	-			144					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.430G>T		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916127	0.52546	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.92	3.11	0.35812	.	.	.	.	.	T	0.80623	0.4658	N	0.08118	0	0.09310	N	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.73697	-0.3901	9	0.87932	D	0	.	8.1031	0.30870	0.0:0.8057:0.0:0.1943	.	144;144;144	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	W	144	ENSP00000424243:G144W;ENSP00000359655:G144W;ENSP00000359650:G144W;ENSP00000377042:G144W;ENSP00000341818:G144W;ENSP00000359652:G144W	ENSP00000341818:G144W	G	-	1	0	EYS	66261595	0.984000	0.35163	0.014000	0.15608	0.891000	0.51852	3.478000	0.53158	0.558000	0.29135	0.591000	0.81541	GGG		PASS	0.433	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		43	49	43	49	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70610181	70610181	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:70610181G>A	ENST00000322773.4	+	4	319	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	73	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.D73N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTGTGAAAGTGATAAAACCTG	0.259																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(217-219)GAT>AAT		alpha 1 type XIX collagen precursor							71.0	73.0	72.0					6																	70610181		2203	4298	6501	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70610181G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.217G>A	6.37:g.70610181G>A	ENSP00000316030:p.Asp73Asn						p.D73N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			4	334	+			73			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.217G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958950	0.53400	.	.	ENSG00000082293	ENST00000322773	T	0.46819	0.86	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.232646	0.33980	N	0.004373	T	0.37100	0.0991	L	0.54323	1.7	0.80722	D	1	P	0.35433	0.501	B	0.32980	0.156	T	0.41251	-0.9519	10	0.87932	D	0	.	19.8738	0.96861	0.0:0.0:1.0:0.0	.	73	Q14993	COJA1_HUMAN	N	73	ENSP00000316030:D73N	ENSP00000316030:D73N	D	+	1	0	COL19A1	70666902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.473000	0.73572	2.798000	0.96311	0.650000	0.86243	GAT		PASS	0.259	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			39	37	39	37	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70983776	70983776	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:70983776C>T	ENST00000357250.6	-	12	1197	c.1039G>A	c.(1039-1041)Ggt>Agt	p.G347S	COL9A1_ENST00000320755.7_Missense_Mutation_p.G104S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G104S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	347	Collagen-like 2.|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.G347S(1)|p.G104S(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						CCAGGCACACCAGGTTCTCCC	0.313																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1039-1041)GGT>AGT		alpha 1 type IX collagen isoform 1 precursor							55.0	59.0	58.0					6																	70983776		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70983776C>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.1039G>A	6.37:g.70983776C>T	ENSP00000349790:p.Gly347Ser					COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.G104S	p.G347S	NM_001851	NP_001842	P20849	CO9A1_HUMAN			12	1198	-			347			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1039G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023901	0.75390	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-6.27;-6.27;-6.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97458	1.0032	10	0.72032	D	0.01	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	347;104	P20849;P20849-2	CO9A1_HUMAN;.	S	347;104;104	ENSP00000349790:G347S;ENSP00000315252:G104S;ENSP00000359530:G104S	ENSP00000315252:G104S	G	-	1	0	COL9A1	71040497	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.885000	0.99019	0.655000	0.94253	GGT		PASS	0.313	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			22	35	22	35	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72806703	72806703	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:72806703G>A	ENST00000521978.1	+	3	297	c.297G>A	c.(295-297)ggG>ggA	p.G99G	RIMS1_ENST00000520567.1_Silent_p.G99G|RIMS1_ENST00000522291.1_Silent_p.G99G|RIMS1_ENST00000491071.2_Silent_p.G99G|RIMS1_ENST00000517960.1_Silent_p.G99G|RIMS1_ENST00000348717.5_Silent_p.G99G|RIMS1_ENST00000518273.1_Silent_p.G99G|RIMS1_ENST00000264839.7_Silent_p.G99G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	99	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.G99G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAAATAGGGGAAGAAGCGC	0.438																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(295-297)GGG>GGA		regulating synaptic membrane exocytosis 1							82.0	75.0	77.0					6																	72806703		1912	4128	6040	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806703G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.297G>A	6.37:g.72806703G>A							p.G99G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			3	374	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	99			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.297G>A	CCDS47449.1																																																																																				PASS	0.438	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	26	6	26	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73102502	73102502	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:73102502C>A	ENST00000521978.1	+	31	4608	c.4608C>A	c.(4606-4608)acC>acA	p.T1536T	RIMS1_ENST00000425662.2_Silent_p.T604T|RIMS1_ENST00000520567.1_Silent_p.T1186T|RIMS1_ENST00000522291.1_Silent_p.T1135T|RIMS1_ENST00000538414.1_Silent_p.T342T|RIMS1_ENST00000491071.2_Silent_p.T1359T|RIMS1_ENST00000401910.3_Silent_p.T856T|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Silent_p.T661T|RIMS1_ENST00000517960.1_Silent_p.T1319T|RIMS1_ENST00000348717.5_Silent_p.T1319T|RIMS1_ENST00000517827.1_Silent_p.T670T|RIMS1_ENST00000518273.1_Silent_p.T1215T|RIMS1_ENST00000264839.7_Silent_p.T1385T|RIMS1_ENST00000414192.2_Silent_p.T63T	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1536					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.T1536T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCTTGCCACCCCTGCAATGG	0.383																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(4606-4608)ACC>ACA		regulating synaptic membrane exocytosis 1							77.0	72.0	74.0					6																	73102502		1825	4097	5922	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73102502C>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4608C>A	6.37:g.73102502C>A						RIMS1_uc011dyb.1_Silent_p.T933T|RIMS1_uc003pgc.2_Silent_p.T985T|RIMS1_uc010kaq.2_Silent_p.T856T|RIMS1_uc011dyc.1_Silent_p.T661T|RIMS1_uc010kar.2_Silent_p.T604T|RIMS1_uc011dyd.1_Silent_p.T670T|RIMS1_uc003pgf.2_Silent_p.T536T|RIMS1_uc003pgg.2_Silent_p.T432T|RIMS1_uc003pgi.2_Silent_p.T352T|RIMS1_uc003pgh.2_Silent_p.T403T|RIMS1_uc003pgd.2_Silent_p.T602T|RIMS1_uc003pge.2_Silent_p.T576T|RIMS1_uc011dye.1_Silent_p.T342T|RIMS1_uc011dyf.1_Silent_p.T160T|RIMS1_uc011dyg.1_Silent_p.T63T	p.T1536T	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			31	4685	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1536					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.4608C>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.425|7.425	0.637584|0.637584	0.14386|0.14386	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.5|5.5	-0.387|-0.387	0.12463|0.12463	.|.	.|.	.|.	.|.	.|.	T|T	0.34106|0.34106	0.0886|0.0886	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24835|0.24835	-1.0149|-1.0149	4|4	.|.	.|.	.|.	-16.1022|-16.1022	4.8797|4.8797	0.13674|0.13674	0.3441:0.415:0.0:0.2409|0.3441:0.415:0.0:0.2409	.|.	.|.	.|.	.|.	H|T	454|882	.|.	.|.	P|P	+|+	2|1	0|0	RIMS1|RIMS1	73159223|73159223	0.009000|0.009000	0.17119|0.17119	0.997000|0.997000	0.53966|0.53966	0.801000|0.801000	0.45260|0.45260	-1.115000|-1.115000	0.03289|0.03289	-0.010000|-0.010000	0.14271|0.14271	0.591000|0.591000	0.81541|0.81541	CCC|CCC		PASS	0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			47	67	47	67	---	---	---	---
OOEP	441161	broad.mit.edu	37	6	74079480	74079480	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:74079480C>A	ENST00000370359.5	-	1	35	c.36G>T	c.(34-36)cgG>cgT	p.R12R	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	12					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)	p.R12R(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTGTTTGCCCCGCTGGGACT	0.657																																						uc003pgu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)CGG>CGT		oocyte expressed protein homolog							49.0	60.0	57.0					6																	74079480		2141	4265	6406	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74079480C>A	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.36G>T	6.37:g.74079480C>A						OOEP_uc003pgv.3_Intron	p.R12R	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			1	36	-			12					A6NIN5|A9UIB7	Silent	SNP	ENST00000370359.5	37	c.36G>T	CCDS47451.1																																																																																				PASS	0.657	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		24	118	24	118	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022205	76022205	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:76022205G>A	ENST00000237172.7	-	5	3673	c.3343C>T	c.(3343-3345)Cac>Tac	p.H1115Y	FILIP1_ENST00000393004.2_Missense_Mutation_p.H1115Y|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.H1016Y	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1115								p.H1115Y(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGGAGAGGTGATTCCTGGGA	0.537																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(3343-3345)CAC>TAC		filamin A interacting protein 1							216.0	166.0	183.0					6																	76022205		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022205G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3343C>T	6.37:g.76022205G>A	ENSP00000237172:p.His1115Tyr					FILIP1_uc003phy.1_Missense_Mutation_p.H1115Y|FILIP1_uc003phz.2_Missense_Mutation_p.H1016Y|FILIP1_uc010kbe.2_Missense_Mutation_p.H1118Y|FILIP1_uc003pib.1_Missense_Mutation_p.H867Y	p.H1115Y	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	3716	-			1115					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3343C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223251	0.09863	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17213	2.29;2.29;2.29	5.76	3.84	0.44239	.	0.587209	0.19487	N	0.113072	T	0.03011	0.0089	N	0.08118	0	0.23628	N	0.997255	B;B;B	0.24576	0.064;0.064;0.106	B;B;B	0.13407	0.006;0.004;0.009	T	0.34030	-0.9845	10	0.59425	D	0.04	-7.7792	8.0503	0.30575	0.0:0.1152:0.5369:0.3479	.	1115;1115;1115	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	1115;1115;1016	ENSP00000376728:H1115Y;ENSP00000237172:H1115Y;ENSP00000359037:H1016Y	ENSP00000237172:H1115Y	H	-	1	0	FILIP1	76078925	0.796000	0.28864	0.639000	0.29394	0.121000	0.20230	1.123000	0.31308	2.728000	0.93425	0.655000	0.94253	CAC		PASS	0.537	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		44	168	44	168	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84366499	84366499	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:84366499T>A	ENST00000439399.2	-	7	948	c.632A>T	c.(631-633)tAc>tTc	p.Y211F	SNAP91_ENST00000520213.1_Missense_Mutation_p.Y211F|SNAP91_ENST00000428679.2_Missense_Mutation_p.Y211F|SNAP91_ENST00000521743.1_Missense_Mutation_p.Y211F|SNAP91_ENST00000520302.1_Missense_Mutation_p.Y211F|SNAP91_ENST00000195649.6_Missense_Mutation_p.Y211F|SNAP91_ENST00000437520.1_Missense_Mutation_p.Y211F|SNAP91_ENST00000521485.1_Missense_Mutation_p.Y211F|SNAP91_ENST00000369694.2_Missense_Mutation_p.Y211F	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	211					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.Y211F(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCATCATTGTAGCAAGCAAA	0.378																																						uc011dze.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(631-633)TAC>TTC		synaptosomal-associated protein, 91kDa homolog							109.0	103.0	105.0					6																	84366499		1891	4119	6010	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84366499T>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.632A>T	6.37:g.84366499T>A	ENSP00000400459:p.Tyr211Phe					SNAP91_uc003pkb.2_Missense_Mutation_p.Y176F|SNAP91_uc003pkc.2_Missense_Mutation_p.Y211F|SNAP91_uc003pkd.2_Missense_Mutation_p.Y211F|SNAP91_uc003pka.2_Missense_Mutation_p.Y211F|SNAP91_uc011dzf.1_Missense_Mutation_p.Y92F	p.Y211F	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	7	949	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	211					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.632A>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.937319	0.92458	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.11	5.11	0.69529	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;D;D;D	0.83275	0.99;0.994;0.996;0.994	T	0.71038	-0.4708	10	0.87932	D	0	-3.3997	15.1975	0.73104	0.0:0.0:0.0:1.0	.	211;211;211;211	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	F	211	ENSP00000429776:Y211F;ENSP00000358708:Y211F;ENSP00000400459:Y211F;ENSP00000195649:Y211F;ENSP00000412492:Y211F;ENSP00000413277:Y211F;ENSP00000428511:Y211F;ENSP00000428215:Y211F;ENSP00000428026:Y211F;ENSP00000430071:Y211F	ENSP00000195649:Y211F	Y	-	2	0	SNAP91	84423218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.056000	0.61249	0.383000	0.25322	TAC		PASS	0.378	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			10	36	10	36	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90362722	90362722	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:90362722T>C	ENST00000369393.3	-	94	15929	c.15814A>G	c.(15814-15816)Acg>Gcg	p.T5272A	MDN1_ENST00000428876.1_Missense_Mutation_p.T5272A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5272					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.T5272A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGAAGATCGTGTCCATGAGG	0.343																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(15814-15816)ACG>GCG		MDN1, midasin homolog							251.0	227.0	235.0					6																	90362722		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90362722T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15814A>G	6.37:g.90362722T>C	ENSP00000358400:p.Thr5272Ala						p.T5272A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	94	15930	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5272					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15814A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	6.478	0.456449	0.12283	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.42131	0.98;0.98	5.93	-3.47	0.04753	.	0.610238	0.16422	N	0.215125	T	0.05868	0.0153	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31280	-0.9949	10	0.08837	T	0.75	.	0.5951	0.00735	0.2035:0.182:0.2077:0.4067	.	5272	Q9NU22	MDN1_HUMAN	A	5272	ENSP00000358400:T5272A;ENSP00000413970:T5272A	ENSP00000358400:T5272A	T	-	1	0	MDN1	90419443	0.003000	0.15002	0.018000	0.16275	0.268000	0.26511	0.095000	0.15127	-0.126000	0.11682	0.533000	0.62120	ACG		PASS	0.343	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			50	241	50	241	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96973248	96973248	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:96973248G>A	ENST00000369278.4	+	4	394	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	110	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.V110M(1)									TGTTCAGTTAGTGTTGGGACA	0.274																																						uc003por.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)GTG>ATG		hypothetical protein LOC23376							92.0	111.0	105.0					6																	96973248		2201	4287	6488	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96973248G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.328G>A	6.37:g.96973248G>A	ENSP00000358283:p.Val110Met					KIAA0776_uc010kck.2_RNA	p.V110M	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	4	376	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	110			Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.328G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740707	0.69304	.	.	ENSG00000014123	ENST00000369278	T	0.47869	0.83	5.42	5.42	0.78866	.	0.178321	0.49916	D	0.000132	T	0.54515	0.1863	L	0.55103	1.725	0.50039	D	0.999845	D	0.62365	0.991	D	0.65140	0.932	T	0.46034	-0.9220	10	0.31617	T	0.26	-13.1964	18.2051	0.89852	0.0:0.0:1.0:0.0	.	110	O94874	UFL1_HUMAN	M	110	ENSP00000358283:V110M	ENSP00000358283:V110M	V	+	1	0	KIAA0776	97079969	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	3.965000	0.56788	2.545000	0.85829	0.650000	0.86243	GTG		PASS	0.274	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		87	120	87	120	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106536322	106536322	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:106536322G>A	ENST00000369096.4	+	2	523	c.289G>A	c.(289-291)Gag>Aag	p.E97K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E61K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	97	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E61K(1)|p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAACAGTGAAGAGGTAAGCCT	0.502			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		2	Substitution - Missense(1)|Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(289-291)GAG>AAG		PR domain containing 1, with ZNF domain isoform							101.0	91.0	94.0					6																	106536322		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106536322G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.289G>A	6.37:g.106536322G>A	ENSP00000358092:p.Glu97Lys						p.E97K	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	2	523	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	97			SET.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.289G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748350	0.69533	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000424894	T;T;T	0.58797	3.15;3.14;0.31	5.81	5.81	0.92471	SET domain (2);	0.101142	0.64402	N	0.000003	T	0.59676	0.2211	L	0.42581	1.335	0.80722	D	1	D	0.59767	0.986	P	0.56751	0.805	T	0.56498	-0.7969	10	0.44086	T	0.13	-20.4853	20.0787	0.97763	0.0:0.0:1.0:0.0	.	97	O75626	PRDM1_HUMAN	K	61;97;61;61	ENSP00000358087:E61K;ENSP00000358092:E97K;ENSP00000395566:E61K	ENSP00000358087:E61K	E	+	1	0	PRDM1	106643015	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.229000	0.95273	2.757000	0.94681	0.462000	0.41574	GAG		PASS	0.502	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			25	101	25	101	---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114378987	114378987	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:114378987A>G	ENST00000312719.5	-	5	1663	c.475T>C	c.(475-477)Tat>Cat	p.Y159H	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.Y159H|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	159					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.Y159H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATAAAATATGCTGGGCTC	0.383																																						uc003pwg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(475-477)TAT>CAT		heparan sulfate (glucosamine)							138.0	143.0	141.0					6																	114378987		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378987A>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.475T>C	6.37:g.114378987A>G	ENSP00000427888:p.Tyr159His					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.Y159H	p.Y159H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	507	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	159			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.475T>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315423	0.60524	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.61274	0.12;0.12	5.92	5.92	0.95590	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86237	0.1641	10	0.87932	D	0	.	16.3648	0.83312	1.0:0.0:0.0:0.0	.	159	Q8IZT8	HS3S5_HUMAN	H	159	ENSP00000427888:Y159H;ENSP00000440332:Y159H	ENSP00000427888:Y159H	Y	-	1	0	HS3ST5	114485680	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	TAT		PASS	0.383	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		160	193	160	193	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117700271	117700271	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:117700271G>C	ENST00000368508.3	-	17	2746	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q845E	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	850					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q850E(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGACTGTCTTGAACCAACCAA	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2548-2550)CAA>GAA		proto-oncogene c-ros-1 protein precursor							99.0	90.0	93.0					6																	117700271		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117700271G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2548C>G	6.37:g.117700271G>C	ENSP00000357494:p.Gln850Glu					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.Q850E	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	17	2747	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	850			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2548C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532573	0.64972	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91068	-2.78;-2.78	3.9	3.9	0.45041	.	0.107185	0.41823	D	0.000818	T	0.81645	0.4866	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.46718	0.525	T	0.81947	-0.0700	10	0.34782	T	0.22	.	14.2338	0.65911	0.0:0.0:1.0:0.0	.	850	P08922	ROS1_HUMAN	E	850;845	ENSP00000357494:Q850E;ENSP00000357493:Q845E	ENSP00000357493:Q845E	Q	-	1	0	ROS1	117806964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.153000	0.58118	2.474000	0.83562	0.650000	0.86243	CAA		PASS	0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			36	54	36	54	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119281342	119281342	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:119281342G>C	ENST00000338891.7	-	18	3792	c.3349C>G	c.(3349-3351)Cag>Gag	p.Q1117E	FAM184A_ENST00000352896.5_Missense_Mutation_p.Q948E|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q913E|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q1033E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1117						extracellular space (GO:0005615)		p.Q1117E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCACTCTGAGCAGGACTG	0.443																																						uc003pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(3349-3351)CAG>GAG		hypothetical protein LOC79632 isoform 1							70.0	72.0	72.0					6																	119281342		1893	4103	5996	SO:0001583	missense	79632							g.chr6:119281342G>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3349C>G	6.37:g.119281342G>C	ENSP00000342604:p.Gln1117Glu					FAM184A_uc003pyk.3_Missense_Mutation_p.Q948E|FAM184A_uc003pyl.3_Missense_Mutation_p.Q913E|FAM184A_uc003pyi.2_RNA	p.Q1117E	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			18	3697	-			1117					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.3349C>G	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.779|9.779	1.174897|1.174897	0.21704|0.21704	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000368472;ENST00000521531|ENST00000517987	T;T;T;T;T|.	0.46063|.	2.55;2.51;1.98;0.88;1.97|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.067108|.	0.64402|.	D|.	0.000013|.	T|.	0.46464|.	0.1394|.	N|N	0.25426|0.25426	0.745|0.745	0.80722|0.80722	D|D	1|1	D;D;D|.	0.59767|.	0.982;0.982;0.986|.	D;D;D|.	0.72982|.	0.968;0.968;0.979|.	T|.	0.36672|.	-0.9738|.	10|.	0.05436|.	T|.	0.98|.	-14.3252|-14.3252	19.5252|19.5252	0.95201|0.95201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1033;948;1117|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	E|X	245;1117;948;913;142;1033|46	ENSP00000342604:Q1117E;ENSP00000326608:Q948E;ENSP00000357460:Q913E;ENSP00000357457:Q142E;ENSP00000430442:Q1033E|.	ENSP00000342604:Q1117E|.	Q|S	-|-	1|2	0|0	FAM184A|FAM184A	119323041|119323041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.742000|0.742000	0.42306|0.42306	5.553000|5.553000	0.67287|0.67287	2.676000|2.676000	0.91093|0.91093	0.557000|0.557000	0.71058|0.71058	CAG|TCA		PASS	0.443	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		12	98	12	98	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123318974	123318974	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:123318974C>A	ENST00000275162.5	+	2	1387	c.52C>A	c.(52-54)Ctg>Atg	p.L18M	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	18					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.L18M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAAAGCTCGCCTGGAGCTCAA	0.547																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(52-54)CTG>ATG		retinaldehyde binding protein 1-like 2							99.0	94.0	96.0					6																	123318974		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123318974C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.52C>A	6.37:g.123318974C>A	ENSP00000275162:p.Leu18Met						p.L18M	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	921	+			18					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.52C>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012596	0.54468	.	.	ENSG00000146352	ENST00000275162	T	0.79141	-1.24	5.39	2.58	0.30949	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.218239	0.39759	N	0.001279	T	0.67730	0.2924	L	0.42245	1.32	0.80722	D	1	P	0.39480	0.675	P	0.51866	0.682	T	0.67027	-0.5774	10	0.46703	T	0.11	2.4821	8.2238	0.31558	0.0:0.6054:0.0:0.3946	.	18	Q5SYC1	CLVS2_HUMAN	M	18	ENSP00000275162:L18M	ENSP00000275162:L18M	L	+	1	2	CLVS2	123360673	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.086000	0.30853	0.370000	0.24538	-0.224000	0.12420	CTG		PASS	0.547	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		33	47	33	47	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319225	123319225	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:123319225G>T	ENST00000275162.5	+	2	1638	c.303G>T	c.(301-303)aaG>aaT	p.K101N	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	101	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.K101N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGGCACTGAAGGATGGCTTCC	0.537																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(301-303)AAG>AAT		retinaldehyde binding protein 1-like 2							72.0	68.0	69.0					6																	123319225		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319225G>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.303G>T	6.37:g.123319225G>T	ENSP00000275162:p.Lys101Asn						p.K101N	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1172	+			101			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.303G>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490800	0.26774	.	.	ENSG00000146352	ENST00000275162	D	0.84298	-1.83	5.39	1.61	0.23674	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	N	0.04705	-0.18	0.80722	D	1	B	0.26318	0.146	B	0.33620	0.167	T	0.40664	-0.9551	10	0.18710	T	0.47	-3.6727	10.5896	0.45302	0.2652:0.0:0.7348:0.0	.	101	Q5SYC1	CLVS2_HUMAN	N	101	ENSP00000275162:K101N	ENSP00000275162:K101N	K	+	3	2	CLVS2	123360924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.879000	0.28146	0.426000	0.26116	0.585000	0.79938	AAG		PASS	0.537	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		60	73	60	73	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319300	123319300	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:123319300G>T	ENST00000275162.5	+	2	1713	c.378G>T	c.(376-378)tgG>tgT	p.W126C	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.W126C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTGCCAATTGGGATCAGAGCA	0.468																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(376-378)TGG>TGT		retinaldehyde binding protein 1-like 2							51.0	48.0	49.0					6																	123319300		2201	4293	6494	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319300G>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.378G>T	6.37:g.123319300G>T	ENSP00000275162:p.Trp126Cys						p.W126C	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1247	+			126			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.378G>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167075	0.78339	.	.	ENSG00000146352	ENST00000275162	T	0.75477	-0.94	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055265	0.85682	D	0.000000	D	0.87446	0.6179	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88363	0.2989	10	0.87932	D	0	-1.0412	19.5559	0.95347	0.0:0.0:1.0:0.0	.	126	Q5SYC1	CLVS2_HUMAN	C	126	ENSP00000275162:W126C	ENSP00000275162:W126C	W	+	3	0	CLVS2	123360999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.645000	0.98471	2.861000	0.98227	0.650000	0.86243	TGG		PASS	0.468	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		52	55	52	55	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123600200	123600200	+	Splice_Site	SNP	C	C	G	rs189125299	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:123600200C>G	ENST00000398178.3	-	25	1559		c.e25+1		TRDN_ENST00000334268.4_Splice_Site	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ATATAACATACGTGGAGGTTT	0.274																																						uc003pzj.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e25+1		triadin							197.0	180.0	185.0					6																	123600200		1818	4077	5895	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600200C>G	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1537+1G>C	6.37:g.123600200C>G						TRDN_uc010kem.1_Splice_Site_p.Q14_splice	p.Q513_splice	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1559	-								A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1537_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224056	0.58668	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7864	0.34823	0.0:0.8967:0.0:0.1033	.	.	.	.	.	-1	.	.	.	-	.	.	TRDN	123641899	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.171000	0.31896	1.409000	0.46915	0.655000	0.94253	.		PASS	0.274	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron	22	43	22	43	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129588326	129588326	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:129588326C>A	ENST00000421865.2	+	16	2333	c.2284C>A	c.(2284-2286)Cat>Aat	p.H762N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	762	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.H762N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGCTTTGGTCATGCGGAGTC	0.493																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2284-2286)CAT>AAT		laminin alpha 2 subunit isoform a precursor							331.0	277.0	295.0					6																	129588326		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129588326C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2284C>A	6.37:g.129588326C>A	ENSP00000400365:p.His762Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.H762N	p.H762N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	16	2389	+			762			Laminin EGF-like 6.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2284C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873654	0.91664	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.65549	-0.16	5.66	5.66	0.87406	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.58510	1.815	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.69258	-0.5192	10	0.40728	T	0.16	.	19.7324	0.96188	0.0:1.0:0.0:0.0	.	762;762	A6NF00;P24043	.;LAMA2_HUMAN	N	762	ENSP00000400365:H762N	ENSP00000346769:H762N	H	+	1	0	LAMA2	129630019	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.077000	0.76814	2.663000	0.90544	0.655000	0.94253	CAT		PASS	0.493	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			165	205	165	205	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132171234	132171234	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:132171234T>A	ENST00000360971.2	+	3	438	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	140	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.C88S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCAGGAGACGTGCATAGAACC	0.438																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(418-420)TGC>AGC		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						140.0	127.0	132.0					6																	132171234		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171234T>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.418T>A	6.37:g.132171234T>A	ENSP00000354238:p.Cys140Ser						p.C140S	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	3	438	+	Breast(56;0.0505)		140			SMB 1.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.418T>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285495	0.59867	.	.	ENSG00000197594	ENST00000360971	D	0.91894	-2.93	5.53	5.53	0.82687	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.312162	0.32093	N	0.006589	D	0.96454	0.8843	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97349	0.9962	10	0.87932	D	0	-18.4575	14.9356	0.70951	0.0:0.0:0.0:1.0	.	140	P22413	ENPP1_HUMAN	S	140	ENSP00000354238:C140S	ENSP00000354238:C140S	C	+	1	0	ENPP1	132212927	1.000000	0.71417	0.262000	0.24481	0.346000	0.29079	5.168000	0.64978	2.227000	0.72691	0.528000	0.53228	TGC		PASS	0.438	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			30	99	30	99	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966703	132966703	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:132966703C>A	ENST00000275216.1	-	1	439	c.440G>T	c.(439-441)aGt>aTt	p.S147I		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	147					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.S147I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	GACACTCCAACTAATGAAGAT	0.393																																						uc003qdm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)AGT>ATT		trace amine associated receptor 1	Amphetamine(DB00182)						58.0	57.0	58.0					6																	132966703		2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132966703C>A	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.440G>T	6.37:g.132966703C>A	ENSP00000275216:p.Ser147Ile						p.S147I	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	440	-	Breast(56;0.135)		147			Helical; Name=4; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.440G>T	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507906	0.85282	.	.	ENSG00000146399	ENST00000275216	T	0.69435	-0.4	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.043249	0.85682	D	0.000000	T	0.57431	0.2053	L	0.45352	1.415	0.54753	D	0.999987	P	0.38565	0.637	B	0.41174	0.349	T	0.63220	-0.6686	10	0.62326	D	0.03	-9.8524	19.8989	0.96978	0.0:1.0:0.0:0.0	.	147	Q96RJ0	TAAR1_HUMAN	I	147	ENSP00000275216:S147I	ENSP00000275216:S147I	S	-	2	0	TAAR1	133008396	0.977000	0.34250	0.894000	0.35097	0.947000	0.59692	3.971000	0.56831	2.706000	0.92434	0.555000	0.69702	AGT		PASS	0.393	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		36	58	36	58	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966855	132966855	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:132966855A>G	ENST00000275216.1	-	1	287	c.288T>C	c.(286-288)tgT>tgC	p.C96C		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	96					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.C96C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TGTGAATTTTACAGAAGACTT	0.458																																						uc003qdm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)TGT>TGC		trace amine associated receptor 1	Amphetamine(DB00182)						94.0	91.0	92.0					6																	132966855		2203	4299	6502	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132966855A>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.288T>C	6.37:g.132966855A>G							p.C96C	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	288	-	Breast(56;0.135)		96			Extracellular (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.288T>C	CCDS5158.1																																																																																				PASS	0.458	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		12	62	12	62	---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135239933	135239933	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:135239933T>A	ENST00000265605.2	-	7	1152	c.1084A>T	c.(1084-1086)Agc>Tgc	p.S362C	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.S312C|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.S308C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	362					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.S362C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCAGGGAGGCTCAACTTATCC	0.483																																						uc003qew.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1084-1086)AGC>TGC		aldehyde dehydrogenase 8A1 isoform 1							114.0	116.0	115.0					6																	135239933		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135239933T>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1084A>T	6.37:g.135239933T>A	ENSP00000265605:p.Ser362Cys					ALDH8A1_uc003qex.2_Missense_Mutation_p.S308C|ALDH8A1_uc010kgh.2_Missense_Mutation_p.S140C|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S312C	p.S362C	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	7	1137	-	Colorectal(23;0.221)		362					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.1084A>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687995	0.29962	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.76968	-1.06;-1.05;-1.06;-1.06	5.72	0.669	0.17918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.824185	0.11892	N	0.519523	T	0.55289	0.1911	N	0.19112	0.55	0.20873	N	0.999833	P;P;P	0.44734	0.842;0.696;0.842	P;P;P	0.51918	0.684;0.556;0.684	T	0.50792	-0.8786	10	0.66056	D	0.02	.	6.1623	0.20370	0.0:0.4313:0.1652:0.4035	.	312;308;362	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	C	362;308;312;47	ENSP00000265605:S362C;ENSP00000356819:S308C;ENSP00000356821:S312C;ENSP00000437161:S47C	ENSP00000265605:S362C	S	-	1	0	ALDH8A1	135281626	0.074000	0.21230	0.002000	0.10522	0.053000	0.15095	0.799000	0.27028	-0.099000	0.12263	-0.331000	0.08364	AGC		PASS	0.483	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			34	112	34	112	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137525569	137525569	+	Missense_Mutation	SNP	G	G	A	rs387906572		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:137525569G>A	ENST00000367739.4	-	4	567	c.446C>T	c.(445-447)tCa>tTa	p.S149L	IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.S121L|IFNGR1_ENST00000367735.2_Missense_Mutation_p.S139L	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	149					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.S149L(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TACAAAAACTGAAGGGTGAAA	0.413																																						uc003qho.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(445-447)TCA>TTA		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						181.0	156.0	164.0					6																	137525569		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137525569G>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.446C>T	6.37:g.137525569G>A	ENSP00000356713:p.Ser149Leu					IFNGR1_uc011edm.1_Missense_Mutation_p.S121L|IFNGR1_uc011edn.1_Missense_Mutation_p.S139L	p.S149L	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	4	549	-	Colorectal(23;0.24)		149			Extracellular (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.446C>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	6.312	0.425654	0.11987	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.51	0.47	0.16747	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.023150	0.07799	N	0.956128	T	0.05777	0.0151	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.0	T	0.34675	-0.9819	10	0.26408	T	0.33	-0.9218	3.1773	0.06572	0.5136:0.0:0.3016:0.1848	.	139;121;149	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	L	149;149;121;115;139;139	ENSP00000356713:S149L;ENSP00000443282:S121L;ENSP00000389249:S115L;ENSP00000356709:S139L;ENSP00000394230:S139L	ENSP00000356709:S139L	S	-	2	0	IFNGR1	137567262	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	0.323000	0.19593	0.056000	0.16144	-0.302000	0.09304	TCA		PASS	0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			11	137	11	137	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139206647	139206647	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:139206647G>C	ENST00000423192.1	+	16	2194	c.2033G>C	c.(2032-2034)aGa>aCa	p.R678T	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.R678T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	678	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R678T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTTTAGTGCAGAGAAATGATA	0.428			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(2032-2034)AGA>ACA		epithelial cell transforming sequence 2							101.0	95.0	97.0					6																	139206647		1915	4122	6037	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139206647G>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2033G>C	6.37:g.139206647G>C	ENSP00000387388:p.Arg678Thr					ECT2L_uc011edq.1_Intron	p.R678T	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			15	2136	+			678			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2033G>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086599	0.55861	.	.	ENSG00000203734	ENST00000423192;ENST00000367682	T;T	0.64618	-0.11;-0.11	5.3	4.43	0.53597	Dbl homology (DH) domain (5);	0.000000	0.45126	U	0.000389	T	0.47414	0.1444	L	0.34521	1.04	0.80722	D	1	P	0.51537	0.946	P	0.55391	0.775	T	0.43081	-0.9413	10	0.19147	T	0.46	-2.4798	11.2819	0.49199	0.0862:0.0:0.9138:0.0	.	678	Q008S8	ECT2L_HUMAN	T	678	ENSP00000387388:R678T;ENSP00000356655:R678T	ENSP00000356655:R678T	R	+	2	0	ECT2L	139248340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.627000	0.61276	1.240000	0.43803	0.655000	0.94253	AGA		PASS	0.428	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		3	99	3	99	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143091585	143091585	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:143091585T>A	ENST00000367604.1	-	4	4930	c.4291A>T	c.(4291-4293)Agc>Tgc	p.S1431C	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1431C|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1431C			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1431					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.S1431C(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)		GTGGCCACGCTGTCAGAGGTG	0.527																																					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.(4291-4293)AGC>TGC		human immunodeficiency virus type I enhancer							82.0	82.0	82.0					6																	143091585		1971	4169	6140	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091585T>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.4291A>T	6.37:g.143091585T>A	ENSP00000356576:p.Ser1431Cys						p.S1431C	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5034	-			1431					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4291A>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057817	0.36277	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02863	4.13;4.13;4.13	5.81	3.44	0.39384	.	0.402736	0.32041	N	0.006678	T	0.01695	0.0054	L	0.59436	1.845	0.31081	N	0.711929	P	0.39624	0.681	B	0.39971	0.315	T	0.44922	-0.9296	10	0.45353	T	0.12	-2.6785	10.1503	0.42788	0.0:0.1345:0.0:0.8655	.	1431	P31629	ZEP2_HUMAN	C	1431	ENSP00000356576:S1431C;ENSP00000356575:S1431C;ENSP00000012134:S1431C	ENSP00000012134:S1431C	S	-	1	0	HIVEP2	143133278	1.000000	0.71417	0.415000	0.26534	0.832000	0.47134	2.048000	0.41278	0.474000	0.27392	0.533000	0.62120	AGC		PASS	0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			25	71	25	71	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146243814	146243814	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:146243814C>T	ENST00000367505.2	-	19	3968	c.3704G>A	c.(3703-3705)aGa>aAa	p.R1235K	SHPRH_ENST00000367503.3_Missense_Mutation_p.R1239K|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1235K|SHPRH_ENST00000438092.2_Missense_Mutation_p.R1239K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1235					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1239K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGAGGAAGTCTGGCTGGTCG	0.403																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3703-3705)AGA>AAA		SNF2 histone linker PHD RING helicase isoform a							77.0	77.0	77.0					6																	146243814		1867	4096	5963	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146243814C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3704G>A	6.37:g.146243814C>T	ENSP00000356475:p.Arg1235Lys					SHPRH_uc003qld.2_Missense_Mutation_p.R1239K|SHPRH_uc003qle.2_Missense_Mutation_p.R1239K|SHPRH_uc003qlg.1_Missense_Mutation_p.R791K|SHPRH_uc003qlh.2_Missense_Mutation_p.R160K|SHPRH_uc003qli.1_Missense_Mutation_p.R160K	p.R1235K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	19	4103	-		Ovarian(120;0.0365)	1235					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3704G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867785	0.72065	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.73789	-0.77;-0.78;-0.77;-0.77	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.32530	0.975	0.80722	D	1	B;D;D	0.76494	0.004;0.998;0.999	B;D;D	0.80764	0.004;0.986;0.994	T	0.66320	-0.5953	10	0.10111	T	0.7	-21.6536	19.0974	0.93258	0.0:1.0:0.0:0.0	.	434;1235;1239	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	1235;1239;1239;1235	ENSP00000356475:R1235K;ENSP00000356473:R1239K;ENSP00000412797:R1239K;ENSP00000275233:R1235K	ENSP00000275233:R1235K	R	-	2	0	SHPRH	146285507	1.000000	0.71417	0.872000	0.34217	0.803000	0.45373	7.616000	0.83018	2.593000	0.87608	0.650000	0.86243	AGA		PASS	0.403	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		43	58	43	58	---	---	---	---
RAET1G	353091	broad.mit.edu	37	6	150240831	150240831	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:150240831C>G	ENST00000367360.2	-	2	274	c.207G>C	c.(205-207)aaG>aaC	p.K69N	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.K69N|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.K69N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GTGTGACTGTCTTGCTGCCAC	0.517																																						uc010kii.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)AAG>AAC		retinoic acid early transcript 1G precursor							273.0	256.0	262.0					6																	150240831		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240831C>G	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.207G>C	6.37:g.150240831C>G	ENSP00000356329:p.Lys69Asn					RAET1G_uc003qnm.2_RNA	p.K69N	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	275	-		Ovarian(120;0.0907)	69			MHC class I alpha-1 like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000367360.2	37	c.207G>C	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	C	0.889	-0.726180	0.03158	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.06371	3.31;3.31	1.91	-3.82	0.04281	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00936	0.0031	N	0.11789	0.175	0.09310	N	1	B	0.14012	0.009	B	0.24701	0.055	T	0.48222	-0.9054	9	0.72032	D	0.01	.	2.9305	0.05797	0.1503:0.2009:0.5145:0.1343	.	69	Q6H3X3	RET1G_HUMAN	N	69	ENSP00000356329:K69N;ENSP00000417503:K69N	ENSP00000356329:K69N	K	-	3	2	RAET1G	150282524	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.459000	0.00464	-1.866000	0.01145	0.505000	0.49811	AAG		PASS	0.517	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	364	5	364	---	---	---	---
RAET1L	154064	broad.mit.edu	37	6	150343258	150343258	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:150343258C>G	ENST00000367341.1	-	2	206	c.207G>C	c.(205-207)aaG>aaC	p.K69N	RAET1L_ENST00000286380.2_Missense_Mutation_p.K69N			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	69	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K69N(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GTGTGACTGTCTTGTTGCCAC	0.507																																						uc011eei.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)AAG>AAC		retinoic acid early transcript 1L precursor							158.0	127.0	137.0					6																	150343258		2201	4300	6501	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150343258C>G	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.207G>C	6.37:g.150343258C>G	ENSP00000356310:p.Lys69Asn						p.K69N	NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	2	268	-		Ovarian(120;0.028)	69			MHC class I alpha-1 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.207G>C	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	c	0.134	-1.110532	0.01813	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.06371	3.31;3.31	1.91	-3.05	0.05396	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00906	0.0030	N	0.10916	0.065	0.09310	N	1	B	0.18013	0.025	B	0.25140	0.058	T	0.48222	-0.9054	9	0.66056	D	0.02	.	2.266	0.04078	0.418:0.2656:0.0:0.3164	.	69	Q5VY80	RET1L_HUMAN	N	69	ENSP00000356310:K69N;ENSP00000286380:K69N	ENSP00000286380:K69N	K	-	3	2	RAET1L	150384951	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.814000	0.01723	-0.959000	0.03618	-0.500000	0.04577	AAG		PASS	0.507	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		45	145	45	145	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152565699	152565699	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:152565699C>A	ENST00000367255.5	-	106	20266	c.19665G>T	c.(19663-19665)ccG>ccT	p.P6555P	SYNE1_ENST00000356820.4_Silent_p.P1079P|SYNE1_ENST00000341594.5_Silent_p.P6167P|SYNE1_ENST00000265368.4_Silent_p.P6555P|SYNE1_ENST00000423061.1_Silent_p.P6484P|SYNE1_ENST00000448038.1_Silent_p.P6484P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6555					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.P6555P(2)|p.P6484P(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)		CTTGCATGGACGGCTGCTCGA	0.443										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19663-19665)CCG>CCT		spectrin repeat containing, nuclear envelope 1							160.0	145.0	150.0					6																	152565699		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152565699C>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.19665G>T	6.37:g.152565699C>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.P1079P|SYNE1_uc003qos.3_Silent_p.P1079P|SYNE1_uc003qot.3_Silent_p.P6484P|SYNE1_uc003qou.3_Silent_p.P6555P	p.P6555P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	106	20267	-		Ovarian(120;0.0955)	6555			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.19665G>T	CCDS5236.2																																																																																				PASS	0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	126	31	126	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152615100	152615100	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:152615100T>G	ENST00000367255.5	-	94	18446	c.17845A>C	c.(17845-17847)Aat>Cat	p.N5949H	SYNE1_ENST00000356820.4_Missense_Mutation_p.N473H|SYNE1_ENST00000341594.5_Missense_Mutation_p.N5561H|SYNE1_ENST00000265368.4_Missense_Mutation_p.N5949H|SYNE1_ENST00000423061.1_Missense_Mutation_p.N5878H|SYNE1_ENST00000448038.1_Missense_Mutation_p.N5878H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5949					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.N5949H(2)|p.N5878H(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)		CTTACCACATTCTTTAAGGTT	0.473										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.(17845-17847)AAT>CAT		spectrin repeat containing, nuclear envelope 1							93.0	90.0	91.0					6																	152615100		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.chr6:152615100T>G	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.17845A>C	6.37:g.152615100T>G	ENSP00000356224:p.Asn5949His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.N473H|SYNE1_uc003qos.3_Missense_Mutation_p.N473H|SYNE1_uc003qot.3_Missense_Mutation_p.N5878H|SYNE1_uc003qou.3_Missense_Mutation_p.N5949H|SYNE1_uc010kiy.1_Missense_Mutation_p.N124H	p.N5949H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	94	18447	-		Ovarian(120;0.0955)	5949			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.17845A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308996	0.81247	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	4.79	4.79	0.61399	.	0.000000	0.51477	D	0.000100	T	0.48187	0.1486	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.53676	-0.8405	10	0.66056	D	0.02	.	14.336	0.66589	0.0:0.0:0.0:1.0	.	364;5949;5949;5878	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5949;5878;5949;5878;5561;473;124;171	ENSP00000356224:N5949H;ENSP00000396024:N5878H;ENSP00000265368:N5949H;ENSP00000390975:N5878H;ENSP00000341887:N5561H;ENSP00000349276:N473H;ENSP00000437411:N124H	ENSP00000265368:N5949H	N	-	1	0	SYNE1	152656793	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.698000	0.84413	1.777000	0.52277	0.533000	0.62120	AAT		PASS	0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	112	28	112	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152779985	152779985	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:152779985C>T	ENST00000367255.5	-	22	3076	c.2475G>A	c.(2473-2475)acG>acA	p.T825T	SYNE1_ENST00000495090.2_Silent_p.T392T|SYNE1_ENST00000341594.5_Silent_p.T832T|SYNE1_ENST00000413186.2_Silent_p.T825T|SYNE1_ENST00000367248.3_Silent_p.T815T|SYNE1_ENST00000265368.4_Silent_p.T825T|SYNE1_ENST00000367253.4_Silent_p.T825T|SYNE1_ENST00000423061.1_Silent_p.T832T|SYNE1_ENST00000448038.1_Silent_p.T832T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	825					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.T825T(2)|p.T832T(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)		CATAAAAGGACGTCATCTGCT	0.388										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2473-2475)ACG>ACA		spectrin repeat containing, nuclear envelope 1							112.0	105.0	107.0					6																	152779985		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152779985C>T	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.2475G>A	6.37:g.152779985C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.T832T|SYNE1_uc003qou.3_Silent_p.T825T|SYNE1_uc010kjb.1_Silent_p.T808T|SYNE1_uc003qow.2_Silent_p.T120T|SYNE1_uc003qox.1_Silent_p.T341T|SYNE1_uc003qoz.2_Silent_p.T257T|SYNE1_uc003qoy.2_Silent_p.T392T	p.T825T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	22	3077	-		Ovarian(120;0.0955)	825			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.2475G>A	CCDS5236.2																																																																																				PASS	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	102	25	102	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161574442	161574442	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:161574442G>C	ENST00000320285.4	-	5	812	c.600C>G	c.(598-600)ctC>ctG	p.L200L	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	200					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L200L(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GGTGATGCTTGAGGCGAGGCA	0.597											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qtr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)CTC>CTG		1-acylglycerol-3-phosphate O-acyltransferase 4							96.0	69.0	78.0					6																	161574442		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161574442G>C	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.600C>G	6.37:g.161574442G>C			OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1817	AGPAT4_uc003qts.1_Silent_p.L60L|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	p.L200L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	5	827	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	200					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.600C>G	CCDS5280.1																																																																																				PASS	0.597	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		5	26	5	26	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169632819	169632819	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:169632819G>T	ENST00000366787.3	-	13	2121	c.1872C>A	c.(1870-1872)ccC>ccA	p.P624P	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	624					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P624P(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTCTGTATCGGGGCGGGCAGG	0.647																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1870-1872)CCC>CCA		thrombospondin 2 precursor							62.0	64.0	63.0					6																	169632819		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632819G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1872C>A	6.37:g.169632819G>T							p.P624P	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	13	2120	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	624			EGF-like 2; calcium-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1872C>A	CCDS34574.1																																																																																				PASS	0.647	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		56	44	56	44	---	---	---	---
FTSJ2	29960	broad.mit.edu	37	7	2281800	2281800	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:2281800G>A	ENST00000242257.8	-	1	33	c.5C>T	c.(4-6)gCg>gTg	p.A2V	NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Missense_Mutation_p.A2V|FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|NUDT1_ENST00000339737.2_5'Flank|NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000343985.4_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)									p.A2V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		AGCTCACCCCGCCATTGGTGT	0.726																																						uc003slm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCG>GTG		FtsJ homolog 2							7.0	13.0	11.0					7																	2281800		2068	4119	6187	SO:0001583	missense	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2281800G>A	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.5C>T	7.37:g.2281800G>A	ENSP00000242257:p.Ala2Val					FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	p.A2V	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	1	34	-		Ovarian(82;0.0253)	2						Missense_Mutation	SNP	ENST00000242257.8	37	c.5C>T	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741584	0.49151	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.43294	0.95;1.47	1.98	1.98	0.26296	.	2.700360	0.01716	U	0.027997	T	0.31544	0.0800	L	0.29908	0.895	0.09310	N	0.999998	B	0.34241	0.444	B	0.25291	0.059	T	0.35025	-0.9805	10	0.62326	D	0.03	.	7.4764	0.27378	0.0:0.0:1.0:0.0	.	2	Q9UI43	RRMJ2_HUMAN	V	2	ENSP00000242257:A2V;ENSP00000392343:A2V	ENSP00000242257:A2V	A	-	2	0	FTSJ2	2248326	0.334000	0.24739	0.257000	0.24404	0.319000	0.28217	1.213000	0.32407	1.410000	0.46936	0.561000	0.74099	GCG		PASS	0.726	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393		23	4	23	4	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5105001	5105001	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:5105001C>T	ENST00000353796.3	+	6	2238	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Silent_p.L638L	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	638	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L638L(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTCAAACCTCACTGTCCACT	0.388																																						uc010kss.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(1912-1914)CTC>CTT		RB-associated KRAB repressor							97.0	104.0	102.0					7																	5105001		2203	4299	6502	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5105001C>T	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1914C>T	7.37:g.5105001C>T						LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.L638L	p.L638L	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	2238	+		Ovarian(82;0.0175)	638			C2H2-type 14.|Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.1914C>T	CCDS5337.1																																																																																				PASS	0.388	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		31	197	31	197	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20698188	20698188	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:20698188G>A	ENST00000404938.2	+	14	2248	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	ABCB5_ENST00000443026.2_Silent_p.R87R|ABCB5_ENST00000406935.1_Silent_p.R87R|ABCB5_ENST00000258738.6_Silent_p.R87R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	532	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R87R(2)|p.R532R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAAACAGAGGATCGCAATTG	0.438																																						uc003suw.3																			3	Substitution - coding silent(3)		lung(3)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(259-261)AGG>AGA		ATP-binding cassette, sub-family B, member 5							132.0	116.0	121.0					7																	20698188		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698188G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1596G>A	7.37:g.20698188G>A						ABCB5_uc010kuh.2_Silent_p.R532R|ABCB5_uc003suv.3_Silent_p.R87R|ABCB5_uc011jyi.1_Silent_p.R87R	p.R87R	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			5	807	+			87			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.261G>A	CCDS55090.1																																																																																				PASS	0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		15	98	15	98	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21882171	21882171	+	Missense_Mutation	SNP	G	G	C	rs375965591		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:21882171G>C	ENST00000409508.3	+	66	10732	c.10701G>C	c.(10699-10701)agG>agC	p.R3567S	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3574S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3574	AAA 5. {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.R3574S(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						GGTATATCAGGATTGGAGATA	0.383									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10720-10722)AGG>AGC		dynein, axonemal, heavy chain 11							112.0	106.0	108.0					7																	21882171		1876	4105	5981	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.chr7:21882171G>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.10701G>C	7.37:g.21882171G>C	ENSP00000475939:p.Arg3567Ser						p.R3574S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			67	10753	+			3574			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10722G>C		.	.	.	.	.	.	.	.	.	.	G	12.63	1.994565	0.35226	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.36	4.49	0.54785	.	0.487974	0.23916	N	0.043294	T	0.21427	0.0516	.	.	.	0.31519	N	0.66265	B	0.26635	0.155	B	0.33254	0.16	T	0.19160	-1.0314	9	0.87932	D	0	.	10.13	0.42674	0.1629:0.0:0.8371:0.0	.	3574	Q96DT5	DYH11_HUMAN	S	3574	ENSP00000330671:R3574S	ENSP00000330671:R3574S	R	+	3	2	DNAH11	21848696	0.995000	0.38212	0.974000	0.42286	0.759000	0.43091	1.946000	0.40283	1.261000	0.44149	0.655000	0.94253	AGG		PASS	0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	90	6	90	---	---	---	---
HNRNPA2B1	3181	broad.mit.edu	37	7	26236961	26236961	+	Missense_Mutation	SNP	C	C	G	rs542884101		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:26236961C>G	ENST00000354667.4	-	4	442	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E80Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	92	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.E80Q(1)|p.E92Q(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGTTTTGGCTCAACTACTCTC	0.423			T	ETV1	prostate																																	uc003sxr.3				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(274-276)GAG>CAG		heterogeneous nuclear ribonucleoprotein A2/B1							217.0	190.0	199.0					7																	26236961		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236961C>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.274G>C	7.37:g.26236961C>G	ENSP00000346694:p.Glu92Gln					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E80Q	p.E92Q	NM_031243	NP_112533	P22626	ROA2_HUMAN			4	490	-			92			RRM 1.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.274G>C	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409601	0.83340	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.91996	-2.95;-2.95	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	D	0.95856	0.8651	M	0.80028	2.48	0.50467	D	0.999879	D;D	0.61080	0.989;0.97	P;P	0.58820	0.846;0.693	D	0.95555	0.8624	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	80;92	P22626-2;P22626	.;ROA2_HUMAN	Q	92;80;80	ENSP00000346694:E92Q;ENSP00000349101:E80Q	ENSP00000346694:E92Q	E	-	1	0	HNRNPA2B1	26203486	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.747000	0.85070	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.423	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		55	411	55	411	---	---	---	---
RP9	6100	broad.mit.edu	37	7	33135041	33135041	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:33135041T>C	ENST00000297157.3	-	6	488	c.471A>G	c.(469-471)atA>atG	p.I157M		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	157					cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I157M(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTAACTGCTGTATCCTAAACA	0.348																																						uc003tdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)ATA>ATG		retinitis pigmentosa 9							37.0	38.0	38.0					7																	33135041		2203	4297	6500	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33135041T>C	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.471A>G	7.37:g.33135041T>C	ENSP00000297157:p.Ile157Met						p.I157M	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		6	489	-			157						Missense_Mutation	SNP	ENST00000297157.3	37	c.471A>G	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787567	0.49997	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	T;D	0.84298	-0.83;-1.83	3.83	0.804	0.18697	.	0.175325	0.47455	D	0.000230	D	0.88284	0.6395	M	0.69823	2.125	0.40968	D	0.984675	D	0.67145	0.996	D	0.66497	0.944	D	0.86039	0.1518	10	0.66056	D	0.02	-33.384	6.2359	0.20762	0.1456:0.0:0.3966:0.4578	.	157	Q8TA86	RP9_HUMAN	M	157;123	ENSP00000297157:I157M;ENSP00000411577:I123M	ENSP00000297157:I157M	I	-	3	3	RP9	33101566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.550000	0.23345	0.468000	0.27243	0.460000	0.39030	ATA		PASS	0.348	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		90	23	90	23	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47873943	47873943	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:47873943T>C	ENST00000289672.2	-	40	6218	c.6168A>G	c.(6166-6168)ccA>ccG	p.P2056P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2056					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P2056P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTACCTTGCGTGGCTCCTGTG	0.433																																						uc003tny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6166-6168)CCA>CCG		polycystin-1L1							142.0	127.0	132.0					7																	47873943		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47873943T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6168A>G	7.37:g.47873943T>C							p.P2056P	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			40	6168	-			2056			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.6168A>G	CCDS34633.1																																																																																				PASS	0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		39	34	39	34	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48312039	48312039	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:48312039G>A	ENST00000435803.1	+	17	2800	c.2776G>A	c.(2776-2778)Gca>Aca	p.A926T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	926					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A926T(1)|p.A871T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCAGGAATGCATCTGATCT	0.393																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2776-2778)GCA>ACA		ATP binding cassette, sub-family A (ABC1),							64.0	60.0	61.0					7																	48312039		1860	4102	5962	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312039G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2776G>A	7.37:g.48312039G>A	ENSP00000411096:p.Ala926Thr					ABCA13_uc010kyr.2_Missense_Mutation_p.A429T	p.A926T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	2801	+			926					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2776G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	1.095	-0.662724	0.03454	.	.	ENSG00000179869	ENST00000435803	D	0.85773	-2.03	5.57	-0.489	0.12052	.	1.445340	0.04423	N	0.367855	T	0.71813	0.3384	N	0.21448	0.665	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.52888	-0.8515	10	0.22706	T	0.39	.	1.7224	0.02915	0.3492:0.131:0.3867:0.1331	.	926	Q86UQ4	ABCAD_HUMAN	T	926	ENSP00000411096:A926T	ENSP00000411096:A926T	A	+	1	0	ABCA13	48282585	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.674000	0.05233	-0.050000	0.13356	0.655000	0.94253	GCA		PASS	0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		88	28	88	28	---	---	---	---
VOPP1	81552	broad.mit.edu	37	7	55565340	55565340	+	Missense_Mutation	SNP	G	G	A	rs564823906		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:55565340G>A	ENST00000285279.5	-	3	357	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	VOPP1_ENST00000427700.1_Missense_Mutation_p.R51W|VOPP1_ENST00000433959.1_Missense_Mutation_p.R44W|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000545390.1_Missense_Mutation_p.R50W|VOPP1_ENST00000418904.1_Missense_Mutation_p.R36W|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000454227.1_Intron|VOPP1_ENST00000453256.1_5'UTR	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	53					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)	p.R53W(2)|p.A15V(2)		endometrium(1)|lung(4)	5						GAGAGGGCCCGCACACAGCAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14824	0.0		0.0	False		,,,				2504	0.0					uc003tqs.2																			4	Substitution - Missense(4)		lung(4)		0						c.(157-159)CGG>TGG		EGFR-coamplified and overexpressed protein							55.0	65.0	61.0					7																	55565340		2084	4210	6294	SO:0001583	missense	81552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	g.chr7:55565340G>A		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.157C>T	7.37:g.55565340G>A	ENSP00000285279:p.Arg53Trp					VOPP1_uc003tqq.2_Missense_Mutation_p.R44W|VOPP1_uc010kzh.2_Missense_Mutation_p.R50W|VOPP1_uc010kzi.2_Missense_Mutation_p.R36W|VOPP1_uc011kcr.1_5'UTR	p.R53W	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN			3	340	-			53			Extracellular (Potential).		B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	c.157C>T	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681437	0.68042	.	.	ENSG00000154978	ENST00000285279;ENST00000433959;ENST00000545390;ENST00000418904;ENST00000427700	.	.	.	4.95	4.06	0.47325	.	.	.	.	.	T	0.64371	0.2592	L	0.29908	0.895	0.48087	D	0.999585	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.997	T	0.67292	-0.5707	8	0.87932	D	0	-15.6602	12.6143	0.56567	0.0:0.0:0.8336:0.1664	.	36;50;53;44	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	W	53;44;50;36;51	.	ENSP00000285279:R53W	R	-	1	2	VOPP1	55532834	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.734000	0.38166	1.040000	0.40099	0.313000	0.20887	CGG		PASS	0.627	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		4	233	4	233	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55910746	55910746	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:55910746G>T	ENST00000388975.3	-	5	563	c.447C>A	c.(445-447)tcC>tcA	p.S149S	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	149	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.S149S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTCAAACAAGGAACGTTTAA	0.373																																						uc003tqz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)TCC>TCA		septin 14							95.0	88.0	90.0					7																	55910746		1888	4125	6013	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55910746G>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.447C>A	7.37:g.55910746G>T							p.S149S	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	564	-	Breast(14;0.214)		149					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.447C>A	CCDS5519.2																																																																																				PASS	0.373	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		24	36	24	36	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64167545	64167545	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:64167545A>T	ENST00000395391.1	+	4	2238	c.863A>T	c.(862-864)aAt>aTt	p.N288I	ZNF107_ENST00000344930.3_Missense_Mutation_p.N288I|ZNF107_ENST00000423627.1_Missense_Mutation_p.N288I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	288					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.N288I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCAAACCTTAATAAACAGGAG	0.343																																						uc003ttd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)AAT>ATT		zinc finger protein 107							42.0	47.0	45.0					7																	64167545		2198	4299	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167545A>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.863A>T	7.37:g.64167545A>T	ENSP00000378789:p.Asn288Ile					ZNF107_uc003tte.2_Missense_Mutation_p.N288I	p.N288I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1649	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	288			C2H2-type 8; atypical.			Missense_Mutation	SNP	ENST00000395391.1	37	c.863A>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650711	0.29336	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07567	3.18;3.18;3.18	0.916	-1.56	0.08532	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.10629	0.01	0.09310	N	1	B	0.33826	0.427	B	0.32533	0.147	T	0.42155	-0.9468	8	.	.	.	.	1.389	0.02247	0.3588:0.0:0.3021:0.3391	.	288	Q9UII5	ZN107_HUMAN	I	288	ENSP00000343443:N288I;ENSP00000400037:N288I;ENSP00000378789:N288I	.	N	+	2	0	ZNF107	63804980	0.000000	0.05858	0.774000	0.31636	0.771000	0.43674	-3.119000	0.00596	0.257000	0.21650	0.254000	0.18369	AAT		PASS	0.343	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		17	89	17	89	---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65751683	65751683	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:65751683A>C	ENST00000304842.5	+	3	1456	c.1031A>C	c.(1030-1032)gAa>gCa	p.E344A	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	344					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.E344A(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAAATTATTGAAAACACTCGA	0.363																																						uc003tuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)GAA>GCA		tyrosylprotein sulfotransferase 1							86.0	78.0	81.0					7																	65751683		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751683A>C	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.1031A>C	7.37:g.65751683A>C	ENSP00000302413:p.Glu344Ala					TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E344A|TPST1_uc010laa.2_Missense_Mutation_p.E344A	p.E344A	NM_003596	NP_003587	O60507	TPST1_HUMAN			3	1383	+			344			Lumenal (Potential).		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.1031A>C	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	A	9.173	1.021650	0.19433	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	.	.	.	5.56	5.56	0.83823	.	0.056459	0.64402	D	0.000001	T	0.56093	0.1962	L	0.48642	1.525	0.46149	D	0.998897	B;B	0.28783	0.222;0.061	B;B	0.28916	0.096;0.028	T	0.53099	-0.8486	9	0.27785	T	0.31	-23.9247	14.8826	0.70545	1.0:0.0:0.0:0.0	.	344;344	F5H7U7;O60507	.;TPST1_HUMAN	A	344	.	ENSP00000302413:E344A	E	+	2	0	TPST1	65389118	1.000000	0.71417	0.993000	0.49108	0.002000	0.02628	6.363000	0.73082	2.123000	0.65237	0.383000	0.25322	GAA		PASS	0.363	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		46	50	46	50	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	69364300	69364300	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:69364300G>T	ENST00000342771.4	+	2	659	c.338G>T	c.(337-339)cGt>cTt	p.R113L	AUTS2_ENST00000403018.2_Missense_Mutation_p.R113L|AUTS2_ENST00000406775.2_Missense_Mutation_p.R113L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	113								p.R113L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTCAGGAACGTGTGGAGAAA	0.473																																						uc003tvw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(337-339)CGT>CTT		autism susceptibility candidate 2 isoform 1							86.0	79.0	81.0					7																	69364300		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364300G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.338G>T	7.37:g.69364300G>T	ENSP00000344087:p.Arg113Leu					AUTS2_uc003tvv.3_Missense_Mutation_p.R113L|AUTS2_uc003tvx.3_Missense_Mutation_p.R113L	p.R113L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	1081	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	113					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.338G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181702	0.78677	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.39592	1.07;1.09	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	T	0.50786	0.1636	L	0.46157	1.445	0.25043	N	0.991184	P;B;D	0.61697	0.804;0.429;0.99	B;B;P	0.56127	0.372;0.203;0.792	T	0.44697	-0.9311	9	.	.	.	-11.4592	14.7871	0.69810	0.0:0.2577:0.7423:0.0	.	113;113;113	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	L	113	ENSP00000385263:R113L;ENSP00000344087:R113L	.	R	+	2	0	AUTS2	69002236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.796000	0.62496	2.941000	0.99782	0.655000	0.94253	CGT		PASS	0.473	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			21	95	21	95	---	---	---	---
TRIM50	135892	broad.mit.edu	37	7	72732870	72732870	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:72732870T>A	ENST00000333149.2	-	4	877	c.677A>T	c.(676-678)gAg>gTg	p.E226V	TRIM50_ENST00000453152.1_Missense_Mutation_p.E226V	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	226						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E226V(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CAGCACACACTCGGCTTGGGC	0.667																																						uc010lbd.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(676-678)GAG>GTG		tripartite motif protein 50A							90.0	87.0	88.0					7																	72732870		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72732870T>A	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.677A>T	7.37:g.72732870T>A	ENSP00000327994:p.Glu226Val					FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.E226V|TRIM50_uc003txz.1_Missense_Mutation_p.E226V	p.E226V	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			4	802	-			226			Potential.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.677A>T	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475908	0.26511	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65916	-0.18;-0.18	4.36	-2.98	0.05513	.	0.638932	0.14013	N	0.347340	T	0.40145	0.1105	L	0.27053	0.805	0.09310	N	1	B;B	0.26845	0.161;0.1	B;B	0.30495	0.116;0.054	T	0.24835	-1.0149	10	0.45353	T	0.12	.	1.7281	0.02926	0.2568:0.0768:0.2657:0.4007	.	226;226	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	V	226	ENSP00000327994:E226V;ENSP00000413875:E226V	ENSP00000327994:E226V	E	-	2	0	TRIM50	72370806	0.002000	0.14202	0.000000	0.03702	0.493000	0.33554	0.936000	0.28938	-0.756000	0.04703	0.378000	0.23410	GAG		PASS	0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		33	142	33	142	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81594957	81594957	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:81594957C>T	ENST00000356253.5	-	32	2818	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D55N|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D843N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	855					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D843N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AACCCACCATCATCCAGAATC	0.368																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(2527-2529)GAT>AAT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						153.0	136.0	142.0					7																	81594957		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594957C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2563G>A	7.37:g.81594957C>T	ENSP00000348589:p.Asp855Asn					CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N	p.D843N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			32	2783	-			855			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2527G>A		.	.	.	.	.	.	.	.	.	.	C	13.72	2.321307	0.41096	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	D;D;D	0.82344	-1.6;-1.6;-1.6	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	M	0.74647	2.275	0.45354	D	0.998349	D;D	0.89917	1.0;1.0	D;D	0.75484	0.984;0.986	D	0.85496	0.1188	10	0.05620	T	0.96	-24.6422	18.672	0.91514	0.0:1.0:0.0:0.0	.	55;843	B7Z658;P54289-2	.;.	N	843;862;855;55	ENSP00000349320:D843N;ENSP00000348589:D855N;ENSP00000443124:D55N	ENSP00000284088:D862N	D	-	1	0	CACNA2D1	81432893	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.561000	0.67339	2.407000	0.81776	0.591000	0.81541	GAT		PASS	0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				35	304	35	304	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82430892	82430892	+	Silent	SNP	C	C	T	rs201558680		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:82430892C>T	ENST00000333891.9	-	22	15286	c.14949G>A	c.(14947-14949)caG>caA	p.Q4983Q		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q4983Q(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTCCATTCTGTCCCATCT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		15106	0.0		0.001	False		,,,				2504	0.0					uc003uhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)	7						c.(14947-14949)CAG>CAA		piccolo isoform 1							103.0	100.0	101.0					7																	82430892		1818	4079	5897	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82430892C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14949G>A	7.37:g.82430892C>T							p.Q4983Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			22	15238	-			4906						Silent	SNP	ENST00000333891.9	37	c.14949G>A	CCDS47630.1																																																																																				PASS	0.348	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		42	126	42	126	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82585951	82585951	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:82585951C>T	ENST00000333891.9	-	5	4655	c.4318G>A	c.(4318-4320)Gaa>Aaa	p.E1440K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1440K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1440K(2)|p.E1371K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGAAACTTCATGGGGTTGT	0.378																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(4318-4320)GAA>AAA		piccolo isoform 1							130.0	120.0	123.0					7																	82585951		1823	4075	5898	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585951C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4318G>A	7.37:g.82585951C>T	ENSP00000334319:p.Glu1440Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E1440K	p.E1440K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4607	-			1371						Missense_Mutation	SNP	ENST00000333891.9	37	c.4318G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.559	0.877412	0.17395	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.32	5.62	3.38	0.38709	.	.	.	.	.	T	0.12475	0.0303	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.20974	-1.0259	9	0.87932	D	0	.	9.58	0.39481	0.0:0.737:0.0:0.263	.	1440;1440	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1371;1440;1440	ENSP00000334319:E1440K;ENSP00000388393:E1440K	ENSP00000334319:E1440K	E	-	1	0	PCLO	82423887	0.004000	0.15560	0.001000	0.08648	0.566000	0.35808	1.898000	0.39809	1.018000	0.39521	0.655000	0.94253	GAA		PASS	0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		53	150	53	150	---	---	---	---
CROT	54677	broad.mit.edu	37	7	87027960	87027960	+	Nonstop_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:87027960G>C	ENST00000331536.3	+	18	2024	c.1839G>C	c.(1837-1839)taG>taC	p.*613Y	CROT_ENST00000419147.2_Nonstop_Mutation_p.*641Y	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	0					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.*613Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CTCATCTTTAGAGATGAATCA	0.398																																						uc003uit.2																			1	Nonstop extension(1)	p.*613W(1)	lung(1)	ovary(2)|lung(1)	3						c.(1837-1839)TAG>TAC		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						87.0	80.0	82.0					7																	87027960		2203	4300	6503	SO:0001578	stop_lost	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87027960G>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1839G>C	7.37:g.87027960G>C	ENSP00000331981:p.*613Tyrext*2					CROT_uc003uiu.2_Nonstop_Mutation_p.*641Y	p.*613Y	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			18	2084	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		613					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonstop_Mutation	SNP	ENST00000331536.3	37	c.1839G>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253141	0.59212	.	.	ENSG00000005469	ENST00000419147;ENST00000331536	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0027	0.30306	0.1836:0.0:0.8164:0.0	.	.	.	.	Y	641;613	.	.	X	+	3	2	CROT	86865896	0.999000	0.42202	0.998000	0.56505	0.797000	0.45037	2.980000	0.49321	2.894000	0.99253	0.655000	0.94253	TAG		PASS	0.398	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		18	98	18	98	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87196188	87196188	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:87196188C>G	ENST00000265724.3	-	7	860	c.443G>C	c.(442-444)aGa>aCa	p.R148T	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	148	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R148T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAACTGTTTTCTAATTTTGTG	0.428																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(442-444)AGA>ACA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						125.0	127.0	127.0					7																	87196188		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196188C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.443G>C	7.37:g.87196188C>G	ENSP00000265724:p.Arg148Thr					ABCB1_uc011khc.1_Intron	p.R148T	NM_000927	NP_000918	P08183	MDR1_HUMAN			7	861	-	Esophageal squamous(14;0.00164)		148			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.443G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527934	0.85706	.	.	ENSG00000085563	ENST00000265724	D	0.91843	-2.92	5.91	5.03	0.67393	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048615	0.85682	D	0.000000	D	0.97473	0.9173	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.98683	1.0693	10	0.87932	D	0	-25.0676	14.9502	0.71067	0.0:0.9316:0.0:0.0684	.	148	P08183	MDR1_HUMAN	T	148	ENSP00000265724:R148T	ENSP00000265724:R148T	R	-	2	0	ABCB1	87034124	1.000000	0.71417	0.961000	0.40146	0.865000	0.49528	7.818000	0.86416	1.505000	0.48720	0.655000	0.94253	AGA		PASS	0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		3	192	3	192	---	---	---	---
SLC25A40	55972	broad.mit.edu	37	7	87465676	87465676	+	Splice_Site	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:87465676C>G	ENST00000341119.5	-	12	1251	c.905G>C	c.(904-906)gGc>gCc	p.G302A		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	302					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G302A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AGGAATTAGGCCTGAGAAAAG	0.269																																						uc003uje.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(904-906)GGC>GCC		mitochondrial carrier family protein							40.0	41.0	41.0					7																	87465676		2200	4294	6494	SO:0001630	splice_region_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87465676C>G	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.905-1G>C	7.37:g.87465676C>G							p.G302A	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			12	1256	-	Esophageal squamous(14;0.00202)		302			Solcar 3.|Helical; Name=6; (Potential).		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.905G>C	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247073	0.80024	.	.	ENSG00000075303	ENST00000341119	D	0.98531	-4.98	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.099947	0.64402	D	0.000001	D	0.99477	0.9814	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98136	1.0433	10	0.87932	D	0	.	20.0377	0.97569	0.0:1.0:0.0:0.0	.	302	Q8TBP6	S2540_HUMAN	A	302	ENSP00000344831:G302A	ENSP00000344831:G302A	G	-	2	0	SLC25A40	87303612	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	7.247000	0.78257	2.822000	0.97130	0.650000	0.86243	GGC		PASS	0.269	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	Missense_Mutation	17	94	17	94	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027143	92027143	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:92027143C>T	ENST00000265742.3	+	19	2878	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	834							zinc ion binding (GO:0008270)	p.A834A(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACACCCCTGCCAGTCGCTCTG	0.542																																						uc003ulw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2500-2502)GCC>GCT		ankyrin repeat and IBR domain containing 1							162.0	171.0	168.0					7																	92027143		1995	4174	6169	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:92027143C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2502C>T	7.37:g.92027143C>T						ANKIB1_uc010lew.1_Silent_p.A103A	p.A834A	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2878	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		834					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.2502C>T	CCDS47639.1																																																																																				PASS	0.542	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			147	248	147	248	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94038908	94038908	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:94038908C>T	ENST00000297268.6	+	18	1395	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	308					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A308A(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTACTGGTGCCAAGGGTGCTG	0.448										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(922-924)GCC>GCT		alpha 2 type I collagen precursor	Collagenase(DB00048)						141.0	148.0	145.0					7																	94038908		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038908C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.924C>T	7.37:g.94038908C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.A308A	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1395	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		308					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.924C>T	CCDS34682.1																																																																																				PASS	0.448	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		19	164	19	164	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94173843	94173843	+	Splice_Site	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:94173843G>T	ENST00000297273.4	+	11	1763		c.e11+1			NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral component of membrane (GO:0016021)		p.?(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTATGTCAGGTAGGAATGCA	0.328																																						uc003uni.3																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e11+1		CAS1 domain containing 1 precursor							100.0	97.0	98.0					7																	94173843		2203	4300	6503	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94173843G>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1476+1G>T	7.37:g.94173843G>T						CASD1_uc003unj.3_Splice_Site_p.Q492_splice	p.Q492_splice	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	1703	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)							B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37	c.1476_splice	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396818	0.83120	.	.	ENSG00000127995	ENST00000297273	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3938	0.90492	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASD1	94011779	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.822000	0.99363	2.434000	0.82447	0.455000	0.32223	.		PASS	0.328	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Intron	96	147	96	147	---	---	---	---
BAIAP2L1	55971	broad.mit.edu	37	7	97991745	97991745	+	Splice_Site	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:97991745C>G	ENST00000005260.8	-	2	267		c.e2-1		BAIAP2L1_ENST00000462558.1_Splice_Site	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCATAACATTCTGCCAAACAA	0.348																																						uc003upj.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		BAI1-associated protein 2-like 1							62.0	66.0	65.0					7																	97991745		2202	4297	6499	SO:0001630	splice_region_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97991745C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.52-1G>C	7.37:g.97991745C>G							p.N18_splice	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	315	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)							A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Splice_Site	SNP	ENST00000005260.8	37	c.52_splice	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619704	0.66787	.	.	ENSG00000006453	ENST00000005260	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7855	0.69800	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC093799.1	97829681	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.093000	0.71422	2.575000	0.86900	0.591000	0.81541	.		PASS	0.348	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	Intron	5	202	5	202	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98519471	98519471	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:98519471G>A	ENST00000359863.4	+	21	2927	c.2718G>A	c.(2716-2718)ctG>ctA	p.L906L	TRRAP_ENST00000446306.3_Silent_p.L905L|TRRAP_ENST00000355540.3_Silent_p.L906L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	906					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L906L(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGATGCTGAAGGAGTCGC	0.577																																						uc003upp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(2716-2718)CTG>CTA		transformation/transcription domain-associated							174.0	139.0	151.0					7																	98519471		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98519471G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2718G>A	7.37:g.98519471G>A						TRRAP_uc011kis.1_Silent_p.L906L|TRRAP_uc003upr.2_Silent_p.L598L	p.L906L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	2927	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		906					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2718G>A	CCDS59066.1																																																																																				PASS	0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		73	199	73	199	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99221705	99221705	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:99221705C>A	ENST00000394152.2	+	7	1034	c.707C>A	c.(706-708)gCc>gAc	p.A236D	ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.A236D|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	236					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.A236D(1)									AAAGATATGGCCCTGGCCTTC	0.522																																						uc003url.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(706-708)GCC>GAC		zinc finger and SCAN domain containing 25							116.0	121.0	119.0					7																	99221705		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99221705C>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.707C>A	7.37:g.99221705C>A	ENSP00000377708:p.Ala236Asp					ZNF498_uc003urm.1_Missense_Mutation_p.A72D|ZNF498_uc010lge.1_Missense_Mutation_p.A72D|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Missense_Mutation_p.A20D	p.A236D	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			7	1034	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		236					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.707C>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524292	0.64747	.	.	ENSG00000197037	ENST00000394152;ENST00000334715	T;T	0.01152	5.26;5.26	5.29	5.29	0.74685	Krueppel-associated box (1);	0.273612	0.26428	N	0.024429	T	0.04227	0.0117	M	0.72576	2.205	0.80722	D	1	P	0.47106	0.89	P	0.50490	0.642	T	0.19257	-1.0311	10	0.87932	D	0	-6.7029	17.2525	0.87046	0.0:1.0:0.0:0.0	.	236	Q6NSZ9	ZN498_HUMAN	D	236	ENSP00000377708:A236D;ENSP00000334800:A236D	ENSP00000334800:A236D	A	+	2	0	ZNF498	99059641	0.997000	0.39634	0.972000	0.41901	0.989000	0.77384	4.641000	0.61375	2.865000	0.98341	0.655000	0.94253	GCC		PASS	0.522	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		152	219	152	219	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99802726	99802726	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:99802726C>A	ENST00000426455.1	+	28	3457	c.3050C>A	c.(3049-3051)cCc>cAc	p.P1017H	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.P1017H|STAG3_ENST00000394018.2_Missense_Mutation_p.P959H|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1017					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.P1017H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTTTTCCCCCCGACTCTTC	0.552																																						uc003utx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(3049-3051)CCC>CAC		stromal antigen 3							149.0	156.0	153.0					7																	99802726		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99802726C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3050C>A	7.37:g.99802726C>A	ENSP00000400359:p.Pro1017His					STAG3_uc011kjk.1_Missense_Mutation_p.P959H|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.P241H	p.P1017H	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			28	3205	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1017					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3050C>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	13.78	2.340093	0.41398	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000379577;ENST00000317296	T;T;T	0.78707	-1.2;-1.2;-1.2	5.42	5.42	0.78866	.	0.138758	0.33457	N	0.004886	T	0.81240	0.4781	L	0.37630	1.12	0.80722	D	1	B;D;B	0.76494	0.043;0.999;0.056	B;P;B	0.61800	0.119;0.894;0.024	T	0.79867	-0.1622	10	0.36615	T	0.2	-19.6215	16.746	0.85471	0.0:1.0:0.0:0.0	.	959;1017;1017	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	H	1017;959;37;1017	ENSP00000400359:P1017H;ENSP00000377586:P959H;ENSP00000319318:P1017H	ENSP00000319318:P1017H	P	+	2	0	STAG3	99640662	0.733000	0.28132	1.000000	0.80357	0.670000	0.39368	2.709000	0.47160	2.542000	0.85734	0.655000	0.94253	CCC		PASS	0.552	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		181	399	181	399	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99914722	99914722	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:99914722C>T	ENST00000332397.6	+	8	1474	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	SPDYE3_ENST00000437326.2_Silent_p.F53F	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	430								p.F430F(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TAGCGTATTTCAGCCGGGCCG	0.522																																						uc003uug.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(157-159)TTC>TTT		speedy homolog E3							9.0	11.0	11.0					7																	99914722		1088	2186	3274	SO:0001819	synonymous_variant	441272							g.chr7:99914722C>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1290C>T	7.37:g.99914722C>T							p.F53F	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			3	399	+			430					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.159C>T	CCDS47658.2																																																																																				PASS	0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		43	369	43	369	---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99964979	99964979	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:99964979G>T	ENST00000452089.1	+	9	1722	c.663G>T	c.(661-663)agG>agT	p.R221S	PILRB_ENST00000609309.1_Missense_Mutation_p.R221S|PILRB_ENST00000610247.1_Missense_Mutation_p.R221S|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Missense_Mutation_p.R221S|PILRB_ENST00000448382.1_3'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	221					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.R221S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					caggtagcagggcgccaagca	0.542																																						uc003uuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)AGG>AGT		paired immunoglobulin-like type 2 receptor beta							75.0	79.0	78.0					7																	99964979		2061	4207	6268	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99964979G>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.663G>T	7.37:g.99964979G>T	ENSP00000391748:p.Arg221Ser					PILRB_uc003uul.2_3'UTR|PILRB_uc003uun.2_Missense_Mutation_p.R221S	p.R221S	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			18	3159	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		221			Cytoplasmic (Potential).		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.663G>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	G	5.663	0.306961	0.10733	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000444073;ENST00000413850	T;T;T	0.25250	1.81;1.81;1.81	0.555	0.555	0.17247	.	1.739160	0.03572	N	0.228829	T	0.16428	0.0395	N	0.19112	0.55	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.20240	-1.0281	8	.	.	.	.	.	.	.	.	221	Q9UKJ0	PILRB_HUMAN	S	221;221;221;221;326	ENSP00000311153:R221S;ENSP00000391748:R221S;ENSP00000410764:R221S	.	R	+	3	2	PILRB	99802915	0.023000	0.18921	0.003000	0.11579	0.003000	0.03518	0.892000	0.28322	0.545000	0.28902	0.407000	0.27541	AGG		PASS	0.542	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		28	152	28	152	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100029210	100029210	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:100029210C>T	ENST00000310512.2	+	1	1957	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_Silent_p.F54F|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	523	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.F523F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGCTGCTTCCCAGCCTCGC	0.627																																						uc003uuw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1567-1569)TTC>TTT		bin3, bicoid-interacting 3							34.0	31.0	32.0					7																	100029210		2203	4296	6499	SO:0001819	synonymous_variant	56257						methyltransferase activity	g.chr7:100029210C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1569C>T	7.37:g.100029210C>T						ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_Silent_p.F54F	p.F523F	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	1682	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		523			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	c.1569C>T	CCDS5693.1																																																																																				PASS	0.627	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			26	83	26	83	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100473227	100473227	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:100473227G>A	ENST00000347433.4	+	2	174	c.16G>A	c.(16-18)Gac>Aac	p.D6N	SRRT_ENST00000432932.1_Missense_Mutation_p.D6N|SRRT_ENST00000388793.4_Missense_Mutation_p.D6N|SRRT_ENST00000457580.2_Missense_Mutation_p.D6N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	6					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D6N(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGACAGTGATGACGAGTACGA	0.622																																						uc003uwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(16-18)GAC>AAC		arsenate resistance protein 2 isoform a							110.0	108.0	109.0					7																	100473227		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100473227G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.16G>A	7.37:g.100473227G>A	ENSP00000314491:p.Asp6Asn					SRRT_uc010lhl.1_Missense_Mutation_p.D6N|SRRT_uc003uxa.2_Missense_Mutation_p.D6N|SRRT_uc003uwz.2_Missense_Mutation_p.D6N	p.D6N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			3	284	+			6					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.16G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109031	0.94292	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.993	D;D;D;D	0.77557	0.99;0.99;0.99;0.977	T	0.78526	-0.2170	9	0.72032	D	0.01	.	14.2294	0.65882	0.0:0.0:1.0:0.0	.	6;6;6;6	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	6;6;6;6;13	.	ENSP00000314491:D6N	D	+	1	0	SRRT	100311163	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.628000	0.90979	2.191000	0.70037	0.561000	0.74099	GAC		PASS	0.622	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		36	235	36	235	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100853379	100853379	+	Missense_Mutation	SNP	C	C	G	rs140879834	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:100853379C>G	ENST00000223127.3	-	15	2076	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	560					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.E560Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTCACCTGCTCCACGATTCCT	0.632													C|||	3	0.000599042	0.0	0.0	5008	,	,		12061	0.0		0.0	False		,,,				2504	0.0031					uc003uyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1678-1680)GAG>CAG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)	C	GLN/GLU	0,4404		0,0,2202	37.0	27.0	30.0		1678	5.0	1.0	7	dbSNP_134	30	6,8594		0,6,4294	yes	missense	PLOD3	NM_001084.4	29	0,6,6496	GG,GC,CC		0.0698,0.0,0.0461	benign	560/739	100853379	6,12998	2202	4300	6502	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100853379C>G	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1678G>C	7.37:g.100853379C>G	ENSP00000223127:p.Glu560Gln					PLOD3_uc010lhs.2_Missense_Mutation_p.E125Q	p.E560Q	NM_001084	NP_001075	O60568	PLOD3_HUMAN			15	2134	-	Lung NSC(181;0.168)|all_lung(186;0.215)		560					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.1678G>C	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.744131|2.744131	0.49151|0.49151	0.0|0.0	6.98E-4|6.98E-4	ENSG00000106397|ENSG00000106397	ENST00000223127|ENST00000454310	D|.	0.84800|.	-1.9|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.46819|0.46819	1.47|1.47	0.49687|0.49687	D|D	0.999814|0.999814	B;P|.	0.39847|.	0.26;0.691|.	B;B|.	0.38921|.	0.117;0.285|.	T|T	0.58434|0.58434	-0.7637|-0.7637	10|5	0.29301|.	T|.	0.29|.	-23.6211|-23.6211	13.8529|13.8529	0.63508|0.63508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	187;560|.	Q9UG85;O60568|.	.;PLOD3_HUMAN|.	Q|C	560|134	ENSP00000223127:E560Q|.	ENSP00000223127:E560Q|.	E|W	-|-	1|3	0|0	PLOD3|PLOD3	100640099|100640099	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.258000|0.258000	0.26162|0.26162	5.624000|5.624000	0.67764|0.67764	2.348000|2.348000	0.79779|0.79779	0.561000|0.561000	0.74099|0.74099	GAG|TGG		PASS	0.632	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			3	16	3	16	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102584869	102584869	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:102584869C>G	ENST00000339431.4	+	4	1436	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	381	LRRCT 2.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.P381A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGCAAAACGCCTGAAGAATA	0.403																																						uc003vau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)CCT>GCT		leucine rich repeat containing 17 isoform 1							104.0	99.0	100.0					7																	102584869		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584869C>G	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1141C>G	7.37:g.102584869C>G	ENSP00000344242:p.Pro381Ala					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	p.P381A	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			4	1530	+			381			LRRCT 2.		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.1141C>G	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773510	0.90108	.	.	ENSG00000128606	ENST00000339431	T	0.76060	-0.99	5.79	5.79	0.91817	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000018	T	0.80529	0.4640	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.82086	-0.0631	10	0.72032	D	0.01	-11.9996	20.0313	0.97540	0.0:1.0:0.0:0.0	.	381	Q8N6Y2	LRC17_HUMAN	A	381	ENSP00000344242:P381A	ENSP00000344242:P381A	P	+	1	0	LRRC17	102372105	1.000000	0.71417	0.662000	0.29724	0.987000	0.75469	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	CCT		PASS	0.403	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		33	272	33	272	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102665558	102665558	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:102665558C>T	ENST00000313221.4	-	6	873	c.447G>A	c.(445-447)gaG>gaA	p.E149E	FBXL13_ENST00000393772.2_Silent_p.E149E|FBXL13_ENST00000379306.3_Silent_p.E149E|FBXL13_ENST00000379305.3_Silent_p.E149E|FBXL13_ENST00000456695.1_Silent_p.E149E|FBXL13_ENST00000379308.3_Silent_p.E149E|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.E149E|FBXL13_ENST00000436908.1_Silent_p.E149E	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATTTTAGAGTCTCATCTACAA	0.333																																						uc003vaq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GAG>GAA		F-box and leucine-rich repeat protein 13 isoform							57.0	56.0	56.0					7																	102665558		2202	4297	6499	SO:0001819	synonymous_variant	222235							g.chr7:102665558C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.447G>A	7.37:g.102665558C>T						FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Silent_p.E149E|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.E149E|FBXL13_uc003vav.2_RNA	p.E149E	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			6	874	-			149					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.447G>A	CCDS5726.1																																																																																				PASS	0.333	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		39	34	39	34	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106513008	106513008	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:106513008T>G	ENST00000359195.3	+	3	2332	c.2022T>G	c.(2020-2022)gaT>gaG	p.D674E	PIK3CG_ENST00000496166.1_Missense_Mutation_p.D674E|PIK3CG_ENST00000440650.2_Missense_Mutation_p.D674E	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	674	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D674E(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATACCATGATAGCGCCCTTG	0.393																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2020-2022)GAT>GAG		phosphoinositide-3-kinase, catalytic, gamma							206.0	195.0	199.0					7																	106513008		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513008T>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2022T>G	7.37:g.106513008T>G	ENSP00000352121:p.Asp674Glu					PIK3CG_uc003vdu.2_Missense_Mutation_p.D674E|PIK3CG_uc003vdw.2_Missense_Mutation_p.D674E	p.D674E	NM_002649	NP_002640	P48736	PK3CG_HUMAN			3	2107	+			674					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2022T>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360703	0.82353	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65549	-0.16;-0.16;-0.16	5.62	1.54	0.23209	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.62723	1.935	0.53688	D	0.999975	D	0.56035	0.974	P	0.58130	0.833	T	0.65660	-0.6114	10	0.40728	T	0.16	-33.3454	10.4819	0.44698	0.0:0.7444:0.0:0.2556	.	674	P48736	PK3CG_HUMAN	E	674	ENSP00000392258:D674E;ENSP00000419260:D674E;ENSP00000352121:D674E	ENSP00000352121:D674E	D	+	3	2	PIK3CG	106300244	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	0.329000	0.23460	-0.290000	0.09829	GAT		PASS	0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			31	237	31	237	---	---	---	---
C7orf66	154907	broad.mit.edu	37	7	108524212	108524212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:108524212G>T	ENST00000379007.2	-	2	254	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	67						integral component of membrane (GO:0016021)		p.S67*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATATTGAGCTGAGAATTCCTC	0.423																																						uc003vfo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(199-201)TCA>TAA		hypothetical protein LOC154907							187.0	159.0	168.0					7																	108524212		2203	4300	6503	SO:0001587	stop_gained	154907					integral to membrane		g.chr7:108524212G>T	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.200C>A	7.37:g.108524212G>T	ENSP00000368292:p.Ser67*						p.S67*	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	248	-			67						Nonsense_Mutation	SNP	ENST00000379007.2	37	c.200C>A	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684110	0.47991	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.51767	D	0.999935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4539	0.16580	0.1121:0.2039:0.684:0.0	.	.	.	.	X	67	.	.	S	-	2	0	C7orf66	108311448	0.299000	0.24426	0.004000	0.12327	0.174000	0.22865	0.586000	0.23894	0.576000	0.29452	0.563000	0.77884	TCA		PASS	0.423	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		117	194	117	194	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117149087	117149087	+	Splice_Site	SNP	G	G	T	rs397508249		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:117149087G>T	ENST00000003084.6	+	3	296		c.e3-1		CFTR_ENST00000454343.1_Splice_Site	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTCTTTTGCAGAGAATGGGAT	0.348									Cystic Fibrosis																													uc003vjd.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CS000849	CFTR	S		c.e3-1		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						100.0	109.0	106.0					7																	117149087		2203	4300	6503	SO:0001630	splice_region_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117149087G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.165-1G>T	7.37:g.117149087G>T						CFTR_uc011knq.1_Splice_Site	p.R55_splice	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		3	297	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)							Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	c.165_splice	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476584	0.84640	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7786	0.96409	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFTR	116936323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.681000	0.91329	0.591000	0.81541	.		PASS	0.348	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Intron	69	118	69	118	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127223192	127223192	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:127223192C>T	ENST00000321407.2	-	2	1628	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	402					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.D402N(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTCCAGGTCCAGCTGCAGA	0.532																																						uc003vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1204-1206)GAC>AAC		Golgi coiled-coil protein 1							80.0	77.0	78.0					7																	127223192		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223192C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1204G>A	7.37:g.127223192C>T	ENSP00000318821:p.Asp402Asn						p.D402N	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	1622	-			402			Potential.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1204G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366251	0.82463	.	.	ENSG00000179562	ENST00000321407	T	0.13657	2.57	5.09	5.09	0.68999	.	0.047275	0.85682	D	0.000000	T	0.34454	0.0898	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.01492	-1.1341	10	0.36615	T	0.2	-24.6294	16.3635	0.83296	0.0:1.0:0.0:0.0	.	402	Q96CN9	GCC1_HUMAN	N	402	ENSP00000318821:D402N	ENSP00000318821:D402N	D	-	1	0	GCC1	127010428	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.248000	0.78268	2.525000	0.85131	0.655000	0.94253	GAC		PASS	0.532	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		20	127	20	127	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129125498	129125498	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:129125498G>A	ENST00000249344.2	+	21	2373	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	778					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R778H(2)									AACAGCCGTCGCTATGACAGA	0.498																																						uc011koy.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(2332-2334)CGC>CAC		hypothetical protein LOC57464 isoform a							102.0	92.0	95.0					7																	129125498		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129125498G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2333G>A	7.37:g.129125498G>A	ENSP00000249344:p.Arg778His					FAM40B_uc011koz.1_Missense_Mutation_p.R270H	p.R778H	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			21	2373	+			778					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2333G>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375033	0.95923	.	.	ENSG00000128578	ENST00000249344	T	0.49139	0.79	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63932	-0.6525	10	0.28530	T	0.3	-20.8352	19.2409	0.93883	0.0:0.0:1.0:0.0	.	778	Q9ULQ0	FA40B_HUMAN	H	778	ENSP00000249344:R778H	ENSP00000249344:R778H	R	+	2	0	FAM40B	128912734	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	9.813000	0.99286	2.788000	0.95919	0.557000	0.71058	CGC		PASS	0.498	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		39	72	39	72	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133580390	133580390	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:133580390G>A	ENST00000253861.4	+	12	1802	c.1773G>A	c.(1771-1773)ctG>ctA	p.L591L	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.L201L|EXOC4_ENST00000539845.1_Silent_p.L490L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	591					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.L591L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGACCTCCTGAACCTGATGC	0.448																																						uc003vrk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1771-1773)CTG>CTA		SEC8 protein isoform a							223.0	188.0	200.0					7																	133580390		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133580390G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1773G>A	7.37:g.133580390G>A						EXOC4_uc011kpo.1_Silent_p.L490L|EXOC4_uc003vrl.2_Silent_p.L201L|EXOC4_uc011kpp.1_Silent_p.L123L	p.L591L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			12	1808	+		Esophageal squamous(399;0.129)	591					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.1773G>A	CCDS5829.1																																																																																				PASS	0.448	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	248	10	248	---	---	---	---
WDR91	29062	broad.mit.edu	37	7	134873261	134873261	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:134873261G>C	ENST00000354475.4	-	13	1836	c.1805C>G	c.(1804-1806)gCc>gGc	p.A602G	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Missense_Mutation_p.A567G	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	602								p.A602G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCCGTAGTGGGCCCTCCAGCT	0.582																																						uc003vsp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(1804-1806)GCC>GGC		WD repeat domain 91							157.0	144.0	148.0					7																	134873261		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134873261G>C	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1805C>G	7.37:g.134873261G>C	ENSP00000346466:p.Ala602Gly					WDR91_uc010lmq.2_Missense_Mutation_p.A191G|WDR91_uc010lmr.2_Intron	p.A602G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			13	1867	-			602			WD 5.		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1805C>G	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497864	0.96355	.	.	ENSG00000105875	ENST00000354475;ENST00000423565	T;T	0.01234	5.13;5.13	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.56025	-0.8047	10	0.14656	T	0.56	-31.6167	20.0693	0.97712	0.0:0.0:1.0:0.0	.	602	A4D1P6	WDR91_HUMAN	G	602;567	ENSP00000346466:A602G;ENSP00000392555:A567G	ENSP00000346466:A602G	A	-	2	0	WDR91	134523801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.605000	0.98321	2.758000	0.94735	0.563000	0.77884	GCC		PASS	0.582	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		64	261	64	261	---	---	---	---
FAM180A	389558	broad.mit.edu	37	7	135418972	135418972	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:135418972G>A	ENST00000338588.3	-	3	538	c.273C>T	c.(271-273)acC>acT	p.T91T	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Silent_p.T91T	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	91						extracellular region (GO:0005576)		p.T91T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTTGCAGACGGTGCGGAAGT	0.587																																						uc003vtd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(271-273)ACC>ACT		hypothetical protein LOC389558 precursor							122.0	115.0	117.0					7																	135418972		2203	4300	6503	SO:0001819	synonymous_variant	389558					extracellular region		g.chr7:135418972G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.273C>T	7.37:g.135418972G>A						FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Silent_p.T91T	p.T91T	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN			3	539	-			91					B2RP85	Silent	SNP	ENST00000338588.3	37	c.273C>T	CCDS5841.1																																																																																				PASS	0.587	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		8	314	8	314	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138591781	138591781	+	Missense_Mutation	SNP	G	G	A	rs374288943		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:138591781G>A	ENST00000422774.1	-	6	3392	c.3344C>T	c.(3343-3345)gCg>gTg	p.A1115V	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1115V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1065V			Q9HCM3	K1549_HUMAN	KIAA1549	1115						integral component of membrane (GO:0016021)		p.A1065V(1)|p.A1115V(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTTTTAACCGCAAAGATGAT	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(3343-3345)GCG>GTG		hypothetical protein LOC57670 isoform 1		G	VAL/ALA,VAL/ALA	1,3731		0,1,1865	64.0	61.0	62.0		3344,3344	4.3	0.8	7		62	0,8186		0,0,4093	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	64,64	0,1,5958	AA,AG,GG		0.0,0.0268,0.0084	benign,benign	1115/1951,1115/1935	138591781	1,11917	1866	4093	5959	SO:0001583	missense	57670					integral to membrane		g.chr7:138591781G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3344C>T	7.37:g.138591781G>A	ENSP00000416040:p.Ala1115Val					KIAA1549_uc003vuk.3_Missense_Mutation_p.A1065V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1115V	p.A1115V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			6	3393	-			1115					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3344C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851086	0.51270	2.68E-4	0.0	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26067	1.76;1.77;1.79	5.17	4.28	0.50868	.	0.069825	0.56097	D	0.000031	T	0.36635	0.0974	L	0.38531	1.155	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;P	0.65773	0.938;0.898	T	0.04961	-1.0915	10	0.21014	T	0.42	.	14.5222	0.67859	0.0:0.1605:0.8394:0.0	.	1115;1115	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	V	1115;1065;1115	ENSP00000406661:A1115V;ENSP00000242365:A1065V;ENSP00000416040:A1115V	ENSP00000242365:A1065V	A	-	2	0	KIAA1549	138242321	1.000000	0.71417	0.798000	0.32154	0.031000	0.12232	7.340000	0.79292	1.374000	0.46228	0.655000	0.94253	GCG		PASS	0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			3	37	3	37	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141952369	141952369	+	Missense_Mutation	SNP	C	C	G	rs149180097		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:141952369C>G	ENST00000552471.1	-	4	818	c.499G>C	c.(499-501)Gat>Cat	p.D167H	PRSS58_ENST00000547058.2_Missense_Mutation_p.D167H			Q8IYP2	PRS58_HUMAN	protease, serine, 58	167	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D167H(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTATAGGCATCGCGACACTGA	0.428																																						uc003vxb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GAT>CAT		trypsin X3 precursor		C	HIS/ASP	2,4404	4.2+/-10.8	0,2,2201	165.0	151.0	156.0		499	-8.4	0.0	7	dbSNP_134	156	0,8600		0,0,4300	no	missense	PRSS58	NM_001001317.3	81	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	possibly-damaging	167/242	141952369	2,13004	2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952369C>G		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.499G>C	7.37:g.141952369C>G	ENSP00000446916:p.Asp167His					TRYX3_uc003vxc.3_Missense_Mutation_p.D167H	p.D167H	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			4	819	-	Melanoma(164;0.0272)		167			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.499G>C	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375604	0.42105	4.54E-4	0.0	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88586	-2.4;-2.4	4.22	-8.44	0.00950	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86393	0.5922	N	0.25332	0.735	0.09310	N	1	D	0.57899	0.981	P	0.58820	0.846	D	0.85693	0.1308	9	0.62326	D	0.03	.	12.0916	0.53730	0.1037:0.1387:0.0:0.7576	.	167	Q8IYP2	PRS58_HUMAN	H	167	ENSP00000447588:D167H;ENSP00000446916:D167H	ENSP00000307206:D167H	D	-	1	0	PRSS58	141598847	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.577000	0.02127	-2.549000	0.00480	-1.008000	0.02478	GAT		PASS	0.428	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		29	226	29	226	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141955036	141955036	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:141955036T>A	ENST00000552471.1	-	3	594	c.275A>T	c.(274-276)cAc>cTc	p.H92L	PRSS58_ENST00000547058.2_Missense_Mutation_p.H92L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.H92L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GACTGAGAAGTGTGGATGATG	0.423																																						uc003vxb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CAC>CTC		trypsin X3 precursor							211.0	190.0	197.0					7																	141955036		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955036T>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.275A>T	7.37:g.141955036T>A	ENSP00000446916:p.His92Leu					TRYX3_uc003vxc.3_Missense_Mutation_p.H92L	p.H92L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			3	595	-	Melanoma(164;0.0272)		92			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.275A>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	T	9.969	1.225073	0.22457	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81247	-1.47;-1.47	4.89	-2.02	0.07388	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.55737	0.1939	N	0.03930	-0.32	0.09310	N	1	B	0.20988	0.05	B	0.12837	0.008	T	0.41858	-0.9485	9	0.59425	D	0.04	.	6.25	0.20839	0.1122:0.291:0.0:0.5968	.	92	Q8IYP2	PRS58_HUMAN	L	92	ENSP00000447588:H92L;ENSP00000446916:H92L	ENSP00000307206:H92L	H	-	2	0	PRSS58	141601513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.112000	0.15479	-0.769000	0.04620	-2.125000	0.00346	CAC		PASS	0.423	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		45	162	45	162	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142457345	142457345	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:142457345C>T	ENST00000311737.7	+	1	16	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	PRSS1_ENST00000486171.1_Missense_Mutation_p.L4F	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	4				L -> F (in Ref. 7; AAI28227). {ECO:0000305}.	cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L4F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CATGAATCCACTCCTGATCCT	0.572																																						uc003wak.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(10-12)CTC>TTC		protease, serine, 1 preproprotein							230.0	164.0	186.0					7																	142457345		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142457345C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.10C>T	7.37:g.142457345C>T	ENSP00000308720:p.Leu4Phe					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|PRSS1_uc011ksm.1_Missense_Mutation_p.L4F|PRSS1_uc003wam.2_5'Flank	p.L4F	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		1	27	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	4	L -> F (in Ref. 7; AAI28227).				A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.10C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	3.087	-0.187718	0.06299	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.90004	-2.6;-2.58	3.32	2.29	0.28610	.	0.198136	0.44483	U	0.000446	D	0.84215	0.5423	L	0.38175	1.15	0.24475	N	0.994377	P;B	0.46142	0.873;0.002	P;B	0.49561	0.615;0.008	T	0.74047	-0.3790	10	0.35671	T	0.21	.	5.5967	0.17331	0.0:0.6731:0.2065:0.1204	.	4;4	B4DDX6;P07477	.;TRY1_HUMAN	F	4	ENSP00000417854:L4F;ENSP00000308720:L4F	ENSP00000308720:L4F	L	+	1	0	PRSS1	142136919	0.004000	0.15560	0.768000	0.31515	0.097000	0.18754	0.063000	0.14410	1.793000	0.52555	0.404000	0.27445	CTC		PASS	0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			24	129	24	129	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143096484	143096484	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:143096484C>T	ENST00000275815.3	-	5	944	c.858G>A	c.(856-858)cgG>cgA	p.R286R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	286	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R286R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCATGTCCATCCGGTAGGAGC	0.587																																						uc003wcz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(856-858)CGG>CGA		ephrin receptor EphA1 precursor							41.0	36.0	38.0					7																	143096484		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096484C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.858G>A	7.37:g.143096484C>T							p.R286R	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	945	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	286			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.858G>A	CCDS5884.1																																																																																				PASS	0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			19	56	19	56	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829458	146829458	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:146829458G>T	ENST00000361727.3	+	8	1721	c.1205G>T	c.(1204-1206)aGg>aTg	p.R402M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	402	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R402M(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCAGTTTAGGACATGGAAC	0.498										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1204-1206)AGG>ATG		cell recognition molecule Caspr2 precursor							136.0	122.0	127.0					7																	146829458		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829458G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1205G>T	7.37:g.146829458G>T	ENSP00000354778:p.Arg402Met	HNSCC(39;0.1)					p.R402M	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1721	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	402			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1205G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853723	0.91355	.	.	ENSG00000174469	ENST00000361727	D	0.84442	-1.85	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.56097	D	0.000021	D	0.93996	0.8077	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94710	0.7891	10	0.87932	D	0	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	402	Q9UHC6	CNTP2_HUMAN	M	402	ENSP00000354778:R402M	ENSP00000354778:R402M	R	+	2	0	CNTNAP2	146460391	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	9.321000	0.96353	2.686000	0.91538	0.591000	0.81541	AGG		PASS	0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			40	139	40	139	---	---	---	---
WDR86	349136	broad.mit.edu	37	7	151093209	151093210	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:151093209_151093210CC>AA	ENST00000334493.6	-	3	808_809	c.378_379GG>TT	c.(376-381)aaGGgg>aaTTgg	p.126_127KG>NW	WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000469830.2_Missense_Mutation_p.126_127KG>NW|WDR86_ENST00000477459.1_5'UTR	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	126								p.K126N(2)|p.G127W(2)|p.K126_G127>NW(2)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACATCTGCCCCTTGTCCACAC	0.658																																						uc003wkb.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)		0						c.(379-381)GGG>TGG|c.(376-378)AAG>AAT		WD repeat domain 86																																				SO:0001583	missense	349136							g.chr7:151093209C>A|g.chr7:151093210C>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.378_379delinsAA	7.37:g.151093209_151093210delinsAA	ENSP00000335522:p.K126_G127delinsNW					WDR86_uc003wka.2_Missense_Mutation_p.G85W|WDR86_uc011kvk.1_Missense_Mutation_p.G127W|WDR86_uc003wkc.2_5'UTR|WDR86_uc003wka.2_Missense_Mutation_p.K84N|WDR86_uc011kvk.1_Missense_Mutation_p.K126N|WDR86_uc003wkc.2_Translation_Start_Site	p.G127W|p.K126N	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	828|827	-			127|126			WD 3.		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.379G>T|c.378G>T	CCDS5925.2																																																																																				PASS	0.658	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		19	50	19	50	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151880070	151880070	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:151880070T>A	ENST00000262189.6	-	35	5472	c.5254A>T	c.(5254-5256)Aaa>Taa	p.K1752*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K1752*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1752	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K1752*(2)									TGTCTAAATTTCCATTCCTGT	0.343																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5254-5256)AAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 3							136.0	135.0	135.0					7																	151880070		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151880070T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5254A>T	7.37:g.151880070T>A	ENSP00000262189:p.Lys1752*					MLL3_uc003wkz.2_Nonsense_Mutation_p.K813*	p.K1752*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	5473	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1752			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5254A>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	48	14.035812	0.99776	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.7	4.7	0.59300	.	0.000000	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8762	0.70496	0.0:0.0:0.0:1.0	.	.	.	.	X	1752	.	ENSP00000262189:K1752X	K	-	1	0	MLL3	151511003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.408000	0.80041	2.063000	0.61619	0.460000	0.39030	AAA		PASS	0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			118	64	118	64	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158464254	158464254	+	Silent	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:158464254T>G	ENST00000409423.1	-	14	1603	c.1431A>C	c.(1429-1431)gtA>gtC	p.V477V	NCAPG2_ENST00000275830.10_Silent_p.V269V|NCAPG2_ENST00000356309.3_Silent_p.V477V|NCAPG2_ENST00000449727.2_Silent_p.V477V|NCAPG2_ENST00000409339.3_Silent_p.V477V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	477					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V477V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCACAAAAGCTACCCTCACTT	0.448																																						uc003wnv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(1429-1431)GTA>GTC		leucine zipper protein 5							176.0	176.0	176.0					7																	158464254		1958	4133	6091	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158464254T>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1431A>C	7.37:g.158464254T>G						NCAPG2_uc010lqu.1_Silent_p.V269V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.V477V|NCAPG2_uc011kwe.1_Silent_p.V477V	p.V477V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	13	1576	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	477			HEAT.		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.1431A>C	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	4.108	0.018097	0.07959	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.77	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.2069	11.795	0.52093	0.0:0.8059:0.0:0.1941	.	.	.	.	S	279	.	.	X	-	2	0	NCAPG2	158157015	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	1.001000	0.29783	0.793000	0.33875	-0.252000	0.11476	TAG		PASS	0.448	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		48	163	48	163	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158672642	158672642	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:158672642A>G	ENST00000407559.3	+	5	999	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	281					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K281E(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAGAAAAGAGAAATCGGCAAA	0.488																																						uc003woe.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(841-843)AAA>GAA		WD repeat domain 60							69.0	73.0	72.0					7																	158672642		1886	4094	5980	SO:0001583	missense	55112							g.chr7:158672642A>G		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.841A>G	7.37:g.158672642A>G	ENSP00000384290:p.Lys281Glu					WDR60_uc010lqv.2_RNA	p.K281E	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	999	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	281					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.841A>G	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560761	0.27827	.	.	ENSG00000126870	ENST00000407559	T	0.25579	1.79	4.64	4.64	0.57946	.	0.519476	0.19702	N	0.108009	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.20874	-1.0262	10	0.24483	T	0.36	-8.1242	10.7545	0.46228	1.0:0.0:0.0:0.0	.	281	Q8WVS4	WDR60_HUMAN	E	281	ENSP00000384290:K281E	ENSP00000384290:K281E	K	+	1	0	WDR60	158365403	0.425000	0.25498	0.161000	0.22692	0.006000	0.05464	1.526000	0.35964	1.859000	0.53934	0.533000	0.62120	AAA		PASS	0.488	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		29	57	29	57	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3000184	3000184	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:3000184T>A	ENST00000520002.1	-	42	6602	c.6047A>T	c.(6046-6048)cAg>cTg	p.Q2016L	CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2016L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2015L|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q2015L|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2016L|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2016L|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2015L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2016	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Q1744L(1)|p.Q2015L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCAGAAACTGAATATGTGC	0.368																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6046-6048)CAG>CTG		CUB and Sushi multiple domains 1 precursor							113.0	115.0	114.0					8																	3000184		1852	4084	5936	SO:0001583	missense	64478					integral to membrane		g.chr8:3000184T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6047A>T	8.37:g.3000184T>A	ENSP00000430733:p.Gln2016Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.Q1408L|CSMD1_uc010lrg.2_Missense_Mutation_p.Q84L	p.Q2016L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	41	6437	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2016			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6047A>T		.	.	.	.	.	.	.	.	.	.	T	16.74	3.205496	0.58234	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.24	4.08	0.47627	CUB (5);	0.000000	0.64402	D	0.000001	T	0.44201	0.1282	M	0.77406	2.37	0.49915	D	0.999831	D;D;D	0.67145	0.986;0.996;0.995	D;D;D	0.69307	0.963;0.952;0.946	T	0.39722	-0.9600	10	0.59425	D	0.04	.	11.1525	0.48466	0.0:0.0724:0.0:0.9276	.	2016;2016;2015	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2016;2016;1877;2015;2015;2015	ENSP00000383047:Q2016L;ENSP00000430733:Q2016L;ENSP00000441462:Q2015L;ENSP00000446243:Q2015L;ENSP00000441675:Q2015L	ENSP00000320445:Q1877L	Q	-	2	0	CSMD1	2987591	1.000000	0.71417	0.276000	0.24689	0.598000	0.36846	4.866000	0.63005	0.939000	0.37446	0.482000	0.46254	CAG		PASS	0.368	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		66	55	66	55	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8239031	8239031	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:8239031C>T	ENST00000520004.1	-	2	491	c.227G>A	c.(226-228)aGc>aAc	p.S76N	SGK223_ENST00000330777.4_Missense_Mutation_p.S76N			Q86YV5	SG223_HUMAN		76							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S76N(2)									GTAAGGTGAGCTGTTCACACC	0.647																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(226-228)AGC>AAC		pragmin							82.0	82.0	82.0					8																	8239031		2051	4206	6257	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8239031C>T																												ENST00000520004.1:c.227G>A	8.37:g.8239031C>T	ENSP00000428054:p.Ser76Asn						p.S76N	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	227	-			76					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.227G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	c	13.74	2.326707	0.41197	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58506	0.33;0.33	4.49	2.56	0.30785	.	0.806480	0.11074	N	0.602541	T	0.36552	0.0971	N	0.08118	0	0.09310	N	0.999998	B	0.28820	0.224	B	0.23716	0.048	T	0.18967	-1.0320	10	0.34782	T	0.22	.	12.8916	0.58073	0.0:0.4805:0.5195:0.0	.	76	Q86YV5	SG223_HUMAN	N	76	ENSP00000330930:S76N;ENSP00000428054:S76N	ENSP00000330930:S76N	S	-	2	0	AC068353.1	8276441	0.938000	0.31826	0.638000	0.29380	0.961000	0.63080	3.103000	0.50298	1.275000	0.44379	-0.222000	0.12452	AGC		PASS	0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			26	45	26	45	---	---	---	---
SLC35G5	83650	broad.mit.edu	37	8	11189354	11189354	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:11189354C>T	ENST00000382435.4	+	1	958	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	247						integral component of membrane (GO:0016021)		p.P247S(1)									CCCCGTGTTGCCCAGTGACCT	0.627																																						uc003wtp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)CCC>TCC		acyl-malonyl condensing enzyme							63.0	74.0	70.0					8																	11189354		2203	4298	6501	SO:0001583	missense	83650					integral to membrane		g.chr8:11189354C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.739C>T	8.37:g.11189354C>T	ENSP00000371872:p.Pro247Ser						p.P247S	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	860	+			247					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.739C>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163342	0.38217	.	.	ENSG00000177710	ENST00000382435	T	0.48201	0.82	.	.	.	.	0.000000	0.44285	D	0.000467	T	0.59115	0.2170	M	0.65498	2.005	0.41219	D	0.986492	D	0.89917	1.0	D	0.91635	0.999	T	0.56426	-0.7981	9	0.62326	D	0.03	-9.9755	5.8679	0.18786	0.0:0.9992:0.0:8.0E-4	.	247	Q96KT7	S35G5_HUMAN	S	247	ENSP00000371872:P247S	ENSP00000371872:P247S	P	+	1	0	SLC35G5	11226764	0.991000	0.36638	0.167000	0.22817	0.169000	0.22640	2.871000	0.48459	0.088000	0.17205	0.089000	0.15464	CCC		PASS	0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		60	62	60	62	---	---	---	---
TNFRSF10A	8797	broad.mit.edu	37	8	23049437	23049437	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:23049437C>T	ENST00000221132.3	-	10	1241	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	393	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.E393K(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACATCGATCTCATTTTTCGTG	0.522																																						uc003xda.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(1)	6						c.(1177-1179)GAG>AAG		tumor necrosis factor receptor superfamily,							140.0	116.0	124.0					8																	23049437		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23049437C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1177G>A	8.37:g.23049437C>T	ENSP00000221132:p.Glu393Lys						p.E393K	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1242	-		Prostate(55;0.0421)|Breast(100;0.14)	393			Cytoplasmic (Potential).|Death.		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.1177G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954900	0.53293	.	.	ENSG00000104689	ENST00000221132	T	0.46063	0.88	3.43	2.51	0.30379	Death (3);DEATH-like (2);	0.786081	0.11102	U	0.599520	T	0.61324	0.2338	M	0.79475	2.455	0.19945	N	0.999946	D	0.76494	0.999	D	0.69654	0.965	T	0.46456	-0.9190	10	0.72032	D	0.01	.	8.1172	0.30950	0.0:0.7343:0.2657:0.0	.	393	O00220	TR10A_HUMAN	K	393	ENSP00000221132:E393K	ENSP00000221132:E393K	E	-	1	0	TNFRSF10A	23105382	0.675000	0.27558	0.036000	0.18154	0.002000	0.02628	0.714000	0.25808	0.567000	0.29293	0.462000	0.41574	GAG		PASS	0.522	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		51	25	51	25	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36703341	36703341	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:36703341C>T	ENST00000399881.3	+	18	1852	c.1815C>T	c.(1813-1815)gtC>gtT	p.V605V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	605					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V605V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTGTTCAGTCTGTCATGATG	0.438																																						uc010lvw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1813-1815)GTC>GTT		potassium channel, subfamily U, member 1							136.0	116.0	122.0					8																	36703341		1893	4128	6021	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36703341C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1815C>T	8.37:g.36703341C>T						KCNU1_uc003xjw.2_RNA	p.V605V	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	18	1902	+			605			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.1815C>T	CCDS55220.1																																																																																				PASS	0.438	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		7	16	7	16	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37702059	37702059	+	IGR	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:37702059C>A	ENST00000412232.2	+	0	5651				GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Missense_Mutation_p.Q403H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q403H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTGGGCTCTCTGAAAGTCCC	0.507																																						uc003xkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CAG>CAT		RNA polymerase III transcription initiation							66.0	73.0	71.0					8																	37702059		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702059C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702059C>A							p.Q403H	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1319	-		Lung NSC(58;0.118)|all_lung(54;0.195)	403					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1209G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181277	0.38511	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.28	2.05	0.26809	.	0.362387	0.29861	N	0.011008	T	0.44808	0.1311	L	0.53249	1.67	0.54753	D	0.999988	P	0.43169	0.8	B	0.37833	0.259	T	0.45249	-0.9274	9	0.48119	T	0.1	-0.8976	11.9006	0.52682	0.0:0.7772:0.0:0.2228	.	403	Q9HAW0	BRF2_HUMAN	H	403;380	.	ENSP00000220659:Q403H	Q	-	3	2	BRF2	37821217	0.946000	0.32159	0.998000	0.56505	0.981000	0.71138	0.707000	0.25704	0.610000	0.30035	0.561000	0.74099	CAG		PASS	0.507	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	157	4	157	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38173512	38173512	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:38173512C>T	ENST00000317025.8	-	10	2421	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R635H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTTGAGGCGCGACTCCTTTT	0.403			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(1)	1						c.(1903-1905)CGC>CAC		WHSC1L1 protein isoform long							134.0	128.0	130.0					8																	38173512		2058	4209	6267	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38173512C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1904G>A	8.37:g.38173512C>T	ENSP00000313983:p.Arg635His					WHSC1L1_uc011lbm.1_Missense_Mutation_p.R635H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R635H	p.R635H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		10	2422	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	635					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1904G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031760	0.93575	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95103	-3.61;-3.61;-3.61	5.85	5.85	0.93711	.	0.184982	0.25795	U	0.028259	D	0.97037	0.9032	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.96947	0.9692	10	0.66056	D	0.02	.	20.1632	0.98142	0.0:1.0:0.0:0.0	.	635;635;635	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	635;635;572;635	ENSP00000393284:R635H;ENSP00000313983:R635H;ENSP00000434730:R635H	ENSP00000313983:R635H	R	-	2	0	WHSC1L1	38292669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.772000	0.95346	0.650000	0.86243	CGC		PASS	0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		61	162	61	162	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39646253	39646253	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:39646253G>A	ENST00000265708.4	-	8	680	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	ADAM2_ENST00000521880.1_Missense_Mutation_p.H193Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.H174Y|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	193	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H193Y(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACCCCATATGATTATACTGt	0.274																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(577-579)CAT>TAT		ADAM metallopeptidase domain 2 proprotein							59.0	57.0	57.0					8																	39646253		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39646253G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.577C>T	8.37:g.39646253G>A	ENSP00000265708:p.His193Tyr					ADAM2_uc003xnk.2_Missense_Mutation_p.H174Y|ADAM2_uc011lck.1_Missense_Mutation_p.H193Y|ADAM2_uc003xnl.2_Intron	p.H193Y	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	8	652	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	193			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.577C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.550213	0.00926	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.62941	-0.01;-0.01;-0.01	4.7	1.84	0.25277	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.37598	0.1009	N	0.11870	0.19	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.003;0.005	T	0.19484	-1.0304	8	.	.	.	.	5.2045	0.15283	0.3875:0.0:0.6125:0.0	.	193;174;193	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	Y	174;193;193	ENSP00000343854:H174Y;ENSP00000265708:H193Y;ENSP00000429352:H193Y	.	H	-	1	0	ADAM2	39765410	0.002000	0.14202	0.004000	0.12327	0.103000	0.19146	0.778000	0.26732	0.724000	0.32296	0.650000	0.86243	CAT		PASS	0.274	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		8	106	8	106	---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48885504	48885504	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:48885504G>C	ENST00000262105.2	+	13	2225	c.2016G>C	c.(2014-2016)caG>caC	p.Q672H	MCM4_ENST00000523944.1_Missense_Mutation_p.Q672H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	672					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.Q672H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTACTACCAGAGCGAGGAGC	0.552																																						uc003xqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2014-2016)CAG>CAC		minichromosome maintenance complex component 4							90.0	79.0	83.0					8																	48885504		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48885504G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2016G>C	8.37:g.48885504G>C	ENSP00000262105:p.Gln672His					MCM4_uc003xql.1_Missense_Mutation_p.Q672H|MCM4_uc011ldi.1_Missense_Mutation_p.Q659H	p.Q672H	NM_182746	NP_877423	P33991	MCM4_HUMAN			14	2111	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	672					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2016G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086341	0.55861	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.06449	3.3;3.3	5.62	3.82	0.43975	.	0.049848	0.85682	D	0.000000	T	0.07638	0.0192	N	0.17800	0.525	0.80722	D	1	B;B	0.33904	0.431;0.431	P;P	0.45660	0.489;0.489	T	0.34950	-0.9808	10	0.72032	D	0.01	-10.9449	8.0382	0.30506	0.3118:0.0:0.6882:0.0	.	672;672	B3KMX0;P33991	.;MCM4_HUMAN	H	672;672;659;632	ENSP00000430194:Q672H;ENSP00000262105:Q672H	ENSP00000262105:Q672H	Q	+	3	2	MCM4	49048057	1.000000	0.71417	0.977000	0.42913	0.882000	0.50991	2.454000	0.44979	0.717000	0.32145	0.563000	0.77884	CAG		PASS	0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		13	80	13	80	---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54669176	54669176	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:54669176C>G	ENST00000359530.2	-	12	1479	c.1216G>C	c.(1216-1218)Gtc>Ctc	p.V406L	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.V388L|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.V406L|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.V366L|ATP6V1H_ENST00000523899.1_Intron	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	406					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.V388L(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACAGCTAAGACTTGGGGATCA	0.373																																						uc003xrl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)GTC>CTC		ATPase, H+ transporting, lysosomal 50/57kDa, V1							108.0	97.0	101.0					8																	54669176		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54669176C>G	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1216G>C	8.37:g.54669176C>G	ENSP00000352522:p.Val406Leu					ATP6V1H_uc003xrk.2_Missense_Mutation_p.V366L|ATP6V1H_uc003xrm.2_Missense_Mutation_p.V406L|ATP6V1H_uc003xrn.2_Missense_Mutation_p.V388L|ATP6V1H_uc011ldv.1_Missense_Mutation_p.V326L|ATP6V1H_uc010lyd.2_Missense_Mutation_p.V342L	p.V406L	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		12	1368	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	406					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.1216G>C	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461065	0.84317	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.63	5.63	0.86233	ATPase, V1 complex, subunit H, C-terminal (2);Armadillo-type fold (1);	0.107337	0.64402	D	0.000007	T	0.77758	0.4178	M	0.85777	2.775	0.80722	D	1	B;B	0.31227	0.268;0.314	B;B	0.41666	0.248;0.363	T	0.77245	-0.2659	9	0.46703	T	0.11	-20.1211	18.4556	0.90720	0.0:1.0:0.0:0.0	.	388;406	Q9UI12-2;Q9UI12	.;VATH_HUMAN	L	388;366;406;406	.	ENSP00000347359:V388L	V	-	1	0	ATP6V1H	54831729	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	7.137000	0.77295	2.651000	0.90000	0.650000	0.86243	GTC		PASS	0.373	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		46	55	46	55	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59510037	59510037	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:59510037T>C	ENST00000038176.3	-	21	1913	c.1701A>G	c.(1699-1701)ctA>ctG	p.L567L	NSMAF_ENST00000427130.2_Silent_p.L598L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	567	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.L567L(1)|p.L598L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GTGTCACAAATAGTTGTTTTG	0.428																																						uc003xtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1699-1701)CTA>CTG		neutral sphingomyelinase (N-SMase) activation							194.0	173.0	180.0					8																	59510037		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59510037T>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1701A>G	8.37:g.59510037T>C						NSMAF_uc011lee.1_Silent_p.L598L	p.L567L	NM_003580	NP_003571	Q92636	FAN_HUMAN			21	1915	-		all_lung(136;0.174)|Lung NSC(129;0.2)	567			BEACH.		B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.1701A>G	CCDS6173.1																																																																																				PASS	0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		173	158	173	158	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69030878	69030878	+	Splice_Site	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:69030878A>T	ENST00000288368.4	+	27	3697	c.3420A>T	c.(3418-3420)tcA>tcT	p.S1140S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1140					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S1140S(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAATGGACTCAGGTGTGTTCG	0.413																																						uc003xxv.1																			1	Substitution - coding silent(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3418-3420)TCA>TCT		DEP domain containing 2 isoform a							138.0	123.0	128.0					8																	69030878		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030878A>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3421+1A>T	8.37:g.69030878A>T							p.S1140S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			27	3447	+			1140					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3420A>T	CCDS6201.1																																																																																				PASS	0.413	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Silent	15	116	15	116	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71071771	71071771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:71071771G>A	ENST00000452400.2	-	10	1274	c.1093C>T	c.(1093-1095)Caa>Taa	p.Q365*	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	365					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q365*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATTACAAGTTGAGGTTCATTA	0.373			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Nonsense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1093-1095)CAA>TAA		nuclear receptor coactivator 2							202.0	202.0	202.0					8																	71071771		1882	4099	5981	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71071771G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1093C>T	8.37:g.71071771G>A	ENSP00000399968:p.Gln365*						p.Q365*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		10	1255	-	Breast(64;0.201)		365					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.1093C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	41	8.645596	0.98899	.	.	ENSG00000140396	ENST00000452400	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	365	.	ENSP00000399968:Q365X	Q	-	1	0	NCOA2	71234325	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAA		PASS	0.373	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			8	439	8	439	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72970052	72970052	+	Splice_Site	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:72970052C>A	ENST00000262209.4	-	9	1201		c.e9-1			NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						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.?(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)	TATCTGCTCCCTAAAAATCAA	0.318																																						uc003xza.2																			1	Unknown(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.e9-1		ankyrin-like protein 1	Menthol(DB00825)						67.0	65.0	66.0					8																	72970052		2203	4300	6503	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72970052C>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.994-1G>T	8.37:g.72970052C>A							p.G332_splice	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		9	1169	-								A6NIN6	Splice_Site	SNP	ENST00000262209.4	37	c.994_splice	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257840	0.39896	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4942	0.95065	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPA1	73132606	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	6.294000	0.72738	2.602000	0.87976	0.655000	0.94253	.		PASS	0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Intron	42	85	42	85	---	---	---	---
SBSPON	157869	broad.mit.edu	37	8	73993433	73993433	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:73993433A>T	ENST00000297354.6	-	2	434	c.230T>A	c.(229-231)gTg>gAg	p.V77E	SBSPON_ENST00000519697.1_5'UTR|RP11-956J14.1_ENST00000442274.1_RNA	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	77	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.V72E(1)									CCATTCCCCCACGAAGCACGG	0.617																																						uc003xzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GTG>GAG		RPE-spondin precursor							48.0	52.0	51.0					8																	73993433		2017	4174	6191	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993433A>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.230T>A	8.37:g.73993433A>T	ENSP00000297354:p.Val77Glu						p.V77E	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			2	435	-			77			TSP type-1.		A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.230T>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714134	0.89112	.	.	ENSG00000164764	ENST00000297354	T	0.19532	2.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74934	-0.3495	10	0.87932	D	0	-10.968	15.1998	0.73126	1.0:0.0:0.0:0.0	.	77	Q8IVN8	RPESP_HUMAN	E	77	ENSP00000297354:V77E	ENSP00000297354:V77E	V	-	2	0	C8orf84	74155987	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.535000	0.67173	1.995000	0.58328	0.482000	0.46254	GTG		PASS	0.617	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		55	133	55	133	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75227697	75227697	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:75227697C>A	ENST00000342232.4	-	2	578	c.538G>T	c.(538-540)Gca>Tca	p.A180S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	180					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A180S(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCGGCTGCGGCGTCGTGG	0.706																																						uc003yae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)GCA>TCA		junctophilin 1							9.0	12.0	11.0					8																	75227697		2051	4004	6055	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227697C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.538G>T	8.37:g.75227697C>A	ENSP00000344488:p.Ala180Ser					JPH1_uc003yaf.2_Missense_Mutation_p.A180S|JPH1_uc003yag.1_Missense_Mutation_p.A44S	p.A180S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	578	-	Breast(64;0.00576)		180			Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.538G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918892	0.33908	.	.	ENSG00000104369	ENST00000342232	T	0.56941	0.43	4.67	3.71	0.42584	.	0.478642	0.22853	N	0.054840	T	0.28499	0.0705	N	0.12961	0.28	0.27096	N	0.962736	B	0.17852	0.024	B	0.12156	0.007	T	0.11817	-1.0572	10	0.11794	T	0.64	.	6.9039	0.24299	0.0:0.8075:0.0:0.1925	.	180	Q9HDC5	JPH1_HUMAN	S	180	ENSP00000344488:A180S	ENSP00000344488:A180S	A	-	1	0	JPH1	75390252	0.934000	0.31675	0.962000	0.40283	0.327000	0.28475	1.182000	0.32029	2.401000	0.81631	0.655000	0.94253	GCA		PASS	0.706	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			39	32	39	32	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616803	77616803	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:77616803C>A	ENST00000521891.2	+	2	928	c.480C>A	c.(478-480)ctC>ctA	p.L160L	ZFHX4_ENST00000518282.1_Silent_p.L160L|ZFHX4_ENST00000455469.2_Silent_p.L160L|ZFHX4_ENST00000050961.6_Silent_p.L160L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L160L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAGCAAACTCTTTTCTACAG	0.478										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(478-480)CTC>CTA		zinc finger homeodomain 4							65.0	66.0	66.0					8																	77616803		1943	4143	6086	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616803C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.480C>A	8.37:g.77616803C>A		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.L160L|ZFHX4_uc003yau.1_Silent_p.L160L|ZFHX4_uc003yaw.1_Silent_p.L160L	p.L160L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	867	+			160					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.480C>A	CCDS47878.2																																																																																				PASS	0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	33	8	33	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768487	77768487	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:77768487C>A	ENST00000521891.2	+	10	9778	c.9330C>A	c.(9328-9330)ccC>ccA	p.P3110P	ZFHX4_ENST00000518282.1_Silent_p.P3084P|ZFHX4_ENST00000455469.2_Silent_p.P3065P|ZFHX4_ENST00000050961.6_Silent_p.P3065P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3065	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3094P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTTCTCCCCGGAATGAACG	0.527										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9193-9195)CCC>CCA		zinc finger homeodomain 4							43.0	44.0	43.0					8																	77768487		1944	4145	6089	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768487C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9330C>A	8.37:g.77768487C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P3110P|ZFHX4_uc003yaw.1_Silent_p.P3065P	p.P3065P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9582	+			3065			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9195C>A	CCDS47878.2																																																																																				PASS	0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	56	12	56	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775711	77775711	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:77775711C>A	ENST00000521891.2	+	11	10209	c.9761C>A	c.(9760-9762)cCa>cAa	p.P3254Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3228Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3209Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3205Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3238Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTGGTGACCCAGCTTCCTTT	0.458										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9625-9627)CCA>CAA		zinc finger homeodomain 4							163.0	155.0	158.0					8																	77775711		1901	4121	6022	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775711C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9761C>A	8.37:g.77775711C>A	ENSP00000430497:p.Pro3254Gln	HNSCC(33;0.089)					p.P3209Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10013	+			3205					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9626C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430365	0.43122	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56776	0.44;0.5;0.49;0.48	4.55	4.55	0.56014	.	0.000000	0.42172	U	0.000754	T	0.69459	0.3113	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70498	-0.4855	10	0.49607	T	0.09	.	17.8708	0.88810	0.0:1.0:0.0:0.0	.	3209	Q86UP3-4	.	Q	3254;3238;3209;3205;3228	ENSP00000430497:P3254Q;ENSP00000399605:P3209Q;ENSP00000050961:P3205Q;ENSP00000430848:P3228Q	ENSP00000050961:P3205Q	P	+	2	0	ZFHX4	77938266	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.563000	0.82314	2.525000	0.85131	0.561000	0.74099	CCA		PASS	0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		103	103	103	103	---	---	---	---
CA3	761	broad.mit.edu	37	8	86354385	86354385	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:86354385G>C	ENST00000285381.2	+	3	399	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	106					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.E106Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TCATGGCTCTGAGCACACCGT	0.493																																						uc003ydj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GAG>CAG		carbonic anhydrase III							116.0	110.0	112.0					8																	86354385		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86354385G>C	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.316G>C	8.37:g.86354385G>C	ENSP00000285381:p.Glu106Gln					CA3_uc011lfv.1_Intron	p.E106Q	NM_005181	NP_005172	P07451	CAH3_HUMAN			3	399	+			106					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.316G>C	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585870	0.96578	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.68331	-0.32	6.08	6.08	0.98989	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93683	0.7000	9	.	.	.	-40.1144	19.6516	0.95815	0.0:0.0:1.0:0.0	.	106	P07451	CAH3_HUMAN	Q	106;90	ENSP00000285381:E106Q	.	E	+	1	0	CA3	86541637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.177000	0.94849	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.493	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		20	118	20	118	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89180131	89180131	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:89180131C>G	ENST00000286614.6	-	4	757	c.476G>C	c.(475-477)tGg>tCg	p.W159S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	159					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W159S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TACATTCTGCCACACATCAAA	0.378																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(475-477)TGG>TCG		matrix metalloproteinase 16 isoform 1							109.0	99.0	102.0					8																	89180131		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180131C>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.476G>C	8.37:g.89180131C>G	ENSP00000286614:p.Trp159Ser					MMP16_uc003yec.2_Missense_Mutation_p.W159S	p.W159S	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	758	-			159			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.476G>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124699	0.94429	.	.	ENSG00000156103	ENST00000286614	T	0.70869	-0.52	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94621	0.7813	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	159;159	P51512-2;P51512	.;MMP16_HUMAN	S	159	ENSP00000286614:W159S	ENSP00000286614:W159S	W	-	2	0	MMP16	89249247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	TGG		PASS	0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		13	69	13	69	---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92092907	92092907	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:92092907G>T	ENST00000285420.4	+	5	828	c.729G>T	c.(727-729)caG>caT	p.Q243H	OTUD6B_ENST00000404789.3_Missense_Mutation_p.Q112H	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	213	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)	p.Q243H(1)|p.Q213H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAGAATTTCAGAAGTACTGTG	0.338																																						uc003yeu.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(727-729)CAG>CAT		OTU domain containing 6B							119.0	124.0	122.0					8																	92092907		2201	4299	6500	SO:0001583	missense	51633							g.chr8:92092907G>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.729G>T	8.37:g.92092907G>T	ENSP00000285420:p.Gln243His					OTUD6B_uc011lgh.1_Missense_Mutation_p.Q112H	p.Q243H	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		5	828	+			213			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.729G>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	6.541	0.468065	0.12461	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.42900	0.96;0.96	5.84	2.08	0.27032	Ovarian tumour, otubain (2);	0.476704	0.24345	N	0.039329	T	0.29652	0.0740	N	0.25890	0.77	0.29767	N	0.835118	B;B	0.16603	0.018;0.004	B;B	0.25759	0.063;0.003	T	0.21655	-1.0239	10	0.54805	T	0.06	-9.0169	9.4834	0.38915	0.6283:0.0:0.3717:0.0	.	112;213	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	H	243;112	ENSP00000285420:Q243H;ENSP00000384190:Q112H	ENSP00000285420:Q243H	Q	+	3	2	OTUD6B	92162083	1.000000	0.71417	0.998000	0.56505	0.051000	0.14879	1.188000	0.32102	0.109000	0.17891	-0.469000	0.05056	CAG		PASS	0.338	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		6	23	6	23	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105456623	105456623	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:105456623C>A	ENST00000351513.2	-	4	778	c.646G>T	c.(646-648)Ggc>Tgc	p.G216C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	216					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.G216C(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)			AGCTCGTGGCCCTCAGGGCCT	0.527																																						uc003yly.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(646-648)GGC>TGC		dihydropyrimidinase							62.0	59.0	60.0					8																	105456623		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456623C>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.646G>T	8.37:g.105456623C>A	ENSP00000276651:p.Gly216Cys						p.G216C	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	775	-			216						Missense_Mutation	SNP	ENST00000351513.2	37	c.646G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241931	0.95272	.	.	ENSG00000147647	ENST00000351513	D	0.89875	-2.58	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96125	0.9088	10	0.87932	D	0	-27.9434	19.7714	0.96367	0.0:1.0:0.0:0.0	.	216	Q14117	DPYS_HUMAN	C	216	ENSP00000276651:G216C	ENSP00000276651:G216C	G	-	1	0	DPYS	105525799	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.337000	0.79256	2.666000	0.90696	0.655000	0.94253	GGC		PASS	0.527	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		37	62	37	62	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815657	106815657	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:106815657C>A	ENST00000407775.2	+	8	3597	c.3347C>A	c.(3346-3348)aCc>aAc	p.T1116N	ZFPM2_ENST00000520492.1_Missense_Mutation_p.T984N|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T847N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T984N|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1116					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T1116N(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGGCTCCAACCAGTGGGAAA	0.433																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(3346-3348)ACC>AAC		zinc finger protein, multitype 2							45.0	44.0	44.0					8																	106815657		1879	4116	5995	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815657C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3347C>A	8.37:g.106815657C>A	ENSP00000384179:p.Thr1116Asn					ZFPM2_uc011lhs.1_Missense_Mutation_p.T847N	p.T1116N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3370	+			1116					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3347C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	3.702	-0.061355	0.07317	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.18338	2.22;2.7;2.7;3.91	5.81	2.92	0.33932	.	0.452572	0.24664	N	0.036614	T	0.07863	0.0197	N	0.03608	-0.345	0.23975	N	0.996299	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	10	0.24483	T	0.36	.	13.2553	0.60074	0.1162:0.4141:0.4698:0.0	.	1116	Q8WW38	FOG2_HUMAN	N	1116;984;984;847	ENSP00000384179:T1116N;ENSP00000430757:T984N;ENSP00000428720:T984N;ENSP00000367733:T847N	ENSP00000367733:T847N	T	+	2	0	ZFPM2	106884833	1.000000	0.71417	0.779000	0.31741	0.974000	0.67602	2.393000	0.44442	0.323000	0.23307	-0.182000	0.12963	ACC		PASS	0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	33	9	33	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457611	110457611	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:110457611C>A	ENST00000378402.5	+	38	5617	c.5513C>A	c.(5512-5514)cCa>cAa	p.P1838Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1838	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1840Q(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCTATCACCAACTTCTGGA	0.493										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5512-5514)CCA>CAA		fibrocystin L precursor							74.0	75.0	75.0					8																	110457611		1951	4135	6086	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457611C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5513C>A	8.37:g.110457611C>A	ENSP00000367655:p.Pro1838Gln	HNSCC(38;0.096)					p.P1838Q	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5617	+			1838			Extracellular (Potential).|IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5513C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272887	0.80580	.	.	ENSG00000205038	ENST00000378402	D	0.94280	-3.39	6.03	6.03	0.97812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.97587	4.035	0.46701	D	0.999165	D	0.89917	1.0	D	0.97110	1.0	D	0.97965	1.0340	10	0.41790	T	0.15	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	1838	Q86WI1	PKHL1_HUMAN	Q	1838	ENSP00000367655:P1838Q	ENSP00000367655:P1838Q	P	+	2	0	PKHD1L1	110526787	0.996000	0.38824	0.674000	0.29902	0.706000	0.40770	6.085000	0.71343	2.861000	0.98227	0.655000	0.94253	CCA		PASS	0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		12	39	12	39	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113363403	113363403	+	Splice_Site	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:113363403C>A	ENST00000297405.5	-	40	6570		c.e40+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(4)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTAACTTACCTAAACAAAT	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Unknown(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.e40+1		CUB and Sushi multiple domains 3 isoform 1							104.0	106.0	106.0					8																	113363403		2203	4290	6493	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113363403C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6325+1G>T	8.37:g.113363403C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Splice_Site_p.A1311_splice|CSMD3_uc003ynt.2_Splice_Site_p.A2069_splice|CSMD3_uc011lhx.1_Splice_Site_p.A2005_splice	p.A2109_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			40	6484	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.6325_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930583	0.73327	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2172	0.65800	0.1496:0.8504:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113432579	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.932000	0.70121	2.457000	0.83068	0.650000	0.86243	.		PASS	0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	21	102	21	102	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113519002	113519003	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:113519002_113519003GG>CT	ENST00000297405.5	-	29	5056_5057	c.4812_4813CC>AG	c.(4810-4815)ttCCct>ttAGct	p.1604_1605FP>LA	CSMD3_ENST00000352409.3_Missense_Mutation_p.1604_1605FP>LA|CSMD3_ENST00000343508.3_Missense_Mutation_p.1564_1565FP>LA|CSMD3_ENST00000455883.2_Missense_Mutation_p.1500_1501FP>LA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1604	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1604_P1605>LA(1)|p.P1605A(1)|p.F1604L(1)|p.F1564L(1)|p.P1565A(1)|p.F1564_P1565>LA(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATGGATGAGGGAAGTTTGGTG	0.371										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4813-4815)CCT>GCT|c.(4810-4812)TTC>TTA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519002G>C|g.chr8:113519003G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4812_4813delinsCT	8.37:g.113519002_113519003delinsCT	ENSP00000297405:p.F1604_P1605delinsLA	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P877A|CSMD3_uc003ynt.2_Missense_Mutation_p.P1565A|CSMD3_uc011lhx.1_Missense_Mutation_p.P1501A|CSMD3_uc003yns.2_Missense_Mutation_p.F876L|CSMD3_uc003ynt.2_Missense_Mutation_p.F1564L|CSMD3_uc011lhx.1_Missense_Mutation_p.F1500L	p.P1605A|p.F1604L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			29	4972|4971	-			1605|1604			Extracellular (Potential).|CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4813C>G|c.4812C>A	CCDS6315.1																																																																																				PASS	0.371	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	82|83	18	82	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564938	113564938	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:113564938C>A	ENST00000297405.5	-	26	4490	c.4246G>T	c.(4246-4248)Ggt>Tgt	p.G1416C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1416C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1376C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1312C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1416	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1376C(1)|p.G1416C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAAACGACCTCCACATTCA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4246-4248)GGT>TGT		CUB and Sushi multiple domains 3 isoform 1							71.0	68.0	69.0					8																	113564938		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113564938C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4246G>T	8.37:g.113564938C>A	ENSP00000297405:p.Gly1416Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G688C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1376C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1312C	p.G1416C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4405	-			1416			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4246G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552358	0.86127	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.93	4.93	0.64822	CUB (5);	0.000000	0.64402	D	0.000001	D	0.87609	0.6220	H	0.98314	4.2	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.79108	0.987;0.992;0.746	D	0.91853	0.5493	10	0.59425	D	0.04	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	1312;1416;1376	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1376;1416;756;1312;1416	ENSP00000345799:G1376C;ENSP00000297405:G1416C;ENSP00000341558:G756C;ENSP00000412263:G1312C;ENSP00000343124:G1416C	ENSP00000297405:G1416C	G	-	1	0	CSMD3	113634114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.719000	0.93026	0.655000	0.94253	GGT		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	49	33	49	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113871398	113871398	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:113871398G>A	ENST00000297405.5	-	11	1975	c.1731C>T	c.(1729-1731)gtC>gtT	p.V577V	CSMD3_ENST00000352409.3_Silent_p.V577V|CSMD3_ENST00000343508.3_Silent_p.V537V|CSMD3_ENST00000455883.2_Silent_p.V473V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	577	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V577V(1)|p.V537V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCTGTGATGACCCAGACAC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1729-1731)GTC>GTT		CUB and Sushi multiple domains 3 isoform 1							152.0	136.0	141.0					8																	113871398		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113871398G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1731C>T	8.37:g.113871398G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.V537V|CSMD3_uc011lhx.1_Silent_p.V473V	p.V577V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			11	1890	-			577			Extracellular (Potential).|CUB 3.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1731C>T	CCDS6315.1																																																																																				PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	142	36	142	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118159212	118159213	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:118159212_118159213CC>AA	ENST00000456015.2	+	2	91_92	c.91_92CC>AA	c.(91-93)CCg>AAg	p.P31K	SLC30A8_ENST00000521243.1_5'UTR|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521035.1_3'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	31					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.P31Q(3)|p.P31T(1)|p.P31K(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCAACAGAAACCGGTGAATAAA	0.52																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			5	Substitution - Missense(5)		lung(4)|large_intestine(1)	ovary(2)|skin(2)	4						c.(91-93)CCG>ACG|c.(91-93)CCG>CAG		solute carrier family 30 member 8																																				SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118159212C>A|g.chr8:118159213C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	Exception_encountered	8.37:g.118159212_118159213delinsAA	ENSP00000415011:p.Pro31Lys					SLC30A8_uc010mcz.2_5'UTR|SLC30A8_uc011lia.1_5'UTR|SLC30A8_uc003yog.2_5'UTR	p.P31T|p.P31Q	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		2	321|322	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		31			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.91C>A|c.92C>A	CCDS6322.1																																																																																				PASS	0.520	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		33|35	55	33	55	---	---	---	---
C8orf76	84933	broad.mit.edu	37	8	124232363	124232363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:124232363C>A	ENST00000276704.4	-	6	1174	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	375								p.E375*(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTGTATCTCTGTATGGAAC	0.363																																						uc003yqc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1123-1125)GAG>TAG		hypothetical protein LOC84933							94.0	89.0	91.0					8																	124232363		2203	4300	6503	SO:0001587	stop_gained	84933						binding	g.chr8:124232363C>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.1123G>T	8.37:g.124232363C>A	ENSP00000276704:p.Glu375*						p.E375*	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	1154	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		375					Q53HC1	Nonsense_Mutation	SNP	ENST00000276704.4	37	c.1123G>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964325	0.18583	.	.	ENSG00000189376	ENST00000276704	.	.	.	6.02	0.578	0.17391	.	0.622089	0.17337	N	0.177885	.	.	.	.	.	.	0.34163	D	0.668849	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-30.9942	10.8809	0.46937	0.0:0.3611:0.5608:0.0781	.	.	.	.	X	375	.	ENSP00000276704:E375X	E	-	1	0	C8orf76	124301544	0.166000	0.22962	0.011000	0.14972	0.033000	0.12548	0.469000	0.22067	0.380000	0.24823	0.655000	0.94253	GAG		PASS	0.363	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		31	116	31	116	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124547001	124547001	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:124547001T>C	ENST00000517956.1	-	2	361	c.170A>G	c.(169-171)tAt>tGt	p.Y57C	FBXO32_ENST00000443022.2_Missense_Mutation_p.Y57C	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	57					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.Y57C(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCAACATCATAGTTCAGGCT	0.368																																						uc003yqr.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|lung(1)	6						c.(169-171)TAT>TGT		F-box only protein 32 isoform 1							229.0	209.0	216.0					8																	124547001		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124547001T>C	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.170A>G	8.37:g.124547001T>C	ENSP00000428205:p.Tyr57Cys					FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.Y57C	p.Y57C	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	362	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		57					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.170A>G	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770750	0.49680	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.28454	1.61;1.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	N	0.11313	0.125	0.31144	N	0.706333	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08700	-1.0709	10	0.33141	T	0.24	8.8849	11.251	0.49026	0.0:0.0711:0.0:0.9289	.	57;57	A4KYM0;Q969P5	.;FBX32_HUMAN	C	57	ENSP00000428205:Y57C;ENSP00000390790:Y57C	ENSP00000390790:Y57C	Y	-	2	0	FBXO32	124616182	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.792000	0.47837	2.275000	0.75901	0.528000	0.53228	TAT		PASS	0.368	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			108	97	108	97	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139190802	139190802	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:139190802G>A	ENST00000395297.1	-	10	1175	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	335								p.L335L(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)			GTTCCTGGGTGAGATAAGTGG	0.498										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(1003-1005)CTC>CTT		hypothetical protein LOC51059							121.0	119.0	120.0					8																	139190802		2024	4199	6223	SO:0001819	synonymous_variant	51059							g.chr8:139190802G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1005C>T	8.37:g.139190802G>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L236L|FAM135B_uc003yuz.2_RNA	p.L335L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1176	-	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)		335					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1005C>T	CCDS6375.2																																																																																				PASS	0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	61	11	61	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630639	140630639	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:140630639G>T	ENST00000520439.1	-	2	1050	c.987C>A	c.(985-987)tcC>tcA	p.S329S	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.S329S	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	329					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S329S(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TGTAAGAGATGGAGTGGAAGT	0.557																																						uc003yvf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(985-987)TCC>TCA		potassium channel, subfamily K, member 9							98.0	98.0	98.0					8																	140630639		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630639G>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.987C>A	8.37:g.140630639G>T						KCNK9_uc003yvg.1_Silent_p.S329S|KCNK9_uc003yve.1_RNA	p.S329S	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	1051	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	329			Cytoplasmic (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.987C>A	CCDS6377.1																																																																																				PASS	0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		37	108	37	108	---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141415750	141415750	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:141415750C>T	ENST00000438773.2	-	6	1067	c.934G>A	c.(934-936)Gga>Aga	p.G312R	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G303R|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.G410R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	312					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.G410R(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTAGCACGTCCGATCTCAGTA	0.398																																						uc003yvj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(934-936)GGA>AGA		trafficking protein particle complex 9 isoform							143.0	121.0	129.0					8																	141415750		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141415750C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.934G>A	8.37:g.141415750C>T	ENSP00000405060:p.Gly312Arg					TRAPPC9_uc003yvh.2_Missense_Mutation_p.G410R|TRAPPC9_uc003yvi.1_Missense_Mutation_p.G303R	p.G312R	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			6	1068	-			312					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.934G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444414|3.444414	0.63178|0.63178	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;P;D|.	0.77557|.	0.99;0.822;0.978|.	T|T	0.52003|0.52003	-0.8633|-0.8633	9|5	0.15952|.	T|.	0.53|.	.|.	18.3274|18.3274	0.90259|0.90259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	312;303;410|.	Q96Q05;Q96Q05-3;Q96Q05-2|.	TPPC9_HUMAN;.;.|.	R|Q	410;303;312|155	.|.	ENSP00000373978:G303R|.	G|R	-|-	1|2	0|0	TRAPPC9|TRAPPC9	141484932|141484932	1.000000|1.000000	0.71417|0.71417	0.352000|0.352000	0.25734|0.25734	0.287000|0.287000	0.27160|0.27160	6.894000|6.894000	0.75655|0.75655	2.624000|2.624000	0.88883|0.88883	0.563000|0.563000	0.77884|0.77884	GGA|CGG		PASS	0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		20	79	20	79	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141559241	141559241	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:141559241G>C	ENST00000220592.5	-	12	1672	c.1560C>G	c.(1558-1560)gtC>gtG	p.V520V	AGO2_ENST00000519980.1_Silent_p.V520V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	520	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.V520V(1)									CGGGCAGGATGACCACCACCA	0.662																																						uc003yvn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1558-1560)GTC>GTG		argonaute 2 isoform 1							51.0	50.0	50.0					8																	141559241		2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141559241G>C	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1560C>G	8.37:g.141559241G>C						EIF2C2_uc010men.2_Silent_p.V443V|EIF2C2_uc010meo.2_Silent_p.V520V	p.V520V	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		12	1600	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	520			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.1560C>G	CCDS6380.1																																																																																				PASS	0.662	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			9	43	9	43	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143559588	143559588	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:143559588G>T	ENST00000517894.1	+	7	2322	c.1428G>T	c.(1426-1428)tgG>tgT	p.W476C	BAI1_ENST00000323289.5_Missense_Mutation_p.W476C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	476	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W476C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGTCGAGCTGGAGCGCCTGCT	0.677																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1426-1428)TGG>TGT		brain-specific angiogenesis inhibitor 1							21.0	28.0	25.0					8																	143559588		2048	4192	6240	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143559588G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1428G>T	8.37:g.143559588G>T	ENSP00000430945:p.Trp476Cys						p.W476C	NM_001702	NP_001693	O14514	BAI1_HUMAN			6	1611	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		476			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1428G>T		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769217	0.69992	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.77489	-1.1;-1.1	4.54	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.91875	0.7428	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92450	0.5969	10	0.36615	T	0.2	.	12.9226	0.58241	0.0:0.0:0.8362:0.1638	.	476	E9PBK0	.	C	476	ENSP00000430945:W476C;ENSP00000313046:W476C	ENSP00000313046:W476C	W	+	3	0	BAI1	143556590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.750000	0.85110	0.851000	0.35264	0.455000	0.32223	TGG		PASS	0.677	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	11	4	11	---	---	---	---
ZFP41	286128	broad.mit.edu	37	8	144332175	144332175	+	Silent	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:144332175T>G	ENST00000330701.4	+	2	531	c.162T>G	c.(160-162)ccT>ccG	p.P54P	ZFP41_ENST00000520584.1_Silent_p.P54P|ZFP41_ENST00000522452.1_Silent_p.P54P	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	54					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P54P(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCTGAGTCCTGAAGACGAAG	0.547																																						uc003yxw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(160-162)CCT>CCG		zinc finger protein 41 homolog							55.0	62.0	60.0					8																	144332175		2203	4300	6503	SO:0001819	synonymous_variant	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332175T>G		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.162T>G	8.37:g.144332175T>G						ZFP41_uc003yxv.2_RNA	p.P54P	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	520	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		54					D3DWJ5	Silent	SNP	ENST00000330701.4	37	c.162T>G	CCDS6397.1																																																																																				PASS	0.547	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		18	73	18	73	---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144413411	144413411	+	Missense_Mutation	SNP	A	A	G	rs528707532		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:144413411A>G	ENST00000329245.4	-	2	255	c.221T>C	c.(220-222)gTg>gCg	p.V74A	TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	74					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.V74A(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAAGAAACGCACTCCGTCGGG	0.637													A|||	1	0.000199681	0.0	0.0	5008	,	,		16019	0.001		0.0	False		,,,				2504	0.0					uc003yxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)GTG>GCG		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						99.0	96.0	97.0					8																	144413411		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144413411A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.221T>C	8.37:g.144413411A>G	ENSP00000328835:p.Val74Ala					TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR	p.V74A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	240	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		74					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.221T>C	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496212	0.64186	.	.	ENSG00000184428	ENST00000329245;ENST00000518007;ENST00000518760;ENST00000522043	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	3.51	3.51	0.40186	DNA topoisomerase I, domain 1 (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.168735	0.27349	N	0.019772	T	0.76842	0.4044	M	0.90542	3.125	0.80722	D	1	D	0.57257	0.979	D	0.64506	0.926	T	0.80705	-0.1263	10	0.66056	D	0.02	.	11.2593	0.49074	1.0:0.0:0.0:0.0	.	74	Q969P6	TOP1M_HUMAN	A	74;43;100;131	ENSP00000328835:V74A;ENSP00000430209:V43A;ENSP00000428723:V100A;ENSP00000428931:V131A	ENSP00000328835:V74A	V	-	2	0	TOP1MT	144484786	1.000000	0.71417	0.021000	0.16686	0.032000	0.12392	5.928000	0.70088	1.233000	0.43693	0.481000	0.45027	GTG		PASS	0.637	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		23	110	23	110	---	---	---	---
GSDMD	79792	broad.mit.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:144641548G>A	ENST00000526406.1	+	5	926	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GSDMD_ENST00000262580.4_Missense_Mutation_p.E15K|GSDMD_ENST00000533063.1_Missense_Mutation_p.E63K	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15					cellular response to extracellular stimulus (GO:0031668)			p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632																																						uc010mfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GAG>AAG		gasdermin D							78.0	71.0	74.0					8																	144641548		2203	4300	6503	SO:0001583	missense	79792							g.chr8:144641548G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.43G>A	8.37:g.144641548G>A	ENSP00000433209:p.Glu15Lys					uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.E63K|GSDMD_uc003yyi.2_Missense_Mutation_p.E15K|GSDMD_uc003yyg.2_Missense_Mutation_p.E15K|GSDMD_uc003yyh.2_Missense_Mutation_p.E15K	p.E15K	NM_024736	NP_079012	P57764	GSDMD_HUMAN			5	746	+			15					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.43G>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849519	0.71603	.	.	ENSG00000104518	ENST00000526406;ENST00000529854;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	4.88	4.88	0.63580	.	0.100095	0.43919	D	0.000504	T	0.64068	0.2565	M	0.86343	2.81	0.34626	D	0.719158	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.997;0.994	T	0.77595	-0.2529	10	0.87932	D	0	-50.5482	13.3904	0.60821	0.0:0.0:1.0:0.0	.	45;15;15;63	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	K	15;15;15;63;15;15;31;15	ENSP00000433209:E15K;ENSP00000432351:E15K;ENSP00000434386:E15K;ENSP00000433958:E63K;ENSP00000262580:E15K;ENSP00000434452:E15K;ENSP00000436684:E31K;ENSP00000437065:E15K	ENSP00000262580:E15K	E	+	1	0	GSDMD	144712691	1.000000	0.71417	0.988000	0.46212	0.235000	0.25334	4.664000	0.61540	2.528000	0.85240	0.643000	0.83706	GAG		PASS	0.632	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		36	51	36	51	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146106968	146106968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:146106968C>A	ENST00000292579.7	-	6	1731	c.1615G>T	c.(1615-1617)Gag>Tag	p.E539*	ZNF250_ENST00000417550.2_Nonsense_Mutation_p.E534*|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	539					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.E539*(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CGCCCACACTCCCCGCACTCA	0.557																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1615-1617)GAG>TAG		zinc finger protein 250 isoform a							77.0	61.0	66.0					8																	146106968		2203	4300	6503	SO:0001587	stop_gained	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146106968C>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1615G>T	8.37:g.146106968C>A	ENSP00000292579:p.Glu539*					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Nonsense_Mutation_p.E534*|ZNF250_uc010mgg.2_Nonsense_Mutation_p.E534*	p.E539*	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1732	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		539			C2H2-type 13.		D3DWP1|Q59HE9|Q8N942|Q96AH9	Nonsense_Mutation	SNP	ENST00000292579.7	37	c.1615G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789900	0.90367	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	.	.	.	4.06	3.16	0.36331	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-43.568	13.4313	0.61057	0.0:0.8398:0.1602:0.0	.	.	.	.	X	539;534;422	.	ENSP00000292579:E539X	E	-	1	0	ZNF250	146077772	0.000000	0.05858	0.847000	0.33407	0.843000	0.47879	0.468000	0.22051	1.283000	0.44513	-0.494000	0.04653	GAG		PASS	0.557	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		5	28	5	28	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5720617	5720617	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:5720617G>A	ENST00000414202.2	+	6	778	c.587G>A	c.(586-588)gGt>gAt	p.G196D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.G196D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G117D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G117D|RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G117D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.G117D(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCATCAGTAGGTTCATTCCTG	0.343																																						uc003zji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GGT>GAT		connexin 43-interacting protein 150 isoform a							153.0	145.0	148.0					9																	5720617		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5720617G>A																												ENST00000414202.2:c.587G>A	9.37:g.5720617G>A	ENSP00000416696:p.Gly196Asp					KIAA1432_uc003zjh.2_Missense_Mutation_p.G117D|KIAA1432_uc003zjl.3_Missense_Mutation_p.G117D|KIAA1432_uc003zjj.1_5'UTR	p.G117D	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	5	443	+		Acute lymphoblastic leukemia(23;0.154)	196						Missense_Mutation	SNP	ENST00000414202.2	37	c.350G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347245	0.61183	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T;T;T	0.70869	1.57;1.57;-0.52;-0.52;-0.52	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.52573	1.65	0.80722	D	1	D;D;P	0.65815	0.994;0.995;0.949	P;P;P	0.60236	0.795;0.871;0.596	T	0.70608	-0.4825	10	0.12430	T	0.62	-16.0975	19.3079	0.94171	0.0:0.0:1.0:0.0	.	117;196;196	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	D	196;196;117;117;117	ENSP00000251879:G196D;ENSP00000416696:G196D;ENSP00000370943:G117D;ENSP00000402240:G117D;ENSP00000398823:G117D	ENSP00000251879:G196D	G	+	2	0	KIAA1432	5710617	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.471000	0.90403	2.620000	0.88729	0.563000	0.77884	GGT		PASS	0.343	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			335	65	335	65	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14801851	14801851	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:14801851C>G	ENST00000380880.3	-	20	4276	c.3493G>C	c.(3493-3495)Gag>Cag	p.E1165Q	FREM1_ENST00000380881.4_Missense_Mutation_p.E1166Q|FREM1_ENST00000422223.2_Missense_Mutation_p.E1165Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1165					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.E1166Q(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTCCAGCTCTTTCATCTGA	0.473																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3493-3495)GAG>CAG		FRAS1 related extracellular matrix 1 precursor							130.0	127.0	128.0					9																	14801851		2038	4203	6241	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14801851C>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3493G>C	9.37:g.14801851C>G	ENSP00000370262:p.Glu1165Gln					FREM1_uc010mic.2_RNA	p.E1165Q	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4083	-			1165			CSPG 8.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3493G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929502	0.18131	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29142	1.58;1.58;1.58	5.5	4.61	0.57282	.	0.211020	0.49916	D	0.000140	T	0.25680	0.0625	L	0.43923	1.385	0.37236	D	0.905888	B	0.34015	0.435	B	0.34590	0.186	T	0.11251	-1.0595	10	0.14252	T	0.57	-20.9543	12.7891	0.57522	0.0:0.9236:0.0:0.0764	.	1165	Q5H8C1	FREM1_HUMAN	Q	1166;1165;1165	ENSP00000370263:E1166Q;ENSP00000412940:E1165Q;ENSP00000370262:E1165Q	ENSP00000370257:E1168Q	E	-	1	0	FREM1	14791851	1.000000	0.71417	0.885000	0.34714	0.010000	0.07245	4.905000	0.63286	1.321000	0.45227	-0.150000	0.13652	GAG		PASS	0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		27	188	27	188	---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15177792	15177792	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:15177792C>A	ENST00000512701.2	-	18	1780	c.1744G>T	c.(1744-1746)Gat>Tat	p.D582Y	TTC39B_ENST00000507285.1_Missense_Mutation_p.D417Y|TTC39B_ENST00000297615.5_Missense_Mutation_p.D513Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D569Y|TTC39B_ENST00000507993.1_Missense_Mutation_p.D417Y|TTC39B_ENST00000355694.2_Missense_Mutation_p.D516Y			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	582								p.D516Y(1)|p.D582Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CACTCATCATCCACAGAGAAG	0.328																																						uc003zlr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1546-1548)GAT>TAT		tetratricopeptide repeat domain 39B							83.0	73.0	76.0					9																	15177792		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15177792C>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1744G>T	9.37:g.15177792C>A	ENSP00000422496:p.Asp582Tyr					TTC39B_uc003zlq.1_Missense_Mutation_p.D485Y|TTC39B_uc011lmp.1_Missense_Mutation_p.D417Y|TTC39B_uc010mie.1_Missense_Mutation_p.D514Y|TTC39B_uc011lmq.1_Missense_Mutation_p.D503Y|TTC39B_uc011lmr.1_Missense_Mutation_p.D447Y|TTC39B_uc003zlp.1_Missense_Mutation_p.D99Y	p.D516Y	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			18	1667	-			516					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1546G>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946318	0.73672	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.91	5.91	0.95273	.	0.103048	0.64402	D	0.000004	T	0.78502	0.4293	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.99;0.994;0.998;0.998;0.947	T	0.80195	-0.1483	10	0.87932	D	0	-9.6854	18.0782	0.89435	0.0:1.0:0.0:0.0	.	513;569;514;516;99	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	Y	569;513;516;582;417;417	ENSP00000370231:D569Y;ENSP00000297615:D513Y;ENSP00000347920:D516Y;ENSP00000422496:D582Y;ENSP00000426539:D417Y;ENSP00000423392:D417Y	ENSP00000297615:D513Y	D	-	1	0	TTC39B	15167792	0.999000	0.42202	0.853000	0.33588	0.804000	0.45430	5.530000	0.67141	2.814000	0.96858	0.650000	0.86243	GAT		PASS	0.328	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		86	14	86	14	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32632175	32632175	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:32632175G>C	ENST00000242310.4	-	1	3492	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1135					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q1135E(1)|p.Q1135*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTGACAGCTGAGAGCTGGTT	0.468																																						uc003zrg.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.Q1135*(1)	lung(1)|breast(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3403-3405)CAG>GAG		TBP-associated factor RNA polymerase 1-like							217.0	171.0	186.0					9																	32632175		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632175G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3403C>G	9.37:g.32632175G>C	ENSP00000418379:p.Gln1135Glu					uc003zrh.1_5'Flank	p.Q1135E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3493	-			1135					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3403C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280697	0.40294	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.45698	1.435	0.50171	D	0.999858	B	0.19200	0.034	B	0.17098	0.017	T	0.22068	-1.0227	10	0.39692	T	0.17	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1135	Q8IZX4	TAF1L_HUMAN	E	1135	ENSP00000418379:Q1135E	ENSP00000418379:Q1135E	Q	-	1	0	TAF1L	32622175	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CAG		PASS	0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			25	99	25	99	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73478022	73478022	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:73478022G>A	ENST00000377111.2	-	3	507	c.264C>T	c.(262-264)tgC>tgT	p.C88C	TRPM3_ENST00000377110.3_Silent_p.C88C|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000377097.3_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000423814.3_Silent_p.C90C|TRPM3_ENST00000357533.2_Silent_p.C90C|TRPM3_ENST00000377101.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	88					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.C88C(1)|p.C90C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GACGCCCACAGCAACACCTAT	0.478																																						uc004aid.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(262-264)TGC>TGT		transient receptor potential cation channel,							65.0	70.0	69.0					9																	73478022		2200	4296	6496	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73478022G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.264C>T	9.37:g.73478022G>A						TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.C88C|TRPM3_uc010mor.2_Silent_p.C88C|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.C90C	p.C88C	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			3	508	-			88			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.264C>T																																																																																					PASS	0.478	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		21	63	21	63	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74810478	74810478	+	Silent	SNP	G	G	C	rs146363148	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:74810478G>C	ENST00000358399.3	+	2	279	c.186G>C	c.(184-186)ccG>ccC	p.P62P	GDA_ENST00000376989.3_Silent_p.P37P|GDA_ENST00000376986.1_Silent_p.P20P|GDA_ENST00000238018.4_Silent_p.P62P|GDA_ENST00000545168.1_5'UTR|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	62					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.P62P(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCTTCAAGCCGTGTGAAATAA	0.363																																						uc004aiq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(184-186)CCG>CCC		guanine deaminase							72.0	69.0	70.0					9																	74810478		2203	4300	6503	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74810478G>C	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.186G>C	9.37:g.74810478G>C						GDA_uc011lse.1_5'UTR|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.P62P|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.P20P|GDA_uc004ait.1_5'UTR	p.P62P	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	2	369	+		Myeloproliferative disorder(762;0.0122)	62					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.186G>C	CCDS6641.1																																																																																				PASS	0.363	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			14	43	14	43	---	---	---	---
C9orf40	55071	broad.mit.edu	37	9	77567353	77567353	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:77567353C>T	ENST00000376854.5	-	1	449	c.175G>A	c.(175-177)Gac>Aac	p.D59N	RP11-197P3.4_ENST00000455609.1_RNA	NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	59								p.D59N(1)		lung(2)|stomach(1)	3						GTCCCTGCGTCGATTTTGCGC	0.711																																						uc004ajo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GAC>AAC		hypothetical protein LOC55071							12.0	12.0	12.0					9																	77567353		2104	4184	6288	SO:0001583	missense	55071							g.chr9:77567353C>T	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.175G>A	9.37:g.77567353C>T	ENSP00000366050:p.Asp59Asn					uc004ajp.2_5'Flank	p.D59N	NM_017998	NP_060468	Q8IXQ3	CI040_HUMAN			1	450	-			59					Q9NWD3	Missense_Mutation	SNP	ENST00000376854.5	37	c.175G>A	CCDS6648.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468177	0.43839	.	.	ENSG00000135045	ENST00000376854	.	.	.	5.21	4.31	0.51392	.	0.407178	0.20732	N	0.086683	T	0.33323	0.0859	L	0.54323	1.7	0.09310	N	1	P	0.46327	0.876	B	0.42319	0.383	T	0.14671	-1.0464	9	0.33940	T	0.23	-4.1844	9.6043	0.39624	0.0:0.9028:0.0:0.0972	.	59	Q8IXQ3	CI040_HUMAN	N	59	.	ENSP00000366050:D59N	D	-	1	0	C9orf40	76757173	0.976000	0.34144	0.012000	0.15200	0.400000	0.30750	3.091000	0.50199	1.207000	0.43291	0.305000	0.20034	GAC		PASS	0.711	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		6	26	6	26	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79319808	79319808	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:79319808C>G	ENST00000376718.3	-	8	7505	c.7382G>C	c.(7381-7383)cGt>cCt	p.R2461P	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R2102P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2461					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R2461P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGGTCTTCACGAATATGCAG	0.473											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7381-7383)CGT>CCT		prune homolog 2							64.0	55.0	58.0					9																	79319808		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319808C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7382G>C	9.37:g.79319808C>G	ENSP00000365908:p.Arg2461Pro		OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1190	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.R2461P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	7506	-			2461					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7382G>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030035	0.07543	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.46451	0.87;0.87	5.93	2.3	0.28687	.	0.947883	0.08846	N	0.885166	T	0.25419	0.0618	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.25882	-1.0119	10	0.72032	D	0.01	-2.0E-4	5.1302	0.14905	0.0:0.1993:0.2697:0.531	.	2461	Q8WUY3	PRUN2_HUMAN	P	2461;2102;2460	ENSP00000365908:R2461P;ENSP00000397425:R2102P	ENSP00000365908:R2461P	R	-	2	0	PRUNE2	78509628	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	0.306000	0.19279	0.133000	0.18654	-1.023000	0.02433	CGT		PASS	0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	15	3	15	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465456	79465456	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:79465456C>A	ENST00000376718.3	-	3	390	c.267G>T	c.(265-267)cgG>cgT	p.R89R	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.R89R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	89					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R89R(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAATTTCATCCCGGAATATGT	0.418																																						uc010mpk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(265-267)CGG>CGT		prune homolog 2							155.0	155.0	155.0					9																	79465456		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465456C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.267G>T	9.37:g.79465456C>A						PRUNE2_uc004akn.2_Silent_p.R89R	p.R89R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			3	391	-			89					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.267G>T	CCDS47982.1																																																																																				PASS	0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		44	169	44	169	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606478	84606478	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:84606478G>T	ENST00000344803.2	+	4	1140	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	365					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D365Y(2)									TCATGCCAAGGACTCTTTTTC	0.498																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1093-1095)GAC>TAC		hypothetical protein LOC389763							136.0	124.0	127.0					9																	84606478		1887	4114	6001	SO:0001583	missense	389763					integral to membrane		g.chr9:84606478G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1093G>T	9.37:g.84606478G>T	ENSP00000341988:p.Asp365Tyr						p.D365Y	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1140	+			365						Missense_Mutation	SNP	ENST00000344803.2	37	c.1093G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548078	0.27652	.	.	ENSG00000214929	ENST00000344803	T	0.05786	3.39	2.87	-0.652	0.11450	.	1.687740	0.03596	N	0.232567	T	0.19127	0.0459	M	0.70595	2.14	0.09310	N	1	D	0.53745	0.962	P	0.60012	0.867	T	0.15521	-1.0434	10	0.66056	D	0.02	-1.4626	5.5002	0.16825	0.5369:0.0:0.4631:0.0	.	365	Q6ZQQ2	F75D1_HUMAN	Y	365	ENSP00000341988:D365Y	ENSP00000341988:D365Y	D	+	1	0	FAM75D1	83796298	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.015000	0.13355	-0.123000	0.11745	0.650000	0.86243	GAC		PASS	0.498	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		28	82	28	82	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84607348	84607348	+	Missense_Mutation	SNP	C	C	T	rs142037367	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:84607348C>T	ENST00000344803.2	+	4	2010	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	655					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P655S(2)									TCCTCCAGCTCCCAATCCTGA	0.468																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1963-1965)CCC>TCC		hypothetical protein LOC389763							91.0	92.0	92.0					9																	84607348		1854	4100	5954	SO:0001583	missense	389763					integral to membrane		g.chr9:84607348C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1963C>T	9.37:g.84607348C>T	ENSP00000341988:p.Pro655Ser						p.P655S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2010	+			655						Missense_Mutation	SNP	ENST00000344803.2	37	c.1963C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568027	0.45798	.	.	ENSG00000214929	ENST00000344803	T	0.10192	2.9	3.44	2.53	0.30540	.	0.266919	0.27189	N	0.020506	T	0.16896	0.0406	L	0.55481	1.735	0.09310	N	1	P	0.47604	0.898	P	0.53224	0.721	T	0.04781	-1.0927	10	0.30078	T	0.28	-13.5452	8.8876	0.35414	0.0:0.7696:0.2304:0.0	.	655	Q6ZQQ2	F75D1_HUMAN	S	655	ENSP00000341988:P655S	ENSP00000341988:P655S	P	+	1	0	FAM75D1	83797168	0.002000	0.14202	0.312000	0.25196	0.220000	0.24768	0.950000	0.29122	0.793000	0.33875	-0.168000	0.13345	CCC		PASS	0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		61	66	61	66	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84607883	84607883	+	Missense_Mutation	SNP	G	G	C	rs372310314	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:84607883G>C	ENST00000344803.2	+	4	2545	c.2498G>C	c.(2497-2499)cGt>cCt	p.R833P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	833					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R833P(2)									CTGACAGTACGTTTGAGCAAG	0.448																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2497-2499)CGT>CCT		hypothetical protein LOC389763							93.0	83.0	86.0					9																	84607883		1865	4095	5960	SO:0001583	missense	389763					integral to membrane		g.chr9:84607883G>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2498G>C	9.37:g.84607883G>C	ENSP00000341988:p.Arg833Pro						p.R833P	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2545	+			833						Missense_Mutation	SNP	ENST00000344803.2	37	c.2498G>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	8.730	0.916338	0.17907	.	.	ENSG00000214929	ENST00000344803	T	0.06449	3.3	2.7	2.7	0.31948	.	0.120487	0.37530	N	0.002044	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.17433	0.018	T	0.40289	-0.9571	10	0.44086	T	0.13	-9.6595	4.7609	0.13108	0.8489:0.0:0.1511:0.0	.	833	Q6ZQQ2	F75D1_HUMAN	P	833	ENSP00000341988:R833P	ENSP00000341988:R833P	R	+	2	0	FAM75D1	83797703	0.128000	0.22383	0.013000	0.15412	0.029000	0.11900	0.949000	0.29109	0.470000	0.27294	-0.368000	0.07277	CGT		PASS	0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		16	77	16	77	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90499964	90499964	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:90499964A>T	ENST00000325643.5	+	4	628	c.562A>T	c.(562-564)Agc>Tgc	p.S188C		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	188	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S188C(1)									GTCTCCTGCCAGCTTGTCCCC	0.622																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(562-564)AGC>TGC		chromosome 9 open reading frame 79							81.0	86.0	84.0					9																	90499964		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90499964A>T	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.562A>T	9.37:g.90499964A>T	ENSP00000322640:p.Ser188Cys					C9orf79_uc004apo.1_Intron	p.S188C	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	597	+			188			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.562A>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	7.226	0.598380	0.13939	.	.	ENSG00000177992	ENST00000325643	T	0.03745	3.82	2.2	-0.391	0.12446	.	5.181520	0.00702	N	0.000794	T	0.02083	0.0065	N	0.03608	-0.345	0.09310	N	1	B	0.18741	0.03	B	0.20384	0.029	T	0.40942	-0.9536	10	0.40728	T	0.16	.	2.2085	0.03942	0.4337:0.3194:0.247:0.0	.	188	Q6ZUB1	CI079_HUMAN	C	188	ENSP00000322640:S188C	ENSP00000322640:S188C	S	+	1	0	C9orf79	89689784	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.349000	0.07731	-0.087000	0.12528	0.416000	0.27883	AGC		PASS	0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	122	29	122	---	---	---	---
RP13-60M5.2	0	broad.mit.edu	37	9	91262462	91262462	+	lincRNA	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:91262462C>G	ENST00000418343.2	-	0	289																											GTTATCATCTCTCCTGTTTTG	0.433																																						uc010mql.1																			0					0						c.(181-183)GAG>CAG		hypothetical protein LOC286238							176.0	168.0	171.0					9																	91262462		1937	4135	6072			286238							g.chr9:91262462C>G																													9.37:g.91262462C>G							p.E61Q	NM_001100111	NP_001093581					2	314	-									Missense_Mutation	SNP	ENST00000418343.2	37	c.181G>C																																																																																					PASS	0.433	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			27	135	27	135	---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100232920	100232920	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:100232920C>G	ENST00000355295.4	+	9	2005	c.1710C>G	c.(1708-1710)ctC>ctG	p.L570L	TDRD7_ENST00000422139.2_Silent_p.L496L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	570	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.L570L(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTTGTTCACTCTCATTTCAAG	0.323																																						uc004axj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1708-1710)CTC>CTG		tudor domain containing 7							76.0	79.0	78.0					9																	100232920		2202	4298	6500	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100232920C>G	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1710C>G	9.37:g.100232920C>G						TDRD7_uc011lux.1_Silent_p.L496L|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_5'UTR	p.L570L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			9	1935	+		Acute lymphoblastic leukemia(62;0.158)	570			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.1710C>G	CCDS6725.1																																																																																				PASS	0.323	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	91	3	91	---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107457019	107457019	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:107457019C>G	ENST00000318763.5	+	1	360	c.317C>G	c.(316-318)aCa>aGa	p.T106R		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T106R(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCTGTTACACATCCTCATCC	0.428																																						uc011lvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)ACA>AGA		olfactory receptor, family 13, subfamily D,							246.0	247.0	247.0					9																	107457019		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457019C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.317C>G	9.37:g.107457019C>G	ENSP00000317357:p.Thr106Arg						p.T106R	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	317	+			106			Helical; Name=2; (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.317C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009209	0.54361	.	.	ENSG00000179055	ENST00000318763	T	0.00584	6.4	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.03608	0.0103	H	0.97707	4.06	0.18873	N	0.999981	D	0.54964	0.969	P	0.54372	0.75	T	0.10870	-1.0611	10	0.87932	D	0	.	13.0659	0.59032	0.0:1.0:0.0:0.0	.	106	Q8NGV5	O13D1_HUMAN	R	106	ENSP00000317357:T106R	ENSP00000317357:T106R	T	+	2	0	OR13D1	106496840	0.000000	0.05858	0.530000	0.27963	0.969000	0.65631	0.851000	0.27751	1.917000	0.55516	0.609000	0.83330	ACA		PASS	0.428	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			205	279	205	279	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689124	109689124	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:109689124G>T	ENST00000277225.5	+	3	3220	c.2931G>T	c.(2929-2931)ctG>ctT	p.L977L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.L977L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	977					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L977L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCAGACCCTGAGGGAGATTC	0.498																																						uc004bcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(2929-2931)CTG>CTT		zinc finger protein 462							74.0	77.0	76.0					9																	109689124		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689124G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2931G>T	9.37:g.109689124G>T						ZNF462_uc010mto.2_Silent_p.L825L|ZNF462_uc004bda.2_Silent_p.L825L	p.L977L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	3220	+			977					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2931G>T	CCDS35096.1																																																																																				PASS	0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	103	9	103	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114182345	114182345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:114182345G>C	ENST00000338205.5	-	15	1730	c.1511C>G	c.(1510-1512)tCa>tGa	p.S504*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.S682*			Q5VYK3	ECM29_HUMAN	KIAA0368	510					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.S682*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATATGATCTGAGGGAAACAC	0.398																																						uc004bfe.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2044-2046)TCA>TGA		KIAA0368 protein							103.0	100.0	101.0					9																	114182345		1875	4108	5983	SO:0001587	stop_gained	23392							g.chr9:114182345G>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1511C>G	9.37:g.114182345G>C	ENSP00000339889:p.Ser504*					KIAA0368_uc010muc.1_Nonsense_Mutation_p.S504*	p.S682*	NM_001080398	NP_001073867					17	2045	-								O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37	c.2045C>G		.	.	.	.	.	.	.	.	.	.	G	42	9.381394	0.99155	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	.	.	.	5.56	5.56	0.83823	.	0.131220	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.5334	0.95239	0.0:0.0:1.0:0.0	.	.	.	.	X	504;682	.	ENSP00000259335:S682X	S	-	2	0	KIAA0368	113222166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.500000	0.81588	2.616000	0.88540	0.650000	0.86243	TCA		PASS	0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		25	93	25	93	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116345834	116345834	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:116345834G>C	ENST00000374140.2	+	21	2351	c.2142G>C	c.(2140-2142)caG>caC	p.Q714H	RGS3_ENST00000462143.1_Missense_Mutation_p.Q35H|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.Q433H|RGS3_ENST00000350696.5_Missense_Mutation_p.Q714H|RGS3_ENST00000374134.3_Missense_Mutation_p.Q35H|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	714	Pro-rich.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q714H(1)|p.Q610H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCTGGCCAGGAGCTTCCTC	0.607																																						uc004bhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(2140-2142)CAG>CAC		regulator of G-protein signalling 3 isoform 6							95.0	90.0	92.0					9																	116345834		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116345834G>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2142G>C	9.37:g.116345834G>C	ENSP00000363255:p.Gln714His					RGS3_uc004bhs.2_Missense_Mutation_p.Q604H|RGS3_uc004bht.2_Missense_Mutation_p.Q433H|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.Q35H|RGS3_uc010muz.1_Missense_Mutation_p.Q53H|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.Q24H|RGS3_uc004bhx.2_Missense_Mutation_p.Q35H|RGS3_uc004bhy.1_Missense_Mutation_p.Q24H|RGS3_uc004bhz.2_Missense_Mutation_p.Q56H	p.Q714H	NM_144488	NP_652759	P49796	RGS3_HUMAN			21	2351	+			714			Pro-rich.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2142G>C	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.13|15.13	2.741846|2.741846	0.49151|0.49151	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000496113|ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000471324;ENST00000467805	.|T;T;T;T;T;T	.|0.80123	.|0.76;0.76;0.26;0.14;0.14;-1.34	4.82|4.82	2.99|2.99	0.34606|0.34606	.|.	.|0.274127	.|0.30036	.|N	.|0.010576	T|T	0.75642|0.75642	0.3877|0.3877	L|L	0.44542|0.44542	1.39|1.39	0.21697|0.21697	N|N	0.999582|0.999582	.|P;P;P;P;P;P	.|0.49559	.|0.925;0.904;0.874;0.904;0.845;0.906	.|P;B;P;B;B;P	.|0.48141	.|0.568;0.439;0.518;0.439;0.36;0.459	T|T	0.67473|0.67473	-0.5662|-0.5662	5|10	.|0.72032	.|D	.|0.01	.|.	6.6938|6.6938	0.23187|0.23187	0.2843:0.0:0.7157:0.0|0.2843:0.0:0.7157:0.0	.|.	.|53;610;35;433;604;714	.|B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.|.;.;.;.;.;RGS3_HUMAN	R|H	169|714;714;433;35;35;35;35;35	.|ENSP00000363255:Q714H;ENSP00000259406:Q714H;ENSP00000340284:Q433H;ENSP00000420356:Q35H;ENSP00000363249:Q35H;ENSP00000417994:Q35H	.|ENSP00000340284:Q433H	G|Q	+|+	1|3	0|2	RGS3|RGS3	115385655|115385655	0.941000|0.941000	0.31946|0.31946	0.695000|0.695000	0.30226|0.30226	0.922000|0.922000	0.55478|0.55478	0.769000|0.769000	0.26604|0.26604	0.759000|0.759000	0.33084|0.33084	0.655000|0.655000	0.94253|0.94253	GGA|CAG		PASS	0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		46	66	46	66	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119028236	119028236	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:119028236G>T	ENST00000328252.3	+	8	3202	c.2833G>T	c.(2833-2835)Ggg>Tgg	p.G945W	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	945					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G945W(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGAAGTGGGTACTGTGG	0.433																																						uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(2833-2835)GGG>TGG		pregnancy-associated plasma protein A							101.0	93.0	96.0					9																	119028236		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119028236G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2833G>T	9.37:g.119028236G>T	ENSP00000330658:p.Gly945Trp					PAPPA_uc011lxp.1_Missense_Mutation_p.G640W|PAPPA_uc011lxq.1_Missense_Mutation_p.G320W	p.G945W	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			8	3214	+			945					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2833G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995400	0.74703	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.42900	0.96	5.28	5.28	0.74379	.	0.098468	0.64402	D	0.000001	T	0.65344	0.2682	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68511	-0.5389	10	0.72032	D	0.01	-17.1125	17.6818	0.88246	0.0:0.0:1.0:0.0	.	389;945	E7EMD3;Q13219	.;PAPP1_HUMAN	W	945;389	ENSP00000330658:G945W	ENSP00000330658:G945W	G	+	1	0	PAPPA	118068057	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.694000	0.61760	2.462000	0.83206	0.557000	0.71058	GGG		PASS	0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		21	52	21	52	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122075479	122075479	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:122075479C>A	ENST00000265922.3	-	2	616	c.155G>T	c.(154-156)aGg>aTg	p.R52M	BRINP1_ENST00000373964.2_Missense_Mutation_p.R52M	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	52					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R52M(1)									TAGGTAGCTCCTGGAGTGGTG	0.483																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(154-156)AGG>ATG		deleted in bladder cancer 1 precursor							96.0	94.0	95.0					9																	122075479		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075479C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.155G>T	9.37:g.122075479C>A	ENSP00000265922:p.Arg52Met					DBC1_uc004bkd.2_Missense_Mutation_p.R52M	p.R52M	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	611	-			52					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.155G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898820	0.52227	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.84146	-1.81;-1.81	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	N	0.08118	0	0.58432	D	0.999998	D;P	0.54207	0.965;0.948	P;P	0.54590	0.726;0.756	D	0.86319	0.1691	10	0.62326	D	0.03	-19.8385	18.859	0.92265	0.0:1.0:0.0:0.0	.	52;52	O60477-2;O60477	.;DBC1_HUMAN	M	52	ENSP00000265922:R52M;ENSP00000363075:R52M	ENSP00000265922:R52M	R	-	2	0	DBC1	121115300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.473000	0.83533	0.561000	0.74099	AGG		PASS	0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		21	121	21	121	---	---	---	---
OR1L3	26735	broad.mit.edu	37	9	125437982	125437982	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:125437982A>T	ENST00000304820.2	+	1	668	c.574A>T	c.(574-576)Acc>Tcc	p.T192S		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTGCTCCTCCACCTTTGTCAA	0.438																																						uc011lzb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(574-576)ACC>TCC		olfactory receptor, family 1, subfamily L,							187.0	176.0	180.0					9																	125437982		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125437982A>T		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.574A>T	9.37:g.125437982A>T	ENSP00000302863:p.Thr192Ser						p.T192S	NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN			1	574	+			192			Extracellular (Potential).		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.574A>T	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657275	0.47467	.	.	ENSG00000171481	ENST00000304820	T	0.00207	8.55	4.54	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000883	T	0.00440	0.0014	M	0.78916	2.43	0.09310	N	1	P	0.46578	0.88	P	0.58520	0.84	T	0.34650	-0.9820	10	0.72032	D	0.01	-13.217	10.9667	0.47416	0.8445:0.1555:0.0:0.0	.	192	Q8NH93	OR1L3_HUMAN	S	192	ENSP00000302863:T192S	ENSP00000302863:T192S	T	+	1	0	OR1L3	124477803	0.000000	0.05858	0.054000	0.19295	0.213000	0.24496	1.056000	0.30480	2.063000	0.61619	0.524000	0.50904	ACC		PASS	0.438	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			156	168	156	168	---	---	---	---
PDCL	5082	broad.mit.edu	37	9	125589053	125589053	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:125589053T>C	ENST00000259467.4	-	2	179	c.14A>G	c.(13-15)gAt>gGt	p.D5G		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	5					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)	p.D5G(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CAACTTATCATCAAGGGTGGT	0.517																																						uc004bmz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GAT>GGT		phosducin-like							148.0	122.0	131.0					9																	125589053		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125589053T>C	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.14A>G	9.37:g.125589053T>C	ENSP00000259467:p.Asp5Gly					PDCL_uc004bna.2_Missense_Mutation_p.D5G	p.D5G	NM_005388	NP_005379	Q13371	PHLP_HUMAN			2	110	-			5					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.14A>G	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739115	0.89573	.	.	ENSG00000136940	ENST00000259467	T	0.53857	0.6	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.74163	-0.3754	9	.	.	.	-26.466	15.1452	0.72643	0.0:0.0:0.0:1.0	.	5;5	Q4VXB6;Q13371	.;PHLP_HUMAN	G	5	ENSP00000259467:D5G	.	D	-	2	0	PDCL	124628874	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.500000	0.81588	2.169000	0.68431	0.533000	0.62120	GAT		PASS	0.517	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		41	149	41	149	---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125655289	125655289	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:125655289G>A	ENST00000373670.1	-	2	848	c.248C>T	c.(247-249)tCa>tTa	p.S83L	RC3H2_ENST00000373665.2_Missense_Mutation_p.S83L|RC3H2_ENST00000357244.2_Missense_Mutation_p.S83L|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000423239.2_Missense_Mutation_p.S83L|RC3H2_ENST00000471874.2_Missense_Mutation_p.S83L|RC3H2_ENST00000335387.5_Missense_Mutation_p.S83L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	83					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S83L(2)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TAACTTAATTGACTGATGATC	0.313																																						uc010mwc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(247-249)TCA>TTA		ring finger and CCCH-type zinc finger domains 2							112.0	101.0	105.0					9																	125655289		1820	4072	5892	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125655289G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.248C>T	9.37:g.125655289G>A	ENSP00000362774:p.Ser83Leu					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S83L|RC3H2_uc004bne.3_Missense_Mutation_p.S83L|RC3H2_uc011lzg.1_Missense_Mutation_p.S83L|RC3H2_uc004bng.1_Missense_Mutation_p.S83L	p.S83L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			3	489	-			83					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.248C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957274	0.53400	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.8	5.8	0.92144	.	0.393126	0.25845	N	0.027934	D	0.87144	0.6104	N	0.17082	0.46	0.40614	D	0.981704	B;B;B;B	0.09022	0.0;0.001;0.0;0.002	B;B;B;B	0.10450	0.001;0.002;0.003;0.005	T	0.82220	-0.0565	10	0.31617	T	0.26	0.1384	13.9418	0.64059	0.0:0.0:0.8483:0.1517	.	83;83;83;83	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	L	83	ENSP00000362774:S83L;ENSP00000349783:S83L;ENSP00000411767:S83L;ENSP00000362769:S83L;ENSP00000335150:S83L	ENSP00000335150:S83L	S	-	2	0	RC3H2	124695110	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.927000	0.70080	2.746000	0.94184	0.579000	0.79373	TCA		PASS	0.313	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		16	54	16	54	---	---	---	---
LHX2	9355	broad.mit.edu	37	9	126794808	126794808	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:126794808G>T	ENST00000373615.4	+	5	1782	c.1043G>T	c.(1042-1044)gGc>gTc	p.G348V	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	348					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G348V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACGCCATCGGGCCCGGCCTCG	0.662																																						uc004boe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GGC>GTC		LIM homeobox protein 2							57.0	62.0	61.0					9																	126794808		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794808G>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1043G>T	9.37:g.126794808G>T	ENSP00000362717:p.Gly348Val					LHX2_uc010mwi.1_Missense_Mutation_p.G356V	p.G348V	NM_004789	NP_004780	P50458	LHX2_HUMAN			5	1782	+			348					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1043G>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351367	0.61183	.	.	ENSG00000106689	ENST00000373615	D	0.84589	-1.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	N	0.12182	0.205	0.80722	D	1	D;D	0.63880	0.972;0.993	P;P	0.53649	0.689;0.731	T	0.77115	-0.2707	10	0.11182	T	0.66	.	18.7592	0.91843	0.0:0.0:1.0:0.0	.	348;348	B3KNJ5;P50458	.;LHX2_HUMAN	V	348	ENSP00000362717:G348V	ENSP00000362717:G348V	G	+	2	0	LHX2	125834629	1.000000	0.71417	0.988000	0.46212	0.400000	0.30750	7.282000	0.78630	2.655000	0.90218	0.655000	0.94253	GGC		PASS	0.662	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			19	74	19	74	---	---	---	---
PPP6C	5537	broad.mit.edu	37	9	127912174	127912174	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:127912174G>A	ENST00000373547.4	-	7	795	c.696C>T	c.(694-696)ctC>ctT	p.L232L	PPP6C_ENST00000451402.1_Silent_p.L269L|PPP6C_ENST00000373546.3_Silent_p.L85L|PPP6C_ENST00000415905.1_Silent_p.L210L	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	232					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.L232L(1)|p.L269L(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CTCTGCAGATGAGTTTTAAGT	0.353																																						uc004bpg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(694-696)CTC>CTT		protein phosphatase 6, catalytic subunit isoform							98.0	90.0	92.0					9																	127912174		2203	4300	6503	SO:0001819	synonymous_variant	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127912174G>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.696C>T	9.37:g.127912174G>A						PPP6C_uc010mwv.2_Silent_p.L269L|PPP6C_uc010mww.2_Silent_p.L210L|PPP6C_uc011lzr.1_Silent_p.L85L	p.L232L	NM_002721	NP_002712	O00743	PPP6_HUMAN			7	917	-			232					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	c.696C>T	CCDS6861.1																																																																																				PASS	0.353	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		17	46	17	46	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128117939	128117939	+	Silent	SNP	C	C	T	rs376087686		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:128117939C>T	ENST00000495955.1	+	25	4118	c.3828C>T	c.(3826-3828)acC>acT	p.T1276T	GAPVD1_ENST00000394083.2_Silent_p.T1210T|GAPVD1_ENST00000297933.6_Silent_p.T1258T|GAPVD1_ENST00000470056.1_Silent_p.T1231T|GAPVD1_ENST00000394105.2_Silent_p.T1285T|GAPVD1_ENST00000265956.4_Silent_p.T1250T|GAPVD1_ENST00000312123.9_Silent_p.T1237T|GAPVD1_ENST00000394104.2_Silent_p.T1276T			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1276					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.T1285T(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAAACTCACCGCAGCTGACG	0.323													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17045	0.0		0.0	False		,,,				2504	0.0					uc010mwx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3826-3828)ACC>ACT		GTPase activating protein and VPS9 domains 1		T		1,4405	2.1+/-5.4	0,1,2202	38.0	40.0	39.0		3855	-0.4	1.0	9		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GAPVD1	NM_015635.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1285/1488	128117939	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128117939C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3828C>T	9.37:g.128117939C>T						GAPVD1_uc004bpp.2_Silent_p.T1285T|GAPVD1_uc004bpq.2_Silent_p.T1258T|GAPVD1_uc004bpr.2_Silent_p.T1237T|GAPVD1_uc004bps.2_Silent_p.T1231T|GAPVD1_uc004bpt.2_Silent_p.T291T	p.T1276T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			25	4154	+			1276					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37	c.3828C>T																																																																																					PASS	0.323	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			12	49	12	49	---	---	---	---
CCBL1	883	broad.mit.edu	37	9	131597858	131597858	+	Missense_Mutation	SNP	C	C	T	rs139758426	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:131597858C>T	ENST00000302586.3	-	10	1106	c.944G>A	c.(943-945)cGc>cAc	p.R315H	CCBL1_ENST00000320665.6_Missense_Mutation_p.R265H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.R409H	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	315					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.R315H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GTCACGGCAGCGCTGCATGGC	0.587													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20606	0.0		0.0	False		,,,				2504	0.0					uc004bwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)CGC>CAC		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	C	HIS/ARG,HIS/ARG,HIS/ARG	18,4200		0,18,2091	67.0	69.0	68.0		944,794,944	0.5	0.3	9	dbSNP_134	68	0,8444		0,0,4222	yes	missense,missense,missense	CCBL1	NM_001122671.1,NM_001122672.1,NM_004059.4	29,29,29	0,18,6313	TT,TC,CC		0.0,0.4267,0.1422	benign,benign,benign	315/423,265/373,315/423	131597858	18,12644	2109	4222	6331	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597858C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.944G>A	9.37:g.131597858C>T	ENSP00000302227:p.Arg315His					CCBL1_uc004bwf.2_Missense_Mutation_p.R349H|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.R315H|CCBL1_uc004bwj.2_Missense_Mutation_p.R265H|CCBL1_uc011mbl.1_Missense_Mutation_p.R409H|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.R272H	p.R315H	NM_004059	NP_004050	Q16773	KAT1_HUMAN			10	1129	-			315					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.944G>A	CCDS43884.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	10.02	1.234863	0.22626	0.004267	0.0	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90620	-2.7;-2.7;-2.7	5.36	0.486	0.16836	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.644449	0.17075	N	0.188033	T	0.77922	0.4203	L	0.39898	1.24	0.24417	N	0.994631	B;B;B;B	0.15141	0.01;0.003;0.012;0.003	B;B;B;B	0.11329	0.004;0.003;0.006;0.003	T	0.69003	-0.5260	10	0.49607	T	0.09	-12.3753	3.4351	0.07442	0.2059:0.2284:0.0:0.5657	.	409;315;265;315	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	H	315;265;409	ENSP00000302227:R315H;ENSP00000317342:R265H;ENSP00000399415:R409H	ENSP00000302227:R315H	R	-	2	0	CCBL1	130637679	0.011000	0.17503	0.254000	0.24359	0.273000	0.26683	0.235000	0.17948	0.163000	0.19507	0.436000	0.28706	CGC		PASS	0.587	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			31	89	31	89	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135161823	135161823	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:135161823G>C	ENST00000224140.5	-	18	6565	c.6383C>G	c.(6382-6384)tCt>tGt	p.S2128C	SETX_ENST00000372169.2_Missense_Mutation_p.S2128C|SETX_ENST00000393220.1_Missense_Mutation_p.S2128C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2128					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S2128C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTAATTTTAGAAGCAAGTTC	0.299																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(6382-6384)TCT>TGT		senataxin							75.0	81.0	79.0					9																	135161823		2202	4299	6501	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135161823G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6383C>G	9.37:g.135161823G>C	ENSP00000224140:p.Ser2128Cys					SETX_uc004cbj.2_Missense_Mutation_p.S1747C|SETX_uc010mzt.2_Missense_Mutation_p.S1747C	p.S2128C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	18	6566	-		Myeloproliferative disorder(178;0.204)	2128			Potential.		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6383C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925459	0.73213	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.6	5.6	0.85130	.	0.544848	0.19162	N	0.121157	D	0.90021	0.6884	M	0.64567	1.98	0.40844	D	0.98369	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.98;0.996;0.991	D	0.90420	0.4416	10	0.72032	D	0.01	.	16.6996	0.85345	0.0:0.0:1.0:0.0	.	2128;2128;2128	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	C	2128;370;2128;2128	ENSP00000224140:S2128C;ENSP00000409143:S370C;ENSP00000361242:S2128C;ENSP00000376913:S2128C	ENSP00000224140:S2128C	S	-	2	0	SETX	134151644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.788000	0.95919	0.650000	0.86243	TCT		PASS	0.299	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		13	112	13	112	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135202559	135202559	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:135202559C>T	ENST00000224140.5	-	10	4608	c.4426G>A	c.(4426-4428)Gag>Aag	p.E1476K	SETX_ENST00000372169.2_Missense_Mutation_p.E1476K|SETX_ENST00000393220.1_Missense_Mutation_p.E1476K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1476					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1476K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCTGCCATCTCTATATGACGT	0.413																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4426-4428)GAG>AAG		senataxin							141.0	135.0	137.0					9																	135202559		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202559C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4426G>A	9.37:g.135202559C>T	ENSP00000224140:p.Glu1476Lys					SETX_uc004cbj.2_Missense_Mutation_p.E1095K|SETX_uc010mzt.2_Missense_Mutation_p.E1095K	p.E1476K	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4609	-		Myeloproliferative disorder(178;0.204)	1476					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4426G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062212	0.07317	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87256	-2.15;-2.23;-1.85	5.31	1.38	0.22167	.	2.382180	0.01550	N	0.019629	T	0.81288	0.4791	L	0.33485	1.01	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.63028	-0.6728	10	0.48119	T	0.1	.	4.9861	0.14190	0.1353:0.5983:0.0:0.2664	.	1476;1476;1476	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	1476	ENSP00000224140:E1476K;ENSP00000361242:E1476K;ENSP00000376913:E1476K	ENSP00000224140:E1476K	E	-	1	0	SETX	134192380	0.009000	0.17119	0.000000	0.03702	0.000000	0.00434	0.868000	0.27982	-0.008000	0.14320	-1.202000	0.01658	GAG		PASS	0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		43	151	43	151	---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554533	135554533	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:135554533G>C	ENST00000372146.4	+	2	2091	c.1527G>C	c.(1525-1527)caG>caC	p.Q509H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	509					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.Q509H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAAACTACCAGGTCCAATTTG	0.483																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1525-1527)CAG>CAC		general transcription factor IIIC 4							76.0	85.0	82.0					9																	135554533		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554533G>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1527G>C	9.37:g.135554533G>C	ENSP00000361219:p.Gln509His					GTF3C4_uc010mzw.2_RNA	p.Q509H	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1785	+			509					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1527G>C	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788396	0.49997	.	.	ENSG00000125484	ENST00000372146	T	0.49720	0.77	5.58	4.67	0.58626	.	0.110742	0.64402	N	0.000006	T	0.32734	0.0839	N	0.24115	0.695	0.50632	D	0.999887	B	0.10296	0.003	B	0.08055	0.003	T	0.13548	-1.0505	10	0.66056	D	0.02	-18.5999	8.9111	0.35555	0.0782:0.0:0.7705:0.1513	.	509	Q9UKN8	TF3C4_HUMAN	H	509	ENSP00000361219:Q509H	ENSP00000361219:Q509H	Q	+	3	2	GTF3C4	134544354	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.273000	0.43381	1.331000	0.45412	0.655000	0.94253	CAG		PASS	0.483	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			36	160	36	160	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136577802	136577802	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:136577802C>G	ENST00000371872.4	-	10	1524	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	SARDH_ENST00000422262.2_Missense_Mutation_p.E255Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E423Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	423					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.E423Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGCCAGCTCCTGCCCACAG	0.637																																						uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)GAG>CAG		sarcosine dehydrogenase precursor							56.0	57.0	57.0					9																	136577802		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136577802C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1267G>C	9.37:g.136577802C>G	ENSP00000360938:p.Glu423Gln					SARDH_uc004ceo.2_Missense_Mutation_p.E423Q|SARDH_uc011mdn.1_Missense_Mutation_p.E423Q|SARDH_uc011mdo.1_Missense_Mutation_p.E255Q	p.E423Q	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	10	1401	-			423					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1267G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	7.999	0.755058	0.15846	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	T;T;T	0.81415	-1.49;-1.49;-1.49	4.27	3.36	0.38483	FAD dependent oxidoreductase (1);	0.052083	0.85682	N	0.000000	T	0.61185	0.2327	N	0.04043	-0.29	0.80722	D	1	B	0.15141	0.012	B	0.19391	0.025	T	0.51482	-0.8700	10	0.20519	T	0.43	-26.0075	13.9795	0.64295	0.0:0.8469:0.1531:0.0	.	423	Q9UL12	SARDH_HUMAN	Q	423;423;255;423;423	ENSP00000360938:E423Q;ENSP00000403084:E423Q;ENSP00000415537:E255Q	ENSP00000360938:E423Q	E	-	1	0	SARDH	135567623	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.698000	0.61789	0.770000	0.33336	0.467000	0.42956	GAG		PASS	0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			15	71	15	71	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139100962	139100962	+	Missense_Mutation	SNP	G	G	A	rs368303324		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:139100962G>A	ENST00000358701.5	-	12	1746	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	570					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.T570M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TGCGGAATACGTGTCTAAGAG	0.577																																						uc010nbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1708-1710)ACG>ATG		quiescin Q6 sulfhydryl oxidase 2 precursor		G	MET/THR	0,4406		0,0,2203	96.0	94.0	95.0		1709	2.9	0.0	9		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	QSOX2	NM_181701.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	570/699	139100962	1,13005	2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100962G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1709C>T	9.37:g.139100962G>A	ENSP00000351536:p.Thr570Met						p.T570M	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	1747	-		Myeloproliferative disorder(178;0.0511)	570					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1709C>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227154	0.39399	0.0	1.16E-4	ENSG00000165661	ENST00000358701	T	0.18174	2.23	4.91	2.86	0.33363	.	0.412070	0.24920	N	0.034553	T	0.14830	0.0358	L	0.51422	1.61	0.09310	N	1	D	0.61697	0.99	P	0.45099	0.469	T	0.17531	-1.0366	10	0.51188	T	0.08	-8.8425	2.6924	0.05124	0.0984:0.1234:0.4014:0.3768	.	570	Q6ZRP7	QSOX2_HUMAN	M	570	ENSP00000351536:T570M	ENSP00000351536:T570M	T	-	2	0	QSOX2	138240783	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.401000	0.20948	1.051000	0.40369	0.558000	0.71614	ACG		PASS	0.577	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		25	141	25	141	---	---	---	---
FAM69B	138311	broad.mit.edu	37	9	139616741	139616741	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:139616741C>T	ENST00000371692.4	+	4	567	c.471C>T	c.(469-471)ctC>ctT	p.L157L	SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.L70L	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L157L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AGATGACCCTCAGCTTCCTCA	0.662																																						uc004cik.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)CTC>CTT		hypothetical protein LOC138311							28.0	31.0	30.0					9																	139616741		2202	4300	6502	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139616741C>T		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.471C>T	9.37:g.139616741C>T						FAM69B_uc004cil.2_Silent_p.L70L|SNHG7_uc004cim.2_RNA	p.L157L	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	4	565	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	157			Lumenal (Potential).		Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.471C>T	CCDS7004.1																																																																																				PASS	0.662	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		3	31	3	31	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139717980	139717980	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:139717980A>T	ENST00000311502.7	+	2	370	c.134A>T	c.(133-135)aAg>aTg	p.K45M	RABL6_ENST00000432842.2_Missense_Mutation_p.K7M|RABL6_ENST00000371671.4_Missense_Mutation_p.K45M|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_Missense_Mutation_p.K45M|RABL6_ENST00000357466.2_Missense_Mutation_p.K45M|RABL6_ENST00000371675.3_5'Flank			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	45	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.K45M(1)|p.K123M(1)									TCCCCAGTGAAGATAGTGATC	0.562																																						uc004cji.1																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)AAG>ATG		Rab-like GTP-binding protein 1 isoform 1							30.0	34.0	33.0					9																	139717980		1949	4146	6095	SO:0001583	missense	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139717980A>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.134A>T	9.37:g.139717980A>T	ENSP00000311134:p.Lys45Met					C9orf86_uc004cjm.2_Missense_Mutation_p.K45M|C9orf86_uc004cjh.2_Missense_Mutation_p.K45M|C9orf86_uc004cjj.1_Missense_Mutation_p.K45M|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.K45M|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_5'Flank	p.K45M	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	2	402	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	45			Small GTPase-like.		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.134A>T	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.33|14.33	2.502942|2.502942	0.44558|0.44558	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000436380|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842	.|T;T;T;T;T	.|0.75367	.|-0.93;-0.93;-0.93;-0.93;-0.93	4.21|4.21	4.21|4.21	0.49690|0.49690	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.87900|0.87900	0.6294|0.6294	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.89917	.|0.997;0.869;1.0;1.0;0.971	.|D;P;D;D;P	.|0.91635	.|0.985;0.892;0.999;0.999;0.804	D|D	0.90061|0.90061	0.4156|0.4156	5|10	.|0.87932	.|D	.|0	-25.4775|-25.4775	12.1097|12.1097	0.53831|0.53831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|45;45;45;45;45	.|A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.|.;.;.;PARF_HUMAN;.	D|M	1|45;45;45;45;45;7	.|ENSP00000360727:K45M;ENSP00000360736:K45M;ENSP00000311134:K45M;ENSP00000350056:K45M;ENSP00000414081:K7M	.|ENSP00000311134:K45M	E|K	+|+	3|2	2|0	C9orf86|C9orf86	138837801|138837801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.395000|0.395000	0.30598|0.30598	8.713000|8.713000	0.91408|0.91408	1.528000|1.528000	0.49103|0.49103	0.260000|0.260000	0.18958|0.18958	GAA|AAG		PASS	0.562	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		8	44	8	44	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139733427	139733427	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:139733427C>T	ENST00000311502.7	+	11	1583	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	RABL6_ENST00000432842.2_Silent_p.D411D|RABL6_ENST00000371663.4_Silent_p.D450D|RABL6_ENST00000371675.3_Silent_p.D334D|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	449					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D450D(1)|p.D527D(1)									ACCTCGAAGACCAGCCACGTG	0.637																																						uc004cji.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1345-1347)GAC>GAT		Rab-like GTP-binding protein 1 isoform 1							23.0	29.0	27.0					9																	139733427		2023	4182	6205	SO:0001819	synonymous_variant	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139733427C>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1347C>T	9.37:g.139733427C>T						C9orf86_uc004cjj.1_Silent_p.D450D|C9orf86_uc004cjk.1_Intron|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Silent_p.D334D|C9orf86_uc004cjn.1_Silent_p.D243D	p.D449D	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	11	1615	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	449					A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1347C>T	CCDS48058.1																																																																																				PASS	0.637	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		4	18	4	18	---	---	---	---
PHPT1	29085	broad.mit.edu	37	9	139748318	139748318	+	IGR	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:139748318G>C	ENST00000247665.10	+	0	890				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E182Q|MAMDC4_ENST00000445819.1_Missense_Mutation_p.E182Q	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)	p.E182Q(2)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCTGGCAGGAGTTGGCAGT	0.657																																						uc004cjs.2																			2	Substitution - Missense(2)		lung(2)	breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(544-546)GAG>CAG		apical early endosomal glycoprotein precursor							27.0	31.0	30.0					9																	139748318		2196	4299	6495	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748318G>C	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748318G>C						MAMDC4_uc011mej.1_5'UTR	p.E182Q	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	594	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	182			Extracellular (Potential).|MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.544G>C	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.93|12.93	2.086737|2.086737	0.36855|0.36855	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02216|.	4.39;4.39|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.107085|.	0.40818|.	N|.	0.001016|.	T|T	0.35653|0.35653	0.0939|0.0939	N|N	0.26042|0.26042	0.785|0.785	0.28274|0.28274	N|N	0.924266|0.924266	P|.	0.35745|.	0.518|.	B|.	0.43508|.	0.422|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.09338|.	T|.	0.73|.	-29.5232|-29.5232	11.8597|11.8597	0.52459|0.52459	0.0:0.2958:0.7042:0.0|0.0:0.2958:0.7042:0.0	.|.	182|.	Q6UXC1-2|.	.|.	Q|A	182|163	ENSP00000319388:E182Q;ENSP00000411339:E182Q|.	ENSP00000319388:E182Q|.	E|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138868139|138868139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.520000|0.520000	0.34377|0.34377	2.083000|2.083000	0.41615|0.41615	2.207000|2.207000	0.71202|0.71202	0.561000|0.561000	0.74099|0.74099	GAG|GGA		PASS	0.657	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		3	58	3	58	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140361888	140361888	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr9:140361888C>T	ENST00000277531.4	-	25	3031	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.E974K|PNPLA7_ENST00000371457.1_Missense_Mutation_p.E555K	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	949	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.E949K(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGCCGCACTCCGCCAAGGCC	0.652																																						uc004cnf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2845-2847)GAG>AAG		patatin-like phospholipase domain containing 7							93.0	77.0	82.0					9																	140361888		2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361888C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2845G>A	9.37:g.140361888C>T	ENSP00000277531:p.Glu949Lys					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.E215K|PNPLA7_uc004cne.1_Missense_Mutation_p.E215K|PNPLA7_uc011mfa.1_Missense_Mutation_p.E357K|PNPLA7_uc010ncj.1_Missense_Mutation_p.E974K	p.E949K	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	25	3182	-	all_cancers(76;0.126)		949			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2845G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144187	0.77888	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.41	5.41	0.78517	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.76002	2.32	0.80722	D	1	D;D;D;P	0.89917	0.997;1.0;0.999;0.95	D;D;D;P	0.91635	0.963;0.999;0.986;0.817	D	0.90677	0.4602	10	0.87932	D	0	-38.6304	18.1768	0.89764	0.0:1.0:0.0:0.0	.	357;974;949;215	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	K	555;357;949;974;949;940	ENSP00000360512:E555K;ENSP00000360501:E357K;ENSP00000277531:E949K;ENSP00000384610:E974K;ENSP00000400582:E940K	ENSP00000277531:E949K	E	-	1	0	PNPLA7	139481709	1.000000	0.71417	0.105000	0.21289	0.007000	0.05969	5.775000	0.68915	2.520000	0.84964	0.561000	0.74099	GAG		PASS	0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		15	66	15	66	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	930416	930416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:930416G>A	ENST00000316157.3	-	2	152	c.112C>T	c.(112-114)Cag>Tag	p.Q38*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	38					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.Q38*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAACTTGTCTGAGAAGTGGTT	0.328																																						uc001ifs.1																			2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(112-114)CAG>TAG		La ribonucleoprotein domain family, member 4B							92.0	89.0	90.0					10																	930416		2203	4300	6503	SO:0001587	stop_gained	23185						nucleotide binding|RNA binding	g.chr10:930416G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.112C>T	10.37:g.930416G>A	ENSP00000326128:p.Gln38*						p.Q38*	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			2	153	-			38					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	ENST00000316157.3	37	c.112C>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818974	0.90873	.	.	ENSG00000107929	ENST00000316157;ENST00000406525;ENST00000412411	.	.	.	4.12	3.21	0.36854	.	0.506301	0.20979	N	0.082241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.5599	10.1053	0.42530	0.0:0.2027:0.7973:0.0	.	.	.	.	X	38	.	ENSP00000326128:Q38X	Q	-	1	0	LARP4B	920416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.165000	0.42396	1.322000	0.45245	0.650000	0.86243	CAG		PASS	0.328	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		14	102	14	102	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100519	8100519	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:8100519C>A	ENST00000346208.3	+	3	948	c.493C>A	c.(493-495)Cca>Aca	p.P165T	GATA3_ENST00000379328.3_Missense_Mutation_p.P165T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	165					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P165T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTCCCCGGACCCATCGCTGTC	0.706			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - Missense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(493-495)CCA>ACA		GATA binding protein 3 isoform 2							40.0	44.0	43.0					10																	8100519		2202	4297	6499	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100519C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.493C>A	10.37:g.8100519C>A	ENSP00000341619:p.Pro165Thr					GATA3_uc001ijz.2_Missense_Mutation_p.P165T	p.P165T	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	1050	+			165					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.493C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351618	0.61183	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96427	-4.01;-3.98	5.55	5.55	0.83447	.	0.107026	0.64402	D	0.000003	D	0.96753	0.8940	M	0.73319	2.225	0.80722	D	1	B;P	0.41710	0.309;0.76	B;P	0.47299	0.039;0.543	D	0.96495	0.9367	10	0.48119	T	0.1	-15.7974	19.5043	0.95108	0.0:1.0:0.0:0.0	.	165;165	P23771;P23771-2	GATA3_HUMAN;.	T	165	ENSP00000368632:P165T;ENSP00000341619:P165T	ENSP00000341619:P165T	P	+	1	0	GATA3	8140525	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.984000	0.70548	2.607000	0.88179	0.561000	0.74099	CCA		PASS	0.706	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		83	27	83	27	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12148367	12148367	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:12148367G>T	ENST00000263035.4	+	11	2081	c.2019G>T	c.(2017-2019)caG>caT	p.Q673H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	673					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.Q673H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGGTGCCCAGATCATCTTTG	0.542																																						uc001ild.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2017-2019)CAG>CAT		dehydrogenase E1 and transketolase domain							221.0	195.0	204.0					10																	12148367		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148367G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2019G>T	10.37:g.12148367G>T	ENSP00000263035:p.Gln673His						p.Q673H	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2118	+		Renal(717;0.228)	673					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2019G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780775	0.70222	.	.	ENSG00000181192	ENST00000263035	D	0.94537	-3.45	6.01	5.11	0.69529	Transketolase-like, pyrimidine-binding domain (2);	0.158132	0.64402	D	0.000019	D	0.97034	0.9031	H	0.96691	3.865	0.80722	D	1	B	0.31054	0.306	B	0.41202	0.35	D	0.97031	0.9750	10	0.87932	D	0	-14.2955	13.4297	0.61049	0.0718:0.0:0.9282:0.0	.	673	Q96HY7	DHTK1_HUMAN	H	673	ENSP00000263035:Q673H	ENSP00000263035:Q673H	Q	+	3	2	DHTKD1	12188373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.949000	0.63596	1.570000	0.49709	0.638000	0.83543	CAG		PASS	0.542	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		8	325	8	325	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24813693	24813693	+	Splice_Site	SNP	G	G	A	rs200767034	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:24813693G>A	ENST00000376454.3	+	13	2928	c.2898G>A	c.(2896-2898)gaG>gaA	p.E966E	KIAA1217_ENST00000396446.1_Splice_Site_p.E649E|KIAA1217_ENST00000376451.2_Splice_Site_p.E649E|KIAA1217_ENST00000396445.1_Splice_Site_p.E649E|KIAA1217_ENST00000307544.6_Splice_Site_p.E649E|KIAA1217_ENST00000376462.1_Splice_Site_p.E886E|KIAA1217_ENST00000376452.3_Splice_Site_p.E931E|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_Splice_Site_p.E931E	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	966					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E966E(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGTCTATCGAGGTAGAGTCCT	0.448																																						uc001iru.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(2896-2898)GAG>GAA		sickle tail isoform 1							52.0	50.0	51.0					10																	24813693		2203	4300	6503	SO:0001630	splice_region_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813693G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2898+1G>A	10.37:g.24813693G>A						KIAA1217_uc001irs.2_Silent_p.E886E|KIAA1217_uc001irt.3_Silent_p.E931E|KIAA1217_uc010qcy.1_Silent_p.E931E|KIAA1217_uc010qcz.1_Silent_p.E931E|KIAA1217_uc001irv.1_Silent_p.E781E|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.E649E|KIAA1217_uc001irz.2_Silent_p.E649E|KIAA1217_uc001irx.2_Silent_p.E649E|KIAA1217_uc001iry.2_Silent_p.E649E	p.E966E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			13	3301	+			966			Potential.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2898G>A	CCDS31165.1																																																																																				PASS	0.448	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	Silent	40	18	40	18	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30602839	30602839	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:30602839G>A	ENST00000263063.4	-	9	1491	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S613F	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	483	PAP-associated.				cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.S613F(1)|p.S483F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATGTTGAGAGAAGTTTCAAA	0.368																																						uc001iva.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1447-1449)TCT>TTT		PAP associated domain containing 1 precursor							57.0	59.0	58.0					10																	30602839		2203	4299	6502	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602839G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1448C>T	10.37:g.30602839G>A	ENSP00000263063:p.Ser483Phe					MTPAP_uc001ivb.3_Missense_Mutation_p.S613F	p.S483F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			9	1511	-			483			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1448C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704522	0.68615	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.79033	-1.23;-1.23	5.76	4.86	0.63082	PAP/25A-associated (1);	0.391215	0.27270	N	0.020132	T	0.79137	0.4395	L	0.36672	1.1	0.31477	N	0.667627	D;D	0.71674	0.998;0.99	D;D	0.65443	0.935;0.917	T	0.79636	-0.1721	10	0.72032	D	0.01	-29.5713	6.5412	0.22380	0.0725:0.1214:0.666:0.1401	.	613;483	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	F	613;483	ENSP00000350820:S613F;ENSP00000263063:S483F	ENSP00000263063:S483F	S	-	2	0	MTPAP	30642845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.269000	0.58890	1.446000	0.47643	0.655000	0.94253	TCT		PASS	0.368	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		5	239	5	239	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30615386	30615386	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:30615386G>A	ENST00000263063.4	-	5	1002	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S450F	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	320					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.S450F(1)|p.S320F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTGAAATCCGGAGGCCTGGTG	0.423																																						uc001iva.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(958-960)TCC>TTC		PAP associated domain containing 1 precursor							84.0	91.0	88.0					10																	30615386		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30615386G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.959C>T	10.37:g.30615386G>A	ENSP00000263063:p.Ser320Phe					MTPAP_uc001ivb.3_Missense_Mutation_p.S450F	p.S320F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			5	1022	-			320					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.959C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104378	0.76983	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.47528	0.84;0.84	5.19	4.28	0.50868	.	0.217320	0.40908	D	0.000989	T	0.55242	0.1908	M	0.70842	2.15	0.49687	D	0.999812	D;P	0.53151	0.958;0.459	P;B	0.51487	0.671;0.358	T	0.56159	-0.8025	10	0.10377	T	0.69	-17.2831	16.1383	0.81506	0.0:0.1339:0.8661:0.0	.	450;320	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	F	450;320	ENSP00000350820:S450F;ENSP00000263063:S320F	ENSP00000263063:S320F	S	-	2	0	MTPAP	30655392	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.403000	0.97302	1.299000	0.44798	0.467000	0.42956	TCC		PASS	0.423	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		37	225	37	225	---	---	---	---
LYZL2	119180	broad.mit.edu	37	10	30918578	30918578	+	Silent	SNP	G	G	A	rs140215273	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:30918578G>A	ENST00000375318.2	-	1	113	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.S19S(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TTGAGTCTGCGGAAGAAACAC	0.517																																						uc001ivk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)TCC>TCT		lysozyme-like 2		G		0,4406		0,0,2203	80.0	72.0	75.0		57	-3.0	0.0	10	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LYZL2	NM_183058.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		19/195	30918578	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30918578G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.57C>T	10.37:g.30918578G>A							p.S19S	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			1	70	-		Prostate(175;0.151)	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.57C>T	CCDS7167.2																																																																																				PASS	0.517	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		70	30	70	30	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33103371	33103371	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:33103371G>C	ENST00000375028.3	+	10	982	c.912G>C	c.(910-912)aaG>aaC	p.K304N	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.K364N			Q9H943	CJ068_HUMAN		328								p.K328N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CACGATCAAAGAGTCTCCCTG	0.343																																						uc001iwn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(982-984)AAG>AAC		chromosome 10 open reading frame 68							140.0	156.0	151.0					10																	33103371		2203	4300	6503	SO:0001583	missense	79741							g.chr10:33103371G>C																												ENST00000375028.3:c.912G>C	10.37:g.33103371G>C	ENSP00000364168:p.Lys304Asn					C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.K304N|C10orf68_uc010qei.1_Missense_Mutation_p.K276N|C10orf68_uc001iwo.3_RNA	p.K328N	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			12	1457	+			328					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375028.3	37	c.984G>C		.	.	.	.	.	.	.	.	.	.	.	10.41	1.341248	0.24339	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.31510	1.51;1.5;1.49	2.56	1.27	0.21489	.	.	.	.	.	T	0.36853	0.0982	L	0.41824	1.3	0.09310	N	1	D;D;D	0.65815	0.995;0.995;0.991	P;D;P	0.63877	0.882;0.919;0.833	T	0.12344	-1.0551	9	0.41790	T	0.15	.	4.6846	0.12752	0.25:0.0:0.75:0.0	.	281;328;304	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	N	328;304;364;276	ENSP00000303710:K328N;ENSP00000364168:K304N;ENSP00000364165:K364N	ENSP00000303710:K328N	K	+	3	2	C10orf68	33143377	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.074000	0.14662	0.361000	0.24292	0.561000	0.74099	AAG		PASS	0.343	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			33	233	33	233	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43650712	43650712	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:43650712G>C	ENST00000374466.3	+	2	450	c.115G>C	c.(115-117)Gat>Cat	p.D39H	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.D39H	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.D39H(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCCAGACTGATGGAAATGC	0.468																																						uc001jan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GAT>CAT		chondroitin sulfate							103.0	91.0	95.0					10																	43650712		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650712G>C	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.115G>C	10.37:g.43650712G>C	ENSP00000363590:p.Asp39His					CSGALNACT2_uc001jam.1_Missense_Mutation_p.D39H	p.D39H	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	450	+			39			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.115G>C	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297138	0.81025	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.27890	1.68;1.64	5.86	5.86	0.93980	.	0.179222	0.56097	D	0.000023	T	0.55940	0.1952	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.66351	0.879;0.943	T	0.55566	-0.8121	10	0.87932	D	0	-28.835	20.1986	0.98248	0.0:0.0:1.0:0.0	.	39;39	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	H	39	ENSP00000363590:D39H;ENSP00000363588:D39H	ENSP00000363588:D39H	D	+	1	0	CSGALNACT2	42970718	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.594000	0.82698	2.781000	0.95711	0.650000	0.86243	GAT		PASS	0.468	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		21	160	21	160	---	---	---	---
RASGEF1A	221002	broad.mit.edu	37	10	43694588	43694588	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:43694588G>A	ENST00000395809.1	-	8	3410	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R302W|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R310W			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	302	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R302W(1)|p.R249W(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGCACTCCCGGGCCACATCA	0.617																																						uc001jap.1																			2	Substitution - Missense(2)		lung(2)		0						c.(904-906)CGG>TGG		RasGEF domain family, member 1A							72.0	60.0	64.0					10																	43694588		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43694588G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.904C>T	10.37:g.43694588G>A	ENSP00000379154:p.Arg302Trp					RASGEF1A_uc001jao.1_Missense_Mutation_p.R310W	p.R302W	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			8	985	-			302			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.904C>T	CCDS7202.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255899|4.255899	0.80135|0.80135	.|.	.|.	ENSG00000198915|ENSG00000198915	ENST00000374455|ENST00000374459;ENST00000395810;ENST00000395809	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	5.26|5.26	4.28|4.28	0.50868|0.50868	.|Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51958|0.51958	0.1705|0.1705	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.69078	.|0.995;0.997	.|P;P	.|0.61722	.|0.893;0.828	T|T	0.57112|0.57112	-0.7867|-0.7867	5|10	.|0.87932	.|D	.|0	.|.	10.8408|10.8408	0.46715|0.46715	0.0:0.0:0.3912:0.6088|0.0:0.0:0.3912:0.6088	.|.	.|302;310	.|Q8N9B8;Q8N9B8-2	.|RGF1A_HUMAN;.	L|W	203|310;302;302	.|ENSP00000363583:R310W;ENSP00000379155:R302W;ENSP00000379154:R302W	.|ENSP00000363583:R310W	P|R	-|-	2|1	0|2	RASGEF1A|RASGEF1A	43014594|43014594	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	2.502000|2.502000	0.45398|0.45398	1.107000|1.107000	0.41642|0.41642	0.655000|0.655000	0.94253|0.94253	CCG|CGG		PASS	0.617	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		42	10	42	10	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61112201	61112201	+	Silent	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:61112201T>A	ENST00000373868.2	-	3	240	c.153A>T	c.(151-153)gcA>gcT	p.A51A	FAM13C_ENST00000277705.6_Silent_p.A51A|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000435852.2_Silent_p.A51A|FAM13C_ENST00000442566.3_Silent_p.A51A|FAM13C_ENST00000422313.2_Silent_p.A51A|FAM13C_ENST00000419214.2_Silent_p.A51A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	51								p.A51A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCAGAGCCCCTGCGTCGGGGT	0.502																																						uc001jkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(151-153)GCA>GCT		hypothetical protein LOC220965 isoform 1							27.0	31.0	30.0					10																	61112201		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61112201T>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.153A>T	10.37:g.61112201T>A						FAM13C_uc001jko.2_Silent_p.A51A|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.A73A|FAM13C_uc001jkp.2_5'UTR	p.A51A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			4	287	-			51					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.153A>T	CCDS7255.1																																																																																				PASS	0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			4	26	4	26	---	---	---	---
ANK3	288	broad.mit.edu	37	10	62023652	62023652	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:62023652C>T	ENST00000280772.2	-	6	831	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ANK3_ENST00000503366.1_Missense_Mutation_p.D197N|ANK3_ENST00000373827.2_Missense_Mutation_p.D208N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	214					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D214N(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTTCGTGTCGTCTTTTCGG	0.547																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(640-642)GAC>AAC		ankyrin 3 isoform 1							110.0	94.0	100.0					10																	62023652		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62023652C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.640G>A	10.37:g.62023652C>T	ENSP00000280772:p.Asp214Asn					ANK3_uc010qih.1_Missense_Mutation_p.D197N|ANK3_uc001jkz.3_Missense_Mutation_p.D208N|ANK3_uc001jlb.1_5'UTR	p.D214N	NM_020987	NP_066267	Q12955	ANK3_HUMAN			6	832	-			214			ANK 5.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.640G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221692	0.95139	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.63580	0.77;0.77;2.44;-0.05	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.000000	0.41823	D	0.000818	T	0.67449	0.2894	N	0.13299	0.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.976;0.999	T	0.73620	-0.3925	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	197;208;214	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	N	214;208;197;176;188	ENSP00000280772:D214N;ENSP00000362933:D208N;ENSP00000425236:D197N;ENSP00000426011:D188N	ENSP00000280772:D214N	D	-	1	0	ANK3	61693658	1.000000	0.71417	0.996000	0.52242	0.692000	0.40212	7.625000	0.83145	2.710000	0.92621	0.655000	0.94253	GAC		PASS	0.547	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		17	47	17	47	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63759929	63759929	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:63759929C>G	ENST00000279873.7	+	4	992	c.582C>G	c.(580-582)atC>atG	p.I194M		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	194					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.I194M(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGAAACGCATCCAGGATAAGC	0.537																																						uc001jlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(580-582)ATC>ATG		AT rich interactive domain 5B (MRF1-like)							115.0	99.0	104.0					10																	63759929		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63759929C>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.582C>G	10.37:g.63759929C>G	ENSP00000279873:p.Ile194Met					ARID5B_uc010qil.1_Missense_Mutation_p.I194M	p.I194M	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			4	608	+	Prostate(12;0.016)|all_hematologic(501;0.215)		194					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.582C>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464723	0.63513	.	.	ENSG00000150347	ENST00000279873	T	0.53857	0.6	5.75	3.69	0.42338	.	0.057911	0.64402	D	0.000001	T	0.59142	0.2172	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.97;0.998	P;D	0.65987	0.839;0.94	T	0.61053	-0.7140	10	0.87932	D	0	-15.546	6.5423	0.22387	0.0:0.6453:0.0:0.3547	.	194;194	Q14865-3;Q14865	.;ARI5B_HUMAN	M	194	ENSP00000279873:I194M	ENSP00000279873:I194M	I	+	3	3	ARID5B	63429935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.828000	0.27435	1.440000	0.47531	0.561000	0.74099	ATC		PASS	0.537	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		21	50	21	50	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68040264	68040264	+	Silent	SNP	T	T	C	rs182490263		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:68040264T>C	ENST00000433211.2	-	13	2022	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	CTNNA3_ENST00000373744.4_Silent_p.T616T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T616T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCATGAATTGTATCATAGA	0.368																																						uc009xpn.1																			2	Substitution - coding silent(2)	p.T616P(1)	lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1846-1848)ACA>ACG		catenin, alpha 3							172.0	166.0	168.0					10																	68040264		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040264T>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1848A>G	10.37:g.68040264T>C						CTNNA3_uc001jmw.2_Silent_p.T616T	p.T616T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			13	1971	-			616						Silent	SNP	ENST00000433211.2	37	c.1848A>G	CCDS7269.1																																																																																				PASS	0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		30	76	30	76	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686899	68686899	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:68686899A>C	ENST00000361320.4	+	2	803	c.225A>C	c.(223-225)aaA>aaC	p.K75N	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	75					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.K75N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCTTCAAAAACTTAAGTATA	0.373																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(223-225)AAA>AAC		leucine rich repeat transmembrane neuronal 3							98.0	104.0	102.0					10																	68686899		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686899A>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.225A>C	10.37:g.68686899A>C	ENSP00000355187:p.Lys75Asn					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.K75N	p.K75N	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	775	+			75			Extracellular (Potential).|LRR 1.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.225A>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	4.201	0.036037	0.08148	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57752	0.38	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.31544	0.0800	N	0.13235	0.315	0.40639	D	0.98192	B;B	0.12013	0.005;0.004	B;B	0.18263	0.021;0.012	T	0.18587	-1.0332	10	0.10377	T	0.69	.	9.7967	0.40740	0.8463:0.0:0.0:0.1537	.	75;75	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	N	75	ENSP00000355187:K75N	ENSP00000355187:K75N	K	+	3	2	LRRTM3	68356905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.887000	0.56197	2.064000	0.61679	0.533000	0.62120	AAA		PASS	0.373	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		38	110	38	110	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72614558	72614558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:72614558C>T	ENST00000373202.3	+	5	555	c.355C>T	c.(355-357)Cag>Tag	p.Q119*		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	119					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.Q119*(1)		large_intestine(4)	4						TTTACCCTCCCAGGGTCTGAG	0.413																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(355-357)CAG>TAG		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						234.0	223.0	227.0					10																	72614558		2203	4300	6503	SO:0001587	stop_gained	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72614558C>T	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.355C>T	10.37:g.72614558C>T	ENSP00000362298:p.Gln119*						p.Q119*	NM_003901	NP_003892	O95470	SGPL1_HUMAN			5	577	+			119			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Nonsense_Mutation	SNP	ENST00000373202.3	37	c.355C>T	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531425	0.85706	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	.	.	.	5.29	4.35	0.52113	.	0.350692	0.33772	N	0.004573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.455	8.0617	0.30638	0.167:0.6509:0.1821:0.0	.	.	.	.	X	119;102	.	ENSP00000299297:Q102X	Q	+	1	0	SGPL1	72284564	0.895000	0.30542	0.979000	0.43373	0.816000	0.46133	1.735000	0.38176	2.756000	0.94617	0.561000	0.74099	CAG		PASS	0.413	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		70	172	70	172	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73053268	73053268	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:73053268G>A	ENST00000335350.6	+	12	2295	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	UNC5B_ENST00000373192.4_Missense_Mutation_p.E616K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	627	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.E627K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACTGTGCCGAAGTCAGTGC	0.637																																						uc001jro.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1879-1881)GAA>AAA		unc-5 homolog B precursor							103.0	100.0	101.0					10																	73053268		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053268G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1879G>A	10.37:g.73053268G>A	ENSP00000334329:p.Glu627Lys					UNC5B_uc001jrp.2_Missense_Mutation_p.E616K	p.E627K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			12	2324	+			627			Cytoplasmic (Potential).|ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1879G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935506	0.34189	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.43688	0.94;0.94	4.9	1.8	0.24995	ZU5 (3);	0.366119	0.28665	N	0.014553	T	0.28400	0.0702	L	0.38175	1.15	0.30187	N	0.79985	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14952	-1.0454	10	0.44086	T	0.13	-4.3787	6.4005	0.21636	0.0729:0.1305:0.6615:0.1351	.	616;627	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	627;616	ENSP00000334329:E627K;ENSP00000362288:E616K	ENSP00000334329:E627K	E	+	1	0	UNC5B	72723274	1.000000	0.71417	0.864000	0.33941	0.320000	0.28249	3.567000	0.53813	0.480000	0.27534	-0.362000	0.07510	GAA		PASS	0.637	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		41	98	41	98	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73544071	73544071	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:73544071G>A	ENST00000224721.6	+	41	5416	c.5411G>A	c.(5410-5412)gGg>gAg	p.G1804E		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1799	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs3802711). {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:24767429}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.G1804E(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGTGGAGGGGGTGCTAAGG	0.622																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(5395-5397)GGG>GAG		cadherin-like 23 isoform 1 precursor							67.0	74.0	72.0					10																	73544071		1980	4153	6133	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544071G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5411G>A	10.37:g.73544071G>A	ENSP00000224721:p.Gly1804Glu						p.G1799E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			40	5773	+			1799			Cadherin 17.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5396G>A		.	.	.	.	.	.	.	.	.	.	g	33	5.239085	0.95240	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	H	0.95043	3.615	0.80722	D	1	P	0.45986	0.87	P	0.56648	0.803	D	0.89802	0.3976	9	0.87932	D	0	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	1799	Q9H251	CAD23_HUMAN	E	1804;1799;1802	.	ENSP00000224721:G1804E	G	+	2	0	CDH23	73214077	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	9.824000	0.99380	2.556000	0.86216	0.450000	0.29827	GGG		PASS	0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		22	43	22	43	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78880778	78880778	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:78880778C>T	ENST00000286628.8	-	6	836	c.837G>A	c.(835-837)ctG>ctA	p.L279L	KCNMA1_ENST00000406533.3_Silent_p.L279L|KCNMA1_ENST00000372440.1_Silent_p.L279L|KCNMA1_ENST00000404771.3_Silent_p.L279L|KCNMA1_ENST00000404857.1_Silent_p.L279L|KCNMA1_ENST00000354353.5_Silent_p.L279L|KCNMA1_ENST00000372443.1_Silent_p.L279L|KCNMA1_ENST00000286627.5_Silent_p.L279L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	279					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L279L(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAAACTGTATCAGTCTCAGAG	0.328																																						uc001jxn.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(835-837)CTG>CTA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						39.0	43.0	42.0					10																	78880778		2200	4297	6497	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78880778C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.837G>A	10.37:g.78880778C>T						KCNMA1_uc001jxj.2_Silent_p.L279L|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Silent_p.L99L|KCNMA1_uc001jxo.2_Silent_p.L279L|KCNMA1_uc001jxm.2_Silent_p.L279L|KCNMA1_uc001jxq.2_Silent_p.L279L	p.L279L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		6	1014	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		279			Helical; Name=Segment S4; (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.837G>A		.	.	.	.	.	.	.	.	.	.	C	9.550	1.115693	0.20795	.	.	ENSG00000156113	ENST00000372421	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77018	0.4069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73701	-0.3900	4	.	.	.	-8.8227	20.1743	0.98175	0.0:1.0:0.0:0.0	.	.	.	.	N	268	.	.	D	-	1	0	KCNMA1	78550784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.780000	0.62382	2.873000	0.98535	0.561000	0.74099	GAT		PASS	0.328	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		11	46	11	46	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93252127	93252127	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:93252127G>T	ENST00000298068.5	+	13	1412	c.1318G>T	c.(1318-1320)Gat>Tat	p.D440Y	HECTD2_ENST00000371667.1_Missense_Mutation_p.D90Y|HECTD2_ENST00000446394.1_Missense_Mutation_p.D444Y|HECTD2_ENST00000536715.1_Missense_Mutation_p.D29Y	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	440	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D440Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAAAGAGCCGATTTGAAAAA	0.343																																					NSCLC(12;376 469 1699 39910 41417)	uc001khl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1318-1320)GAT>TAT		HECT domain containing 2 isoform a							91.0	96.0	94.0					10																	93252127		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93252127G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1318G>T	10.37:g.93252127G>T	ENSP00000298068:p.Asp440Tyr					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.D444Y|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.D29Y|HECTD2_uc001khn.1_Missense_Mutation_p.D90Y	p.D440Y	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			13	1418	+			440			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.1318G>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582228	0.86748	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.45	5.45	0.79879	HECT (3);	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.75020	0.769;0.985	D	0.92076	0.5668	10	0.87932	D	0	.	19.2728	0.94018	0.0:0.0:1.0:0.0	.	444;440	E7ERR3;Q5U5R9	.;HECD2_HUMAN	Y	444;440;29;90	ENSP00000401023:D444Y;ENSP00000298068:D440Y;ENSP00000439687:D29Y;ENSP00000360731:D90Y	ENSP00000298068:D440Y	D	+	1	0	HECTD2	93242107	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.721000	0.91446	2.554000	0.86153	0.563000	0.77884	GAT		PASS	0.343	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			41	78	41	78	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98744488	98744488	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:98744488A>T	ENST00000286067.2	+	1	3448	c.3341A>T	c.(3340-3342)cAt>cTt	p.H1114L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1114								p.H1114L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAGAAAAGCATGCTGATGGA	0.507																																						uc001kmv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3340-3342)CAT>CTT		hypothetical protein LOC26148							55.0	59.0	57.0					10																	98744488		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744488A>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3341A>T	10.37:g.98744488A>T	ENSP00000286067:p.His1114Leu						p.H1114L	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3448	+		Colorectal(252;0.172)	1114					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3341A>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.379	0.837082	0.16891	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07908	3.15	4.98	-0.253	0.12996	.	0.911235	0.08987	N	0.865007	T	0.04770	0.0129	L	0.27053	0.805	0.20821	N	0.999846	B	0.14438	0.01	B	0.11329	0.006	T	0.47341	-0.9125	10	0.17369	T	0.5	-1.8263	2.062	0.03594	0.5888:0.1352:0.1462:0.1298	.	1114	Q8N655	CJ012_HUMAN	L	1114;948	ENSP00000286067:H1114L	ENSP00000286067:H1114L	H	+	2	0	C10orf12	98734478	0.556000	0.26538	0.195000	0.23364	0.574000	0.36063	1.684000	0.37649	-0.057000	0.13199	0.459000	0.35465	CAT		PASS	0.507	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		16	44	16	44	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98778804	98778804	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:98778804T>C	ENST00000266058.4	-	27	3052	c.2807A>G	c.(2806-2808)aAc>aGc	p.N936S	SLIT1_ENST00000371070.4_Missense_Mutation_p.N936S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	936	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.N936S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGCCCTGGTTCTGGCACGG	0.657																																						uc001kmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2806-2808)AAC>AGC		slit homolog 1 precursor							45.0	40.0	42.0					10																	98778804		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98778804T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2807A>G	10.37:g.98778804T>C	ENSP00000266058:p.Asn936Ser						p.N936S	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	27	3059	-		Colorectal(252;0.162)	936			EGF-like 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.2807A>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619377	0.66787	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.94828	-3.53;-3.53	5.54	5.54	0.83059	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.047738	0.85682	D	0.000000	D	0.94699	0.8290	M	0.85630	2.765	0.80722	D	1	B	0.21606	0.058	B	0.21151	0.033	D	0.93101	0.6508	10	0.87932	D	0	.	15.3393	0.74284	0.0:0.0:0.0:1.0	.	936	O75093	SLIT1_HUMAN	S	936	ENSP00000266058:N936S;ENSP00000360109:N936S	ENSP00000266058:N936S	N	-	2	0	SLIT1	98768794	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.996000	0.88334	2.113000	0.64589	0.379000	0.24179	AAC		PASS	0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	18	5	18	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100503730	100503730	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:100503730G>A	ENST00000370552.3	-	4	753	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	HPSE2_ENST00000370546.1_Missense_Mutation_p.P232S|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	232					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.P232S(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAGTTATTGGGATTACGACGC	0.448																																						uc001kpn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(694-696)CCC>TCC		heparanase 2							125.0	119.0	121.0					10																	100503730		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100503730G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.694C>T	10.37:g.100503730G>A	ENSP00000359583:p.Pro232Ser					HPSE2_uc009xwc.1_Missense_Mutation_p.P222S|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	p.P232S	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	4	754	-			232					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.694C>T	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783001	0.31593	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.30714	1.52;1.52	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.060881	0.64402	D	0.000003	T	0.19046	0.0457	N	0.19112	0.55	0.80722	D	1	B;B	0.21753	0.06;0.041	B;B	0.24541	0.032;0.054	T	0.05699	-1.0869	10	0.07482	T	0.82	-12.4423	13.3815	0.60770	0.0722:0.0:0.9278:0.0	.	232;232	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	S	232	ENSP00000359583:P232S;ENSP00000359577:P232S	ENSP00000359577:P232S	P	-	1	0	HPSE2	100493720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.303000	0.72794	2.838000	0.97847	0.591000	0.81541	CCC		PASS	0.448	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		29	98	29	98	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101578643	101578643	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:101578643G>T	ENST00000370449.4	+	18	2481	c.2368G>T	c.(2368-2370)Gca>Tca	p.A790S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	790	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.A790S(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCCCTGTCTGCAGTGGATGC	0.443																																						uc001kqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2368-2370)GCA>TCA		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						70.0	75.0	73.0					10																	101578643		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101578643G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2368G>T	10.37:g.101578643G>T	ENSP00000359478:p.Ala790Ser						p.A790S	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	18	2507	+		Colorectal(252;0.234)	790			Cytoplasmic (By similarity).|ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.2368G>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033666	0.75504	.	.	ENSG00000023839	ENST00000370449	D	0.91011	-2.77	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93454	0.6804	10	0.87932	D	0	-14.6384	19.6529	0.95825	0.0:0.0:1.0:0.0	.	790	Q92887	MRP2_HUMAN	S	790	ENSP00000359478:A790S	ENSP00000359478:A790S	A	+	1	0	ABCC2	101568633	1.000000	0.71417	0.492000	0.27490	0.238000	0.25445	9.866000	0.99616	2.890000	0.99128	0.655000	0.94253	GCA		PASS	0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		25	41	25	41	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101835789	101835789	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:101835789G>A	ENST00000370418.3	-	2	550	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	100	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CAGAAACTCCGACAGCTGCAG	0.587																																						uc001kql.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|pancreas(1)	4						c.(298-300)TCG>TTG		carboxypeptidase N, polypeptide 1 precursor							134.0	111.0	119.0					10																	101835789		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835789G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.299C>T	10.37:g.101835789G>A	ENSP00000359446:p.Ser100Leu						p.S100L	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	559	-		Colorectal(252;0.234)	100			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.299C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	6.640	0.486496	0.12641	.	.	ENSG00000120054	ENST00000370418	T	0.06849	3.25	5.59	2.5	0.30297	Peptidase M14, carboxypeptidase A (2);	0.330889	0.36703	N	0.002454	T	0.04452	0.0122	N	0.11106	0.095	0.18873	N	0.999984	P	0.40970	0.734	B	0.36922	0.236	T	0.41378	-0.9512	10	0.26408	T	0.33	-40.1181	12.5946	0.56461	0.0665:0.2357:0.6978:0.0	.	100	P15169	CBPN_HUMAN	L	100	ENSP00000359446:S100L	ENSP00000359446:S100L	S	-	2	0	CPN1	101825779	0.999000	0.42202	0.460000	0.27093	0.003000	0.03518	3.886000	0.56190	0.734000	0.32515	-0.886000	0.02939	TCG		PASS	0.587	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		24	68	24	68	---	---	---	---
CHUK	1147	broad.mit.edu	37	10	101964284	101964284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:101964284C>A	ENST00000370397.7	-	13	1572	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	496					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.E496*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTCATCTGCTCGCTGTATCTC	0.383																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(1486-1488)GAG>TAG		conserved helix-loop-helix ubiquitous kinase							153.0	135.0	141.0					10																	101964284		2203	4300	6503	SO:0001587	stop_gained	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101964284C>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1486G>T	10.37:g.101964284C>A	ENSP00000359424:p.Glu496*						p.E496*	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	13	1541	-		Colorectal(252;0.117)	496					O14666|Q13132|Q5W0I4|Q92467	Nonsense_Mutation	SNP	ENST00000370397.7	37	c.1486G>T	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	37	6.082200	0.97267	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.7	5.7	0.88788	.	0.048468	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-16.5899	17.3232	0.87241	0.0:1.0:0.0:0.0	.	.	.	.	X	496	.	ENSP00000359424:E496X	E	-	1	0	CHUK	101954274	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	3.796000	0.55507	2.684000	0.91462	0.650000	0.86243	GAG		PASS	0.383	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		39	101	39	101	---	---	---	---
FGF8	2253	broad.mit.edu	37	10	103531278	103531278	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:103531278C>T	ENST00000344255.3	-	5	352	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	FGF8_ENST00000320185.2_Missense_Mutation_p.R129Q|FGF8_ENST00000347978.2_Missense_Mutation_p.R100Q|FGF8_ENST00000346714.3_Missense_Mutation_p.R89Q|FGF8_ENST00000485728.1_5'UTR			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	118					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.R129Q(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTCGGCTCCTCGGACTCGAAC	0.602																																						uc001ktp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CGA>CAA		fibroblast growth factor 8 isoform E precursor							117.0	97.0	103.0					10																	103531278		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103531278C>T	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.353G>A	10.37:g.103531278C>T	ENSP00000340039:p.Arg118Gln					FGF8_uc001ktq.1_Missense_Mutation_p.R129Q|FGF8_uc001ktr.1_Missense_Mutation_p.R100Q|FGF8_uc001kts.1_Missense_Mutation_p.R89Q|FGF8_uc009xwr.1_Missense_Mutation_p.R25Q	p.R118Q	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	523	-		Colorectal(252;0.122)	118					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.353G>A	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.987919	0.35036	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.69	4.69	0.59074	.	0.059730	0.64402	D	0.000005	T	0.77705	0.4170	L	0.41573	1.285	0.40895	D	0.984109	B;B;B;D	0.60575	0.209;0.209;0.346;0.988	B;B;B;P	0.47705	0.018;0.027;0.018;0.555	T	0.79569	-0.1749	10	0.72032	D	0.01	-3.8441	6.1078	0.20084	0.0:0.7574:0.0:0.2426	.	89;100;129;118	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	Q	118;129;89;100	ENSP00000340039:R118Q;ENSP00000321797:R129Q;ENSP00000344306:R89Q;ENSP00000321945:R100Q	ENSP00000321797:R129Q	R	-	2	0	FGF8	103521268	1.000000	0.71417	0.904000	0.35570	0.148000	0.21650	4.088000	0.57678	2.171000	0.68590	0.556000	0.70494	CGA		PASS	0.602	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		20	48	20	48	---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103550821	103550821	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:103550821G>A	ENST00000361464.3	-	14	2681	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	MGEA5_ENST00000357797.5_Silent_p.L695L|MGEA5_ENST00000439817.1_Silent_p.L709L|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	762					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.L762L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AATCCAGGCTGAGGGAAAGCA	0.418																																						uc001ktv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2284-2286)CTC>CTT		meningioma expressed antigen 5 (hyaluronidase)							73.0	72.0	73.0					10																	103550821		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103550821G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2286C>T	10.37:g.103550821G>A						MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Silent_p.L709L|MGEA5_uc009xws.2_Silent_p.L695L	p.L762L	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	14	2729	-		Colorectal(252;0.207)	762			Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.2286C>T	CCDS7520.1																																																																																				PASS	0.418	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		27	61	27	61	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104140380	104140380	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:104140380G>A	ENST00000369983.3	+	38	5367	c.5107G>A	c.(5107-5109)Gaa>Aaa	p.E1703K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1703					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1703K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATCACCTGGGAACGCATTGA	0.552																																						uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5107-5109)GAA>AAA		golgi-specific brefeldin A resistant guanine							256.0	280.0	272.0					10																	104140380		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140380G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5107G>A	10.37:g.104140380G>A	ENSP00000359000:p.Glu1703Lys					GBF1_uc001kuy.1_Missense_Mutation_p.E1699K|GBF1_uc001kuz.1_Missense_Mutation_p.E1700K	p.E1703K	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5347	+		Colorectal(252;0.0236)	1703					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5107G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217421	0.95104	.	.	ENSG00000107862	ENST00000369983	T	0.09445	2.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.60455	1.87	0.80722	D	1	P;P;D	0.63880	0.861;0.74;0.993	B;B;D	0.70935	0.391;0.214;0.971	T	0.02358	-1.1171	10	0.09590	T	0.72	-18.8391	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1699;1699;1703	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	1703	ENSP00000359000:E1703K	ENSP00000359000:E1703K	E	+	1	0	GBF1	104130370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	GAA		PASS	0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			11	542	11	542	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107005329	107005329	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:107005329C>A	ENST00000369701.3	+	21	3125	c.2898C>A	c.(2896-2898)tcC>tcA	p.S966S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	966					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.S966S(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)		GCAGCATTTCCTTCACATTCC	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2896-2898)TCC>TCA		VPS10 domain receptor protein SORCS 3 precursor							231.0	189.0	203.0					10																	107005329		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107005329C>A	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.2898C>A	10.37:g.107005329C>A						SORCS3_uc010qqz.1_RNA	p.S966S	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)	21	3125	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	966			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2898C>A	CCDS7558.1																																																																																				PASS	0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		44	117	44	117	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107006977	107006977	+	Splice_Site	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:107006977A>G	ENST00000369701.3	+	22	3220	c.2993A>G	c.(2992-2994)gAa>gGa	p.E998G	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	998					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.E998G(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)		CTCCCTGCAGAATATTTCCAG	0.453																																					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.(2992-2994)GAA>GGA		VPS10 domain receptor protein SORCS 3 precursor							92.0	83.0	86.0					10																	107006977		2203	4300	6503	SO:0001630	splice_region_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107006977A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2993-1A>G	10.37:g.107006977A>G						SORCS3_uc010qqz.1_RNA	p.E998G	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)	22	3220	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	998			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2993A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163431	0.57476	.	.	ENSG00000156395	ENST00000369701	T	0.17370	2.28	5.5	5.5	0.81552	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.61036	1.89	0.58432	D	0.999997	B	0.24426	0.103	B	0.24006	0.05	T	0.02498	-1.1150	9	.	.	.	.	15.8827	0.79216	1.0:0.0:0.0:0.0	.	998	Q9UPU3	SORC3_HUMAN	G	998	ENSP00000358715:E998G	.	E	+	2	0	SORCS3	106996967	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.882000	0.75589	2.211000	0.71520	0.528000	0.53228	GAA		PASS	0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Missense_Mutation	10	36	10	36	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115374675	115374675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:115374675G>A	ENST00000359988.3	-	28	3353	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*	NRAP_ENST00000360478.3_Nonsense_Mutation_p.R1002*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.R1010*|NRAP_ENST00000369358.4_Nonsense_Mutation_p.R1045*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.R1037*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCACCATCTCGAAGTTTGCTC	0.468																																						uc001laj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3109-3111)CGA>TGA		nebulin-related anchoring protein isoform S							182.0	161.0	168.0					10																	115374675		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115374675G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3109C>T	10.37:g.115374675G>A	ENSP00000353078:p.Arg1037*					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.R1002*|NRAP_uc001lal.3_Nonsense_Mutation_p.R1037*	p.R1037*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	28	3273	-		Colorectal(252;0.0233)|Breast(234;0.188)	1037			Nebulin 26.			Nonsense_Mutation	SNP	ENST00000359988.3	37	c.3109C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	41	8.684929	0.98914	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	5.36	4.38	0.52667	.	0.112978	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8082	0.46531	0.0:0.0:0.5749:0.4251	.	.	.	.	X	1045;1010;1037;1002	.	ENSP00000353078:R1037X	R	-	1	2	NRAP	115364665	0.996000	0.38824	1.000000	0.80357	0.593000	0.36681	2.662000	0.46766	2.507000	0.84556	0.655000	0.94253	CGA		PASS	0.468	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		24	72	24	72	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117075194	117075194	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:117075194C>A	ENST00000355044.3	+	18	3111	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Silent_p.T92T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	995	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T995T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCTTGACACCAATCTTTGCC	0.408																																						uc001lcg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2983-2985)ACC>ACA		attractin-like 1 precursor							117.0	110.0	112.0					10																	117075194		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117075194C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2985C>A	10.37:g.117075194C>A						ATRNL1_uc010qsm.1_Silent_p.T170T|ATRNL1_uc010qsn.1_RNA	p.T995T	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	18	3371	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	995			PSI 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2985C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	7.604	0.673459	0.14776	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.34	-1.47	0.08772	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.41632	D	0.989022	.	.	.	.	.	.	T	0.32771	-0.9894	4	.	.	.	-8.9131	4.2368	0.10630	0.0994:0.4852:0.0905:0.3248	.	.	.	.	K	125	.	.	Q	+	1	0	ATRNL1	117065184	0.000000	0.05858	0.991000	0.47740	0.978000	0.69477	-0.523000	0.06230	0.010000	0.14839	-0.391000	0.06502	CAA		PASS	0.408	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		31	83	31	83	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118318783	118318783	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:118318783A>T	ENST00000369221.2	+	10	1076	c.1048A>T	c.(1048-1050)Agt>Tgt	p.S350C		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	350					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.S350C(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)	TGGTGATGCCAGTAATTTTGC	0.363																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1048-1050)AGT>TGT		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						107.0	104.0	105.0					10																	118318783		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.chr10:118318783A>T	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.1048A>T	10.37:g.118318783A>T	ENSP00000358223:p.Ser350Cys						p.S350C	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	1091	+			350					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1048A>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560470	0.27827	.	.	ENSG00000175535	ENST00000369221	D	0.92149	-2.98	6.16	2.59	0.31030	Lipase, N-terminal (1);	0.316889	0.31747	N	0.007128	D	0.93605	0.7958	M	0.91038	3.17	0.09310	N	1	D	0.53745	0.962	P	0.51945	0.685	D	0.87290	0.2298	10	0.56958	D	0.05	.	2.5576	0.04764	0.6146:0.1271:0.1362:0.1221	.	350	P16233	LIPP_HUMAN	C	350	ENSP00000358223:S350C	ENSP00000358223:S350C	S	+	1	0	PNLIP	118308773	0.030000	0.19436	0.397000	0.26308	0.990000	0.78478	1.623000	0.37008	0.200000	0.20447	0.528000	0.53228	AGT		PASS	0.363	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		22	55	22	55	---	---	---	---
PRLHR	2834	broad.mit.edu	37	10	120353838	120353838	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:120353838C>G	ENST00000369169.1	-	1	918	c.919G>C	c.(919-921)Gcc>Ccc	p.A307P	PRLHR_ENST00000239032.2_Missense_Mutation_p.A307P			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	307					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)	p.A307P(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGGTCGATGGCGTGGGGGTCG	0.647																																						uc001ldp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)GCC>CCC		G protein-coupled receptor 10							45.0	45.0	45.0					10																	120353838		2203	4300	6503	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353838C>G	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.919G>C	10.37:g.120353838C>G	ENSP00000358167:p.Ala307Pro						p.A307P	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1058	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	307			Extracellular (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.919G>C	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567816	0.65651	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.54866	0.55;0.55	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.248804	0.30302	N	0.009924	T	0.50871	0.1641	N	0.13299	0.325	0.31644	N	0.64763	D	0.76494	0.999	D	0.72338	0.977	T	0.54384	-0.8302	10	0.36615	T	0.2	.	9.1532	0.36976	0.1715:0.6825:0.1459:0.0	.	307	P49683	PRLHR_HUMAN	P	307	ENSP00000239032:A307P;ENSP00000358167:A307P	ENSP00000239032:A307P	A	-	1	0	PRLHR	120343828	0.762000	0.28451	0.992000	0.48379	0.934000	0.57294	1.050000	0.30404	2.255000	0.74692	0.561000	0.74099	GCC		PASS	0.647	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		16	46	16	46	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122618251	122618251	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:122618251G>C	ENST00000263461.6	+	3	541	c.295G>C	c.(295-297)Gat>Cat	p.D99H		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	495					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.D99H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CATCGTCTGGGATGTAGCAGC	0.463																																						uc010qtf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GAT>CAT		bromodomain and WD repeat domain containing 2							190.0	147.0	162.0					10																	122618251		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122618251G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.295G>C	10.37:g.122618251G>C	ENSP00000263461:p.Asp99His					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.D99H	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			3	533	+			99			WD 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.295G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025309	0.93518	.	.	ENSG00000120008	ENST00000263461	T	0.41758	0.99	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71258	-0.4646	10	0.87932	D	0	-26.7595	19.6383	0.95746	0.0:0.0:1.0:0.0	.	99	Q9BZH6	WDR11_HUMAN	H	99	ENSP00000263461:D99H	ENSP00000263461:D99H	D	+	1	0	WDR11	122608241	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.454000	0.97621	2.631000	0.89168	0.655000	0.94253	GAT		PASS	0.463	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			11	42	11	42	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122664830	122664830	+	Splice_Site	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:122664830G>A	ENST00000263461.6	+	26	3439		c.e26-1		WDR11_ENST00000604509.1_Splice_Site	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11						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.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTGTCTTTCAGAGGGCGTTCA	0.502																																						uc010qtf.1																			1	Unknown(1)		lung(1)		0						c.e26-1		bromodomain and WD repeat domain containing 2							84.0	80.0	81.0					10																	122664830		2203	4300	6503	SO:0001630	splice_region_variant	55717					integral to membrane		g.chr10:122664830G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3194-1G>A	10.37:g.122664830G>A						WDR11_uc010qte.1_Splice_Site_p.E667_splice|WDR11_uc001lfd.1_Splice_Site_p.E583_splice|WDR11_uc009xzn.2_Splice_Site_p.E356_splice|uc001lfe.1_5'Flank	p.E1065_splice	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			26	3432	+								A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000263461.6	37	c.3194_splice	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564524	0.45694	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR11	122654820	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	9.381000	0.97205	2.814000	0.96858	0.563000	0.77884	.		PASS	0.502	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		Intron	36	75	36	75	---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126660603	126660603	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:126660603G>A	ENST00000359653.4	+	3	1443	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	358					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E358K(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATCCGGAGAGAGATAGCTGC	0.418																																						uc001lic.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1072-1074)GAG>AAG		zinc finger, RAN-binding domain containing 1							134.0	134.0	134.0					10																	126660603		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126660603G>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1072G>A	10.37:g.126660603G>A	ENSP00000352676:p.Glu358Lys					ZRANB1_uc010qug.1_Missense_Mutation_p.E384K	p.E358K	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	3	1443	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	358					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1072G>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163389	0.94727	.	.	ENSG00000019995	ENST00000359653	T	0.17370	2.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.59436	1.845	0.80722	D	1	D	0.54047	0.964	P	0.47744	0.556	T	0.01256	-1.1404	10	0.46703	T	0.11	-20.4907	19.069	0.93125	0.0:0.0:1.0:0.0	.	358	Q9UGI0	ZRAN1_HUMAN	K	358	ENSP00000352676:E358K	ENSP00000352676:E358K	E	+	1	0	ZRANB1	126650593	1.000000	0.71417	0.897000	0.35233	0.980000	0.70556	9.476000	0.97823	2.514000	0.84764	0.585000	0.79938	GAG		PASS	0.418	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		44	109	44	109	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129911827	129911827	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:129911827G>A	ENST00000368654.3	-	8	1895	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.S147F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	507					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S507F(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCACCAAAGGACACACGCCT	0.418																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1519-1521)TCC>TTC		antigen identified by monoclonal antibody Ki-67							138.0	124.0	129.0					10																	129911827		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129911827G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1520C>T	10.37:g.129911827G>A	ENSP00000357643:p.Ser507Phe					MKI67_uc001lkf.2_Missense_Mutation_p.S147F|MKI67_uc009yav.1_Missense_Mutation_p.S82F|MKI67_uc009yaw.1_Intron	p.S507F	NM_002417	NP_002408	P46013	KI67_HUMAN			8	1715	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	507					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1520C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897160	0.91962	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.02837	4.14;4.28	4.84	4.84	0.62591	.	0.142736	0.48286	D	0.000187	T	0.15869	0.0382	M	0.77103	2.36	0.52099	D	0.999941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00131	-1.2013	10	0.87932	D	0	.	16.3392	0.83076	0.0:0.0:1.0:0.0	.	507;147;507	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	F	507;147;507;82	ENSP00000357643:S507F;ENSP00000357642:S147F	ENSP00000357641:S82F	S	-	2	0	MKI67	129801817	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.213000	0.89758	2.518000	0.84900	0.655000	0.94253	TCC		PASS	0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		37	91	37	91	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134006222	134006222	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:134006222G>T	ENST00000338492.4	+	3	353	c.189G>T	c.(187-189)ctG>ctT	p.L63L	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_5'Flank	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	63					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L63L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCCACGGCCTGATGGTCCTTC	0.587																																						uc009ybb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(187-189)CTG>CTT		dihydropyrimidinase-like 4							115.0	93.0	100.0					10																	134006222		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006222G>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.189G>T	10.37:g.134006222G>T							p.L63L	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	343	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	63					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.189G>T	CCDS7665.1																																																																																				PASS	0.587	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			37	49	37	49	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	134996995	134996995	+	Splice_Site	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:134996995G>A	ENST00000304613.3	+	4	528		c.e4+1		KNDC1_ENST00000368572.2_Splice_Site|KNDC1_ENST00000368571.2_Splice_Site			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1						cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.?(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGACCTTGAGGTAAGCGAGGC	0.701																																						uc001llz.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e4+1		kinase non-catalytic C-lobe domain (KIND)							14.0	18.0	17.0					10																	134996995		2195	4289	6484	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134996995G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.507+1G>A	10.37:g.134996995G>A						KNDC1_uc001lma.1_Splice_Site_p.E104_splice	p.E169_splice	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	4	508	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)						B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	37	c.507_splice	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434599	0.12045	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0565	0.36408	0.0:0.0:0.7803:0.2197	.	.	.	.	.	-1	.	.	.	+	.	.	KNDC1	134846985	1.000000	0.71417	0.525000	0.27900	0.023000	0.10783	3.649000	0.54417	2.181000	0.69327	0.450000	0.29827	.		PASS	0.701	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Intron	8	10	8	10	---	---	---	---
ANO9	338440	broad.mit.edu	37	11	428392	428392	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:428392G>A	ENST00000332826.6	-	14	1272	c.1188C>T	c.(1186-1188)atC>atT	p.I396I		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	396					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.I396I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CGCACCTGTTGATCTGCGGAG	0.672																																						uc001lpi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1186-1188)ATC>ATT		tumor protein p53 inducible protein 5							29.0	34.0	33.0					11																	428392		2198	4288	6486	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:428392G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1188C>T	11.37:g.428392G>A						ANO9_uc001lph.2_Silent_p.I89I|ANO9_uc010qvv.1_Silent_p.I252I	p.I396I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			14	1273	-			396			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1188C>T	CCDS31326.1																																																																																				PASS	0.672	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		15	37	15	37	---	---	---	---
OR52N2	390077	broad.mit.edu	37	11	5842405	5842405	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:5842405C>A	ENST00000317037.2	+	1	862	c.840C>A	c.(838-840)gcC>gcA	p.A280A	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCGTGGCCAACCTTTATC	0.398																																						uc010qzp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(838-840)GCC>GCA		olfactory receptor, family 52, subfamily N,							169.0	143.0	151.0					11																	5842405		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842405C>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.840C>A	11.37:g.5842405C>A						TRIM5_uc001mbq.1_Intron	p.A280A	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	840	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	280			Helical; Name=7; (Potential).		Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.840C>A	CCDS31399.1																																																																																				PASS	0.398	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		82	42	82	42	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862858	5862858	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:5862858A>G	ENST00000329322.5	-	1	269	c.270T>C	c.(268-270)aaT>aaC	p.N90N	OR52E6_ENST00000379946.2_Silent_p.N94N|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N94N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCTTGATATTGAACCAGA	0.473																																						uc010qzq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(268-270)AAT>AAC		olfactory receptor, family 52, subfamily E,							128.0	128.0	128.0					11																	5862858		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862858A>G	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.270T>C	11.37:g.5862858A>G						TRIM5_uc001mbq.1_Intron	p.N90N	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	270	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	90			Extracellular (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.270T>C	CCDS53597.1																																																																																				PASS	0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		81	74	81	74	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7067933	7067933	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:7067933C>A	ENST00000299481.4	+	5	2339	c.1993C>A	c.(1993-1995)Ctc>Atc	p.L665I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	665					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.L665I(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGGCAAGATCTCTGTTCTGT	0.378																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1993-1995)CTC>ATC		NLR family, pyrin domain containing 14							251.0	214.0	227.0					11																	7067933		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7067933C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1993C>A	11.37:g.7067933C>A	ENSP00000299481:p.Leu665Ile						p.L665I	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	5	2316	+			665					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1993C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628852	0.67015	.	.	ENSG00000158077	ENST00000299481	T	0.25414	1.8	4.52	3.61	0.41365	.	0.000000	0.39834	N	0.001252	T	0.18383	0.0441	N	0.25094	0.71	0.32119	N	0.588246	D	0.58620	0.983	P	0.47744	0.556	T	0.08126	-1.0737	10	0.16420	T	0.52	.	8.4961	0.33130	0.0:0.8939:0.0:0.1061	.	665	Q86W24	NAL14_HUMAN	I	665	ENSP00000299481:L665I	ENSP00000299481:L665I	L	+	1	0	NLRP14	7024509	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	1.413000	0.34725	1.261000	0.44149	0.585000	0.79938	CTC		PASS	0.378	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		55	153	55	153	---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111393	7111393	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:7111393C>A	ENST00000306904.5	+	1	1229	c.1042C>A	c.(1042-1044)Cgt>Agt	p.R348S		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	348	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R348S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGACCAGATCGTGGGCTCTC	0.672																																						uc001mfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)CGT>AGT		testes-specific heterogenous nuclear							20.0	22.0	21.0					11																	7111393		2200	4296	6496	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111393C>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1042C>A	11.37:g.7111393C>A	ENSP00000304139:p.Arg348Ser						p.R348S	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1229	+			348			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.1042C>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679542	0.29783	.	.	ENSG00000170748	ENST00000306904	T	0.80393	-1.37	3.3	3.3	0.37823	.	0.000000	0.85682	U	0.000000	D	0.83557	0.5280	L	0.38175	1.15	0.42978	D	0.994457	D	0.76494	0.999	D	0.77004	0.989	D	0.85382	0.1120	10	0.72032	D	0.01	.	12.875	0.57986	0.0:1.0:0.0:0.0	.	348	O75526	HNRGT_HUMAN	S	348	ENSP00000304139:R348S	ENSP00000304139:R348S	R	+	1	0	RBMXL2	7067969	0.992000	0.36948	0.986000	0.45419	0.448000	0.32197	2.750000	0.47500	2.136000	0.66102	0.563000	0.77884	CGT		PASS	0.672	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		12	20	12	20	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167307	9167307	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:9167307G>A	ENST00000328194.3	-	17	3233	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	DENND5A_ENST00000527700.1_Silent_p.F314F|DENND5A_ENST00000530044.1_Silent_p.F971F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	971	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F971F(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTTGGCAGTGAACATGGAGC	0.468																																						uc001mhl.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)	1						c.(2911-2913)TTC>TTT		RAB6 interacting protein 1							296.0	286.0	290.0					11																	9167307		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9167307G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2913C>T	11.37:g.9167307G>A						DENND5A_uc001mhk.2_Silent_p.F314F|DENND5A_uc010rbw.1_Silent_p.F971F|DENND5A_uc010rbx.1_RNA	p.F971F	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			17	3168	-			971			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2913C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897804|1.897804	0.33535|0.33535	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000524446|ENST00000525784	.|.	.|.	.|.	5.85|5.85	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.61337|0.61337	0.2339|0.2339	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56896|0.56896	-0.7903|-0.7903	4|4	.|.	.|.	.|.	.|.	10.6151|10.6151	0.45445|0.45445	0.248:0.0:0.752:0.0|0.248:0.0:0.752:0.0	.|.	.|.	.|.	.|.	Y|L	142|19	.|.	.|.	H|S	-|-	1|2	0|0	DENND5A|DENND5A	9123883|9123883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.829000|3.829000	0.55760|0.55760	0.686000|0.686000	0.31488|0.31488	0.650000|0.650000	0.86243|0.86243	CAC|TCA		PASS	0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		38	370	38	370	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	10052684	10052684	+	Missense_Mutation	SNP	T	T	C	rs139730490		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:10052684T>C	ENST00000256190.8	-	4	450	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	105					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K105E(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGACACTTTTGCTTCACCT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		14147	0.001		0.0	False		,,,				2504	0.0					uc001mib.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(313-315)AAA>GAA		SET binding factor 2		C	GLU/LYS	1,4401	825.8+/-416.5	0,1,2200	159.0	159.0	159.0		313	4.8	1.0	11	dbSNP_134	159	0,8588		0,0,4294	no	missense	SBF2	NM_030962.3	56	0,1,6494	CC,CT,TT		0.0,0.0227,0.0077	benign	105/1850	10052684	1,12989	2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10052684T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.313A>G	11.37:g.10052684T>C	ENSP00000256190:p.Lys105Glu					SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	p.K105E	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	4	451	-			105					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.313A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	7.981	0.751144	0.15778	2.27E-4	0.0	ENSG00000133812	ENST00000256190	D	0.84589	-1.87	4.82	4.82	0.62117	.	0.121998	0.56097	N	0.000037	T	0.52322	0.1727	N	0.00114	-2.085	0.24168	N	0.995633	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	9	.	.	.	.	13.3046	0.60345	0.0:0.923:0.0:0.077	.	105	Q86WG5	MTMRD_HUMAN	E	105	ENSP00000256190:K105E	.	K	-	1	0	SBF2	10009260	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.435000	0.59941	1.053000	0.40415	-0.128000	0.14901	AAA		PASS	0.378	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		126	74	126	74	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20676280	20676280	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:20676280C>T	ENST00000525748.1	+	16	2533	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	754					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P754S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGTGTGCTCGCCACAGCCGGA	0.562																																						uc001mqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2260-2262)CCA>TCA		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						105.0	103.0	104.0					11																	20676280		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676280C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2260C>T	11.37:g.20676280C>T	ENSP00000434364:p.Pro754Ser					SLC6A5_uc009yic.2_Missense_Mutation_p.P519S	p.P754S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			16	2533	+			754			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2260C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267035	0.95399	.	.	ENSG00000165970	ENST00000525748	T	0.79653	-1.29	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.85757	0.1347	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	754	Q9Y345	SC6A5_HUMAN	S	754	ENSP00000434364:P754S	ENSP00000434364:P754S	P	+	1	0	SLC6A5	20632856	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	7.440000	0.80464	2.873000	0.98535	0.563000	0.77884	CCA		PASS	0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		67	57	67	57	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21556041	21556041	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:21556041G>C	ENST00000357134.5	+	16	1919	c.1767G>C	c.(1765-1767)ctG>ctC	p.L589L	NELL1_ENST00000325319.5_Silent_p.L532L|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Silent_p.L617L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	589					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.L589L(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTATTCACTGTCCGGGGAGT	0.542																																						uc001mqe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1765-1767)CTG>CTC		nel-like 1 isoform 1 precursor							169.0	139.0	149.0					11																	21556041		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556041G>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1767G>C	11.37:g.21556041G>C						NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Silent_p.L617L|NELL1_uc010rdo.1_Silent_p.L532L|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Missense_Mutation_p.C199S	p.L589L	NM_006157	NP_006148	Q92832	NELL1_HUMAN			16	1920	+			589			EGF-like 5; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1767G>C	CCDS7855.1																																																																																				PASS	0.542	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		35	37	35	37	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26663549	26663549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:26663549G>T	ENST00000256737.3	+	22	3100	c.2248G>T	c.(2248-2250)Gga>Tga	p.G750*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.G734*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.G604*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.G734*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	750					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.G750*(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						GAACCTTCATGGACTGATGGA	0.418																																						uc001mqt.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2248-2250)GGA>TGA		transmembrane protein 16C							114.0	106.0	109.0					11																	26663549		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26663549G>T	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.2248G>T	11.37:g.26663549G>T	ENSP00000256737:p.Gly750*					ANO3_uc010rdr.1_Nonsense_Mutation_p.G734*|ANO3_uc010rds.1_Nonsense_Mutation_p.G589*|ANO3_uc010rdt.1_Nonsense_Mutation_p.G604*	p.G750*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			22	2393	+			750			Extracellular (Potential).		B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.2248G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	41	8.582097	0.98872	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	734;734;750;652;604	.	ENSP00000256737:G750X	G	+	1	0	ANO3	26620125	1.000000	0.71417	0.978000	0.43139	0.955000	0.61496	9.750000	0.98875	2.805000	0.96524	0.655000	0.94253	GGA		PASS	0.418	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		71	32	71	32	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26743234	26743234	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:26743234C>T	ENST00000396005.3	-	1	337	c.28G>A	c.(28-30)Gat>Aat	p.D10N	SLC5A12_ENST00000280467.6_Missense_Mutation_p.D10N	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	10					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.D10N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACAACATAATCCCAAACTGCA	0.418																																						uc001mra.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(28-30)GAT>AAT		solute carrier family 5 (sodium/glucose							88.0	90.0	90.0					11																	26743234		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743234C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.28G>A	11.37:g.26743234C>T	ENSP00000379326:p.Asp10Asn					SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.D10N	p.D10N	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			1	341	-			10			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.28G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	32	5.161399	0.94727	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91295	-2.82;-2.17	5.59	5.59	0.84812	.	0.058073	0.64402	D	0.000004	D	0.97052	0.9037	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97837	1.0266	10	0.87932	D	0	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	10;10	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	N	10	ENSP00000379326:D10N;ENSP00000280467:D10N	ENSP00000280467:D10N	D	-	1	0	SLC5A12	26699810	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.782000	0.85680	2.643000	0.89663	0.585000	0.79938	GAT		PASS	0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		27	104	27	104	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32674691	32674691	+	Missense_Mutation	SNP	T	T	A	rs372923856		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:32674691T>A	ENST00000335185.5	-	12	960	c.917A>T	c.(916-918)aAg>aTg	p.K306M	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	306								p.K306M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTAGCACCTTCAATTCTGC	0.328																																						uc001mtv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(916-918)AAG>ATG		sarcoma antigen NY-SAR-79							148.0	141.0	143.0					11																	32674691		1863	4101	5964	SO:0001583	missense	493860							g.chr11:32674691T>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.917A>T	11.37:g.32674691T>A	ENSP00000335325:p.Lys306Met					CCDC73_uc001mtw.1_Missense_Mutation_p.K296M	p.K306M	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			12	961	-	Breast(20;0.112)		306			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.917A>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617556	0.46736	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.63	5.63	0.86233	.	0.187285	0.45126	D	0.000390	T	0.71273	0.3320	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	T	0.73398	-0.3995	9	0.59425	D	0.04	.	11.126	0.48320	0.0:0.0:0.1541:0.8459	.	296;306	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	M	306	.	ENSP00000335325:K306M	K	-	2	0	CCDC73	32631267	0.997000	0.39634	0.936000	0.37596	0.287000	0.27160	3.168000	0.50801	2.145000	0.66743	0.397000	0.26171	AAG		PASS	0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		50	39	50	39	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33566887	33566887	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:33566887G>T	ENST00000321505.4	+	2	2637	c.2457G>T	c.(2455-2457)ctG>ctT	p.L819L	KIAA1549L_ENST00000265654.5_Silent_p.L825L|KIAA1549L_ENST00000389726.3_Silent_p.L825L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	819						integral component of membrane (GO:0016021)		p.L825L(1)|p.L819L(1)									CATCCAACCTGGAGTGTCAGA	0.527																																						uc001mup.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2473-2475)CTG>CTT		hypothetical protein LOC25758							28.0	31.0	30.0					11																	33566887		2071	4227	6298	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33566887G>T	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.2457G>T	11.37:g.33566887G>T						C11orf41_uc001mun.1_Silent_p.L825L	p.L825L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			2	2599	+			819					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.2475G>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	7.164	0.586261	0.13749	.	.	ENSG00000110427	ENST00000526400	.	.	.	5.81	2.44	0.29823	.	.	.	.	.	T	0.59865	0.2225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55964	-0.8057	4	.	.	.	-9.2443	10.7495	0.46200	0.0745:0.2471:0.6784:0.0	.	.	.	.	L	217	.	.	W	+	2	0	C11orf41	33523463	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.167000	0.42415	0.785000	0.33685	0.561000	0.74099	TGG		PASS	0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	9	12	9	---	---	---	---
TRIM44	54765	broad.mit.edu	37	11	35747495	35747495	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:35747495G>A	ENST00000299413.5	+	3	1078	c.771G>A	c.(769-771)atG>atA	p.M257I	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	257						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.M257I(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				AAATGAAGATGTTTATACAGC	0.403																																						uc001mwi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(769-771)ATG>ATA		DIPB protein							53.0	52.0	52.0					11																	35747495		2202	4298	6500	SO:0001583	missense	54765					intracellular	protein binding|zinc ion binding	g.chr11:35747495G>A	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.771G>A	11.37:g.35747495G>A	ENSP00000299413:p.Met257Ile						p.M257I	NM_017583	NP_060053	Q96DX7	TRI44_HUMAN			3	1078	+	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)	257					D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	c.771G>A	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	G	7.297	0.612337	0.14066	.	.	ENSG00000166326	ENST00000299413	T	0.29655	1.56	5.24	1.6	0.23607	.	1.005730	0.08017	N	0.991447	T	0.12732	0.0309	N	0.08118	0	0.21256	N	0.999748	B	0.02656	0.0	B	0.01281	0.0	T	0.33701	-0.9858	10	0.07325	T	0.83	-7.1926	4.8348	0.13458	0.2357:0.2996:0.4648:0.0	.	257	Q96DX7	TRI44_HUMAN	I	257	ENSP00000299413:M257I	ENSP00000299413:M257I	M	+	3	0	TRIM44	35704071	0.741000	0.28217	0.990000	0.47175	0.985000	0.73830	0.688000	0.25422	0.362000	0.24319	0.655000	0.94253	ATG		PASS	0.403	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583		37	31	37	31	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136617	40136617	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:40136617C>T	ENST00000278198.2	-	2	3189	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.G409D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G409D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G409D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	409	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.G409D(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTAACGTACCATCACTGAG	0.458																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1225-1227)GGT>GAT		netrin-G1 ligand precursor							209.0	180.0	190.0					11																	40136617		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136617C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1226G>A	11.37:g.40136617C>T	ENSP00000278198:p.Gly409Asp					LRRC4C_uc001mxc.1_Missense_Mutation_p.G405D|LRRC4C_uc001mxd.1_Missense_Mutation_p.G405D|LRRC4C_uc001mxb.1_Missense_Mutation_p.G405D	p.G409D	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3190	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	409			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1226G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425264	0.62733	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65067	-0.6258	10	0.87932	D	0	.	18.9478	0.92628	0.0:1.0:0.0:0.0	.	409	Q9HCJ2	LRC4C_HUMAN	D	409	ENSP00000278198:G409D;ENSP00000436976:G409D;ENSP00000437132:G409D;ENSP00000434761:G409D	ENSP00000278198:G409D	G	-	2	0	LRRC4C	40093193	1.000000	0.71417	0.888000	0.34837	0.953000	0.61014	7.757000	0.85209	2.726000	0.93360	0.655000	0.94253	GGT		PASS	0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		53	157	53	157	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136954	40136954	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:40136954G>T	ENST00000278198.2	-	2	2852	c.889C>A	c.(889-891)Cat>Aat	p.H297N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H297N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H297N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H297N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	297					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.H297N(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGTAAATGTATCCGCTCT	0.478																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(889-891)CAT>AAT		netrin-G1 ligand precursor							189.0	154.0	166.0					11																	40136954		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136954G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.889C>A	11.37:g.40136954G>T	ENSP00000278198:p.His297Asn					LRRC4C_uc001mxc.1_Missense_Mutation_p.H293N|LRRC4C_uc001mxd.1_Missense_Mutation_p.H293N|LRRC4C_uc001mxb.1_Missense_Mutation_p.H293N	p.H297N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2853	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	297					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.889C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640519	0.29157	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.75	5.75	0.90469	.	0.049096	0.85682	D	0.000000	T	0.40297	0.1111	L	0.27053	0.805	0.80722	D	1	B	0.14805	0.011	B	0.23852	0.049	T	0.11591	-1.0581	10	0.30078	T	0.28	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	297	Q9HCJ2	LRC4C_HUMAN	N	297	ENSP00000278198:H297N;ENSP00000436976:H297N;ENSP00000437132:H297N;ENSP00000434761:H297N	ENSP00000278198:H297N	H	-	1	0	LRRC4C	40093530	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CAT		PASS	0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		70	70	70	70	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432923	55432923	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:55432923G>T	ENST00000314259.3	+	1	310	c.281G>T	c.(280-282)gGc>gTc	p.G94V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G94V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTCTCAAAGGCTGCCTCACC	0.522																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(280-282)GGC>GTC		olfactory receptor, family 4, subfamily C,							139.0	125.0	130.0					11																	55432923		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432923G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.281G>T	11.37:g.55432923G>T	ENSP00000324769:p.Gly94Val					OR4C6_uc010rik.1_Missense_Mutation_p.G94V	p.G94V	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	546	+			94			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.281G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600325	0.28534	.	.	ENSG00000181903	ENST00000314259	T	0.09817	2.94	3.83	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001416	T	0.31796	0.0808	M	0.91354	3.2	0.35117	D	0.766738	D	0.58620	0.983	P	0.61592	0.891	T	0.45702	-0.9243	10	0.72032	D	0.01	.	7.176	0.25744	0.0967:0.0:0.7373:0.166	.	94	Q8NH72	OR4C6_HUMAN	V	94	ENSP00000324769:G94V	ENSP00000324769:G94V	G	+	2	0	OR4C6	55189499	0.000000	0.05858	0.765000	0.31456	0.064000	0.16182	0.128000	0.15810	0.589000	0.29677	0.543000	0.68304	GGC		PASS	0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		60	53	60	53	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433293	55433293	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:55433293G>T	ENST00000314259.3	+	1	680	c.651G>T	c.(649-651)acG>acT	p.T217T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T217T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CGTCCTACACGGTCATCCTAT	0.522																																						uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(649-651)ACG>ACT		olfactory receptor, family 4, subfamily C,							136.0	123.0	127.0					11																	55433293		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433293G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.651G>T	11.37:g.55433293G>T						OR4C6_uc010rik.1_Silent_p.T217T	p.T217T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	916	+			217			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.651G>T	CCDS31506.1																																																																																				PASS	0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		34	88	34	88	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606570	55606570	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:55606570A>T	ENST00000378396.1	+	1	343	c.343A>T	c.(343-345)Att>Ttt	p.I115F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I115F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GACTGAATTAATTCTATTTGC	0.438																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(343-345)ATT>TTT		olfactory receptor, family 5, subfamily D,							126.0	123.0	124.0					11																	55606570		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606570A>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.343A>T	11.37:g.55606570A>T	ENSP00000367649:p.Ile115Phe						p.I115F	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	343	+		all_epithelial(135;0.208)	115			Helical; Name=3; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.343A>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	0.214	-1.034269	0.02029	.	.	ENSG00000205029	ENST00000378396	T	0.02085	4.46	4.15	-2.32	0.06745	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	N	0.00204	-1.855	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47086	-0.9144	9	0.02654	T	1	-13.6999	6.9602	0.24593	0.2418:0.1294:0.0:0.6289	.	115	Q8NGK9	OR5DG_HUMAN	F	115	ENSP00000367649:I115F	ENSP00000367649:I115F	I	+	1	0	OR5D16	55363146	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-1.451000	0.02387	-0.198000	0.10333	0.433000	0.28618	ATT		PASS	0.438	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		62	144	62	144	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735665	55735665	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:55735665A>G	ENST00000312345.2	-	1	325	c.275T>C	c.(274-276)aTg>aCg	p.M92T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M92T(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)					AAAAAAACACATTTGTGTAGC	0.403																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(274-276)ATG>ACG		olfactory receptor, family 10, subfamily AG,							83.0	87.0	85.0					11																	55735665		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735665A>G	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.275T>C	11.37:g.55735665A>G	ENSP00000311477:p.Met92Thr						p.M92T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	275	-	Esophageal squamous(21;0.0137)		92			Helical; Name=3; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.275T>C	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	7.648	0.682230	0.14907	.	.	ENSG00000174970	ENST00000312345	T	0.02032	4.49	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.105006	0.44483	D	0.000456	T	0.03871	0.0109	M	0.72576	2.205	0.09310	N	1	B	0.23316	0.083	B	0.18561	0.022	T	0.26360	-1.0105	10	0.59425	D	0.04	.	8.2558	0.31756	0.9113:0.0:0.0887:0.0	.	92	Q8NH19	O10AG_HUMAN	T	92	ENSP00000311477:M92T	ENSP00000311477:M92T	M	-	2	0	OR10AG1	55492241	0.001000	0.12720	0.992000	0.48379	0.397000	0.30659	1.345000	0.33953	2.121000	0.65114	0.391000	0.25812	ATG		PASS	0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		85	71	85	71	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	55999618	55999618	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:55999618C>A	ENST00000313264.4	-	1	1119	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	348						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q348H(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATTGATAACCTGATTTTTCC	0.323																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1042-1044)CAG>CAT		olfactory receptor, family 5, subfamily T,							30.0	30.0	30.0					11																	55999618		2199	4293	6492	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999618C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1044G>T	11.37:g.55999618C>A	ENSP00000323688:p.Gln348His						p.Q348H	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	1044	-	Esophageal squamous(21;0.00448)		348			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.1044G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	2.127	-0.400109	0.04865	.	.	ENSG00000181718	ENST00000313264	T	0.00666	5.91	4.35	-2.61	0.06171	.	23.758900	0.00166	U	0.000002	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47983	-0.9074	10	0.15066	T	0.55	.	0.151	0.00093	0.2944:0.2634:0.1546:0.2875	.	348	Q8NGG2	OR5T2_HUMAN	H	348	ENSP00000323688:Q348H	ENSP00000323688:Q348H	Q	-	3	2	OR5T2	55756194	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.441000	0.06879	-0.309000	0.08779	0.465000	0.42564	CAG		PASS	0.323	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		48	27	48	27	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57117248	57117248	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:57117248A>T	ENST00000263314.2	+	7	615	c.581A>T	c.(580-582)aAc>aTc	p.N194I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	194					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.N194I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTCCTTCCCAACCTGACAGCC	0.617											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)AAC>ATC		purinergic receptor P2X3							67.0	53.0	58.0					11																	57117248		2201	4296	6497	SO:0001583	missense	5024				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.chr11:57117248A>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.581A>T	11.37:g.57117248A>T	ENSP00000263314:p.Asn194Ile		OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1020		p.N194I	NM_002559	NP_002550	P56373	P2RX3_HUMAN			7	657	+			194			Extracellular (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.581A>T	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769511	0.49680	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04406	3.63	5.78	3.47	0.39725	.	0.346287	0.32473	N	0.006051	T	0.07458	0.0188	L	0.60455	1.87	0.41910	D	0.990462	P	0.39480	0.675	B	0.42343	0.384	T	0.23048	-1.0199	10	0.41790	T	0.15	-32.7891	8.3332	0.32200	0.8429:0.0:0.1571:0.0	.	194	P56373	P2RX3_HUMAN	I	194	ENSP00000263314:N194I	ENSP00000263314:N194I	N	+	2	0	P2RX3	56873824	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.704000	0.47118	0.462000	0.27095	0.528000	0.53228	AAC		PASS	0.617	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		20	18	20	18	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979633	58979633	+	Missense_Mutation	SNP	C	C	T	rs200053414		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:58979633C>T	ENST00000361050.3	-	1	791	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	236	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.V236M(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCGGTCACGGCACTACGA	0.542																																						uc001nnu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)GTG>ATG		macrophage expressed gene 1 precursor							51.0	50.0	50.0					11																	58979633		1936	4127	6063	SO:0001583	missense	219972					integral to membrane		g.chr11:58979633C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.706G>A	11.37:g.58979633C>T	ENSP00000354335:p.Val236Met						p.V236M	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	862	-		all_epithelial(135;0.125)	236			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.706G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	2.940	-0.218999	0.06101	.	.	ENSG00000197629	ENST00000361050	D	0.85484	-1.99	5.21	-6.59	0.01830	Membrane attack complex component/perforin (MACPF) domain (3);	0.540105	0.18624	N	0.135781	T	0.75925	0.3916	M	0.66939	2.045	0.19945	N	0.999946	B	0.20988	0.05	B	0.24394	0.053	T	0.62044	-0.6937	10	0.49607	T	0.09	-0.1506	3.1154	0.06372	0.1153:0.1303:0.2299:0.5244	.	236	Q2M385	MPEG1_HUMAN	M	236	ENSP00000354335:V236M	ENSP00000354335:V236M	V	-	1	0	MPEG1	58736209	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.342000	0.02645	-1.177000	0.02744	-0.998000	0.02512	GTG		PASS	0.542	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		13	55	13	55	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58980144	58980144	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:58980144C>G	ENST00000361050.3	-	1	280	c.195G>C	c.(193-195)ttG>ttC	p.L65F	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	65	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.L65F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGGAGTAAGTCAATTCCATAA	0.478																																						uc001nnu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(193-195)TTG>TTC		macrophage expressed gene 1 precursor							178.0	174.0	175.0					11																	58980144		2011	4172	6183	SO:0001583	missense	219972					integral to membrane		g.chr11:58980144C>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.195G>C	11.37:g.58980144C>G	ENSP00000354335:p.Leu65Phe						p.L65F	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	351	-		all_epithelial(135;0.125)	65			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.195G>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664077	0.47572	.	.	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.25250	1.81	5.41	5.41	0.78517	Membrane attack complex component/perforin (MACPF) domain (1);	0.181881	0.36444	N	0.002598	T	0.30854	0.0778	M	0.64997	1.995	0.38227	D	0.940934	P	0.47106	0.89	B	0.41332	0.354	T	0.31586	-0.9938	10	0.62326	D	0.03	-9.4934	16.1993	0.82057	0.0:1.0:0.0:0.0	.	65	Q2M385	MPEG1_HUMAN	F	65	ENSP00000354335:L65F	ENSP00000354335:L65F	L	-	3	2	MPEG1	58736720	0.996000	0.38824	0.338000	0.25549	0.959000	0.62525	2.266000	0.43320	2.564000	0.86499	0.644000	0.83932	TTG		PASS	0.478	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		125	76	125	76	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62286541	62286541	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:62286541T>C	ENST00000378024.4	-	5	15622	c.15348A>G	c.(15346-15348)gaA>gaG	p.E5116E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5116					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E5116E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCTGGAGTTCACCCTCCA	0.483																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(15346-15348)GAA>GAG		AHNAK nucleoprotein isoform 1							72.0	75.0	74.0					11																	62286541		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62286541T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15348A>G	11.37:g.62286541T>C						AHNAK_uc001ntk.1_Intron	p.E5116E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15648	-		Melanoma(852;0.155)	5116					A1A586	Silent	SNP	ENST00000378024.4	37	c.15348A>G	CCDS31584.1																																																																																				PASS	0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		3	85	3	85	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64434752	64434752	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:64434752G>A	ENST00000377551.1	-	8	1979	c.1768C>T	c.(1768-1770)Cac>Tac	p.H590Y	NRXN2_ENST00000377559.3_Missense_Mutation_p.H559Y|NRXN2_ENST00000265459.6_Missense_Mutation_p.H590Y|NRXN2_ENST00000409571.1_Missense_Mutation_p.H583Y			Q9P2S2	NRX2A_HUMAN	neurexin 2	590	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.H590Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGTCCACGTGACACCACTCG	0.602																																						uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1768-1770)CAC>TAC		neurexin 2 isoform alpha-1 precursor							90.0	72.0	78.0					11																	64434752		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64434752G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1768C>T	11.37:g.64434752G>A	ENSP00000366774:p.His590Tyr					NRXN2_uc001oas.2_Missense_Mutation_p.H559Y|NRXN2_uc001oaq.2_Missense_Mutation_p.H257Y	p.H590Y	NM_015080	NP_055895	P58401	NRX2B_HUMAN			10	2207	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1768C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579779	0.86645	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.44688	U	0.000427	D	0.85936	0.5813	M	0.63843	1.955	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.85130	0.997;0.979;0.993	D	0.87465	0.2410	10	0.87932	D	0	.	14.9631	0.71171	0.0:0.0:1.0:0.0	.	559;590;336	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Y	590;559;590;559;583	ENSP00000366774:H590Y;ENSP00000366782:H559Y;ENSP00000265459:H590Y;ENSP00000386416:H583Y	ENSP00000265459:H590Y	H	-	1	0	NRXN2	64191328	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.639000	0.98448	2.383000	0.81215	0.448000	0.29417	CAC		PASS	0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		26	71	26	71	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64677516	64677516	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:64677516A>C	ENST00000377264.3	-	13	1971	c.1859T>G	c.(1858-1860)cTg>cGg	p.L620R	ATG2A_ENST00000421419.2_Missense_Mutation_p.L620R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	620					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L620R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTCACCAGCAGGCCGGCTGG	0.731																																						uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1858-1860)CTG>CGG		autophagy related 2A							8.0	12.0	11.0					11																	64677516		2049	4090	6139	SO:0001583	missense	23130						protein binding	g.chr11:64677516A>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1859T>G	11.37:g.64677516A>C	ENSP00000366475:p.Leu620Arg						p.L620R	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			13	1974	-			620					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1859T>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204260	0.38905	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08008	3.14;3.14	4.64	3.51	0.40186	.	0.737856	0.12402	N	0.472006	T	0.19565	0.0470	L	0.53249	1.67	0.42162	D	0.991605	D	0.76494	0.999	D	0.66196	0.942	T	0.01367	-1.1373	10	0.49607	T	0.09	.	7.0275	0.24948	0.8977:0.0:0.1023:0.0	.	620	Q2TAZ0	ATG2A_HUMAN	R	620	ENSP00000410522:L620R;ENSP00000366475:L620R	ENSP00000366475:L620R	L	-	2	0	ATG2A	64434092	1.000000	0.71417	0.993000	0.49108	0.127000	0.20565	3.242000	0.51384	0.921000	0.36994	0.459000	0.35465	CTG		PASS	0.731	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		23	15	23	15	---	---	---	---
DPF2	5977	broad.mit.edu	37	11	65107889	65107889	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:65107889G>A	ENST00000528416.1	+	2	199	c.66G>A	c.(64-66)gaG>gaA	p.E22E	DPF2_ENST00000252268.4_Silent_p.E22E|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.E22E	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	22					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.E22E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ATGCCATGGAGCAGTGCCACA	0.547																																						uc001odm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(64-66)GAG>GAA		D4, zinc and double PHD fingers family 2							174.0	166.0	169.0					11																	65107889		2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65107889G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.66G>A	11.37:g.65107889G>A						DPF2_uc001odn.2_Silent_p.E22E|DPF2_uc010roe.1_Silent_p.E22E	p.E22E	NM_006268	NP_006259	Q92785	REQU_HUMAN			2	78	+			22					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.66G>A	CCDS8100.1																																																																																				PASS	0.547	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		65	167	65	167	---	---	---	---
SLC25A45	283130	broad.mit.edu	37	11	65147353	65147353	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:65147353A>G	ENST00000527174.1	-	3	193	c.138T>C	c.(136-138)atT>atC	p.I46I	SLC25A45_ENST00000417511.2_Silent_p.I4I|SLC25A45_ENST00000398802.1_Silent_p.I46I|SLC25A45_ENST00000526432.1_Silent_p.I46I|SLC25A45_ENST00000294187.6_Silent_p.I4I|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_Silent_p.I4I			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.I46I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CATGGCGGTAAATCTTGACCA	0.617																																						uc001odp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)ATT>ATC		solute carrier family 25, member 45 isoform b							68.0	75.0	72.0					11																	65147353		2050	4182	6232	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65147353A>G	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.138T>C	11.37:g.65147353A>G						SLC25A45_uc009yqi.1_Silent_p.I46I|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Silent_p.I46I|SLC25A45_uc001ods.1_Silent_p.I4I|SLC25A45_uc001odt.1_Silent_p.I4I	p.I46I	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN			3	560	-			46			Solcar 1.		Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.138T>C	CCDS41670.1																																																																																				PASS	0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		15	46	15	46	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66457282	66457282	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:66457282G>A	ENST00000533211.1	-	29	6274	c.5943C>T	c.(5941-5943)gcC>gcT	p.A1981A	SPTBN2_ENST00000309996.2_Silent_p.A1981A|SPTBN2_ENST00000529997.1_Silent_p.A1981A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1981					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A1981A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACCTCCTCGGCCGCATAGT	0.607																																						uc001ojd.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5941-5943)GCC>GCT		spectrin, beta, non-erythrocytic 2							92.0	101.0	98.0					11																	66457282		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457282G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5943C>T	11.37:g.66457282G>A						SPTBN2_uc001ojc.1_5'Flank	p.A1981A	NM_006946	NP_008877	O15020	SPTN2_HUMAN			28	6015	-			1981			Spectrin 16.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5943C>T	CCDS8150.1																																																																																				PASS	0.607	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		36	145	36	145	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177104	67177104	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:67177104G>A	ENST00000542590.1	+	9	1234	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.R407Q|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	407	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.R407Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCACCGCGGCGGAAACCCCAG	0.711																																						uc001ola.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)CGG>CAG		TBC1 domain family, member 10C							7.0	10.0	9.0					11																	67177104		2130	4153	6283	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67177104G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1220G>A	11.37:g.67177104G>A	ENSP00000443654:p.Arg407Gln					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	p.R407Q	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1249	+			407			Interaction with calcineurin.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.1220G>A	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552794	0.45487	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.07114	3.22;3.22	4.91	3.97	0.46021	.	0.000000	0.46145	D	0.000310	T	0.06096	0.0158	N	0.19112	0.55	0.29251	N	0.871995	D	0.61080	0.989	B	0.44163	0.443	T	0.17077	-1.0381	10	0.34782	T	0.22	.	9.3931	0.38386	0.1001:0.0:0.8999:0.0	.	407	Q8IV04	TB10C_HUMAN	Q	407	ENSP00000310193:R407Q;ENSP00000443654:R407Q	ENSP00000310193:R407Q	R	+	2	0	TBC1D10C	66933680	.	.	0.999000	0.59377	0.885000	0.51271	.	.	2.565000	0.86533	0.455000	0.32223	CGG		PASS	0.711	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		3	7	3	7	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67202553	67202553	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:67202553G>T	ENST00000312629.5	+	15	1407	c.1362G>T	c.(1360-1362)ccG>ccT	p.P454P	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	454	Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.P454P(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			tgccaccgccgccgccctcga	0.706																																						uc001old.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7						c.(1360-1362)CCG>CCT		ribosomal protein S6 kinase, 70kDa, polypeptide							14.0	21.0	19.0					11																	67202553		1914	4104	6018	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67202553G>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1362G>T	11.37:g.67202553G>T						RPS6KB2_uc001olf.2_Silent_p.P254P|RPS6KB2_uc001olg.2_3'UTR|RPS6KB2_uc009yrq.2_3'UTR|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P285P	p.P454P	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		15	1444	+			454			Pro-rich.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.1362G>T	CCDS41677.1																																																																																				PASS	0.706	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		22	25	22	25	---	---	---	---
MRGPRD	116512	broad.mit.edu	37	11	68747787	68747787	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:68747787G>A	ENST00000309106.3	-	1	668	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	223						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V223V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGAGGCCAGGACCACCACGA	0.612																																						uc010rqf.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(667-669)GTC>GTT		MAS-related GPR, member D							63.0	55.0	58.0					11																	68747787		2199	4294	6493	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747787G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.669C>T	11.37:g.68747787G>A							p.V223V	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	669	-			223			Helical; Name=6; (Potential).		Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.669C>T	CCDS31625.1																																																																																				PASS	0.612	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		9	46	9	46	---	---	---	---
FAM181B	220382	broad.mit.edu	37	11	82443575	82443575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:82443575G>T	ENST00000329203.3	-	1	1331	c.1197C>A	c.(1195-1197)taC>taA	p.Y399*		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	399								p.Y399*(1)		large_intestine(1)|lung(2)|prostate(1)	4						CGGTGCGGCTGTAGCCCGCGC	0.692																																						uc001ozp.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1195-1197)TAC>TAA		hypothetical protein LOC220382							9.0	12.0	11.0					11																	82443575		2126	4231	6357	SO:0001587	stop_gained	220382							g.chr11:82443575G>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1197C>A	11.37:g.82443575G>T	ENSP00000365295:p.Tyr399*						p.Y399*	NM_175885	NP_787081	A6NEQ2	F181B_HUMAN			1	1332	-			399					B2RWP1	Nonsense_Mutation	SNP	ENST00000329203.3	37	c.1197C>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383756	0.95967	.	.	ENSG00000182103	ENST00000329203	.	.	.	5.08	4.16	0.48862	.	0.213233	0.31884	U	0.006903	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5881	0.61944	0.0765:0.0:0.9235:0.0	.	.	.	.	X	399	.	.	Y	-	3	2	FAM181B	82121223	1.000000	0.71417	0.998000	0.56505	0.594000	0.36715	1.786000	0.38694	1.338000	0.45544	0.655000	0.94253	TAC		PASS	0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		12	4	12	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424640	89424640	+	RNA	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:89424640T>A	ENST00000532352.1	+	0	1803							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.N330K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAGTAAAAAATTTTACAGAAA	0.323																																						uc001pda.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(988-990)AAT>AAA		folate hydrolase 1B							61.0	64.0	63.0					11																	89424640		2199	4292	6491			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424640T>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424640T>A							p.N330K	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			12	1516	+			330						Missense_Mutation	SNP	ENST00000532352.1	37	c.990T>A																																																																																					PASS	0.323	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		27	33	27	33	---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94180480	94180480	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:94180480G>A	ENST00000323929.3	-	15	1910	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	MRE11A_ENST00000393241.4_Missense_Mutation_p.S563L|MRE11A_ENST00000323977.3_Missense_Mutation_p.S563L|MRE11A_ENST00000407439.3_Missense_Mutation_p.S566L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	563					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S563L(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GGTTGCTGCTGAGATGCTATC	0.483								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc001peu.2																			2	Substitution - Missense(2)		lung(2)	breast(4)|lung(1)	5						c.(1687-1689)TCA>TTA	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							196.0	179.0	185.0					11																	94180480		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94180480G>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1688C>T	11.37:g.94180480G>A	ENSP00000325863:p.Ser563Leu					MRE11A_uc001pev.2_Missense_Mutation_p.S563L|MRE11A_uc009ywj.2_Missense_Mutation_p.S566L	p.S563L	NM_005591	NP_005582	P49959	MRE11_HUMAN			15	1877	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	563					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1688C>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632092	0.46944	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75260	-0.91;-0.91;-0.92;-0.91	5.98	3.87	0.44632	.	1.008720	0.07937	N	0.978505	T	0.67543	0.2904	L	0.54323	1.7	0.09310	N	1	B;B;B	0.25235	0.015;0.0;0.121	B;B;B	0.20767	0.021;0.001;0.031	T	0.53627	-0.8412	10	0.32370	T	0.25	-1.1515	5.8442	0.18657	0.1781:0.0:0.6738:0.1481	.	566;563;563	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	L	563;566;563;563	ENSP00000325863:S563L;ENSP00000385614:S566L;ENSP00000326094:S563L;ENSP00000376933:S563L	ENSP00000325863:S563L	S	-	2	0	MRE11A	93820128	0.001000	0.12720	0.041000	0.18516	0.879000	0.50718	1.049000	0.30392	0.660000	0.30964	0.655000	0.94253	TCA		PASS	0.483	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		15	201	15	201	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95826149	95826149	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:95826149T>G	ENST00000524717.1	-	2	2330	c.1046A>C	c.(1045-1047)cAg>cCg	p.Q349P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	349					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q349P(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGTGCTCCTCTGGCTTTGCTG	0.502			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1045-1047)CAG>CCG		mastermind-like 2							115.0	110.0	111.0					11																	95826149		2017	4178	6195	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95826149T>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1046A>C	11.37:g.95826149T>G	ENSP00000434552:p.Gln349Pro						p.Q349P	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2331	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	349					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.1046A>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508771	0.27036	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.44482	0.92;0.92	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.35128	0.0921	L	0.43152	1.355	0.40762	D	0.983019	B	0.15930	0.015	B	0.13407	0.009	T	0.15150	-1.0447	10	0.27785	T	0.31	-10.2761	12.2449	0.54563	0.0:0.0:0.1419:0.8581	.	349	Q8IZL2	MAML2_HUMAN	P	349	ENSP00000434552:Q349P;ENSP00000412394:Q349P	ENSP00000412394:Q349P	Q	-	2	0	MAML2	95465797	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.266000	0.58871	2.105000	0.64084	0.454000	0.30748	CAG		PASS	0.502	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			40	34	40	34	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101833366	101833366	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:101833366A>G	ENST00000263468.8	+	6	1870	c.1600A>G	c.(1600-1602)Aaa>Gaa	p.K534E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K335E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	534								p.K534E(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCTGATTCAAAAGATGAAAA	0.299																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1600-1602)AAA>GAA		hypothetical protein LOC57562							37.0	40.0	39.0					11																	101833366		2202	4294	6496	SO:0001583	missense	57562						protein binding	g.chr11:101833366A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1600A>G	11.37:g.101833366A>G	ENSP00000263468:p.Lys534Glu					KIAA1377_uc001pgn.2_Missense_Mutation_p.K490E|KIAA1377_uc010run.1_Missense_Mutation_p.K335E|KIAA1377_uc009yxa.1_Missense_Mutation_p.K335E	p.K534E	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1870	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	534					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1600A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	0.059	-1.227682	0.01518	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07114	3.22;3.22	5.28	4.16	0.48862	.	0.529788	0.19646	N	0.109327	T	0.07954	0.0199	L	0.44542	1.39	0.09310	N	1	B	0.20671	0.047	B	0.22386	0.039	T	0.29397	-1.0013	10	0.33940	T	0.23	-7.1784	7.2602	0.26199	0.7799:0.1445:0.0756:0.0	.	534	Q9P2H0	K1377_HUMAN	E	534;335	ENSP00000263468:K534E;ENSP00000443184:K335E	ENSP00000263468:K534E	K	+	1	0	KIAA1377	101338576	0.727000	0.28069	0.437000	0.26809	0.024000	0.10985	0.454000	0.21827	0.952000	0.37798	0.528000	0.53228	AAA		PASS	0.299	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		37	23	37	23	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102464193	102464193	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:102464193G>C	ENST00000260228.2	-	8	1236	c.1224C>G	c.(1222-1224)ttC>ttG	p.F408L	MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	430					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F408L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CTCCCACAAAGAAAAGGGTCT	0.393																																						uc001phc.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(1222-1224)TTC>TTG		matrix metalloproteinase 20 preproprotein							86.0	86.0	86.0					11																	102464193		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102464193G>C	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1224C>G	11.37:g.102464193G>C	ENSP00000260228:p.Phe408Leu						p.F408L	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	8	1237	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	408			Hemopexin-like 3.		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.1224C>G	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718759	0.68844	.	.	ENSG00000137674	ENST00000260228	T	0.06142	3.34	5.07	5.07	0.68467	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.57536	1.79	0.49389	D	0.999786	D	0.64830	0.994	P	0.59948	0.866	T	0.00043	-1.2224	10	0.56958	D	0.05	.	10.8904	0.46992	0.0866:0.0:0.9134:0.0	.	408	O60882	MMP20_HUMAN	L	408	ENSP00000260228:F408L	ENSP00000260228:F408L	F	-	3	2	MMP20	101969403	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.165000	0.58196	2.635000	0.89317	0.655000	0.94253	TTC		PASS	0.393	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			25	67	25	67	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102991224	102991224	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:102991224G>T	ENST00000375735.2	+	7	1192	c.1048G>T	c.(1048-1050)Gcc>Tcc	p.A350S	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.A350S|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A350S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	350	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A350S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTTCTACCTGCCAGTGAAGA	0.323																																						uc001pho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)GCC>TCC		dynein, cytoplasmic 2, heavy chain 1							124.0	127.0	126.0					11																	102991224		1808	4070	5878	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102991224G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1048G>T	11.37:g.102991224G>T	ENSP00000364887:p.Ala350Ser					DYNC2H1_uc001phn.1_Missense_Mutation_p.A350S|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A350S	p.A350S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	7	1192	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	350			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1048G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	0.488	-0.876879	0.02550	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54279	0.58;0.58;0.58	4.89	2.99	0.34606	Dynein heavy chain, domain-1 (1);	1.171420	0.06815	U	0.791085	T	0.24699	0.0599	N	0.02202	-0.64	0.24939	N	0.991866	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.004	T	0.26395	-1.0104	10	0.12766	T	0.61	.	5.5899	0.17295	0.1469:0.0:0.4637:0.3893	.	350;350;350	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	S	350	ENSP00000364887:A350S;ENSP00000334021:A350S;ENSP00000381167:A350S	ENSP00000334021:A350S	A	+	1	0	DYNC2H1	102496434	0.058000	0.20735	0.988000	0.46212	0.856000	0.48823	0.506000	0.22658	0.577000	0.29470	-0.238000	0.12139	GCC		PASS	0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		151	97	151	97	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103025457	103025457	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:103025457G>A	ENST00000375735.2	+	24	3636	c.3492G>A	c.(3490-3492)atG>atA	p.M1164I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M1164I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1164	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTTTTGATGAACTGGCATG	0.294																																						uc001pho.2																			0					0						c.(3490-3492)ATG>ATA		dynein, cytoplasmic 2, heavy chain 1							59.0	54.0	56.0					11																	103025457		1816	4066	5882	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103025457G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3492G>A	11.37:g.103025457G>A	ENSP00000364887:p.Met1164Ile					DYNC2H1_uc001phn.1_Missense_Mutation_p.M1164I|DYNC2H1_uc009yxe.1_Intron	p.M1164I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	24	3636	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1164			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.3492G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814515	0.16607	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60548	0.18;0.18	5.56	4.62	0.57501	Dynein heavy chain, domain-2 (1);	0.576906	0.16186	U	0.225635	T	0.42471	0.1204	L	0.32530	0.975	0.19575	N	0.999963	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23261	-1.0193	10	0.20046	T	0.44	.	7.9423	0.29965	0.0749:0.0:0.6192:0.3059	.	1164;1164	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	1164	ENSP00000364887:M1164I;ENSP00000381167:M1164I	ENSP00000364887:M1164I	M	+	3	0	DYNC2H1	102530667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.304000	0.33482	1.314000	0.45095	0.650000	0.86243	ATG		PASS	0.294	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	5	3	5	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104874003	104874003	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:104874003C>T	ENST00000260315.3	-	4	540	c.541G>A	c.(541-543)Gag>Aag	p.E181K	CASP5_ENST00000526056.1_Missense_Mutation_p.E194K|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.E123K|CASP5_ENST00000418434.1_Missense_Mutation_p.E39K|CASP5_ENST00000531367.1_Missense_Mutation_p.E39K|CASP5_ENST00000393141.2_Missense_Mutation_p.E194K			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	181					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.E165K(1)|p.E194K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CACAGCACCTCATCATGATTT	0.403																																						uc010rva.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(541-543)GAG>AAG		caspase 5 isoform a precursor							125.0	125.0	125.0					11																	104874003		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104874003C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.541G>A	11.37:g.104874003C>T	ENSP00000260315:p.Glu181Lys					CASP5_uc010ruz.1_Missense_Mutation_p.E194K|CASP5_uc010rvb.1_Missense_Mutation_p.E123K|CASP5_uc010rvc.1_Missense_Mutation_p.E39K|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.E181K	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	4	573	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	181					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.541G>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.63	2.294752	0.40594	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367;ENST00000456094	T;T;T;T;T;T;T	0.13089	3.93;3.93;3.93;3.93;3.93;3.93;2.62	4.19	2.25	0.28309	.	0.500610	0.19000	N	0.125361	T	0.24812	0.0602	M	0.73962	2.25	0.47905	D	0.999547	P;D;P;P	0.60160	0.821;0.987;0.782;0.921	B;P;P;P	0.55577	0.388;0.779;0.488;0.686	T	0.02208	-1.1195	10	0.37606	T	0.19	.	6.9903	0.24751	0.0:0.7666:0.0:0.2334	.	39;123;181;194	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	K	194;39;181;123;194;39;165	ENSP00000376849:E194K;ENSP00000398130:E39K;ENSP00000260315:E181K;ENSP00000388365:E123K;ENSP00000436877:E194K;ENSP00000434471:E39K;ENSP00000415241:E165K	ENSP00000260315:E181K	E	-	1	0	CASP5	104379213	0.543000	0.26434	0.288000	0.24862	0.007000	0.05969	0.098000	0.15189	0.888000	0.36160	0.404000	0.27445	GAG		PASS	0.403	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		39	102	39	102	---	---	---	---
CARD16	114769	broad.mit.edu	37	11	104912298	104912298	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:104912298A>G	ENST00000375706.2	-	3	440	c.423T>C	c.(421-423)agT>agC	p.S141S	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_3'UTR|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_3'UTR|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	141					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S141S(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TATATCTTTCACTCCACTTTA	0.398																																						uc001pip.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(421-423)AGT>AGC		caspase-1 dominant-negative inhibitor pseudo-ICE							94.0	96.0	95.0					11																	104912298		2202	4299	6501	SO:0001819	synonymous_variant	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104912298A>G		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.423T>C	11.37:g.104912298A>G						CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	p.S141S	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			3	450	-			141					Q96RJ9	Silent	SNP	ENST00000375706.2	37	c.423T>C	CCDS31661.1																																																																																				PASS	0.398	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			38	94	38	94	---	---	---	---
ATM	472	broad.mit.edu	37	11	108098502	108098502	+	Splice_Site	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:108098502G>A	ENST00000452508.2	+	4	261		c.e4-1		Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTATTTTCAGAAAGAAGTTG	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Unknown(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.e3-1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							81.0	89.0	86.0					11																	108098502		2198	4297	6495	SO:0001630	splice_region_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108098502G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.73-1G>A	11.37:g.108098502G>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Splice_Site_p.K25_splice|ATM_uc001pkc.1_Splice_Site_p.K25_splice	p.K25_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	3	458	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)						B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37	c.73_splice	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122349	0.77436	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000527891;ENST00000532931;ENST00000452508	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2792	0.94046	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107603712	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.761000	0.91691	2.630000	0.89119	0.557000	0.71058	.		PASS	0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron	26	122	26	122	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108549060	108549060	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:108549060G>C	ENST00000322536.3	+	5	685	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	DDX10_ENST00000526794.1_Missense_Mutation_p.E186Q	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E186Q(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACACGAAGCTGAGAGGATCAA	0.403			T	NUP98	AML*																																	uc001pkm.2				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|prostate(1)	4						c.(556-558)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							107.0	98.0	101.0					11																	108549060		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108549060G>C	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.556G>C	11.37:g.108549060G>C	ENSP00000314348:p.Glu186Gln					DDX10_uc001pkl.1_Missense_Mutation_p.E186Q	p.E186Q	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	5	621	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	186			Helicase ATP-binding.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.556G>C	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435762	0.62955	.	.	ENSG00000178105	ENST00000322536;ENST00000526794	T;T	0.15603	2.41;2.41	5.67	5.67	0.87782	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045130	0.85682	D	0.000000	T	0.17323	0.0416	L	0.37561	1.115	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.25884	0.064;0.064	T	0.02698	-1.1122	10	0.33141	T	0.24	-21.8044	19.774	0.96385	0.0:0.0:1.0:0.0	.	186;186	Q13206;E9PIF2	DDX10_HUMAN;.	Q	186	ENSP00000314348:E186Q;ENSP00000432032:E186Q	ENSP00000314348:E186Q	E	+	1	0	DDX10	108054270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.540000	0.67205	2.679000	0.91253	0.591000	0.81541	GAG		PASS	0.403	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		4	104	4	104	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113608312	113608312	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:113608312G>C	ENST00000200135.3	-	14	2142	c.1998C>G	c.(1996-1998)ggC>ggG	p.G666G		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	666					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.G666G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGTAATTTTGCCAATGACCT	0.418																																						uc001poe.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1996-1998)GGC>GGG		centromere/kinetochore protein zw10							159.0	147.0	151.0					11																	113608312		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608312G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1998C>G	11.37:g.113608312G>C						ZW10_uc009yyv.2_RNA	p.G666G	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	2035	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	666					A1A528	Silent	SNP	ENST00000200135.3	37	c.1998C>G	CCDS8363.1																																																																																				PASS	0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		51	141	51	141	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857404	113857404	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:113857404C>T	ENST00000504030.2	+	7	1315	c.870C>T	c.(868-870)atC>atT	p.I290I	HTR3A_ENST00000506841.2_Silent_p.I290I|HTR3A_ENST00000535865.1_Silent_p.I34I|HTR3A_ENST00000299961.5_Silent_p.I275I|HTR3A_ENST00000355556.2_Silent_p.I296I|HTR3A_ENST00000375498.2_Silent_p.I296I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	290					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.I290I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCCTGATCATCGTTTCTGACA	0.597																																						uc010rxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)ATC>ATT		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						102.0	81.0	88.0					11																	113857404		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857404C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.870C>T	11.37:g.113857404C>T						HTR3A_uc010rxa.1_Silent_p.I296I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I275I	p.I296I	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1121	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	290			Helical; Name=2; (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.888C>T																																																																																					PASS	0.597	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		32	71	32	71	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114453663	114453663	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:114453663C>G	ENST00000375478.3	-	3	357	c.177G>C	c.(175-177)ctG>ctC	p.L59L	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	59						extracellular vesicular exosome (GO:0070062)		p.L59L(1)									TTAATGATATCAGTGGTGTTT	0.418																																						uc001ppc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(175-177)CTG>CTC		hypothetical protein LOC54827 isoform 1							256.0	237.0	243.0					11																	114453663		1943	4141	6084	SO:0001819	synonymous_variant	54827					extracellular region		g.chr11:114453663C>G	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.177G>C	11.37:g.114453663C>G						FAM55D_uc001ppd.2_5'UTR	p.L59L	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	358	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	59					Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	c.177G>C	CCDS41718.1																																																																																				PASS	0.418	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		8	264	8	264	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116729308	116729308	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:116729308G>A	ENST00000292055.4	-	20	2590	c.2555C>T	c.(2554-2556)aCa>aTa	p.T852I	SIK3_ENST00000375300.1_Missense_Mutation_p.T910I|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T958I(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCCACTCCTGTTGAAGGGCT	0.582																																						uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2554-2556)ACA>ATA		serine/threonine-protein kinase QSK							81.0	87.0	85.0					11																	116729308		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729308G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2555C>T	11.37:g.116729308G>A	ENSP00000292055:p.Thr852Ile					SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.T155I	p.T852I	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	2591	-			852			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2555C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802619	0.50315	.	.	ENSG00000160584	ENST00000375300;ENST00000292055	T;T	0.72394	-0.62;-0.65	5.58	5.58	0.84498	.	0.684009	0.12074	U	0.501979	T	0.61788	0.2375	N	0.19112	0.55	0.80722	D	1	B;B	0.33919	0.432;0.108	B;B	0.36030	0.216;0.067	T	0.62886	-0.6759	10	0.72032	D	0.01	.	15.0013	0.71473	0.0:0.2517:0.7483:0.0	.	852;852	Q9Y2K2-3;Q9Y2K2	.;SIK3_HUMAN	I	910;852	ENSP00000364449:T910I;ENSP00000292055:T852I	ENSP00000292055:T852I	T	-	2	0	SIK3	116234518	0.998000	0.40836	0.992000	0.48379	0.997000	0.91878	4.509000	0.60448	2.598000	0.87819	0.655000	0.94253	ACA		PASS	0.582	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		53	102	53	102	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118376003	118376003	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:118376003C>G	ENST00000389506.5	+	27	9387	c.9387C>G	c.(9385-9387)ctC>ctG	p.L3129L	KMT2A_ENST00000534358.1_Silent_p.L3132L|KMT2A_ENST00000354520.4_Silent_p.L3091L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3129					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.L3129L(1)|p.L3132L(1)									GAGGTGGTCTCACCCTTACCA	0.458																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9385-9387)CTC>CTG		myeloid/lymphoid or mixed-lineage leukemia							183.0	166.0	172.0					11																	118376003		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376003C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9387C>G	11.37:g.118376003C>G						MLL_uc001ptb.2_Silent_p.L3132L	p.L3129L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9410	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3129					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9387C>G	CCDS31686.1																																																																																				PASS	0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	225	7	225	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119045386	119045387	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:119045386_119045387GG>TT	ENST00000409109.1	+	6	1661_1662	c.1074_1075GG>TT	c.(1072-1077)ctGGag>ctTTag	p.E359*	NLRX1_ENST00000409991.1_Nonsense_Mutation_p.E359*|NLRX1_ENST00000409265.4_Nonsense_Mutation_p.E359*|NLRX1_ENST00000292199.2_Nonsense_Mutation_p.E359*|NLRX1_ENST00000525863.1_Nonsense_Mutation_p.E359*	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	359	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.E359*(4)|p.L358L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCGGAACCTGGAGGGGCACCA	0.639																																						uc001pvu.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|skin(1)	2						c.(1072-1074)CTG>CTT|c.(1075-1077)GAG>TAG		NLR family member X1 isoform 1																																				SO:0001587	stop_gained	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045386G>T|g.chr11:119045387G>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	Exception_encountered	11.37:g.119045386_119045387delinsTT	ENSP00000387334:p.Glu359*					NLRX1_uc010rzc.1_Silent_p.L180L|NLRX1_uc001pvv.2_Silent_p.L358L|NLRX1_uc001pvw.2_Silent_p.L358L|NLRX1_uc001pvx.2_Silent_p.L358L|NLRX1_uc010rzc.1_Nonsense_Mutation_p.E181*|NLRX1_uc001pvv.2_Nonsense_Mutation_p.E359*|NLRX1_uc001pvw.2_Nonsense_Mutation_p.E359*|NLRX1_uc001pvx.2_Nonsense_Mutation_p.E359*	p.L358L|p.E359*	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1289|1290	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	358|359			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent|Nonsense_Mutation	SNP	ENST00000409109.1	37	c.1074G>T|c.1075G>T	CCDS8416.1																																																																																				PASS	0.639	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		78|75	56	75	56	---	---	---	---
OAF	220323	broad.mit.edu	37	11	120096498	120096498	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:120096498C>T	ENST00000328965.4	+	2	873	c.360C>T	c.(358-360)ctC>ctT	p.L120L	OAF_ENST00000531220.1_Silent_p.L4L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	120						extracellular vesicular exosome (GO:0070062)		p.L120L(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TGGCCAAGCTCCGGCAGGTAA	0.657																																						uc001pxb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)CTC>CTT		OAF homolog precursor							103.0	101.0	102.0					11																	120096498		2203	4300	6503	SO:0001819	synonymous_variant	220323							g.chr11:120096498C>T	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.360C>T	11.37:g.120096498C>T							p.L120L	NM_178507	NP_848602	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	2	601	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	120						Silent	SNP	ENST00000328965.4	37	c.360C>T	CCDS8430.1																																																																																				PASS	0.657	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		42	107	42	107	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121028649	121028649	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:121028649G>C	ENST00000392793.1	+	14	4676	c.4405G>C	c.(4405-4407)Gag>Cag	p.E1469Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E1469Q			O75443	TECTA_HUMAN	tectorin alpha	1469					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E1469Q(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAGACGAGGAGTGTGCGCT	0.662																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4405-4407)GAG>CAG		tectorin alpha precursor							43.0	42.0	42.0					11																	121028649		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028649G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4405G>C	11.37:g.121028649G>C	ENSP00000376543:p.Glu1469Gln						p.E1469Q	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4405	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1469						Missense_Mutation	SNP	ENST00000392793.1	37	c.4405G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383994	0.82792	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04706	3.57;3.57	5.55	4.63	0.57726	VWC out (1);	0.062767	0.64402	D	0.000006	T	0.07773	0.0195	L	0.31926	0.97	0.42950	D	0.994378	P	0.35481	0.504	P	0.45610	0.487	T	0.46190	-0.9209	10	0.28530	T	0.3	.	13.8013	0.63202	0.0736:0.0:0.9264:0.0	.	1469	O75443	TECTA_HUMAN	Q	1469	ENSP00000376543:E1469Q;ENSP00000264037:E1469Q	ENSP00000264037:E1469Q	E	+	1	0	TECTA	120533859	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.719000	0.74718	2.600000	0.87896	0.462000	0.41574	GAG		PASS	0.662	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		4	80	4	80	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900989	123900989	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:123900989C>G	ENST00000431524.1	+	1	693	c.660C>G	c.(658-660)atC>atG	p.I220M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I220M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGTGTCCATCGTCTGTTCCA	0.542																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(658-660)ATC>ATG		olfactory receptor, family 10, subfamily G,							171.0	147.0	155.0					11																	123900989		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900989C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.660C>G	11.37:g.123900989C>G	ENSP00000389072:p.Ile220Met						p.I220M	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	660	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.660C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	6.280	0.419726	0.11928	.	.	ENSG00000234560	ENST00000431524	T	0.00411	7.53	2.91	-3.33	0.04958	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.01870	0.0059	H	0.98769	4.325	0.26449	N	0.975644	D	0.55605	0.972	D	0.66847	0.947	T	0.01945	-1.1242	10	0.87932	D	0	.	12.9575	0.58438	0.0:0.7576:0.0:0.2424	.	220	Q8NGN5	O10G8_HUMAN	M	220	ENSP00000389072:I220M	ENSP00000389072:I220M	I	+	3	3	OR10G8	123406199	0.000000	0.05858	0.178000	0.23040	0.008000	0.06430	-1.716000	0.01878	-0.850000	0.04152	-1.298000	0.01336	ATC		PASS	0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		33	91	33	91	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294594	124294594	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:124294594G>T	ENST00000356130.3	-	1	195	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAAGTACATGGGGGTGTGAA	0.408																																						uc010sak.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(172-174)CCC>CCA		olfactory receptor, family 8, subfamily B,							82.0	79.0	80.0					11																	124294594		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294594G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.174C>A	11.37:g.124294594G>T							p.P58P	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	174	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58			Helical; Name=2; (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.174C>A	CCDS31710.1																																																																																				PASS	0.408	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		20	45	20	45	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294596	124294596	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:124294596G>C	ENST00000356130.3	-	1	193	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58A(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGTACATGGGGGTGTGAAGG	0.413																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(172-174)CCC>GCC		olfactory receptor, family 8, subfamily B,							82.0	78.0	80.0					11																	124294596		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294596G>C	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.172C>G	11.37:g.124294596G>C	ENSP00000348449:p.Pro58Ala						p.P58A	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	172	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58			Helical; Name=2; (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.172C>G	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.273598	0.80580	.	.	ENSG00000198657	ENST00000356130	T	0.02015	4.5	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.18759	0.0450	M	0.92412	3.305	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.04440	-1.0951	10	0.72032	D	0.01	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	58	Q96RC9	OR8B4_HUMAN	A	58	ENSP00000348449:P58A	ENSP00000348449:P58A	P	-	1	0	OR8B4	123799806	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.103000	0.64578	2.564000	0.86499	0.655000	0.94253	CCC		PASS	0.413	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		20	45	20	45	---	---	---	---
BARX2	8538	broad.mit.edu	37	11	129321282	129321282	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:129321282C>A	ENST00000281437.4	+	4	921	c.825C>A	c.(823-825)ccC>ccA	p.P275P	BARX2_ENST00000526127.1_Silent_p.P130P|BARX2_ENST00000531946.1_Silent_p.P153P	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	275					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.P275P(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CTTCGGAACCCCCACCATTAA	0.537																																						uc001qfc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)CCC>CCA		BarH-like homeobox 2							43.0	47.0	46.0					11																	129321282		2201	4296	6497	SO:0001819	synonymous_variant	8538							g.chr11:129321282C>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.825C>A	11.37:g.129321282C>A							p.P275P	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	875	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	275					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.825C>A	CCDS8481.1																																																																																				PASS	0.537	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		34	23	34	23	---	---	---	---
ST14	6768	broad.mit.edu	37	11	130064581	130064581	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:130064581C>T	ENST00000278742.5	+	9	1480	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	354	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P354P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAACAGCCCCTACTACCCAG	0.567																																						uc001qfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1060-1062)CCC>CCT		matriptase	Urokinase(DB00013)						208.0	135.0	160.0					11																	130064581		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130064581C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1062C>T	11.37:g.130064581C>T						ST14_uc010sca.1_Silent_p.P164P	p.P354P	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	9	1255	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	354			CUB 2.|Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1062C>T	CCDS8487.1																																																																																				PASS	0.567	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			40	28	40	28	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	332341	332341	+	Silent	SNP	C	C	A	rs200967417		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:332341C>A	ENST00000343164.4	-	12	1423	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.L365L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	457					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L457L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGGCCACGAACAGGAGGCACA	0.522																																						uc001qic.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1369-1371)CTG>CTT		solute carrier family 6 (neurotransmitter							151.0	123.0	132.0					12																	332341		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:332341C>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1371G>T	12.37:g.332341C>A						SLC6A13_uc009zdj.1_Silent_p.L447L|SLC6A13_uc010sdl.1_Silent_p.L365L	p.L457L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1424	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		457			Helical; Name=10; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1371G>T	CCDS8502.1																																																																																				PASS	0.522	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		27	25	27	25	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1949924	1949924	+	Missense_Mutation	SNP	C	C	G	rs369000289		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:1949924C>G	ENST00000382722.5	-	26	2894	c.2532G>C	c.(2530-2532)aaG>aaC	p.K844N	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.K780N|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.K780N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.K705N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.K844N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.K819N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	844					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K844N(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGCTGTCCTCTTGTCCACGG	0.582																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2530-2532)AAG>AAC		voltage-gated calcium channel alpha(2)delta-4							71.0	78.0	76.0					12																	1949924		2156	4247	6403	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1949924C>G	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2532G>C	12.37:g.1949924C>G	ENSP00000372169:p.Lys844Asn					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.K708N|CACNA2D4_uc009zdr.1_RNA	p.K844N	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	26	2763	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	844			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2532G>C	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	8.949	0.967795	0.18659	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.70282	-0.47	4.97	3.07	0.35406	.	1.470560	0.03471	N	0.213636	T	0.60971	0.2310	L	0.31065	0.9	0.22401	N	0.999133	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.002	T	0.41288	-0.9517	10	0.23302	T	0.38	.	8.6443	0.33996	0.0:0.435:0.4795:0.0855	.	844;844	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	N	780;844;844	ENSP00000372169:K844N	ENSP00000280663:K844N	K	-	3	2	CACNA2D4	1820185	0.981000	0.34729	0.957000	0.39632	0.950000	0.60333	2.192000	0.42649	0.469000	0.27268	0.555000	0.69702	AAG		PASS	0.582	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			18	150	18	150	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640016	7640016	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:7640016A>G	ENST00000359156.4	-	8	2191	c.1989T>C	c.(1987-1989)ccT>ccC	p.P663P	CD163_ENST00000396620.3_Silent_p.P696P|CD163_ENST00000432237.2_Silent_p.P663P|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.P651P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	663	SRCR 6. {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.P663P(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)	GAGCAGTTACAGGACAATCTC	0.498																																						uc001qsz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1987-1989)CCT>CCC		CD163 antigen isoform a							115.0	100.0	105.0					12																	7640016		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640016A>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.1989T>C	12.37:g.7640016A>G						CD163_uc001qta.3_Silent_p.P663P|CD163_uc009zfw.2_Silent_p.P696P	p.P663P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	2117	-			663			SRCR 6.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.1989T>C	CCDS8578.1																																																																																				PASS	0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		62	48	62	48	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	rs147980423		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M|CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I213M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353																																						uc001qtg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(637-639)ATA>ATG		C-type lectin domain family 4, member C isoform		T	MET/ILE,MET/ILE	1,4405	2.1+/-5.4	0,1,2202	102.0	95.0	97.0		639,546	0.4	0.8	12	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	10,10	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	213/214,182/183	7882195	1,13005	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882195T>C	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.639A>G	12.37:g.7882195T>C	ENSP00000440428:p.Ile213Met					CLEC4C_uc001qth.1_Missense_Mutation_p.I213M|CLEC4C_uc001qti.1_Missense_Mutation_p.I182M	p.I213M	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	6	813	-			213			Extracellular (Potential).		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.639A>G	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963293	0.18583	2.27E-4	0.0	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02579	4.31;4.24;4.24;4.31	1.66	0.398	0.16319	.	.	.	.	.	T	0.03178	0.0093	N	0.22421	0.69	0.20074	N	0.999931	B;D	0.53312	0.399;0.959	B;P	0.49301	0.057;0.606	T	0.45934	-0.9227	9	0.72032	D	0.01	.	4.4536	0.11633	0.0:0.0:0.3502:0.6498	.	182;213	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	M	213;182;182;213	ENSP00000440428:I213M;ENSP00000346648:I182M;ENSP00000445338:I182M;ENSP00000353500:I213M	ENSP00000346648:I182M	I	-	3	3	CLEC4C	7773462	0.182000	0.23173	0.766000	0.31476	0.049000	0.14656	-0.112000	0.10791	0.101000	0.17610	0.418000	0.28097	ATA		PASS	0.353	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		127	64	127	64	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14650888	14650888	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:14650888C>G	ENST00000540793.1	+	14	3849	c.3694C>G	c.(3694-3696)Cag>Gag	p.Q1232E	ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1232E|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1231E|ATF7IP_ENST00000544627.1_Missense_Mutation_p.Q1240E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1232	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.Q1232E(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACTCTCACCCAGTTTGTATC	0.473																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3694-3696)CAG>GAG		activating transcription factor 7 interacting							145.0	127.0	133.0					12																	14650888		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650888C>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3694C>G	12.37:g.14650888C>G	ENSP00000444589:p.Gln1232Glu					ATF7IP_uc001rbx.2_Missense_Mutation_p.Q1231E|ATF7IP_uc001rby.3_Missense_Mutation_p.Q1232E|ATF7IP_uc001rca.2_Missense_Mutation_p.Q1232E	p.Q1232E	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			15	3852	+			1232			Interaction with MBD1.|Fibronectin type-III.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3694C>G	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651146	0.88056	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.58495	0.2126	M	0.70595	2.14	0.80722	D	1	D;D	0.58268	0.982;0.982	D;D	0.70227	0.968;0.968	T	0.56932	-0.7897	10	0.87932	D	0	-7.8904	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1231;1232	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	E	1232;1231;1240;1232	ENSP00000261168:Q1232E;ENSP00000445955:Q1231E;ENSP00000440440:Q1240E;ENSP00000444589:Q1232E	ENSP00000261168:Q1232E	Q	+	1	0	ATF7IP	14542155	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.813000	0.86123	2.894000	0.99253	0.655000	0.94253	CAG		PASS	0.473	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		6	293	6	293	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14650988	14650988	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:14650988C>G	ENST00000540793.1	+	14	3949	c.3794C>G	c.(3793-3795)tCt>tGt	p.S1265C	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S1265C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S1264C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S1273C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1265	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.S1265C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGTGATCTCTTCTACCCAG	0.393																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3793-3795)TCT>TGT		activating transcription factor 7 interacting							158.0	165.0	163.0					12																	14650988		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650988C>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3794C>G	12.37:g.14650988C>G	ENSP00000444589:p.Ser1265Cys					ATF7IP_uc001rbx.2_Missense_Mutation_p.S1264C|ATF7IP_uc001rby.3_Missense_Mutation_p.S1265C|ATF7IP_uc001rca.2_Missense_Mutation_p.S1265C	p.S1265C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			15	3952	+			1265			Interaction with MBD1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3794C>G	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499568	0.64298	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000006	T	0.44808	0.1311	L	0.34521	1.04	0.44214	D	0.997047	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.27739	-1.0065	10	0.87932	D	0	-12.3849	18.8088	0.92050	0.0:1.0:0.0:0.0	.	1264;1265	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	C	1265;1264;1273;1265	ENSP00000261168:S1265C;ENSP00000445955:S1264C;ENSP00000440440:S1273C;ENSP00000444589:S1265C	ENSP00000261168:S1265C	S	+	2	0	ATF7IP	14542255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.621000	0.83083	2.871000	0.98454	0.655000	0.94253	TCT		PASS	0.393	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		11	671	11	671	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15654883	15654883	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:15654883G>C	ENST00000281171.4	+	5	1321	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	PTPRO_ENST00000543886.1_Missense_Mutation_p.E331Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E331Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	331	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.E331Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGTGAGACAGAGAAGTCAAC	0.443																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(991-993)GAG>CAG		receptor-type protein tyrosine phosphatase O							97.0	80.0	86.0					12																	15654883		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654883G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.991G>C	12.37:g.15654883G>C	ENSP00000281171:p.Glu331Gln					PTPRO_uc001rcw.1_Missense_Mutation_p.E331Q|PTPRO_uc001rcu.1_Missense_Mutation_p.E331Q	p.E331Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	1165	+		Hepatocellular(102;0.244)	331			Fibronectin type-III 4.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.991G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075949	0.36662	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03889	3.77;3.77	4.29	3.36	0.38483	Fibronectin, type III (1);	0.155060	0.29616	N	0.011660	T	0.03695	0.0105	N	0.14661	0.345	0.80722	D	1	P;P;P	0.43826	0.51;0.576;0.818	B;B;B	0.40864	0.204;0.135;0.342	T	0.58098	-0.7696	10	0.36615	T	0.2	.	12.2256	0.54457	0.0:0.1716:0.8284:0.0	.	331;331;331	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	Q	331	ENSP00000281171:E331Q;ENSP00000343434:E331Q	ENSP00000281171:E331Q	E	+	1	0	PTPRO	15546150	0.988000	0.35896	0.288000	0.24862	0.908000	0.53690	2.082000	0.41605	0.965000	0.38133	0.655000	0.94253	GAG		PASS	0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			14	161	14	161	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20801636	20801636	+	Silent	SNP	C	C	T	rs377609726		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:20801636C>T	ENST00000359062.3	+	13	2620	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	860	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.N860N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCTATATAACGATCGTTCAG	0.368																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2578-2580)AAC>AAT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	T		1,4405	2.1+/-5.4	0,1,2202	131.0	126.0	128.0		2580	-4.0	1.0	12		128	0,8600		0,0,4300	no	coding-synonymous	PDE3A	NM_000921.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		860/1142	20801636	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801636C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2580C>T	12.37:g.20801636C>T							p.N860N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			13	2602	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	860			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2580C>T	CCDS31754.1																																																																																				PASS	0.368	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			121	146	121	146	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20854340	20854340	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:20854340G>T	ENST00000266509.2	+	3	586	c.218G>T	c.(217-219)aGg>aTg	p.R73M	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73M|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73M|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73M	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R73M(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATAGAGAGAAGGTTTGATATC	0.398																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(217-219)AGG>ATG		solute carrier organic anion transporter family,							219.0	177.0	191.0					12																	20854340		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854340G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.218G>T	12.37:g.20854340G>T	ENSP00000266509:p.Arg73Met					SLCO1C1_uc010sii.1_Missense_Mutation_p.R73M|SLCO1C1_uc010sij.1_Missense_Mutation_p.R73M|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.R73M|SLCO1C1_uc010sik.1_Intron	p.R73M	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			4	573	+	Esophageal squamous(101;0.149)		73			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.218G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678346	0.88542	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	H	0.95611	3.695	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.87153	0.2210	10	0.87932	D	0	.	18.682	0.91549	0.0:0.0:1.0:0.0	.	73;73;73	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	M	73	ENSP00000444149:R73M;ENSP00000438665:R73M;ENSP00000266509:R73M;ENSP00000370964:R73M	ENSP00000266509:R73M	R	+	2	0	SLCO1C1	20745607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.652000	0.90054	0.655000	0.94253	AGG		PASS	0.398	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		136	150	136	150	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20890111	20890111	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:20890111A>C	ENST00000266509.2	+	11	1821	c.1453A>C	c.(1453-1455)Aca>Cca	p.T485P	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.T436P|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.T367P|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.T485P|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.T485P	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	485	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T485P(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATGTTCAGAGACAAAATGGGA	0.363																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1453-1455)ACA>CCA		solute carrier organic anion transporter family,							102.0	94.0	96.0					12																	20890111		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890111A>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1453A>C	12.37:g.20890111A>C	ENSP00000266509:p.Thr485Pro					SLCO1C1_uc010sii.1_Missense_Mutation_p.T485P|SLCO1C1_uc010sij.1_Missense_Mutation_p.T436P|SLCO1C1_uc009zip.2_Missense_Mutation_p.T319P|SLCO1C1_uc001rei.2_Missense_Mutation_p.T485P|SLCO1C1_uc010sik.1_Missense_Mutation_p.T367P	p.T485P	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			12	1808	+	Esophageal squamous(101;0.149)		485			Extracellular (Potential).|Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1453A>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281803	0.59758	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.02	2.55	0.30701	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.452263	0.27134	N	0.020776	T	0.10121	0.0248	M	0.62723	1.935	0.29269	N	0.870805	P;B;P;B	0.40875	0.731;0.33;0.62;0.33	B;B;P;B	0.49451	0.395;0.435;0.611;0.435	T	0.02868	-1.1100	10	0.33940	T	0.23	.	9.1675	0.37060	0.6991:0.0:0.0:0.3009	.	367;436;485;485	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	P	485;436;485;485;367	ENSP00000444149:T485P;ENSP00000438665:T436P;ENSP00000266509:T485P;ENSP00000370964:T485P;ENSP00000444527:T367P	ENSP00000266509:T485P	T	+	1	0	SLCO1C1	20781378	0.467000	0.25831	1.000000	0.80357	0.991000	0.79684	2.996000	0.49449	0.424000	0.26061	-0.344000	0.07964	ACA		PASS	0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		115	54	115	54	---	---	---	---
ETNK1	55500	broad.mit.edu	37	12	22826547	22826547	+	Missense_Mutation	SNP	G	G	A	rs34032941		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:22826547G>A	ENST00000266517.4	+	6	1254	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	389					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.E389K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGTTACTGAAAAGGAGGT	0.368																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)GAA>AAA		ethanolamine kinase 1 isoform A							98.0	99.0	99.0					12																	22826547		2203	4300	6503	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22826547G>A	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.1165G>A	12.37:g.22826547G>A	ENSP00000266517:p.Glu389Lys					ETNK1_uc009ziz.2_Missense_Mutation_p.E389K	p.E389K	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			6	1187	+			389					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.1165G>A	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455647	0.63401	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.60424	0.19	5.0	5.0	0.66597	Protein kinase-like domain (1);	0.178310	0.49916	D	0.000137	T	0.53286	0.1787	L	0.49256	1.55	0.80722	D	1	B;B	0.29716	0.255;0.107	B;B	0.29862	0.108;0.039	T	0.51348	-0.8717	10	0.33141	T	0.24	-6.882	16.6501	0.85187	0.0:0.0:1.0:0.0	.	389;389	E9PD44;Q9HBU6	.;EKI1_HUMAN	K	389	ENSP00000266517:E389K	ENSP00000266517:E389K	E	+	1	0	ETNK1	22717814	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.725000	0.68507	2.590000	0.87494	0.585000	0.79938	GAA		PASS	0.368	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		32	220	32	220	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30884403	30884403	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:30884403C>A	ENST00000308433.5	-	0	1601				CAPRIN2_ENST00000417045.1_Missense_Mutation_p.G312C|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.G312C|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.G312C|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.G312C					caprin family member 2									p.G312C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAATAGCCTGAGTTCAGC	0.348																																						uc001rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(934-936)GGC>TGC		C1q domain containing 1 isoform 1							118.0	112.0	114.0					12																	30884403		2203	4300	6503			65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30884403C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000308433.5:c.-66G>T	12.37:g.30884403C>A						CAPRIN2_uc001rjf.1_Missense_Mutation_p.G109C|CAPRIN2_uc001rjg.1_Translation_Start_Site|CAPRIN2_uc001rjh.1_Missense_Mutation_p.G312C|CAPRIN2_uc001rjj.1_Translation_Start_Site|CAPRIN2_uc001rjk.3_Missense_Mutation_p.G312C|CAPRIN2_uc001rjl.3_Missense_Mutation_p.G312C|CAPRIN2_uc001rjm.1_Translation_Start_Site|CAPRIN2_uc001rjn.1_Translation_Start_Site	p.G312C	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			6	1685	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		312						Missense_Mutation	SNP	ENST00000308433.5	37	c.934G>T		.	.	.	.	.	.	.	.	.	.	C	19.31	3.803507	0.70682	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.23147	2.15;1.92;1.92;1.92;1.92;1.92	5.43	3.61	0.41365	.	0.271744	0.36555	N	0.002531	T	0.45155	0.1328	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.997;0.995	T	0.34775	-0.9815	10	0.87932	D	0	-2.6076	10.0297	0.42092	0.0:0.8447:0.0:0.1553	.	312;312;312;312;312	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	C	58;312;312;312;312;38;231	ENSP00000415407:G58C;ENSP00000298892:G312C;ENSP00000379150:G312C;ENSP00000251071:G312C;ENSP00000391479:G312C;ENSP00000438010:G231C	ENSP00000251071:G312C	G	-	1	0	CAPRIN2	30775670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.981000	0.40628	0.662000	0.31006	0.650000	0.86243	GGC		PASS	0.348	CAPRIN2-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_023925		46	162	46	162	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45173518	45173518	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:45173518C>A	ENST00000429094.2	-	5	1038	c.534G>T	c.(532-534)aaG>aaT	p.K178N	NELL2_ENST00000551601.1_Missense_Mutation_p.K177N|NELL2_ENST00000452445.2_Missense_Mutation_p.K178N|NELL2_ENST00000437801.2_Missense_Mutation_p.K228N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.K177N|NELL2_ENST00000333837.4_Missense_Mutation_p.K201N|NELL2_ENST00000549027.1_Missense_Mutation_p.K177N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	178	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K178N(1)|p.K228N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTGTGGAGGGCTTTTCTACTA	0.378																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(532-534)AAG>AAT		NEL-like protein 2 isoform b precursor							83.0	81.0	82.0					12																	45173518		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173518C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.534G>T	12.37:g.45173518C>A	ENSP00000390680:p.Lys178Asn					NELL2_uc001rof.3_Missense_Mutation_p.K177N|NELL2_uc001roh.2_Missense_Mutation_p.K178N|NELL2_uc009zkd.2_Missense_Mutation_p.K177N|NELL2_uc010skz.1_Missense_Mutation_p.K228N|NELL2_uc010sla.1_Missense_Mutation_p.K201N|NELL2_uc001roi.1_Missense_Mutation_p.K178N|NELL2_uc010slb.1_Missense_Mutation_p.K177N|NELL2_uc001roj.2_Missense_Mutation_p.K178N	p.K178N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	5	1129	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	178			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.534G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592787	0.28357	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.48	2.22	0.28083	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.211120	0.48767	D	0.000162	T	0.61110	0.2321	N	0.12182	0.205	0.33175	D	0.548867	B;B;B;B;B;B	0.31459	0.324;0.001;0.0;0.022;0.0;0.001	B;B;B;B;B;B	0.35813	0.211;0.005;0.001;0.053;0.001;0.003	T	0.66056	-0.6018	10	0.40728	T	0.16	-10.9705	10.3986	0.44216	0.0:0.7033:0.0:0.2967	.	201;228;177;178;178;177	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	N	177;178;177;178;177;201;228;177;178	ENSP00000378866:K177N;ENSP00000390680:K178N;ENSP00000449332:K177N;ENSP00000394612:K178N;ENSP00000447927:K177N;ENSP00000327988:K201N;ENSP00000416341:K228N;ENSP00000447085:K178N	ENSP00000327988:K201N	K	-	3	2	NELL2	43459785	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.453000	0.21811	0.687000	0.31509	-0.142000	0.14014	AAG		PASS	0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		53	104	53	104	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45567332	45567332	+	RNA	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:45567332C>T	ENST00000256692.5	-	0	1353					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.E273K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCTCCACTTCGTGCAGCACT	0.413																																						uc001rom.1																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GAA>AAA		pleckstrin homology domain containing, family A							81.0	82.0	81.0					12																	45567332		2203	4297	6500			51054							g.chr12:45567332C>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567332C>T						PLEKHA9_uc009zke.2_Missense_Mutation_p.E273K	p.E273K	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1354	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.817G>A																																																																																					PASS	0.413	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		31	145	31	145	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123697	46123697	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:46123697C>G	ENST00000334344.6	+	1	250	c.78C>G	c.(76-78)ttC>ttG	p.F26L	ARID2_ENST00000422737.1_5'Flank|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	26	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.F26L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCGGCAGTTCCACCACAGCA	0.672			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(76-78)TTC>TTG		AT rich interactive domain 2 (ARID, RFX-like)							15.0	19.0	18.0					12																	46123697		2176	4292	6468	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123697C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.78C>G	12.37:g.46123697C>G	ENSP00000335044:p.Phe26Leu					ARID2_uc001ror.2_Missense_Mutation_p.F26L|LOC400027_uc001roq.2_5'Flank	p.F26L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	1	78	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	26			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.78C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883280	0.51908	.	.	ENSG00000189079	ENST00000334344	T	0.75821	-0.97	2.42	2.42	0.29668	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	U	0.000010	T	0.80681	0.4669	M	0.69185	2.1	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.79125	-0.1932	10	0.72032	D	0.01	.	5.9413	0.19194	0.0:0.7446:0.0:0.2554	.	26	Q68CP9	ARID2_HUMAN	L	26	ENSP00000335044:F26L	ENSP00000335044:F26L	F	+	3	2	ARID2	44409964	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.876000	0.39588	0.868000	0.35678	0.186000	0.17326	TTC		PASS	0.672	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	34	7	34	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46244950	46244950	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:46244950A>C	ENST00000334344.6	+	15	3216	c.3044A>C	c.(3043-3045)cAg>cCg	p.Q1015P	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.Q866P|ARID2_ENST00000444670.1_Missense_Mutation_p.Q625P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1015	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.Q1015P(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAACAGCAGCAACATTCA	0.507			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3043-3045)CAG>CCG		AT rich interactive domain 2 (ARID, RFX-like)							194.0	149.0	164.0					12																	46244950		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244950A>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3044A>C	12.37:g.46244950A>C	ENSP00000335044:p.Gln1015Pro					ARID2_uc001ror.2_Missense_Mutation_p.Q1015P|ARID2_uc009zkg.1_Missense_Mutation_p.Q471P|ARID2_uc009zkh.1_Missense_Mutation_p.Q642P|ARID2_uc001rou.1_Missense_Mutation_p.Q349P	p.Q1015P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3044	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1015			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3044A>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	8.877	0.950646	0.18431	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.43294	0.95	5.75	5.75	0.90469	.	0.062767	0.64402	D	0.000004	T	0.32793	0.0841	L	0.27053	0.805	0.80722	D	1	B;B;B	0.28082	0.039;0.2;0.057	B;B;B	0.24155	0.023;0.051;0.015	T	0.09862	-1.0655	10	0.49607	T	0.09	-3.6132	15.7175	0.77681	1.0:0.0:0.0:0.0	.	1015;625;1015	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	P	1015;132;132;866;625	ENSP00000335044:Q1015P	ENSP00000335044:Q1015P	Q	+	2	0	ARID2	44531217	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.507000	0.90522	2.198000	0.70561	0.379000	0.24179	CAG		PASS	0.507	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		22	93	22	93	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48251014	48251014	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:48251014C>T	ENST00000395324.2	-	6	749	c.481G>A	c.(481-483)Gat>Aat	p.D161N	VDR_ENST00000535672.1_Missense_Mutation_p.D129N|VDR_ENST00000549336.1_Missense_Mutation_p.D161N|VDR_ENST00000550325.1_Missense_Mutation_p.D211N|VDR_ENST00000229022.3_Missense_Mutation_p.D161N			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	161	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D161N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCTCCACCATCATTCACACGA	0.552																																						uc001rqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(481-483)GAT>AAT		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						107.0	88.0	94.0					12																	48251014		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251014C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.481G>A	12.37:g.48251014C>T	ENSP00000378734:p.Asp161Asn					VDR_uc001rql.2_Missense_Mutation_p.D211N|VDR_uc001rqn.2_Missense_Mutation_p.D161N|VDR_uc010slq.1_Missense_Mutation_p.D129N	p.D161N	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	7	763	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	161			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.481G>A	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725882	0.15439	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.37	3.48	0.39840	Nuclear hormone receptor, ligand-binding (1);	1.435280	0.04229	N	0.334890	D	0.87354	0.6156	N	0.08118	0	0.09310	N	1	B;B;B	0.22541	0.0;0.037;0.071	B;B;B	0.26094	0.003;0.039;0.066	T	0.77351	-0.2620	10	0.10902	T	0.67	.	8.2179	0.31524	0.0:0.8904:0.0:0.1096	.	129;161;211	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	N	161;161;161;211;129;161	ENSP00000378734:D161N;ENSP00000229022:D161N;ENSP00000449573:D161N;ENSP00000447173:D211N;ENSP00000442145:D129N;ENSP00000448659:D161N	ENSP00000229022:D161N	D	-	1	0	VDR	46537281	0.002000	0.14202	0.005000	0.12908	0.064000	0.16182	0.851000	0.27751	1.190000	0.43042	0.491000	0.48974	GAT		PASS	0.552	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			8	56	8	56	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48251018	48251018	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:48251018C>G	ENST00000395324.2	-	6	745	c.477G>C	c.(475-477)gtG>gtC	p.V159V	VDR_ENST00000535672.1_Silent_p.V127V|VDR_ENST00000549336.1_Silent_p.V159V|VDR_ENST00000550325.1_Silent_p.V209V|VDR_ENST00000229022.3_Silent_p.V159V			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	159	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V159V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CACCATCATTCACACGAACTG	0.552																																						uc001rqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(475-477)GTG>GTC		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						104.0	86.0	92.0					12																	48251018		2203	4300	6503	SO:0001819	synonymous_variant	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251018C>G	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.477G>C	12.37:g.48251018C>G						VDR_uc001rql.2_Silent_p.V209V|VDR_uc001rqn.2_Silent_p.V159V|VDR_uc010slq.1_Silent_p.V127V	p.V159V	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	7	759	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	159			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.477G>C	CCDS8757.1																																																																																				PASS	0.552	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			8	53	8	53	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49439860	49439860	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:49439860C>G	ENST00000301067.7	-	17	4680	c.4681G>C	c.(4681-4683)Gta>Cta	p.V1561L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1561					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V1288L(1)|p.V1561L(1)									ACAGGCTTTACCACGTAGGGC	0.592																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4681-4683)GTA>CTA		myeloid/lymphoid or mixed-lineage leukemia 2							44.0	51.0	49.0					12																	49439860		2071	4204	6275	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49439860C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4681G>C	12.37:g.49439860C>G	ENSP00000301067:p.Val1561Leu	HNSCC(34;0.089)					p.V1561L	NM_003482	NP_003473	O14686	MLL2_HUMAN			17	4681	-			1561					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4681G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174576	0.21704	.	.	ENSG00000167548	ENST00000301067	T	0.62105	0.05	5.39	1.95	0.26073	Zinc finger, FYVE/PHD-type (1);	0.467249	0.15979	N	0.235368	T	0.46600	0.1401	L	0.31926	0.97	0.19300	N	0.999973	B	0.16166	0.016	B	0.12837	0.008	T	0.41645	-0.9497	10	0.87932	D	0	.	5.5458	0.17063	0.0:0.5805:0.1387:0.2807	.	1561	O14686	MLL2_HUMAN	L	1561	ENSP00000301067:V1561L	ENSP00000301067:V1561L	V	-	1	0	MLL2	47726127	0.989000	0.36119	0.121000	0.21740	0.856000	0.48823	0.939000	0.28978	0.179000	0.19938	0.655000	0.94253	GTA		PASS	0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	16	3	16	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49441824	49441824	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:49441824C>A	ENST00000301067.7	-	14	4159	c.4160G>T	c.(4159-4161)gGc>gTc	p.G1387V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1387					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1114V(1)|p.G1387A(1)|p.G1387V(1)|p.G1114A(1)									TGCCCCCCGGCCAAAGCTGCC	0.547																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		4	Substitution - Missense(4)		lung(2)|endometrium(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4159-4161)GGC>GTC		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	71.0	68.0					12																	49441824		2042	4184	6226	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49441824C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4160G>T	12.37:g.49441824C>A	ENSP00000301067:p.Gly1387Val	HNSCC(34;0.089)					p.G1387V	NM_003482	NP_003473	O14686	MLL2_HUMAN			14	4160	-			1387			PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4160G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061547	0.55432	.	.	ENSG00000167548	ENST00000301067	D	0.87571	-2.27	5.83	5.83	0.93111	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.37577	N	0.002040	D	0.93746	0.8001	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93894	0.7182	10	0.87932	D	0	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	1387	O14686	MLL2_HUMAN	V	1387	ENSP00000301067:G1387V	ENSP00000301067:G1387V	G	-	2	0	MLL2	47728091	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.763000	0.94921	0.563000	0.77884	GGC		PASS	0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			18	71	18	71	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52115631	52115631	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:52115631A>C	ENST00000354534.6	+	12	2115	c.1937A>C	c.(1936-1938)aAc>aCc	p.N646T	SCN8A_ENST00000545061.1_Missense_Mutation_p.N646T|SCN8A_ENST00000550891.1_Missense_Mutation_p.N646T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	646					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.N646T(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTGGACTGCAACGGCGTGGTG	0.652																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(1936-1938)AAC>ACC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						37.0	43.0	41.0					12																	52115631		2028	4146	6174	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115631A>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1937A>C	12.37:g.52115631A>C	ENSP00000346534:p.Asn646Thr					SCN8A_uc010snl.1_Missense_Mutation_p.N511T|SCN8A_uc001ryx.1_Missense_Mutation_p.N511T|SCN8A_uc001ryz.1_Missense_Mutation_p.N511T|SCN8A_uc001ryy.2_Missense_Mutation_p.N511T	p.N646T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	2115	+			646					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1937A>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254611	0.80135	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	3.9	3.9	0.45041	Domain of unknown function DUF3451 (1);	0.055260	0.64402	D	0.000001	D	0.97167	0.9074	M	0.87269	2.87	0.80722	D	1	D;P;D;D	0.89917	0.997;0.874;0.989;1.0	D;P;D;D	0.79108	0.979;0.546;0.969;0.992	D	0.97633	1.0143	10	0.66056	D	0.02	.	13.21	0.59819	1.0:0.0:0.0:0.0	.	646;646;646;646	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	T	646;646;646;646;559;444	ENSP00000448415:N646T;ENSP00000346534:N646T;ENSP00000440360:N646T;ENSP00000347255:N646T;ENSP00000447567:N444T	ENSP00000346534:N646T	N	+	2	0	SCN8A	50401898	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	7.173000	0.77612	1.761000	0.52028	0.383000	0.25322	AAC		PASS	0.652	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	93	4	93	---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52306283	52306283	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:52306283G>C	ENST00000388922.4	+	2	308	c.25G>C	c.(25-27)Ggc>Cgc	p.G9R	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G23R|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G23R	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	9					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.G9R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCCAGGAAAGGCCTTCTGAT	0.592																																						uc001rzj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(25-27)GGC>CGC		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						71.0	59.0	63.0					12																	52306283		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52306283G>C	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.25G>C	12.37:g.52306283G>C	ENSP00000373574:p.Gly9Arg					ACVRL1_uc001rzk.2_Missense_Mutation_p.G9R|ACVRL1_uc010snm.1_Missense_Mutation_p.G23R	p.G9R	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	2	308	+			9					A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.25G>C	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	2.194	-0.384578	0.04966	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.91577	-1.98;-2.87;-2.87;-2.13	5.28	-0.979	0.10276	.	0.560545	0.14949	N	0.289037	T	0.73521	0.3597	N	0.08118	0	0.09310	N	1	B;B	0.28512	0.141;0.214	B;B	0.26517	0.013;0.07	T	0.62623	-0.6815	10	0.21014	T	0.42	.	3.1585	0.06512	0.3512:0.0:0.3499:0.2989	.	23;9	E7EN07;P37023	.;ACVL1_HUMAN	R	9;9;23;23;23;23	ENSP00000373574:G9R;ENSP00000446724:G23R;ENSP00000447884:G23R;ENSP00000392492:G23R	ENSP00000267008:G9R	G	+	1	0	ACVRL1	50592550	0.203000	0.23435	0.000000	0.03702	0.027000	0.11550	0.415000	0.21181	-0.382000	0.07870	-0.152000	0.13540	GGC		PASS	0.592	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			9	69	9	69	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53823264	53823264	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:53823264G>A	ENST00000257863.4	+	8	1075	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	AMHR2_ENST00000550311.1_Missense_Mutation_p.R332Q|AMHR2_ENST00000379791.3_Missense_Mutation_p.R332Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R332Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ATTGCCCACCGAGATCTGAGC	0.522																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(994-996)CGA>CAA		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						95.0	90.0	92.0					12																	53823264		2203	4300	6503	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823264G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.995G>A	12.37:g.53823264G>A	ENSP00000257863:p.Arg332Gln					AMHR2_uc009zmy.1_Missense_Mutation_p.R332Q	p.R332Q	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			8	1073	+			332			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.995G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050775	0.93740	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.96745	-4.11;-4.11;-4.11	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32041	N	0.006674	D	0.98639	0.9544	H	0.95917	3.74	0.42190	D	0.991723	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.99250	1.0887	10	0.87932	D	0	.	13.98	0.64299	0.0:0.0:1.0:0.0	.	332;332	F8W1D2;Q16671	.;AMHR2_HUMAN	Q	332	ENSP00000257863:R332Q;ENSP00000446661:R332Q;ENSP00000369117:R332Q	ENSP00000257863:R332Q	R	+	2	0	AMHR2	52109531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.471000	0.80985	2.769000	0.95229	0.563000	0.77884	CGA		PASS	0.522	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		4	117	4	117	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54905629	54905629	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:54905629A>G	ENST00000293373.6	+	8	857	c.778A>G	c.(778-780)Att>Gtt	p.I260V	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I210V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	260					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.I260V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAGCGCTGGATTATCAGTAA	0.413																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(778-780)ATT>GTT		NCK-associated protein 1-like							223.0	212.0	215.0					12																	54905629		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54905629A>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.778A>G	12.37:g.54905629A>G	ENSP00000293373:p.Ile260Val					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I210V	p.I260V	NM_005337	NP_005328	P55160	NCKPL_HUMAN			8	857	+			260					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.778A>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292952	0.40594	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.29397	1.57;1.57	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	L	0.49513	1.565	0.58432	D	0.999996	D	0.58620	0.983	D	0.73708	0.981	T	0.21965	-1.0230	10	0.16420	T	0.52	-16.2125	13.1976	0.59746	1.0:0.0:0.0:0.0	.	260	P55160	NCKPL_HUMAN	V	260;210	ENSP00000293373:I260V;ENSP00000445596:I210V	ENSP00000293373:I260V	I	+	1	0	NCKAP1L	53191896	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	8.784000	0.91818	2.216000	0.71823	0.460000	0.39030	ATT		PASS	0.413	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		42	157	42	157	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945428	55945428	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:55945428A>T	ENST00000394256.2	+	1	446	c.418A>T	c.(418-420)Ata>Tta	p.I140L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I140L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CAGAGTCTGCATACAACTAGT	0.468																																						uc010spp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)ATA>TTA		olfactory receptor, family 6, subfamily C,							122.0	124.0	124.0					12																	55945428		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945428A>T	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.418A>T	12.37:g.55945428A>T	ENSP00000377799:p.Ile140Leu						p.I140L	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	418	+			140			Helical; Name=4; (Potential).		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.418A>T	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	A	4.173	0.030658	0.08101	.	.	ENSG00000179626	ENST00000394256	T	0.36340	1.26	4.94	-0.307	0.12777	GPCR, rhodopsin-like superfamily (1);	0.642678	0.14384	N	0.322980	T	0.15305	0.0369	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.29458	-1.0011	10	0.12430	T	0.62	.	5.2154	0.15340	0.3864:0.0:0.4561:0.1575	.	140	Q8NGE1	OR6C4_HUMAN	L	140	ENSP00000377799:I140L	ENSP00000377799:I140L	I	+	1	0	OR6C4	54231695	0.000000	0.05858	0.076000	0.20297	0.687000	0.40016	-1.070000	0.03440	-0.117000	0.11872	0.529000	0.55759	ATA		PASS	0.468	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			38	174	38	174	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57863408	57863408	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:57863408C>T	ENST00000228682.2	+	11	1594	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	GLI1_ENST00000543426.1_Silent_p.L373L|GLI1_ENST00000546141.1_Silent_p.L460L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	501					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.L501L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TTGAGAACCTCAGGCTGGACC	0.617																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1501-1503)CTC>CTT		GLI family zinc finger 1 isoform 1							78.0	72.0	74.0					12																	57863408		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57863408C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1503C>T	12.37:g.57863408C>T						GLI1_uc009zpq.2_Silent_p.L373L	p.L501L	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1581	+			501					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.1503C>T	CCDS8940.1																																																																																				PASS	0.617	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		31	118	31	118	---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69652507	69652507	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:69652507C>T	ENST00000435070.2	+	6	942	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.L205F|CPSF6_ENST00000266679.8_Missense_Mutation_p.L315F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	278	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L278F(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACCACCAGTTCTTTTTCCTGG	0.632																																						uc001sut.3																			2	Substitution - Missense(2)		lung(2)		0						c.(832-834)CTT>TTT		cleavage and polyadenylation specific factor 6,							131.0	113.0	119.0					12																	69652507		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652507C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.832C>T	12.37:g.69652507C>T	ENSP00000391774:p.Leu278Phe					CPSF6_uc001suu.3_Missense_Mutation_p.L315F|CPSF6_uc010stk.1_5'UTR	p.L278F	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	942	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		278			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.832C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192753	0.09599	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.53	5.53	0.82687	.	0.120270	0.56097	D	0.000033	T	0.46151	0.1378	L	0.43152	1.355	0.80722	D	1	P;P	0.43701	0.815;0.578	B;B	0.40101	0.319;0.089	T	0.37549	-0.9701	8	.	.	.	-19.3441	14.6745	0.68969	0.1452:0.8548:0.0:0.0	.	315;278	Q16630-2;Q16630	.;CPSF6_HUMAN	F	278;205;315	.	.	L	+	1	0	CPSF6	67938774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.860000	0.48372	2.771000	0.95319	0.563000	0.77884	CTT		PASS	0.632	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		5	249	5	249	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70918263	70918263	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:70918263C>G	ENST00000261266.5	-	31	5988	c.5959G>C	c.(5959-5961)Gag>Cag	p.E1987Q	PTPRB_ENST00000550358.1_Missense_Mutation_p.E2117Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1897Q|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.E2205Q|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1897Q|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1897Q|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1987					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1987Q(2)|p.E2205Q(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTGATACTCTGGATTCACA	0.438																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5959-5961)GAG>CAG		protein tyrosine phosphatase, receptor type, B							105.0	106.0	105.0					12																	70918263		1898	4121	6019	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70918263C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5959G>C	12.37:g.70918263C>G	ENSP00000261266:p.Glu1987Gln					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1897Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1897Q|PTPRB_uc001swc.3_Missense_Mutation_p.E2205Q|PTPRB_uc001swa.3_Missense_Mutation_p.E2117Q	p.E1987Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		31	5989	-	Renal(347;0.236)		1987			Cytoplasmic (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5959G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912730	0.72983	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03065	4.07;4.08;4.06;4.14;4.08;4.12	5.67	5.67	0.87782	.	0.176706	0.48767	D	0.000166	T	0.11665	0.0284	L	0.29908	0.895	0.39187	D	0.962881	D;D;D;D;D	0.76494	0.992;0.992;0.999;0.998;0.992	P;P;D;D;D	0.69307	0.894;0.894;0.963;0.919;0.921	T	0.04737	-1.0930	10	0.59425	D	0.04	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1897;1897;2205;1987;2117	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Q	2205;1897;2117;1897;1897;1987	ENSP00000334928:E2205Q;ENSP00000393028:E1897Q;ENSP00000448058:E2117Q;ENSP00000438927:E1897Q;ENSP00000447302:E1897Q;ENSP00000261266:E1987Q	ENSP00000261266:E1987Q	E	-	1	0	PTPRB	69204530	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	2.261000	0.43276	2.671000	0.90904	0.557000	0.71058	GAG		PASS	0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	32	8	32	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70931979	70931979	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:70931979C>A	ENST00000261266.5	-	26	5277	c.5248G>T	c.(5248-5250)Gat>Tat	p.D1750Y	PTPRB_ENST00000550358.1_Missense_Mutation_p.D1880Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1660Y|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1968Y|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1660Y|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1660Y|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1750	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1750Y(2)|p.D1968Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGATCATCATCTACATTGGAG	0.478																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5248-5250)GAT>TAT		protein tyrosine phosphatase, receptor type, B							186.0	183.0	184.0					12																	70931979		2109	4262	6371	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70931979C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5248G>T	12.37:g.70931979C>A	ENSP00000261266:p.Asp1750Tyr					uc001svz.2_RNA|PTPRB_uc010sto.1_Missense_Mutation_p.D1660Y|PTPRB_uc010stp.1_Missense_Mutation_p.D1660Y|PTPRB_uc001swc.3_Missense_Mutation_p.D1968Y|PTPRB_uc001swa.3_Missense_Mutation_p.D1880Y	p.D1750Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		26	5278	-	Renal(347;0.236)		1750			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5248G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944605	0.92593	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.047128	0.85682	D	0.000000	T	0.45216	0.1331	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.975;0.975;0.988;0.985;0.963	T	0.45891	-0.9230	10	0.66056	D	0.02	.	19.7763	0.96395	0.0:1.0:0.0:0.0	.	1660;1660;1968;1750;1880	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Y	1968;1660;1880;1660;1660;1750	ENSP00000334928:D1968Y;ENSP00000393028:D1660Y;ENSP00000448058:D1880Y;ENSP00000438927:D1660Y;ENSP00000447302:D1660Y;ENSP00000261266:D1750Y	ENSP00000261266:D1750Y	D	-	1	0	PTPRB	69218246	1.000000	0.71417	0.897000	0.35233	0.915000	0.54546	6.079000	0.71291	2.687000	0.91594	0.563000	0.77884	GAT		PASS	0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			24	127	24	127	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70953211	70953211	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:70953211T>C	ENST00000261266.5	-	16	4001	c.3972A>G	c.(3970-3972)ccA>ccG	p.P1324P	PTPRB_ENST00000550358.1_Silent_p.P1454P|PTPRB_ENST00000451516.2_Silent_p.P1234P|PTPRB_ENST00000334414.6_Silent_p.P1542P|PTPRB_ENST00000538708.1_Silent_p.P1234P|PTPRB_ENST00000551525.1_Silent_p.P1541P|PTPRB_ENST00000550857.1_Silent_p.P1234P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1324	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1324P(2)|p.P1542P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGATCTCCCTGGACGAAGAC	0.443																																						uc001swb.3																			3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(3970-3972)CCA>CCG		protein tyrosine phosphatase, receptor type, B							261.0	254.0	256.0					12																	70953211		1974	4155	6129	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953211T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3972A>G	12.37:g.70953211T>C						PTPRB_uc010sto.1_Silent_p.P1234P|PTPRB_uc010stp.1_Silent_p.P1234P|PTPRB_uc001swc.3_Silent_p.P1542P|PTPRB_uc001swa.3_Silent_p.P1454P|PTPRB_uc001swd.3_Silent_p.P1541P|PTPRB_uc009zrr.1_Silent_p.P1421P	p.P1324P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4002	-	Renal(347;0.236)		1324			Fibronectin type-III 15.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.3972A>G	CCDS44944.1																																																																																				PASS	0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			72	416	72	416	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70956660	70956660	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:70956660C>G	ENST00000261266.5	-	14	3507	c.3478G>C	c.(3478-3480)Gag>Cag	p.E1160Q	PTPRB_ENST00000550358.1_Missense_Mutation_p.E1290Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1070Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.E1378Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1070Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1377Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1070Q	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1160	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1160Q(2)|p.E1378Q(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTAGACAGCTCCCCACTGTGA	0.463																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(3478-3480)GAG>CAG		protein tyrosine phosphatase, receptor type, B							111.0	104.0	106.0					12																	70956660		1902	4127	6029	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70956660C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3478G>C	12.37:g.70956660C>G	ENSP00000261266:p.Glu1160Gln					PTPRB_uc010sto.1_Missense_Mutation_p.E1070Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1070Q|PTPRB_uc001swc.3_Missense_Mutation_p.E1378Q|PTPRB_uc001swa.3_Missense_Mutation_p.E1290Q|PTPRB_uc001swd.3_Missense_Mutation_p.E1377Q|PTPRB_uc009zrr.1_Missense_Mutation_p.E1257Q	p.E1160Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3508	-	Renal(347;0.236)		1160			Fibronectin type-III 13.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3478G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849315	0.71603	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.429320	0.26665	N	0.023126	T	0.63721	0.2535	M	0.66939	2.045	0.28782	N	0.899778	P;P;P;D;D;P;P	0.57571	0.833;0.833;0.765;0.98;0.968;0.866;0.864	P;P;P;P;P;P;P	0.62014	0.617;0.617;0.506;0.897;0.738;0.735;0.796	T	0.60042	-0.7340	10	0.23302	T	0.38	.	9.4932	0.38974	0.1433:0.7858:0.0:0.0709	.	1070;1070;1257;1377;1378;1160;1290	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	Q	1378;1070;1290;1070;1070;1160;1377;1257	ENSP00000334928:E1378Q;ENSP00000393028:E1070Q;ENSP00000448058:E1290Q;ENSP00000438927:E1070Q;ENSP00000447302:E1070Q;ENSP00000261266:E1160Q;ENSP00000448349:E1377Q;ENSP00000446982:E1257Q	ENSP00000261266:E1160Q	E	-	1	0	PTPRB	69242927	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	2.139000	0.42149	2.838000	0.97847	0.655000	0.94253	GAG		PASS	0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			5	180	5	180	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72680712	72680712	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:72680712C>A	ENST00000261180.4	+	2	1127	c.1031C>A	c.(1030-1032)aCt>aAt	p.T344N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	344					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T344N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TACAGAGAAACTACCACCAAG	0.393																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1030-1032)ACT>AAT		thyrotropin-releasing hormone degrading enzyme							88.0	85.0	86.0					12																	72680712		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680712C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1031C>A	12.37:g.72680712C>A	ENSP00000261180:p.Thr344Asn						p.T344N	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	1061	+			344			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1031C>A	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.56|13.56	2.272197|2.272197	0.40194|0.40194	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.02787	.|4.16	5.93|5.93	4.87|4.87	0.63330|0.63330	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.105526	.|0.64402	.|D	.|0.000003	T|T	0.03220|0.03220	0.0094|0.0094	N|N	0.25245|0.25245	0.725|0.725	0.45272|0.45272	D|D	0.998276|0.998276	.|B	.|0.20052	.|0.041	.|B	.|0.24848	.|0.056	T|T	0.55823|0.55823	-0.8080|-0.8080	5|10	.|0.38643	.|T	.|0.18	.|.	16.0082|16.0082	0.80377|0.80377	0.0:0.9259:0.0:0.0741|0.0:0.9259:0.0:0.0741	.|.	.|344	.|Q9UKU6	.|TRHDE_HUMAN	K|N	109|344	.|ENSP00000261180:T344N	.|ENSP00000261180:T344N	N|T	+|+	3|2	2|0	TRHDE|TRHDE	70966979|70966979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.874000|4.874000	0.63064|0.63064	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	AAC|ACT		PASS	0.393	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		26	61	26	61	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78388627	78388627	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:78388627C>A	ENST00000397909.2	+	6	889	c.716C>A	c.(715-717)gCa>gAa	p.A239E	NAV3_ENST00000266692.7_Missense_Mutation_p.A239E|NAV3_ENST00000228327.6_Missense_Mutation_p.A239E|NAV3_ENST00000536525.2_Missense_Mutation_p.A239E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	239						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A239E(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						AGTGGAATTGCAACCAGTCAA	0.343										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(715-717)GCA>GAA		neuron navigator 3							134.0	127.0	129.0					12																	78388627		1823	4091	5914	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78388627C>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.716C>A	12.37:g.78388627C>A	ENSP00000381007:p.Ala239Glu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A239E	p.A239E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			6	889	+			239					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.716C>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443864	0.83993	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.95	5.95	0.96441	.	0.193276	0.24200	U	0.040630	T	0.26810	0.0656	N	0.14661	0.345	0.80722	D	1	P;P	0.49783	0.546;0.928	B;B	0.37091	0.136;0.241	T	0.07102	-1.0790	10	0.15499	T	0.54	-19.1809	20.3932	0.98965	0.0:1.0:0.0:0.0	.	239;239	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	239	ENSP00000446628:A239E;ENSP00000446132:A239E;ENSP00000381007:A239E;ENSP00000228327:A239E;ENSP00000266692:A239E	ENSP00000228327:A239E	A	+	2	0	NAV3	76912758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.165000	0.58196	2.824000	0.97209	0.655000	0.94253	GCA		PASS	0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	63	25	63	---	---	---	---
NUDT4	11163	broad.mit.edu	37	12	93793026	93793026	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:93793026G>C	ENST00000415493.2	+	5	841	c.414G>C	c.(412-414)gaG>gaC	p.E138D	NUDT4_ENST00000548662.1_Missense_Mutation_p.E86D|NUDT4_ENST00000547014.1_Missense_Mutation_p.E87D|NUDT4_ENST00000337179.5_Missense_Mutation_p.E139D|NUDT4_ENST00000549992.1_Missense_Mutation_p.E86D	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	138	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.E139D(1)		endometrium(2)|kidney(1)|lung(2)	5						TACATGCAGAGTATCTGGAAA	0.428																																						uc001tcm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GAG>GAC		nudix-type motif 4 isoform alpha							97.0	101.0	100.0					12																	93793026		2203	4297	6500	SO:0001583	missense	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93793026G>C	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.414G>C	12.37:g.93793026G>C	ENSP00000406612:p.Glu138Asp					NUDT4_uc010sup.1_Missense_Mutation_p.E138D|NUDT4_uc001tcn.2_Missense_Mutation_p.E86D|NUDT4_uc010suq.1_Missense_Mutation_p.E87D|NUDT4_uc001tco.2_Missense_Mutation_p.E86D	p.E138D	NM_019094	NP_061967	Q9NZJ9	NUDT4_HUMAN			5	812	+			138			Nudix hydrolase.		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	c.414G>C	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637285	0.67130	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.53	3.68	0.42216	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.043420	0.85682	D	0.000000	T	0.29321	0.0730	L	0.28274	0.84	0.41541	D	0.988515	B;B	0.32365	0.317;0.367	B;B	0.36134	0.197;0.218	T	0.09596	-1.0667	10	0.35671	T	0.21	-7.0556	7.9996	0.30288	0.3376:0.0:0.6624:0.0	.	139;138	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	D	139;138;86;86;86;87;86	ENSP00000338352:E139D;ENSP00000406612:E138D;ENSP00000448504:E86D;ENSP00000449552:E86D;ENSP00000449724:E86D;ENSP00000448032:E87D;ENSP00000448620:E86D	ENSP00000338352:E139D	E	+	3	2	NUDT4	92317157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.731000	0.38135	1.463000	0.47967	0.655000	0.94253	GAG		PASS	0.428	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		6	119	6	119	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100796216	100796216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:100796216G>T	ENST00000323346.5	+	7	1175	c.862G>T	c.(862-864)Gag>Tag	p.E288*	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.E288*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	288					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.E288*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GACCTATATAGAGACAAGCAT	0.423																																						uc010svi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(862-864)GAG>TAG		solute carrier family 17 (sodium-dependent							86.0	84.0	84.0					12																	100796216		2203	4300	6503	SO:0001587	stop_gained	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100796216G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.862G>T	12.37:g.100796216G>T	ENSP00000316909:p.Glu288*					SLC17A8_uc009ztx.2_Nonsense_Mutation_p.E288*	p.E288*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			7	1175	+			288			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.862G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160064	0.94727	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000316909:E288X	E	+	1	0	SLC17A8	99320347	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	9.703000	0.98714	2.788000	0.95919	0.557000	0.71058	GAG		PASS	0.423	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		19	37	19	37	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101493391	101493391	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:101493391G>A	ENST00000392977.3	+	22	2252	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	ANO4_ENST00000299222.9_Missense_Mutation_p.R201Q|ANO4_ENST00000550015.1_Missense_Mutation_p.R201Q|ANO4_ENST00000392979.3_Missense_Mutation_p.R646Q			Q32M45	ANO4_HUMAN	anoctamin 4	681					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R646Q(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAAAAGTACGACAAGAACAT	0.353										HNSCC(74;0.22)																												uc010svm.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(4)|skin(2)	6						c.(2041-2043)CGA>CAA		anoctamin 4							108.0	110.0	109.0					12																	101493391		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101493391G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2042G>A	12.37:g.101493391G>A	ENSP00000376703:p.Arg681Gln	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R646Q|ANO4_uc001thx.2_Missense_Mutation_p.R681Q|ANO4_uc001thy.2_Missense_Mutation_p.R201Q	p.R681Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			22	2614	+			681			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2042G>A		.	.	.	.	.	.	.	.	.	.	G	17.10	3.302954	0.60195	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.67534	0.2903	L	0.49126	1.545	0.51233	D	0.99991	D;D;D	0.54397	0.966;0.961;0.966	B;P;B	0.51550	0.324;0.673;0.405	T	0.61496	-0.7051	10	0.23302	T	0.38	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	201;681;646	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	Q	646;201;681;201	ENSP00000376705:R646Q;ENSP00000299222:R201Q;ENSP00000376703:R681Q;ENSP00000450192:R201Q	ENSP00000299222:R201Q	R	+	2	0	ANO4	100017522	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.661000	0.68025	2.711000	0.92665	0.650000	0.86243	CGA		PASS	0.353	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		28	81	28	81	---	---	---	---
TMEM116	89894	broad.mit.edu	37	12	112374620	112374620	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:112374620T>G	ENST00000550831.3	-	7	556	c.188A>C	c.(187-189)cAc>cCc	p.H63P	TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000355445.3_Missense_Mutation_p.H120P|TMEM116_ENST00000437003.2_Missense_Mutation_p.H63P|TMEM116_ENST00000552374.2_Missense_Mutation_p.H155P|TMEM116_ENST00000354825.3_Missense_Mutation_p.H63P	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	63						integral component of membrane (GO:0016021)		p.H63P(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TGGTGGTGAGTGCATCAAGAT	0.403																																						uc001ttc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)CAC>CCC		transmembrane protein 116							136.0	124.0	128.0					12																	112374620		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112374620T>G	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.188A>C	12.37:g.112374620T>G	ENSP00000450377:p.His63Pro					TMEM116_uc001ttd.1_Missense_Mutation_p.H155P|TMEM116_uc001tte.1_Missense_Mutation_p.H120P|TMEM116_uc001ttf.1_Missense_Mutation_p.H63P|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Missense_Mutation_p.H155P	p.H63P	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN			10	844	-			63					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.188A>C	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	t	11.95	1.792667	0.31685	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037	T;T;T;T;T;T	0.52754	0.65;0.68;0.68;0.68;0.82;0.71	5.12	2.67	0.31697	.	0.675404	0.14107	N	0.340996	T	0.44498	0.1296	L	0.43923	1.385	0.32039	N	0.598445	P;D;P;P	0.54047	0.891;0.964;0.824;0.898	P;P;P;B	0.48141	0.568;0.522;0.522;0.425	T	0.52873	-0.8517	10	0.66056	D	0.02	-0.0098	7.5887	0.28008	0.3879:0.0:0.0:0.6121	.	155;120;155;63	F8VNZ8;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	P	120;63;63;63;155;155	ENSP00000347620:H120P;ENSP00000346883:H63P;ENSP00000450377:H63P;ENSP00000395861:H63P;ENSP00000447731:H155P;ENSP00000446516:H155P	ENSP00000346883:H63P	H	-	2	0	TMEM116	110859003	1.000000	0.71417	0.596000	0.28811	0.655000	0.38815	1.265000	0.33027	0.255000	0.21593	0.383000	0.25322	CAC		PASS	0.403	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		23	59	23	59	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112666057	112666057	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:112666057C>T	ENST00000430131.2	-	42	6569	c.5424G>A	c.(5422-5424)ttG>ttA	p.L1808L	HECTD4_ENST00000377560.5_Silent_p.L2058L|HECTD4_ENST00000550722.1_Silent_p.L2084L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1808					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.L2058L(1)|p.L1808L(1)									TATGAAGAGGCAATGCCTGAT	0.423																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(5422-5424)TTG>TTA		chromosome 12 open reading frame 51							52.0	48.0	49.0					12																	112666057		1921	4127	6048	SO:0001819	synonymous_variant	283450							g.chr12:112666057C>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.5424G>A	12.37:g.112666057C>T						C12orf51_uc001ttr.1_5'UTR	p.L1808L	NM_001109662	NP_001103132					36	5442	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5424G>A																																																																																					PASS	0.423	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	23	8	23	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112670832	112670832	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:112670832C>T	ENST00000430131.2	-	37	5852	c.4707G>A	c.(4705-4707)gtG>gtA	p.V1569V	HECTD4_ENST00000377560.5_Silent_p.V1819V|HECTD4_ENST00000550722.1_Silent_p.V1845V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1569					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.V1819V(1)|p.V1569V(1)									GATCCATCTTCACAACTTTCT	0.443																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(4705-4707)GTG>GTA		chromosome 12 open reading frame 51							108.0	97.0	100.0					12																	112670832		1918	4148	6066	SO:0001819	synonymous_variant	283450							g.chr12:112670832C>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.4707G>A	12.37:g.112670832C>T							p.V1569V	NM_001109662	NP_001103132					31	4725	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.4707G>A																																																																																					PASS	0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		13	11	13	11	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115117424	115117424	+	Silent	SNP	G	G	C	rs375009658		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:115117424G>C	ENST00000257566.3	-	4	1139	c.750C>G	c.(748-750)ccC>ccG	p.P250P	TBX3_ENST00000349155.2_Silent_p.P230P	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	250					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P250P(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGTGGAACCGGGGCTGGTATT	0.443																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(748-750)CCC>CCG		T-box 3 protein isoform 2							174.0	175.0	175.0					12																	115117424		2203	4300	6503	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115117424G>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.750C>G	12.37:g.115117424G>C						TBX3_uc001tvu.1_Silent_p.P230P	p.P250P	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	4	1714	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		250			T-box; second part.		Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.750C>G	CCDS9176.1																																																																																				PASS	0.443	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		38	137	38	137	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117724063	117724063	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:117724063G>C	ENST00000338101.4	-	5	1140	c.1136C>G	c.(1135-1137)tCc>tGc	p.S379C	NOS1_ENST00000344089.3_Missense_Mutation_p.P398A|NOS1_ENST00000317775.6_Missense_Mutation_p.S379C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.S379C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTGGGCTTTGGAGCCAAATCT	0.507																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(1135-1137)TCC>TGC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						138.0	131.0	133.0					12																	117724063		2052	4207	6259	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117724063G>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1136C>G	12.37:g.117724063G>C	ENSP00000337459:p.Ser379Cys						p.S379C	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1822	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		379						Missense_Mutation	SNP	ENST00000338101.4	37	c.1136C>G	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.885322|3.885322	0.72410|0.72410	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.08546|0.25912	3.08|1.77;1.77	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Nitric oxide synthase, oxygenase domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58666|0.58666	0.2138|0.2138	M|M	0.87456|0.87456	2.885|2.885	0.41110|0.41110	D|D	0.98573|0.98573	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.65084|0.65084	-0.6254|-0.6254	7|10	0.87932|0.59425	D|D	0|0.04	-45.1517|-45.1517	18.7873|18.7873	0.91960|0.91960	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|379	.|P29475	.|NOS1_HUMAN	A|C	398|379	ENSP00000339862:P398A|ENSP00000320758:S379C;ENSP00000337459:S379C	ENSP00000339862:P398A|ENSP00000320758:S379C	P|S	-|-	1|2	0|0	NOS1|NOS1	116208446|116208446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.595000|9.595000	0.98260|0.98260	2.669000|2.669000	0.90835|0.90835	0.591000|0.591000	0.81541|0.81541	CCA|TCC		PASS	0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			4	54	4	54	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118298109	118298109	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:118298109T>C	ENST00000339824.5	-	2	1035	c.308A>G	c.(307-309)aAg>aGg	p.K103R	KSR2_ENST00000425217.1_Missense_Mutation_p.K74R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	103					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K135R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGACCTCCTTGCGCACATC	0.627																																						uc001two.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(220-222)AAG>AGG		kinase suppressor of ras 2							57.0	61.0	60.0					12																	118298109		1568	3582	5150	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298109T>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.308A>G	12.37:g.118298109T>C	ENSP00000339952:p.Lys103Arg						p.K74R	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			2	276	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		103					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.221A>G		.	.	.	.	.	.	.	.	.	.	T	17.39	3.377971	0.61735	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78364	-1.17;-1.17	4.54	4.54	0.55810	.	.	.	.	.	T	0.70996	0.3288	L	0.46157	1.445	0.29802	N	0.832376	B	0.34181	0.44	B	0.31946	0.138	T	0.68648	-0.5353	9	0.36615	T	0.2	.	13.2763	0.60189	0.0:0.0:0.0:1.0	.	103	Q6VAB6	KSR2_HUMAN	R	74;103	ENSP00000389715:K74R;ENSP00000339952:K103R	ENSP00000339952:K103R	K	-	2	0	KSR2	116782492	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	6.062000	0.71155	2.034000	0.60081	0.260000	0.18958	AAG		PASS	0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		13	30	13	30	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124156113	124156113	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:124156113G>C	ENST00000303372.5	+	2	270	c.142G>C	c.(142-144)Gac>Cac	p.D48H	TCTN2_ENST00000426174.2_Missense_Mutation_p.D48H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	48					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.D48H(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CCTGGTCGGAGACACCGAGGG	0.632																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)GAC>CAC		tectonic family member 2 isoform 1							74.0	71.0	72.0					12																	124156113		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124156113G>C	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.142G>C	12.37:g.124156113G>C	ENSP00000304941:p.Asp48His					TCTN2_uc009zya.2_Missense_Mutation_p.D48H	p.D48H	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	2	270	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		48			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.142G>C	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117850	0.37339	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83250	-1.7;-1.7	4.5	2.65	0.31530	.	0.622737	0.16128	N	0.228316	T	0.72787	0.3504	L	0.34521	1.04	0.27022	N	0.964453	P;P	0.49961	0.93;0.93	B;B	0.41723	0.365;0.365	T	0.63919	-0.6528	10	0.45353	T	0.12	-27.2551	8.5844	0.33649	0.0845:0.1531:0.7624:0.0	.	48;48	A8K7Y8;Q96GX1	.;TECT2_HUMAN	H	48	ENSP00000395171:D48H;ENSP00000304941:D48H	ENSP00000304941:D48H	D	+	1	0	TCTN2	122722066	0.708000	0.27876	0.606000	0.28943	0.049000	0.14656	0.752000	0.26362	0.585000	0.29608	-0.142000	0.14014	GAC		PASS	0.632	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		22	56	22	56	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124303765	124303765	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:124303765G>T	ENST00000409039.3	+	22	3639	c.3614G>T	c.(3613-3615)gGc>gTc	p.G1205V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1205	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.G1205V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACAGTGAAGGCCCTGGTTCT	0.393																																						uc001uft.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3613-3615)GGC>GTC		dynein, axonemal, heavy chain 10							170.0	166.0	167.0					12																	124303765		1936	4145	6081	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124303765G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3614G>T	12.37:g.124303765G>T	ENSP00000386770:p.Gly1205Val						p.G1205V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	22	3639	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1205			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3614G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273727	0.59649	.	.	ENSG00000197653	ENST00000409039	T	0.24908	1.83	5.18	5.18	0.71444	.	.	.	.	.	T	0.59662	0.2210	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68341	-0.5434	9	0.62326	D	0.03	.	16.8684	0.86035	0.0:0.0:1.0:0.0	.	1205	Q8IVF4	DYH10_HUMAN	V	1205	ENSP00000386770:G1205V	ENSP00000386770:G1205V	G	+	2	0	DNAH10	122869718	1.000000	0.71417	0.975000	0.42487	0.090000	0.18270	9.624000	0.98398	2.398000	0.81561	0.455000	0.32223	GGC		PASS	0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			3	27	3	27	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124846713	124846713	+	Missense_Mutation	SNP	C	C	T	rs371445558		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:124846713C>T	ENST00000405201.1	-	22	3059	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	NCOR2_ENST00000429285.2_Missense_Mutation_p.R1002Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1002Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1003Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.R573Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1019Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1020					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.R1020Q(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCTTGCCCCGGGGGCTGCT	0.721													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12797	0.0		0.0	False		,,,				2504	0.0					uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3058-3060)CGG>CAG		nuclear receptor co-repressor 2 isoform 2		C	GLN/ARG,GLN/ARG,GLN/ARG	0,3880		0,0,1940	8.0	11.0	10.0		3005,3005,3059	3.1	0.0	12		10	2,8200		0,2,4099	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	43,43,43	0,2,6039	TT,TC,CC		0.0244,0.0,0.0166	possibly-damaging,possibly-damaging,possibly-damaging	1002/2459,1002/2505,1020/2515	124846713	2,12080	1940	4101	6041	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124846713C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3059G>A	12.37:g.124846713C>T	ENSP00000384018:p.Arg1020Gln					NCOR2_uc010tay.1_Missense_Mutation_p.R1019Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1003Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1020Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1002Q|NCOR2_uc001ugj.1_Missense_Mutation_p.R1020Q	p.R1020Q	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	22	3176	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1020					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3059G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651458	0.29336	0.0	2.44E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.33216	2.15;2.44;2.18;2.44;2.18;2.44;1.42	4.91	3.06	0.35304	.	0.429619	0.23118	N	0.051724	T	0.19167	0.0460	L	0.50333	1.59	0.09310	N	1	P;P;P	0.39352	0.539;0.539;0.669	B;B;B	0.24394	0.024;0.024;0.053	T	0.13522	-1.0506	10	0.24483	T	0.36	-9.7115	7.6471	0.28327	0.0:0.7437:0.1657:0.0906	.	1002;1003;1020	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1020;1002;1019;1003;1019;573;1002;1020	ENSP00000384018:R1020Q;ENSP00000384202:R1002Q;ENSP00000348551:R1019Q;ENSP00000380513:R1003Q;ENSP00000385618:R573Q;ENSP00000400281:R1002Q;ENSP00000402808:R1020Q	ENSP00000348551:R1019Q	R	-	2	0	NCOR2	123412666	0.006000	0.16342	0.025000	0.17156	0.857000	0.48899	0.279000	0.18771	0.481000	0.27557	0.462000	0.41574	CGG		PASS	0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		14	9	14	9	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21396422	21396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:21396422G>A	ENST00000255305.6	-	8	918	c.847C>T	c.(847-849)Cga>Tga	p.R283*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R283*			Q9C0E2	XPO4_HUMAN	exportin 4	283					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R256*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGATTTTTCGATGTACCTGT	0.398																																						uc001unq.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(847-849)CGA>TGA		exportin 4							111.0	106.0	107.0					13																	21396422		1848	4092	5940	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21396422G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.847C>T	13.37:g.21396422G>A	ENSP00000255305:p.Arg283*						p.R283*	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	8	883	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	283					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.847C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.041910	0.97231	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.243	19.9066	0.97010	0.0:0.0:1.0:0.0	.	.	.	.	X	283;153;283	.	ENSP00000255305:R283X	R	-	1	2	XPO4	20294422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.779000	0.95612	0.655000	0.94253	CGA		PASS	0.398	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		24	50	24	50	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25367445	25367445	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:25367445G>A	ENST00000255324.5	+	10	1253	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RNF17_ENST00000255325.6_Missense_Mutation_p.D401N|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.D401N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	401					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D401N(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCTAGCCCTGATGTGATAAT	0.383																																						uc001upr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1201-1203)GAT>AAT		ring finger protein 17							143.0	139.0	140.0					13																	25367445		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367445G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1201G>A	13.37:g.25367445G>A	ENSP00000255324:p.Asp401Asn					RNF17_uc010tdd.1_Missense_Mutation_p.D260N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.D401N|RNF17_uc001ups.2_Missense_Mutation_p.D340N|RNF17_uc001upq.1_Missense_Mutation_p.D401N	p.D401N	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	10	1242	+		Lung SC(185;0.0225)|Breast(139;0.077)	401					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1201G>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628046	0.87560	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.44482	1.92;1.94;0.92	5.08	5.08	0.68730	.	0.282637	0.28077	N	0.016691	T	0.60945	0.2308	M	0.64997	1.995	0.35434	D	0.794263	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.972;0.998	T	0.65936	-0.6047	10	0.35671	T	0.21	-22.2546	15.4946	0.75641	0.0:0.0:1.0:0.0	.	401;401;401	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	N	401;401;260;402;401	ENSP00000255324:D401N;ENSP00000371346:D401N;ENSP00000255325:D402N	ENSP00000255324:D401N	D	+	1	0	RNF17	24265445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.890000	0.69774	2.646000	0.89796	0.650000	0.86243	GAT		PASS	0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		6	170	6	170	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26145831	26145831	+	Splice_Site	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:26145831G>A	ENST00000381655.2	+	18	1804		c.e18+1		ATP8A2_ENST00000255283.8_Splice_Site|ATP8A2_ENST00000491840.1_Splice_Site	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CATAGAAGCGGTGAGTAACAT	0.418																																						uc001uqk.2																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.e18+1		ATPase, aminophospholipid transporter-like,							133.0	130.0	131.0					13																	26145831		1955	4146	6101	SO:0001630	splice_region_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26145831G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1662+1G>A	13.37:g.26145831G>A						ATP8A2_uc010tdi.1_Splice_Site_p.A514_splice|ATP8A2_uc010tdj.1_Splice_Site|ATP8A2_uc010aaj.1_Splice_Site_p.A64_splice|ATP8A2_uc001uql.1_Missense_Mutation_p.V515M	p.A554_splice	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	18	1804	+		Breast(139;0.0201)|Lung SC(185;0.0225)						Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Splice_Site	SNP	ENST00000381655.2	37	c.1662_splice	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828050	0.50845	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8A2	25043831	1.000000	0.71417	0.807000	0.32361	0.515000	0.34225	7.848000	0.86902	2.452000	0.82932	0.655000	0.94253	.		PASS	0.418	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	Intron	49	75	49	75	---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26974588	26974588	+	Splice_Site	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:26974588A>C	ENST00000381527.3	+	10	1436		c.e10-1		CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_Splice_Site	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTGTGATTTCAGCTTCAGAAG	0.393																																						uc001uqr.1																			1	Unknown(1)		lung(1)	lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.e10-2		cyclin-dependent kinase 8							189.0	174.0	179.0					13																	26974588		2203	4300	6503	SO:0001630	splice_region_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26974588A>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.934-1A>C	13.37:g.26974588A>C						CDK8_uc001uqs.1_Splice_Site_p.L312_splice|CDK8_uc001uqt.1_Splice_Site_p.L139_splice	p.L312_splice	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	10	960	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)						Q5VUF3|Q6ISB5	Splice_Site	SNP	ENST00000381527.3	37	c.934_splice	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874900	0.72180	.	.	ENSG00000132964	ENST00000381527	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1363	0.81491	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK8	25872588	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.904000	0.92590	2.219000	0.72066	0.528000	0.53228	.		PASS	0.393	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		Intron	44	114	44	114	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52951735	52951735	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:52951735C>G	ENST00000258613.4	-	5	2548	c.2370G>C	c.(2368-2370)ctG>ctC	p.L790L	THSD1_ENST00000544466.1_Silent_p.L411L|THSD1_ENST00000349258.4_Silent_p.L737L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	790					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L790L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGAAGGGCTCAGAGAACTGA	0.522																																						uc001vgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2368-2370)CTG>CTC		thrombospondin type I domain-containing 1							76.0	83.0	81.0					13																	52951735		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951735C>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2370G>C	13.37:g.52951735C>G						THSD1_uc001vgp.2_Silent_p.L737L|THSD1_uc010tgz.1_Silent_p.L411L|THSD1_uc010aea.2_Silent_p.L251L	p.L790L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2915	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	790			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.2370G>C	CCDS9432.1																																																																																				PASS	0.522	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			7	125	7	125	---	---	---	---
SUGT1	10910	broad.mit.edu	37	13	53254242	53254242	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:53254242C>G	ENST00000343788.6	+	13	1030	c.948C>G	c.(946-948)atC>atG	p.I316M	SUGT1_ENST00000310528.8_Missense_Mutation_p.I284M|SUGT1_ENST00000535397.1_Missense_Mutation_p.I228M	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	316	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.I316M(1)|p.I284M(1)		kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TTCAGCAGATCTATTCAGATG	0.313																																						uc001vhc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(946-948)ATC>ATG		suppressor of G2 allele of SKP1 isoform a							103.0	110.0	108.0					13																	53254242		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53254242C>G	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.948C>G	13.37:g.53254242C>G	ENSP00000367208:p.Ile316Met					SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.I284M|SUGT1_uc010thb.1_Missense_Mutation_p.I228M|SUGT1_uc001vhd.2_Missense_Mutation_p.I173M	p.I316M	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	13	1173	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	316			SGS.		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.948C>G	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865575	0.51588	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.35605	1.3;1.35	5.22	0.127	0.14727	SGS (2);HSP20-like chaperone (1);	0.096383	0.64402	D	0.000001	T	0.57740	0.2074	M	0.88512	2.96	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.977;0.999;0.999;0.998	T	0.55685	-0.8102	10	0.72032	D	0.01	-7.0643	5.6539	0.17633	0.1304:0.3681:0.0:0.5015	.	228;228;316;284	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	M	316;228;284	ENSP00000367208:I316M;ENSP00000308067:I284M	ENSP00000308067:I284M	I	+	3	3	SUGT1	52152243	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	0.825000	0.27393	-0.010000	0.14271	0.467000	0.42956	ATC		PASS	0.313	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			33	105	33	105	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207128	58207128	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:58207128C>T	ENST00000377918.3	+	1	474	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R150C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCGGGCACCCGCTTCCCCCT	0.622																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(448-450)CGC>TGC		protocadherin 17 precursor							71.0	62.0	65.0					13																	58207128		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207128C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.448C>T	13.37:g.58207128C>T	ENSP00000367151:p.Arg150Cys					PCDH17_uc010aec.1_Missense_Mutation_p.R150C	p.R150C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1340	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	150			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.448C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851674	0.51270	.	.	ENSG00000118946	ENST00000377918	T	0.53640	0.61	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85606	0.1255	9	.	.	.	.	13.6537	0.62325	0.1545:0.8455:0.0:0.0	.	150;150	O14917-2;O14917	.;PCD17_HUMAN	C	150	ENSP00000367151:R150C	.	R	+	1	0	PCDH17	57105129	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	3.691000	0.54720	2.669000	0.90835	0.650000	0.86243	CGC		PASS	0.622	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		10	20	10	20	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67799867	67799867	+	Silent	SNP	C	C	T	rs144564425		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:67799867C>T	ENST00000377865.2	-	1	2840	c.2706G>A	c.(2704-2706)ggG>ggA	p.G902G	PCDH9_ENST00000328454.5_Silent_p.G902G|PCDH9_ENST00000456367.1_Silent_p.G902G|PCDH9_ENST00000544246.1_Silent_p.G902G|PCDH9_ENST00000377861.3_Silent_p.G902G			Q9HC56	PCDH9_HUMAN	protocadherin 9	902					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G902G(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGCTTATTGTCCCATTGATAG	0.463																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2704-2706)GGG>GGA		protocadherin 9 isoform 1 precursor							103.0	105.0	104.0					13																	67799867		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799867C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2706G>A	13.37:g.67799867C>T						PCDH9_uc001vil.2_Silent_p.G902G|PCDH9_uc010thl.1_Silent_p.G902G|PCDH9_uc001vin.3_Silent_p.G902G	p.G902G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3398	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	902			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2706G>A	CCDS9444.1																																																																																				PASS	0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		50	138	50	138	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73428246	73428246	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:73428246G>C	ENST00000326291.6	+	10	1613	c.1275G>C	c.(1273-1275)gtG>gtC	p.V425V	AL391384.1_ENST00000408054.1_RNA	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	425						centrosome (GO:0005813)		p.V425V(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)		AACGAGCAGTGATGGCTGAAA	0.343																																						uc001vjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1273-1275)GTG>GTC		progesterone-induced blocking factor 1							113.0	116.0	115.0					13																	73428246		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73428246G>C	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.1275G>C	13.37:g.73428246G>C						PIBF1_uc001vja.1_Silent_p.V425V|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.V425V|PIBF1_uc010aep.2_Intron	p.V425V	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	10	1580	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	425					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.1275G>C	CCDS31991.1																																																																																				PASS	0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		16	63	16	63	---	---	---	---
KLF12	11278	broad.mit.edu	37	13	74289590	74289590	+	Silent	SNP	C	C	G	rs369385633		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:74289590C>G	ENST00000377669.2	-	6	968	c.942G>C	c.(940-942)cgG>cgC	p.R314R	KLF12_ENST00000377666.4_Silent_p.R314R	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	314					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.R314R(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)		TGTGGATACGCCGTTTTCTGG	0.468																																						uc001vjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(940-942)CGG>CGC		Kruppel-like factor 12							164.0	142.0	149.0					13																	74289590		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:74289590C>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.942G>C	13.37:g.74289590C>G						KLF12_uc010aeq.2_Silent_p.R314R	p.R314R	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1164	-		Prostate(6;0.00217)|Breast(118;0.0838)	314					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.942G>C	CCDS9449.1																																																																																				PASS	0.468	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		61	36	61	36	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76415914	76415914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:76415914G>T	ENST00000321797.8	+	22	3848	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1328*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1043*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.E920*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.E1328*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E994*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1043*(1)|p.E994*(1)|p.E1328*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCCACAAGAGGAAGTTGTTCA	0.512																																						uc001vjv.2																			3	Substitution - Nonsense(3)		lung(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(3127-3129)GAA>TAA		LIM domain only 7 isoform 2							98.0	99.0	99.0					13																	76415914		2203	4300	6503	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76415914G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3127G>T	13.37:g.76415914G>T	ENSP00000317802:p.Glu1043*					LMO7_uc010thv.1_Nonsense_Mutation_p.E994*|LMO7_uc001vjt.1_Nonsense_Mutation_p.E942*|LMO7_uc010thw.1_Nonsense_Mutation_p.E920*|LMO7_uc001vjw.1_Nonsense_Mutation_p.E949*	p.E1043*	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	21	3887	+		Breast(118;0.0992)	1328					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37	c.3127G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.956809|16.956809	0.99876|0.99876	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	.|.	.|.	.|.	5.95|5.95	4.2|4.2	0.49525|0.49525	.|.	1.002020|.	0.08041|.	N|.	0.995080|.	.|T	.|0.61413	.|0.2345	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69811	.|-0.5044	.|3	0.23891|.	T|.	0.37|.	-0.7042|-0.7042	12.2102|12.2102	0.54375|0.54375	0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0	.|.	.|.	.|.	.|.	X|V	994;1328;1328;942;1043;920;1043|951;211	.|.	ENSP00000317802:E1043X|.	E|G	+|+	1|2	0|0	LMO7|LMO7	75313915|75313915	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.078000|0.078000	0.17371|0.17371	3.627000|3.627000	0.54252|0.54252	1.502000|1.502000	0.48669|0.48669	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.512	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		30	60	30	60	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641898	77641898	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:77641898G>A	ENST00000544440.2	-	71	12176	c.12159C>T	c.(12157-12159)atC>atT	p.I4053I	MYCBP2_ENST00000357337.6_Silent_p.I4053I|MYCBP2_ENST00000407578.2_Silent_p.I4091I					MYC binding protein 2, E3 ubiquitin protein ligase									p.I4053I(1)|p.I4091I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGTGAATGATATCACTGA	0.448																																						uc001vkf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(12157-12159)ATC>ATT		MYC binding protein 2							178.0	175.0	176.0					13																	77641898		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641898G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12159C>T	13.37:g.77641898G>A						MYCBP2_uc010aev.2_Silent_p.I3457I|MYCBP2_uc001vke.2_Silent_p.I670I	p.I4053I	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	72	12250	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4053						Silent	SNP	ENST00000544440.2	37	c.12159C>T		.	.	.	.	.	.	.	.	.	.	G	9.385	1.074120	0.20227	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.95	4.01	0.46588	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52102	-0.8620	4	.	.	.	.	5.4119	0.16352	0.2535:0.0:0.5477:0.1989	.	.	.	.	Y	474	.	.	H	-	1	0	MYCBP2	76539899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.921000	0.40035	1.482000	0.48325	0.650000	0.86243	CAT		PASS	0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	224	7	224	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78137971	78137971	+	Missense_Mutation	SNP	T	T	C	rs78419173		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:78137971T>C	ENST00000349847.3	+	5	311	c.227T>C	c.(226-228)gTa>gCa	p.V76A	SCEL_ENST00000535157.1_Missense_Mutation_p.V76A|SCEL_ENST00000377246.3_Missense_Mutation_p.V76A	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	76					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.V76A(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TACAGGAAAGTAAATGAGAGA	0.308																																						uc001vki.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(226-228)GTA>GCA		sciellin isoform 1							100.0	107.0	105.0					13																	78137971		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78137971T>C	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.227T>C	13.37:g.78137971T>C	ENSP00000302579:p.Val76Ala					SCEL_uc001vkj.2_Missense_Mutation_p.V76A|SCEL_uc010thx.1_Missense_Mutation_p.V76A	p.V76A	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	5	397	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	76					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.227T>C	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	T	4.987	0.183286	0.09495	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21361	2.01;2.01;2.01	5.21	-2.48	0.06423	.	1.732920	0.03092	N	0.159897	T	0.06050	0.0157	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.21381	-1.0247	10	0.36615	T	0.2	0.4819	0.7852	0.01047	0.2626:0.3331:0.1328:0.2715	.	76;76;76	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	A	76	ENSP00000437895:V76A;ENSP00000366454:V76A;ENSP00000302579:V76A	ENSP00000315127:V76A	V	+	2	0	SCEL	77035972	0.000000	0.05858	0.151000	0.22473	0.046000	0.14306	-0.725000	0.04942	-0.084000	0.12595	0.459000	0.35465	GTA		PASS	0.308	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		68	40	68	40	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454902	84454902	+	Silent	SNP	C	C	A	rs553796262		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:84454902C>A	ENST00000377084.2	-	1	1626	c.741G>T	c.(739-741)ctG>ctT	p.L247L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	247	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L247L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTTACCCTGCAGTCTGGTGG	0.552																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(739-741)CTG>CTT		slit and trk like 1 protein precursor							61.0	64.0	63.0					13																	84454902		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84454902C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.741G>T	13.37:g.84454902C>A							p.L247L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1627	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	247			Extracellular (Potential).|LRRCT 1.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.741G>T	CCDS9464.1																																																																																				PASS	0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		15	69	15	69	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330197	88330197	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:88330197G>T	ENST00000325089.6	+	2	2773	c.2554G>T	c.(2554-2556)Gac>Tac	p.D852Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.D611Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	852					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.D852Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAGGACGCCGACCGCTTTTA	0.647																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2554-2556)GAC>TAC		SLIT and NTRK-like family, member 5 precursor							28.0	29.0	28.0					13																	88330197		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88330197G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2554G>T	13.37:g.88330197G>T	ENSP00000366283:p.Asp852Tyr					SLITRK5_uc010tic.1_Missense_Mutation_p.D611Y	p.D852Y	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2773	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		852			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2554G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517030	0.64634	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60672	0.17;0.48	5.57	4.73	0.59995	.	0.123358	0.52532	D	0.000079	T	0.57460	0.2055	L	0.36672	1.1	0.53005	D	0.999966	D;D	0.65815	0.995;0.994	P;P	0.53689	0.705;0.732	T	0.55354	-0.8154	9	.	.	.	-21.1665	12.3372	0.55073	0.082:0.0:0.918:0.0	.	611;852	B4DSH5;O94991	.;SLIK5_HUMAN	Y	852;611	ENSP00000366283:D852Y;ENSP00000442244:D611Y	.	D	+	1	0	SLITRK5	87128198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.656000	0.74396	1.354000	0.45846	0.561000	0.74099	GAC		PASS	0.647	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			10	9	10	9	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102231757	102231757	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr13:102231757G>T	ENST00000376180.3	+	5	925	c.706G>T	c.(706-708)Ggc>Tgc	p.G236C	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G143C|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G95C	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	236	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.G236C(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTCCAGATGGCAAAATCTG	0.423																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)GGC>TGC		integrin, beta-like 1 (with EGF-like repeat							110.0	104.0	106.0					13																	102231757		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102231757G>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.706G>T	13.37:g.102231757G>T	ENSP00000365351:p.Gly236Cys					ITGBL1_uc010agb.2_Missense_Mutation_p.G187C|ITGBL1_uc001vpc.3_Missense_Mutation_p.G95C	p.G236C	NM_004791	NP_004782	O95965	ITGBL_HUMAN			5	925	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		236			V.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.706G>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635897	0.87760	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.97279	-4.32;-4.32;-4.32	5.49	5.49	0.81192	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	95;236	B3KTP1;O95965	.;ITGBL_HUMAN	C	236;144;95;95;143	ENSP00000365351:G236C;ENSP00000439903:G95C;ENSP00000365332:G143C	ENSP00000365332:G143C	G	+	1	0	ITGBL1	101029758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.575000	0.82447	2.740000	0.93945	0.563000	0.77884	GGC		PASS	0.423	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		27	33	27	33	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389723	20389723	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:20389723A>T	ENST00000315915.4	+	1	983	c.958A>T	c.(958-960)Act>Tct	p.T320S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T320S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTAGTGAGAACTTCCTTTCA	0.358																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(958-960)ACT>TCT		olfactory receptor, family 4, subfamily K,							66.0	76.0	73.0					14																	20389723		2184	4293	6477	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389723A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.958A>T	14.37:g.20389723A>T	ENSP00000319511:p.Thr320Ser						p.T320S	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	958	+	all_cancers(95;0.00108)		320			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.958A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.027527	0.00410	.	.	ENSG00000176281	ENST00000315915	T	0.04917	3.53	3.86	1.14	0.20703	.	0.705821	0.12297	N	0.481494	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	10	0.06757	T	0.87	.	8.882	0.35380	0.646:0.354:0.0:0.0	.	320	Q8NGD3	OR4K5_HUMAN	S	320	ENSP00000319511:T320S	ENSP00000319511:T320S	T	+	1	0	OR4K5	19459563	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.197000	0.09518	0.606000	0.29965	0.528000	0.53228	ACT		PASS	0.358	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		22	126	22	126	---	---	---	---
RNASE13	440163	broad.mit.edu	37	14	21502089	21502089	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:21502089G>C	ENST00000382951.3	-	2	496	c.359C>G	c.(358-360)cCc>cGc	p.P120R	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	120						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.P120R(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GCAGCTAGTGGGTGGCTGTTG	0.498																																						uc001vzj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(358-360)CCC>CGC		ribonuclease, RNase A family, 13 precursor							242.0	190.0	207.0					14																	21502089		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502089G>C	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.359C>G	14.37:g.21502089G>C	ENSP00000372410:p.Pro120Arg					NDRG2_uc010tll.1_Intron	p.P120R	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	497	-	all_cancers(95;0.000759)		120						Missense_Mutation	SNP	ENST00000382951.3	37	c.359C>G	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498229	0.64186	.	.	ENSG00000206150	ENST00000382951	T	0.72282	-0.64	5.28	5.28	0.74379	Ribonuclease A, domain (3);	0.000000	0.53938	D	0.000041	T	0.76343	0.3974	L	0.34521	1.04	0.25940	N	0.982888	D	0.89917	1.0	D	0.74348	0.983	T	0.70117	-0.4960	10	0.62326	D	0.03	-30.2878	14.4085	0.67099	0.0:0.0:1.0:0.0	.	120	Q5GAN3	RNS13_HUMAN	R	120	ENSP00000372410:P120R	ENSP00000372410:P120R	P	-	2	0	RNASE13	20571929	0.980000	0.34600	0.152000	0.22495	0.035000	0.12851	2.964000	0.49192	2.457000	0.83068	0.650000	0.86243	CCC		PASS	0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			56	137	56	137	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21831420	21831420	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:21831420C>A	ENST00000216297.2	-	12	1705	c.1367G>T	c.(1366-1368)cGg>cTg	p.R456L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	456					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R456L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAATGCTGCCCGAGAACCTCT	0.368																																						uc001wao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)CGG>CTG		chromatin-specific transcription elongation							79.0	81.0	80.0					14																	21831420		2203	4299	6502	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831420C>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1367G>T	14.37:g.21831420C>A	ENSP00000216297:p.Arg456Leu						p.R456L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	12	1706	-	all_cancers(95;0.00115)		456			Potential.		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1367G>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813722	0.70912	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.78456	2.415	0.80722	D	1	P	0.39131	0.661	B	0.32533	0.147	T	0.70156	-0.4949	9	0.54805	T	0.06	-4.6008	17.2867	0.87143	0.0:1.0:0.0:0.0	.	456	Q9Y5B9	SP16H_HUMAN	L	456	.	ENSP00000216297:R456L	R	-	2	0	SUPT16H	20901260	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.271000	0.72569	2.380000	0.81148	0.655000	0.94253	CGG		PASS	0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			8	21	8	21	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24838738	24838738	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:24838738G>A	ENST00000250373.4	+	2	275	c.134G>A	c.(133-135)cGt>cAt	p.R45H	NFATC4_ENST00000413692.2_Missense_Mutation_p.R108H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R45H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R33H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R108H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R58H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R58H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R58H|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.R77H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R77H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R33H|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.R77H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R33H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R45H|NFATC4_ENST00000440487.2_3'UTR	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	45	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.R108H(1)|p.R45H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCATGCTGCCGTCTGGCCTTG	0.622																																						uc001wpc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(133-135)CGT>CAT		nuclear factor of activated T-cells,							131.0	147.0	141.0					14																	24838738		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838738G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.134G>A	14.37:g.24838738G>A	ENSP00000250373:p.Arg45His					NFATC4_uc010tok.1_Missense_Mutation_p.R108H|NFATC4_uc010tol.1_Missense_Mutation_p.R108H|NFATC4_uc010alr.2_Missense_Mutation_p.R108H|NFATC4_uc010als.2_Missense_Mutation_p.R58H|NFATC4_uc010tom.1_Missense_Mutation_p.R58H|NFATC4_uc010ton.1_Missense_Mutation_p.R58H|NFATC4_uc010too.1_Missense_Mutation_p.R58H|NFATC4_uc010alt.2_Missense_Mutation_p.R77H|NFATC4_uc010top.1_Missense_Mutation_p.R77H|NFATC4_uc010toq.1_Missense_Mutation_p.R77H|NFATC4_uc010alu.2_Missense_Mutation_p.R45H|NFATC4_uc010tor.1_Missense_Mutation_p.R45H|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.R33H|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.R33H|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.R33H|NFATC4_uc010tox.1_5'UTR	p.R45H	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	455	+			45			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.134G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056030	0.36277	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000556169;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29397	3.22;3.23;3.24;3.25;3.24;3.23;3.24;3.24;3.25;1.57;3.25;3.24;1.87;2.91;2.89;2.9	3.62	3.62	0.41486	.	0.589948	0.15340	N	0.267565	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	P;P;P;P;P;P;P;P;D;P;P;P;P;P	0.55800	0.798;0.871;0.871;0.871;0.608;0.871;0.871;0.871;0.973;0.871;0.871;0.955;0.871;0.696	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39217	0.135;0.294;0.202;0.294;0.135;0.202;0.294;0.294;0.294;0.294;0.294;0.215;0.294;0.064	T	0.04522	-1.0945	10	0.21540	T	0.41	-3.8914	10.629	0.45525	0.0:0.0:1.0:0.0	.	33;33;77;77;58;58;58;108;108;33;77;22;108;45	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	108;108;58;58;58;77;77;77;45;45;45;45;45;22;33;33;33	ENSP00000388910:R108H;ENSP00000452039:R108H;ENSP00000451224:R58H;ENSP00000450644:R58H;ENSP00000388668:R58H;ENSP00000439350:R77H;ENSP00000452270:R77H;ENSP00000451502:R77H;ENSP00000451151:R45H;ENSP00000451992:R45H;ENSP00000250373:R45H;ENSP00000450590:R45H;ENSP00000452352:R22H;ENSP00000451454:R33H;ENSP00000396788:R33H;ENSP00000450686:R33H	ENSP00000250373:R45H	R	+	2	0	NFATC4	23908578	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	2.326000	0.43849	1.851000	0.53745	0.655000	0.94253	CGT		PASS	0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		88	242	88	242	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33292897	33292897	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:33292897C>T	ENST00000280979.4	+	13	6048	c.5878C>T	c.(5878-5880)Ctt>Ttt	p.L1960F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1960					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L1960F(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTAGACATCTTCCAAAGAA	0.388																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5878-5880)CTT>TTT		A-kinase anchor protein 6							68.0	70.0	69.0					14																	33292897		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292897C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5878C>T	14.37:g.33292897C>T	ENSP00000280979:p.Leu1960Phe						p.L1960F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6048	+	Breast(36;0.0388)|Prostate(35;0.15)		1960					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5878C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053145	0.19907	.	.	ENSG00000151320	ENST00000280979	T	0.53423	0.62	5.96	3.11	0.35812	.	0.644067	0.15751	N	0.246417	T	0.28499	0.0705	N	0.22421	0.69	0.09310	N	0.999999	P	0.34780	0.468	B	0.29267	0.1	T	0.12066	-1.0562	10	0.48119	T	0.1	0.2838	6.6538	0.22977	0.0:0.5699:0.237:0.1931	.	1960	Q13023	AKAP6_HUMAN	F	1960	ENSP00000280979:L1960F	ENSP00000280979:L1960F	L	+	1	0	AKAP6	32362648	0.000000	0.05858	0.062000	0.19696	0.841000	0.47740	0.098000	0.15189	0.845000	0.35118	0.655000	0.94253	CTT		PASS	0.388	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	117	8	117	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360792	42360792	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:42360792G>T	ENST00000298119.4	+	4	2914	c.1725G>T	c.(1723-1725)ggG>ggT	p.G575G	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	575						integral component of membrane (GO:0016021)		p.G575G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAACTAACGGGGCTCAAATAC	0.453										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1723-1725)GGG>GGT		leucine rich repeat and fibronectin type III							99.0	92.0	94.0					14																	42360792		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360792G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1725G>T	14.37:g.42360792G>T		HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.G575G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2923	+			575			Cytoplasmic (Potential).		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1725G>T	CCDS9678.1																																																																																				PASS	0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		21	46	21	46	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55168860	55168860	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:55168860G>A	ENST00000554335.1	+	3	940	c.277G>A	c.(277-279)Gga>Aga	p.G93R	SAMD4A_ENST00000357634.3_Missense_Mutation_p.G92R|SAMD4A_ENST00000392067.3_Missense_Mutation_p.G93R|SAMD4A_ENST00000251091.5_Missense_Mutation_p.G93R|SAMD4A_ENST00000555112.1_3'UTR			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	93					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.G92R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GCTGAAGCCAGGAAACCTCGA	0.448																																						uc001xbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GGA>AGA		sterile alpha motif domain containing 4 isoform							92.0	91.0	91.0					14																	55168860		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55168860G>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.277G>A	14.37:g.55168860G>A	ENSP00000452535:p.Gly93Arg					SAMD4A_uc001xba.2_Missense_Mutation_p.G92R|SAMD4A_uc001xbc.2_Missense_Mutation_p.G92R|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_5'UTR	p.G92R	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			2	275	+			93					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.274G>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293522	0.80914	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.73047	-0.71;-0.71;-0.71	6.17	6.17	0.99709	.	0.056427	0.64402	D	0.000001	T	0.79947	0.4534	L	0.38953	1.18	0.38547	D	0.949367	P;D	0.89917	0.946;1.0	P;D	0.91635	0.781;0.999	T	0.77792	-0.2455	10	0.40728	T	0.16	-18.282	20.8794	0.99867	0.0:0.0:1.0:0.0	.	93;93	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	R	93;93;93;92;92	ENSP00000452535:G93R;ENSP00000375919:G93R;ENSP00000350261:G92R	ENSP00000306381:G93R	G	+	1	0	SAMD4A	54238610	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.533000	0.73829	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.448	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		25	50	25	50	---	---	---	---
SLC35F4	341880	broad.mit.edu	37	14	58056099	58056099	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:58056099G>A	ENST00000339762.6	-	3	529	c.530C>T	c.(529-531)tCt>tTt	p.S177F	SLC35F4_ENST00000556826.1_Missense_Mutation_p.S141F|SLC35F4_ENST00000554729.1_Missense_Mutation_p.S18F			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	177					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.S177F(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAACCCAAGATGATGATAC	0.408																																						uc001xdb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(529-531)TCT>TTT		solute carrier family 35, member F4							81.0	83.0	82.0					14																	58056099		1960	4159	6119	SO:0001583	missense	341880							g.chr14:58056099G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.530C>T	14.37:g.58056099G>A	ENSP00000342518:p.Ser177Phe					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.S18F	p.S177F	NM_001080455	NP_001073924					3	530	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.530C>T		.	.	.	.	.	.	.	.	.	.	G	18.27	3.586665	0.66105	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.55930	0.54;0.49;0.75	6.06	5.16	0.70880	.	0.045519	0.85682	D	0.000000	T	0.68421	0.2999	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67898	-0.5551	10	0.39692	T	0.17	-17.8413	16.8541	0.86001	0.0:0.0:0.8705:0.1295	.	177	A4IF30	S35F4_HUMAN	F	141;177;18	ENSP00000452086:S141F;ENSP00000342518:S177F;ENSP00000451990:S18F	ENSP00000342518:S177F	S	-	2	0	SLC35F4	57125852	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	9.397000	0.97276	1.559000	0.49555	0.655000	0.94253	TCT		PASS	0.408	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		5	35	5	35	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64467388	64467388	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:64467388G>T	ENST00000344113.4	+	28	3801	c.3589G>T	c.(3589-3591)Gac>Tac	p.D1197Y	SYNE2_ENST00000358025.3_Missense_Mutation_p.D1197Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1197Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1197					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D1197Y(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGGAAAGAGACACACTAAA	0.308																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3589-3591)GAC>TAC		spectrin repeat containing, nuclear envelope 2							78.0	77.0	78.0					14																	64467388		1814	4066	5880	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64467388G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3589G>T	14.37:g.64467388G>T	ENSP00000341781:p.Asp1197Tyr					SYNE2_uc001xgl.2_Missense_Mutation_p.D1197Y	p.D1197Y	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	28	3819	+			1197			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3589G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	7.575	0.667547	0.14710	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57595	0.76;0.76;0.39	5.86	4.98	0.66077	.	0.602886	0.16660	N	0.204808	T	0.59770	0.2218	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.63113	0.817;0.911	T	0.60627	-0.7226	10	0.66056	D	0.02	.	8.0976	0.30837	0.2112:0.0:0.7888:0.0	.	1197;1197	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	1197	ENSP00000350719:D1197Y;ENSP00000341781:D1197Y;ENSP00000452570:D1197Y	ENSP00000261678:D1197Y	D	+	1	0	SYNE2	63537141	0.960000	0.32886	0.974000	0.42286	0.096000	0.18686	1.976000	0.40579	1.628000	0.50416	-0.145000	0.13849	GAC		PASS	0.308	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		41	96	41	96	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64519522	64519522	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:64519522G>A	ENST00000344113.4	+	48	9103	c.8891G>A	c.(8890-8892)cGc>cAc	p.R2964H	SYNE2_ENST00000358025.3_Missense_Mutation_p.R2964H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.R2997H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2964					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R2964H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTATACAGCGCAATGAACTA	0.358																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8890-8892)CGC>CAC		spectrin repeat containing, nuclear envelope 2							47.0	45.0	45.0					14																	64519522		1872	4103	5975	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519522G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8891G>A	14.37:g.64519522G>A	ENSP00000341781:p.Arg2964His					SYNE2_uc001xgl.2_Missense_Mutation_p.R2964H	p.R2964H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9121	+			2964			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8891G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	0.893	-0.724771	0.03158	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56103	0.85;0.85;0.48	5.24	1.55	0.23275	.	0.639490	0.14541	N	0.313288	T	0.20047	0.0482	N	0.01874	-0.695	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17592	-1.0364	10	0.20519	T	0.43	.	3.8425	0.08920	0.5663:0.0:0.2791:0.1546	.	2964;2964	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2964;2964;2997;2997	ENSP00000350719:R2964H;ENSP00000341781:R2964H;ENSP00000452570:R2997H	ENSP00000261678:R2997H	R	+	2	0	SYNE2	63589275	0.000000	0.05858	0.217000	0.23759	0.223000	0.24884	0.041000	0.13927	0.301000	0.22738	-0.752000	0.03492	CGC		PASS	0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	44	16	44	---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73987628	73987628	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:73987628G>T	ENST00000553558.1	-	4	1318	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	HEATR4_ENST00000334988.2_Missense_Mutation_p.R333S|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.R286S|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	333								p.R286S(1)|p.R333S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTCACCTGGCGAAAGTAGCTC	0.522																																						uc010tub.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(997-999)CGC>AGC		HEAT repeat containing 4							158.0	143.0	148.0					14																	73987628		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73987628G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.997C>A	14.37:g.73987628G>T	ENSP00000450444:p.Arg333Ser					HEATR4_uc010tua.1_Missense_Mutation_p.R286S	p.R333S	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	4	1319	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.997C>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553726	0.45487	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.39056	1.1	5.39	4.49	0.54785	.	0.153060	0.29806	N	0.011148	T	0.33904	0.0879	L	0.32530	0.975	0.09310	N	1	B	0.27498	0.18	B	0.28709	0.093	T	0.34576	-0.9823	10	0.87932	D	0	-4.0133	12.1433	0.54010	0.0:0.1726:0.8274:0.0	.	333	Q86WZ0	HEAT4_HUMAN	S	333;286	ENSP00000450444:R333S	ENSP00000335447:R286S	R	-	1	0	HEATR4	73057381	0.056000	0.20664	0.030000	0.17652	0.011000	0.07611	2.757000	0.47557	1.257000	0.44085	0.655000	0.94253	CGC		PASS	0.522	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		46	81	46	81	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88895791	88895791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:88895791C>T	ENST00000393545.4	+	8	1301	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*	SPATA7_ENST00000556553.1_Nonsense_Mutation_p.Q306*|SPATA7_ENST00000356583.5_Nonsense_Mutation_p.Q306*|SPATA7_ENST00000045347.7_Nonsense_Mutation_p.Q338*	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	338					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.Q338*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGATGCTCTTCAGCATTCCTC	0.373																																						uc001xwq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1012-1014)CAG>TAG		spermatogenesis-associated protein 7 isoform a							105.0	103.0	104.0					14																	88895791		2203	4300	6503	SO:0001587	stop_gained	55812				response to stimulus|visual perception			g.chr14:88895791C>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1012C>T	14.37:g.88895791C>T	ENSP00000377176:p.Gln338*					SPATA7_uc001xwr.2_Nonsense_Mutation_p.Q306*|SPATA7_uc001xws.2_Nonsense_Mutation_p.Q274*|SPATA7_uc001xwt.2_Nonsense_Mutation_p.Q232*|SPATA7_uc001xwu.2_5'UTR	p.Q338*	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			8	1163	+			338					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Nonsense_Mutation	SNP	ENST00000393545.4	37	c.1012C>T	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646222	0.87958	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	.	.	.	5.51	5.51	0.81932	.	0.390782	0.24856	N	0.035047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-1.1186	15.2755	0.73739	0.0:1.0:0.0:0.0	.	.	.	.	X	306;338;306;338	.	ENSP00000045347:Q338X	Q	+	1	0	SPATA7	87965544	0.119000	0.22226	0.009000	0.14445	0.009000	0.06853	3.523000	0.53488	2.743000	0.94032	0.650000	0.86243	CAG		PASS	0.373	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			4	82	4	82	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89039028	89039028	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:89039028G>A	ENST00000251038.5	+	6	763	c.538G>A	c.(538-540)Gat>Aat	p.D180N	ZC3H14_ENST00000302216.8_Missense_Mutation_p.D180N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.D146N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.D25N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.D180N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.D146N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.D180N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.D180N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	180						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D180N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGAACCAGATGATCTCATTGA	0.438																																						uc001xww.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(538-540)GAT>AAT		zinc finger CCCH-type containing 14 isoform 1							158.0	157.0	157.0					14																	89039028		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039028G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.538G>A	14.37:g.89039028G>A	ENSP00000251038:p.Asp180Asn					ZC3H14_uc010twd.1_Missense_Mutation_p.D180N|ZC3H14_uc010twe.1_Missense_Mutation_p.D180N|ZC3H14_uc001xwx.2_Missense_Mutation_p.D180N|ZC3H14_uc010twf.1_Missense_Mutation_p.D25N|ZC3H14_uc001xwy.2_Missense_Mutation_p.D146N|ZC3H14_uc010twg.1_Missense_Mutation_p.D25N	p.D180N	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			6	763	+			180					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.538G>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.545288|5.545288	0.96488|0.96488	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.046172|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.68952|0.68952	2.095|2.095	0.51012|0.51012	D|D	0.999902|0.999902	D;D;D;D;D;D|.	0.89917|.	1.0;0.996;0.998;1.0;0.996;1.0|.	D;P;D;D;P;D|.	0.87578|.	0.998;0.892;0.995;0.998;0.892;0.998|.	T|T	0.72903|0.72903	-0.4151|-0.4151	9|5	0.42905|.	T|.	0.14|.	-15.5031|-15.5031	20.106|20.106	0.97895|0.97895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;161;180;180;180;180|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	180;180;180;146;180;161;180;167;25;146;180;180;146|95	.|.	ENSP00000251038:D180N|.	D|M	+|+	1|3	0|0	ZC3H14|ZC3H14	88108781|88108781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.063000|8.063000	0.89482|0.89482	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.438	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		63	118	63	118	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93118174	93118174	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:93118174C>T	ENST00000216487.7	+	6	939	c.780C>T	c.(778-780)cgC>cgT	p.R260R	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	260	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R260R(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGCACGCCCTTTGCCGC	0.652																																						uc001yap.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(778-780)CGC>CGT		Ras and Rab interactor 3							100.0	97.0	98.0					14																	93118174		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118174C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.780C>T	14.37:g.93118174C>T						RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.R185R|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.R260R	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	932	+		all_cancers(154;0.0701)	260			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.780C>T	CCDS32144.1																																																																																				PASS	0.652	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			13	131	13	131	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93142918	93142918	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:93142918G>A	ENST00000216487.7	+	8	2593	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	812	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E812K(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GTACATGATGGAGCTCATGGA	0.622																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2434-2436)GAG>AAG		Ras and Rab interactor 3							73.0	62.0	66.0					14																	93142918		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93142918G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2434G>A	14.37:g.93142918G>A	ENSP00000216487:p.Glu812Lys					RIN3_uc010auk.2_Missense_Mutation_p.E474K|RIN3_uc001yaq.2_Missense_Mutation_p.E737K|RIN3_uc001yas.1_Missense_Mutation_p.E474K	p.E812K	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			8	2586	+		all_cancers(154;0.0701)	812			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2434G>A	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.289880|5.289880	0.95546|0.95546	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000216487;ENST00000428147|ENST00000556418	T|.	0.31769|.	1.48|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73636|0.73636	0.3612|0.3612	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.987;0.999;0.99|.	T|T	0.74197|0.74197	-0.3743|-0.3743	10|5	0.62326|.	D|.	0.03|.	-29.672|-29.672	17.5653|17.5653	0.87918|0.87918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	812;737;812|.	Q8TB24-4;Q6ZRC2;Q8TB24|.	.;.;RIN3_HUMAN|.	K|E	812;736|328	ENSP00000216487:E812K|.	ENSP00000216487:E812K|.	E|G	+|+	1|2	0|0	RIN3|RIN3	92212671|92212671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	9.750000|9.750000	0.98875|0.98875	2.140000|2.140000	0.66376|0.66376	0.313000|0.313000	0.20887|0.20887	GAG|GGA		PASS	0.622	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			14	62	14	62	---	---	---	---
PRIMA1	145270	broad.mit.edu	37	14	94245620	94245620	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:94245620A>G	ENST00000393140.1	-	3	233	c.131T>C	c.(130-132)gTg>gCg	p.V44A	PRIMA1_ENST00000316227.3_Missense_Mutation_p.V44A|PRIMA1_ENST00000393143.1_Missense_Mutation_p.V44A	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	44					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)		p.V44A(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCTGTCAGTCACTTTGGAGCA	0.642																																						uc001ybw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(130-132)GTG>GCG		proline rich membrane anchor 1 precursor							38.0	32.0	34.0					14																	94245620		2202	4300	6502	SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94245620A>G		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.131T>C	14.37:g.94245620A>G	ENSP00000376848:p.Val44Ala					PRIMA1_uc001ybx.1_RNA	p.V44A	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	173	-		all_cancers(154;0.127)	44			Extracellular (Potential).		Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	c.131T>C	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269618	0.40095	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.86	3.65	0.41850	.	0.000000	0.64402	D	0.000007	T	0.31638	0.0803	N	0.24115	0.695	0.32721	N	0.510325	B	0.24368	0.102	B	0.24541	0.054	T	0.41088	-0.9528	9	0.45353	T	0.12	-9.8146	9.1451	0.36928	0.8022:0.1978:0.0:0.0	.	44	Q86XR5	PRIMA_HUMAN	A	44	.	ENSP00000320948:V44A	V	-	2	0	PRIMA1	93315373	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.888000	0.48594	1.829000	0.53265	0.448000	0.29417	GTG		PASS	0.642	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		12	28	12	28	---	---	---	---
TCL1A	8115	broad.mit.edu	37	14	96178694	96178694	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:96178694C>G	ENST00000402399.1	-	2	289	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.E54Q|TCL1A_ENST00000554012.1_Missense_Mutation_p.E54Q|TCL1A_ENST00000556450.1_Missense_Mutation_p.E54Q|RP11-164H13.1_ENST00000547644.2_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	54					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)		p.E54Q(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		ACGACGTCTTCCCGACGCAAG	0.567			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)	uc001yfc.3				Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(160-162)GAA>CAA		T-cell leukemia/lymphoma 1A							81.0	85.0	83.0					14																	96178694		2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178694C>G	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.160G>C	14.37:g.96178694C>G	ENSP00000385036:p.Glu54Gln					TCL1A_uc001yfb.3_Missense_Mutation_p.E54Q	p.E54Q	NM_001098725	NP_001092195	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	290	-		all_cancers(154;0.103)	54					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.160G>C	CCDS9941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.225|5.225	0.227013|0.227013	0.09916|0.09916	.|.	.|.	ENSG00000100721|ENSG00000100721	ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202|ENST00000557043	T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49|.	3.61|3.61	-1.67|-1.67	0.08238|0.08238	.|.	0.860661|.	0.10018|.	N|.	0.726337|.	T|T	0.41488|0.41488	0.1161|0.1161	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B|.	0.24768|.	0.111|.	B|.	0.17722|.	0.019|.	T|T	0.41538|0.41538	-0.9503|-0.9503	10|5	0.56958|.	D|.	0.05|.	-2.8623|-2.8623	4.213|4.213	0.10521|0.10521	0.0:0.4076:0.1725:0.4199|0.0:0.4076:0.1725:0.4199	.|.	54|.	P56279|.	TCL1A_HUMAN|.	Q|A	54|28	ENSP00000451506:E54Q;ENSP00000385036:E54Q;ENSP00000450701:E54Q;ENSP00000450496:E54Q|.	ENSP00000385036:E54Q|.	E|G	-|-	1|2	0|0	TCL1A|TCL1A	95248447|95248447	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.797000|-0.797000	0.04570|0.04570	-0.362000|-0.362000	0.08113|0.08113	-0.379000|-0.379000	0.06801|0.06801	GAA|GGA		PASS	0.567	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			37	105	37	105	---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																						uc001ygx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(685-687)TTC>TTT		degenerative spermatocyte homolog 2, lipid		G		0,4406		0,0,2203	61.0	73.0	69.0		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615443G>A		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A							p.F229F	NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN			2	775	-		Melanoma(154;0.212)	229			Helical; (Potential).			Silent	SNP	ENST00000305631.5	37	c.687C>T	CCDS9956.1																																																																																				PASS	0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		37	135	37	135	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091400	106091400	+	RNA	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106091400T>C	ENST00000390543.2	-	0	493							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTTGGCATTATGCACCTCCAC	0.612																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							219.0	268.0	251.0					14																	106091400		2183	4279	6462			8755							g.chr14:106091400T>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091400T>C						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron								3647		-									RNA	SNP	ENST00000390543.2	37	c.62108A>G																																																																																					PASS	0.612	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		83	253	83	253	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106235584	106235584	+	RNA	SNP	G	G	A	rs373022400		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106235584G>A	ENST00000390551.2	-	0	1122							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCATTTACCCGGAGACAGGGA	0.637																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.		G		1,3953		0,1,1976	81.0	84.0	83.0			2.2	0.7	14		83	1,8301		0,1,4150	no	intergenic				0,2,6126	AA,AG,GG		0.012,0.0253,0.0163			106235584	2,12254	1977	4151	6128			8755							g.chr14:106235584G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106235584G>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA								3617		-								A2NU35	RNA	SNP	ENST00000390551.2	37	c.58263C>T																																																																																					PASS	0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		14	171	14	171	---	---	---	---
IGHV3-16	28447	broad.mit.edu	37	14	106622046	106622046	+	RNA	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106622046C>G	ENST00000390604.2	-	0	272									immunoglobulin heavy variable 3-16 (non-functional)																		ACACCCGATACCCACTCCAGC	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							189.0	171.0	177.0					14																	106622046		1904	4119	6023			8755							g.chr14:106622046C>G	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622046C>G														1113		-									RNA	SNP	ENST00000390604.2	37	c.25600G>C																																																																																					PASS	0.552	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		169	278	169	278	---	---	---	---
IGHV1-45	28466	broad.mit.edu	37	14	106962949	106962949	+	RNA	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106962949G>A	ENST00000390621.2	-	0	390									immunoglobulin heavy variable 1-45																		AGTAATACATGGCTGTGTCCT	0.512																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							182.0	183.0	182.0					14																	106962949		2085	4226	6311			8755							g.chr14:106962949G>A	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106962949G>A														207		-									RNA	SNP	ENST00000390621.2	37	c.9735C>T																																																																																					PASS	0.512	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		97	240	97	240	---	---	---	---
IGHV1-45	28466	broad.mit.edu	37	14	106963124	106963124	+	RNA	SNP	A	A	G	rs367784343		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106963124A>G	ENST00000390621.2	-	0	215									immunoglobulin heavy variable 1-45																		CACCCAGTGCAGGTAGCGGTA	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							121.0	120.0	120.0					14																	106963124		1963	4149	6112			8755							g.chr14:106963124A>G	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963124A>G														207		-									RNA	SNP	ENST00000390621.2	37	c.9560T>C																																																																																					PASS	0.557	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		27	145	27	145	---	---	---	---
IGHV1-46	28465	broad.mit.edu	37	14	106967343	106967343	+	RNA	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr14:106967343G>C	ENST00000390622.2	-	0	360									immunoglobulin heavy variable 1-46																		GCTGCACCTGGGAGTGAGCAC	0.542																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							82.0	82.0	82.0					14																	106967343		1890	4121	6011			8755							g.chr14:106967343G>C	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967343G>C														201		-									RNA	SNP	ENST00000390622.2	37	c.9098C>G																																																																																					PASS	0.542	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		30	125	30	125	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811259	23811259	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:23811259G>A	ENST00000314520.3	+	1	806	c.330G>A	c.(328-330)aaG>aaA	p.K110K	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	110					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K110K(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCAGTGCAAGGAGGGGGAGA	0.597																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(328-330)AAG>AAA		makorin ring finger protein 3							61.0	62.0	61.0					15																	23811259		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811259G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.330G>A	15.37:g.23811259G>A						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.K110K	p.K110K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	806	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	110			C3H1-type 1.			Silent	SNP	ENST00000314520.3	37	c.330G>A	CCDS10013.1																																																																																				PASS	0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		30	100	30	100	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890784	23890784	+	Silent	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:23890784T>A	ENST00000532292.1	-	1	391	c.297A>T	c.(295-297)gcA>gcT	p.A99A		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.A99A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATTTGCCGCTGCTACCGGGG	0.627																																						uc001ywj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)GCA>GCT		MAGE-like protein 2							12.0	13.0	13.0					15																	23890784		1851	4077	5928	SO:0001819	synonymous_variant	54551							g.chr15:23890784T>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.297A>T	15.37:g.23890784T>A							p.A99A	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	392	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.297A>T		.	.	.	.	.	.	.	.	.	.	t	0.251	-1.006435	0.02112	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.42	-6.83	0.01693	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	.	2.3208	0.04211	0.123:0.2967:0.1216:0.4587	.	.	.	.	L	131	.	.	Q	-	2	0	MAGEL2	21441877	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.482000	0.00981	-1.445000	0.01948	-2.284000	0.00269	CAG		PASS	0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	15	8	15	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25932875	25932875	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:25932875A>G	ENST00000356865.6	-	16	3377	c.3266T>C	c.(3265-3267)gTg>gCg	p.V1089A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1089					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1089A(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAAGTACAGCACCATGTTGGC	0.498																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3265-3267)GTG>GCG		ATPase, class V, type 10A							161.0	149.0	153.0					15																	25932875		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25932875A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3266T>C	15.37:g.25932875A>G	ENSP00000349325:p.Val1089Ala						p.V1089A	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3372	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1089			Helical; (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3266T>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923086	0.73213	.	.	ENSG00000206190	ENST00000356865;ENST00000555756	D;D	0.88896	-2.44;-2.44	5.52	5.52	0.82312	.	0.054711	0.64402	D	0.000001	D	0.92708	0.7682	M	0.72624	2.21	0.53005	D	0.999962	D	0.55172	0.97	P	0.57960	0.83	D	0.93377	0.6740	10	0.66056	D	0.02	-37.7323	15.6637	0.77209	1.0:0.0:0.0:0.0	.	1089	O60312	AT10A_HUMAN	A	1089;118	ENSP00000349325:V1089A;ENSP00000451615:V118A	ENSP00000349325:V1089A	V	-	2	0	ATP10A	23483968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.029000	0.93718	2.095000	0.63458	0.533000	0.62120	GTG		PASS	0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		47	136	47	136	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25958918	25958918	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:25958918C>T	ENST00000356865.6	-	10	2358	c.2247G>A	c.(2245-2247)atG>atA	p.M749I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	749					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.M749I(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACCACTGACATCCTCTTGC	0.602																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2245-2247)ATG>ATA		ATPase, class V, type 10A							84.0	77.0	79.0					15																	25958918		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25958918C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2247G>A	15.37:g.25958918C>T	ENSP00000349325:p.Met749Ile						p.M749I	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2353	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	749			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2247G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845539	0.91197	.	.	ENSG00000206190	ENST00000356865	D	0.87029	-2.2	4.49	4.49	0.54785	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97564	1.0100	10	0.72032	D	0.01	-38.794	17.5382	0.87840	0.0:1.0:0.0:0.0	.	749	O60312	AT10A_HUMAN	I	749	ENSP00000349325:M749I	ENSP00000349325:M749I	M	-	3	0	ATP10A	23510011	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.475000	0.81041	2.226000	0.72624	0.555000	0.69702	ATG		PASS	0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		26	81	26	81	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28235790	28235790	+	Missense_Mutation	SNP	C	C	A	rs533478642	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:28235790C>A	ENST00000354638.3	-	10	1203	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	OCA2_ENST00000382996.2_Missense_Mutation_p.V350L|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	350			V -> M (in unclassified OCA). {ECO:0000269|PubMed:10649493}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V350L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTTCTGTGCACGATCTGGAAA	0.547									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5	GRCh37	CM000191	OCA2	M		c.(1048-1050)GTG>TTG		oculocutaneous albinism II							140.0	119.0	126.0					15																	28235790		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28235790C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1048G>T	15.37:g.28235790C>A	ENSP00000346659:p.Val350Leu					OCA2_uc010ayv.2_Intron	p.V350L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	10	1158	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	350		V -> M (in unclassified OCA).	Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1048G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438051	0.62955	.	.	ENSG00000104044	ENST00000354638;ENST00000382996	D;D	0.91577	-2.87;-2.87	5.91	4.97	0.65823	Divalent ion symporter (1);	0.060964	0.64402	D	0.000004	D	0.90259	0.6954	L	0.31578	0.945	0.52099	D	0.999948	D	0.57257	0.979	P	0.57720	0.826	D	0.90993	0.4836	10	0.72032	D	0.01	-19.1527	12.3209	0.54983	0.0:0.9142:0.0:0.0858	.	350	Q04671	P_HUMAN	L	350	ENSP00000346659:V350L;ENSP00000372457:V350L	ENSP00000346659:V350L	V	-	1	0	OCA2	25909385	0.998000	0.40836	0.739000	0.30968	0.109000	0.19521	3.952000	0.56691	1.447000	0.47661	0.655000	0.94253	GTG		PASS	0.547	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		59	85	59	85	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29393881	29393881	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:29393881G>C	ENST00000558402.1	+	11	2017	c.1418G>C	c.(1417-1419)cGc>cCc	p.R473P	APBA2_ENST00000558330.1_Missense_Mutation_p.R461P|APBA2_ENST00000411764.1_Missense_Mutation_p.R461P|APBA2_ENST00000558259.1_Missense_Mutation_p.R473P|APBA2_ENST00000561069.1_Missense_Mutation_p.R473P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	473	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.R473P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGCCAGACGCCGCATGCCC	0.587																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)CGC>CCC		amyloid beta A4 precursor protein-binding,							100.0	70.0	80.0					15																	29393881		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393881G>C	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1418G>C	15.37:g.29393881G>C	ENSP00000453293:p.Arg473Pro					APBA2_uc010azj.2_Missense_Mutation_p.R461P|APBA2_uc010uat.1_Missense_Mutation_p.R461P|APBA2_uc001zcl.2_Missense_Mutation_p.R461P|APBA2_uc001zcm.1_Missense_Mutation_p.R165P	p.R473P	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	9	1625	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	473			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1418G>C	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842604	0.91197	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.21543	2.0	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061993	0.64402	D	0.000012	T	0.51210	0.1661	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.996;0.997;0.989;0.995	T	0.60895	-0.7172	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	461;165;461;473	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	P	461;473;165	ENSP00000409312:R461P	ENSP00000219865:R473P	R	+	2	0	APBA2	27181173	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	CGC		PASS	0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		8	24	8	24	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32926224	32926224	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:32926224G>T	ENST00000361627.3	+	10	2048	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	ARHGAP11A_ENST00000565905.1_Silent_p.G253G|ARHGAP11A_ENST00000563864.1_Silent_p.G414G|ARHGAP11A_ENST00000543522.1_Silent_p.G253G|ARHGAP11A_ENST00000567348.1_Silent_p.G442G	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	442					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G442G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCAATCTAGGGAAAAATGGCA	0.353																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(1324-1326)GGG>GGT		Rho GTPase activating protein 11A isoform 1							37.0	36.0	36.0					15																	32926224		2201	4300	6501	SO:0001819	synonymous_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32926224G>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1326G>T	15.37:g.32926224G>T						ARHGAP11A_uc010ubw.1_Silent_p.G253G|ARHGAP11A_uc001zgw.2_Silent_p.G442G|ARHGAP11A_uc001zgx.2_Silent_p.G414G|ARHGAP11A_uc010ubx.1_Silent_p.G253G	p.G442G	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	2048	+		all_lung(180;1.3e-11)	442					B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	c.1326G>T	CCDS10028.1																																																																																				PASS	0.353	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		9	23	9	23	---	---	---	---
DPH6	89978	broad.mit.edu	37	15	35834710	35834710	+	Splice_Site	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:35834710T>A	ENST00000256538.4	-	2	50		c.e2-2		DPH6_ENST00000440392.2_Splice_Site	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.?(2)									TTCCCACCACTAAACAATAAA	0.373																																						uc001zja.2																			2	Unknown(2)		lung(2)		0						c.e2-1		ATP binding domain 4 isoform 1							130.0	122.0	125.0					15																	35834710		2201	4298	6499	SO:0001630	splice_region_variant	89978							g.chr15:35834710T>A		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.24-2A>T	15.37:g.35834710T>A						ATPBD4_uc001ziz.2_5'UTR|ATPBD4_uc001zjb.2_Splice_Site_p.S8_splice	p.S8_splice	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	2	86	-		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)						B3KWG1|Q96HJ6	Splice_Site	SNP	ENST00000256538.4	37	c.24_splice	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510400	0.64522	.	.	ENSG00000134146	ENST00000256538;ENST00000440392	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9284	0.79639	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATPBD4	33622002	1.000000	0.71417	0.983000	0.44433	0.774000	0.43823	7.269000	0.78482	2.158000	0.67659	0.528000	0.53228	.		PASS	0.373	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650	Intron	56	176	56	176	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40628788	40628788	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:40628788C>A	ENST00000559313.1	-	9	1021	c.1006G>T	c.(1006-1008)Ggc>Tgc	p.G336C	C15orf52_ENST00000397536.2_Missense_Mutation_p.G126C|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	336							poly(A) RNA binding (GO:0044822)	p.G336C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CGGGCCCTGCCAGTCAGCCTC	0.642																																						uc001zlh.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1006-1008)GGC>TGC		hypothetical protein LOC388115							88.0	83.0	85.0					15																	40628788		2203	4300	6503	SO:0001583	missense	388115							g.chr15:40628788C>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1006G>T	15.37:g.40628788C>A	ENSP00000453969:p.Gly336Cys					C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.G126C	p.G336C	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	9	1022	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	336					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.1006G>T	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536703	0.85812	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	T	0.47177	0.85	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.67767	0.2928	M	0.71581	2.175	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70245	-0.4925	10	0.72032	D	0.01	-23.1721	14.9467	0.71039	0.0:1.0:0.0:0.0	.	126;336	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	C	336;126	ENSP00000380670:G126C	ENSP00000372135:G336C	G	-	1	0	C15orf52	38416080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.278000	0.58946	2.609000	0.88269	0.462000	0.41574	GGC		PASS	0.642	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		49	143	49	143	---	---	---	---
DISP2	85455	broad.mit.edu	37	15	40660227	40660227	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:40660227C>A	ENST00000267889.3	+	8	2001	c.1914C>A	c.(1912-1914)ccC>ccA	p.P638P	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	638	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.P638P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTGGCTGCCCGCCTCCGCCG	0.766																																						uc001zlk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1912-1914)CCC>CCA		dispatched B							2.0	3.0	3.0					15																	40660227		1909	3721	5630	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40660227C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1914C>A	15.37:g.40660227C>A							p.P638P	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	2003	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	638			SSD.		Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.1914C>A	CCDS10056.1																																																																																				PASS	0.766	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		3	4	3	4	---	---	---	---
RTF1	23168	broad.mit.edu	37	15	41770814	41770814	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:41770814C>A	ENST00000389629.4	+	15	1821	c.1809C>A	c.(1807-1809)atC>atA	p.I603I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	603					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.I478I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGCCTACCATCGTTTCTAATG	0.398																																						uc001zny.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1807-1809)ATC>ATA		Paf1/RNA polymerase II complex component							161.0	163.0	162.0					15																	41770814		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41770814C>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1809C>A	15.37:g.41770814C>A							p.I603I	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	15	1821	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	603					Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1809C>A	CCDS32200.2																																																																																				PASS	0.398	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		5	208	5	208	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42695083	42695083	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:42695083T>G	ENST00000397163.3	+	13	1847	c.1628T>G	c.(1627-1629)gTg>gGg	p.V543G	CAPN3_ENST00000318023.7_Missense_Mutation_p.V543G|CAPN3_ENST00000349748.3_Missense_Mutation_p.V495G|CAPN3_ENST00000357568.3_Missense_Mutation_p.V543G|CAPN3_ENST00000397200.4_Missense_Mutation_p.V31G|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.V456G|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000337571.4_5'Flank	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	543	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V543G(1)|p.V456G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCGGGAGGTGTCCCAGCGC	0.587																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1627-1629)GTG>GGG		calpain 3 isoform a							127.0	102.0	110.0					15																	42695083		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42695083T>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1628T>G	15.37:g.42695083T>G	ENSP00000380349:p.Val543Gly					CAPN3_uc001zpk.1_Missense_Mutation_p.V316G|CAPN3_uc001zpl.1_Missense_Mutation_p.V456G|CAPN3_uc010udf.1_Missense_Mutation_p.V456G|CAPN3_uc010udg.1_Missense_Mutation_p.V408G|CAPN3_uc001zpo.1_Missense_Mutation_p.V543G|CAPN3_uc001zpp.1_Missense_Mutation_p.V495G|CAPN3_uc001zpq.1_Missense_Mutation_p.V31G|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank	p.V543G	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	13	1934	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	543			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1628T>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623847	0.87460	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.076131	0.51477	U	0.000085	D	0.95950	0.8681	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;B	0.71674	0.998;0.988;0.998;0.986;0.988;0.163	D;D;D;P;D;B	0.83275	0.996;0.93;0.995;0.885;0.93;0.33	D	0.96806	0.9593	10	0.87932	D	0	.	14.6272	0.68629	0.0:0.0:0.0:1.0	.	408;456;495;543;543;456	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	G	456;31;543;543;495;543;31	ENSP00000348667:V456G;ENSP00000380349:V543G;ENSP00000350181:V543G;ENSP00000183936:V495G;ENSP00000326281:V543G;ENSP00000380384:V31G	ENSP00000326281:V543G	V	+	2	0	CAPN3	40482375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.799000	0.85936	2.043000	0.60533	0.374000	0.22700	GTG		PASS	0.587	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			49	109	49	109	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43819299	43819299	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:43819299C>G	ENST00000300231.5	+	4	6078	c.5628C>G	c.(5626-5628)ttC>ttG	p.F1876L	MAP1A_ENST00000382031.1_Missense_Mutation_p.F2114L|MAP1A_ENST00000399453.1_Missense_Mutation_p.F1876L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1876					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.F1876L(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)	CTGCACCCTTCTCTTGGGGCA	0.662																																						uc001zrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5626-5628)TTC>TTG		microtubule-associated protein 1A	Estramustine(DB01196)						36.0	40.0	39.0					15																	43819299		1928	4141	6069	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819299C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5628C>G	15.37:g.43819299C>G	ENSP00000300231:p.Phe1876Leu						p.F1876L	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6095	+		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)	1876					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5628C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060953	0.36373	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01871	4.59;4.59;4.59	4.76	2.88	0.33553	.	0.000000	0.35585	N	0.003115	T	0.05640	0.0148	L	0.36672	1.1	0.28730	N	0.902552	D	0.67145	0.996	D	0.73380	0.98	T	0.16541	-1.0399	10	0.37606	T	0.19	-14.1664	8.4025	0.32594	0.0:0.8144:0.0:0.1856	.	1876	P78559	MAP1A_HUMAN	L	2114;1876;1876	ENSP00000371462:F2114L;ENSP00000382380:F1876L;ENSP00000300231:F1876L	ENSP00000300231:F1876L	F	+	3	2	MAP1A	41606591	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	0.690000	0.25451	0.609000	0.30018	0.557000	0.71058	TTC		PASS	0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		20	32	20	32	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48719794	48719794	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:48719794G>A	ENST00000316623.5	-	58	7629	c.7174C>T	c.(7174-7176)Cat>Tat	p.H2392Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2392					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H2392Y(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTCGGCCATGGGGACAGAGT	0.478																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(7174-7176)CAT>TAT		fibrillin 1 precursor							85.0	83.0	84.0					15																	48719794		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48719794G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7174C>T	15.37:g.48719794G>A	ENSP00000325527:p.His2392Tyr					FBN1_uc010beo.1_RNA	p.H2392Y	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	58	7502	-		all_lung(180;0.00279)	2392					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7174C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390463	0.62066	.	.	ENSG00000166147	ENST00000316623	D	0.90444	-2.67	5.44	5.44	0.79542	Matrix fibril-associated (2);	0.169068	0.52532	D	0.000073	T	0.80031	0.4549	N	0.12502	0.225	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73729	-0.3891	10	0.10636	T	0.68	.	12.5838	0.56406	0.0767:0.0:0.9233:0.0	.	2392	P35555	FBN1_HUMAN	Y	2392	ENSP00000325527:H2392Y	ENSP00000325527:H2392Y	H	-	1	0	FBN1	46507086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.653000	0.74382	2.720000	0.93068	0.650000	0.86243	CAT		PASS	0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			47	89	47	89	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48788313	48788313	+	Silent	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:48788313A>G	ENST00000316623.5	-	20	2858	c.2403T>C	c.(2401-2403)gaT>gaC	p.D801D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	801	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D801D(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGTTTTTAGATCAGGTTTGT	0.358																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2401-2403)GAT>GAC		fibrillin 1 precursor							130.0	135.0	133.0					15																	48788313		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788313A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2403T>C	15.37:g.48788313A>G							p.D801D	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2731	-		all_lung(180;0.00279)	801			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.2403T>C	CCDS32232.1																																																																																				PASS	0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			27	84	27	84	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49048734	49048734	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:49048734G>A	ENST00000380950.2	-	20	2898	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	CEP152_ENST00000399334.3_Missense_Mutation_p.S904F|CEP152_ENST00000325747.5_Missense_Mutation_p.S811F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	904					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.S904F(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTAGCTTCAGAAACAGCAAA	0.323																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(2710-2712)TCT>TTT		centrosomal protein 152kDa							35.0	34.0	34.0					15																	49048734		1811	4066	5877	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048734G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2711C>T	15.37:g.49048734G>A	ENSP00000370337:p.Ser904Phe					CEP152_uc001zwz.2_Missense_Mutation_p.S904F|CEP152_uc001zxa.1_Missense_Mutation_p.S811F	p.S904F	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	2745	-		all_lung(180;0.0428)	904			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2711C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461805	0.43736	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55588	0.51;0.52;0.52	5.68	3.75	0.43078	.	0.643630	0.16416	N	0.215362	T	0.54498	0.1862	M	0.65975	2.015	0.30170	N	0.801384	P;P;P	0.49783	0.879;0.928;0.859	P;P;P	0.50708	0.595;0.648;0.595	T	0.51988	-0.8635	10	0.20519	T	0.43	-7.8184	6.8586	0.24054	0.0706:0.1377:0.666:0.1258	.	811;904;904	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	904;811;904	ENSP00000370337:S904F;ENSP00000321000:S811F;ENSP00000382271:S904F	ENSP00000321000:S811F	S	-	2	0	CEP152	46836026	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.194000	0.42668	1.505000	0.48720	0.591000	0.81541	TCT		PASS	0.323	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		24	39	24	39	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51696579	51696579	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:51696579T>C	ENST00000335449.6	+	10	1340	c.1284T>C	c.(1282-1284)gcT>gcC	p.A428A	GLDN_ENST00000396399.2_Silent_p.A304A	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	428	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A428A(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCAATCTAGCTGTAGATGAAA	0.413																																						uc002aba.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1282-1284)GCT>GCC		gliomedin							138.0	141.0	140.0					15																	51696579		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696579T>C	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1284T>C	15.37:g.51696579T>C						GLDN_uc002abb.2_Silent_p.A304A	p.A428A	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1453	+			428			Extracellular (Potential).|Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.1284T>C	CCDS10140.2																																																																																				PASS	0.413	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		100	161	100	161	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51792045	51792045	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:51792045C>T	ENST00000251076.5	-	18	3663	c.3376G>A	c.(3376-3378)Gat>Aat	p.D1126N	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1126N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1126						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.D1126N(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAAATCATCAAGATGAATT	0.373																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(3376-3378)GAT>AAT		Dmx-like 2							75.0	68.0	70.0					15																	51792045		2194	4293	6487	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51792045C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3376G>A	15.37:g.51792045C>T	ENSP00000251076:p.Asp1126Asn					DMXL2_uc010ufy.1_Missense_Mutation_p.D1126N|DMXL2_uc010bfa.2_Intron	p.D1126N	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3601	-			1126					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3376G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633375	0.67015	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.22134	1.97;1.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79108	0.934;0.992	T	0.15321	-1.0441	10	0.51188	T	0.08	.	18.8168	0.92079	0.0:1.0:0.0:0.0	.	1126;1126	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	N	1126	ENSP00000251076:D1126N;ENSP00000441858:D1126N	ENSP00000251076:D1126N	D	-	1	0	DMXL2	49579337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.437000	0.82529	0.591000	0.81541	GAT		PASS	0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		27	50	27	50	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53908224	53908224	+	Missense_Mutation	SNP	G	G	T	rs28470860		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:53908224G>T	ENST00000396328.1	-	15	2418	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	WDR72_ENST00000557913.1_Missense_Mutation_p.L724M|WDR72_ENST00000559418.1_Missense_Mutation_p.L737M|WDR72_ENST00000360509.5_Missense_Mutation_p.L727M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	727								p.L727M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTTTTCTCAGTGTCAGTGTC	0.473																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(2179-2181)CTG>ATG		WD repeat domain 72							106.0	94.0	98.0					15																	53908224		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53908224G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2179C>A	15.37:g.53908224G>T	ENSP00000379619:p.Leu727Met					WDR72_uc010bfi.1_Missense_Mutation_p.L727M	p.L727M	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2221	-			727					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2179C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317002	0.23908	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.40756	1.02;1.02	5.63	2.55	0.30701	.	0.284265	0.29080	N	0.013217	T	0.28433	0.0703	L	0.34521	1.04	0.25215	N	0.989942	B	0.23058	0.079	B	0.25405	0.06	T	0.18650	-1.0330	10	0.56958	D	0.05	.	5.412	0.16354	0.185:0.0:0.5714:0.2436	.	727	Q3MJ13	WDR72_HUMAN	M	727	ENSP00000379619:L727M;ENSP00000353699:L727M	ENSP00000353699:L727M	L	-	1	2	WDR72	51695516	0.251000	0.23961	0.983000	0.44433	0.770000	0.43624	0.568000	0.23623	1.225000	0.43566	0.563000	0.77884	CTG		PASS	0.473	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		26	71	26	71	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59323142	59323142	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:59323142G>C	ENST00000557998.1	+	2	408	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	RNF111_ENST00000561186.1_Missense_Mutation_p.E41Q|RNF111_ENST00000348370.4_Missense_Mutation_p.E41Q|RNF111_ENST00000434298.1_Missense_Mutation_p.E41Q|RNF111_ENST00000559209.1_Missense_Mutation_p.E41Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	41					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E41Q(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTTGCATCCAGAGCCCATTGG	0.428																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(121-123)GAG>CAG		ring finger protein 111							69.0	69.0	69.0					15																	59323142		2192	4292	6484	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323142G>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.121G>C	15.37:g.59323142G>C	ENSP00000452732:p.Glu41Gln					RNF111_uc002afs.2_Missense_Mutation_p.E41Q|RNF111_uc002aft.2_Missense_Mutation_p.E41Q|RNF111_uc002afu.2_Missense_Mutation_p.E41Q|RNF111_uc002afw.2_Missense_Mutation_p.E41Q	p.E41Q	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	400	+			41					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.121G>C	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393044	0.42410	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19938	2.11;2.11	5.58	3.6	0.41247	.	0.105026	0.64402	N	0.000006	T	0.24470	0.0593	L	0.54323	1.7	0.48395	D	0.999645	B;B;B	0.18461	0.028;0.017;0.028	B;B;B	0.26094	0.066;0.018;0.041	T	0.03008	-1.1083	10	0.42905	T	0.14	-6.8399	15.2814	0.73787	0.0:0.3362:0.6638:0.0	.	41;41;41	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Q	41	ENSP00000288199:E41Q;ENSP00000393641:E41Q	ENSP00000288199:E41Q	E	+	1	0	RNF111	57110434	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.859000	0.69539	0.590000	0.29694	0.491000	0.48974	GAG		PASS	0.428	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		17	41	17	41	---	---	---	---
PLEKHO2	80301	broad.mit.edu	37	15	65153733	65153733	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:65153733G>A	ENST00000323544.4	+	5	570	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	AC069368.3_ENST00000437723.1_Missense_Mutation_p.G148S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	148								p.G148S(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGTGCGAGGGGGCCAGCGACG	0.637																																						uc002anv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(442-444)GGC>AGC		pleckstrin homology domain containing, family O							27.0	25.0	26.0					15																	65153733		2201	4299	6500	SO:0001583	missense	80301							g.chr15:65153733G>A	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.442G>A	15.37:g.65153733G>A	ENSP00000326706:p.Gly148Ser					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.G98S	p.G148S	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			5	576	+			148					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.442G>A	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398693	0.62177	.	.	ENSG00000249240;ENSG00000241839;ENSG00000241839	ENST00000437723;ENST00000323544;ENST00000546008	T;T	0.20738	2.05;2.05	5.03	5.03	0.67393	.	0.239518	0.42053	D	0.000767	T	0.11836	0.0288	N	0.08118	0	0.30082	N	0.809072	B;P	0.45348	0.188;0.856	B;B	0.41374	0.083;0.355	T	0.03354	-1.1045	10	0.62326	D	0.03	.	10.8826	0.46948	0.0:0.0:0.8125:0.1875	.	98;148	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	148	ENSP00000397942:G148S;ENSP00000326706:G148S	ENSP00000397942:G148S	G	+	1	0	PLEKHO2;AC069368.3	62940786	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	2.028000	0.41088	2.619000	0.88677	0.462000	0.41574	GGC		PASS	0.637	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		8	18	8	18	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66044854	66044854	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:66044854T>G	ENST00000431932.2	-	4	632	c.424A>C	c.(424-426)Atc>Ctc	p.I142L	DENND4A_ENST00000443035.3_Missense_Mutation_p.I142L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	142	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I142L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CGGTAAGTGATATAAATTCTT	0.418																																						uc002aph.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(424-426)ATC>CTC		DENN/MADD domain containing 4A isoform 2							81.0	74.0	76.0					15																	66044854		1843	4078	5921	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66044854T>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.424A>C	15.37:g.66044854T>G	ENSP00000396830:p.Ile142Leu					DENND4A_uc002api.2_Missense_Mutation_p.I142L|DENND4A_uc002apj.3_Missense_Mutation_p.I142L|DENND4A_uc010ujj.1_Missense_Mutation_p.I142L	p.I142L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			4	802	-			142			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.424A>C	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	4.480	0.089040	0.08583	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.22539	1.95;1.95	5.1	-0.00711	0.14010	MABP domain (1);	0.107611	0.64402	D	0.000007	T	0.08802	0.0218	N	0.13272	0.32	0.80722	D	1	B;B;B	0.29085	0.0;0.232;0.198	B;B;B	0.26614	0.001;0.071;0.047	T	0.30504	-0.9976	10	0.05959	T	0.93	.	10.4216	0.44354	0.0:0.2405:0.0:0.7595	.	142;142;142	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	142	ENSP00000391167:I142L;ENSP00000396830:I142L	ENSP00000396830:I142L	I	-	1	0	DENND4A	63831908	0.998000	0.40836	0.970000	0.41538	0.966000	0.64601	1.370000	0.34238	0.035000	0.15519	-0.371000	0.07208	ATC		PASS	0.418	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		15	47	15	47	---	---	---	---
SKOR1	390598	broad.mit.edu	37	15	68119422	68119422	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:68119422C>T	ENST00000380035.2	+	2	1314	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	SKOR1_ENST00000341418.5_Missense_Mutation_p.P526L|SKOR1_ENST00000554054.1_Missense_Mutation_p.P391L|SKOR1_ENST00000389002.1_Missense_Mutation_p.P375L|SKOR1_ENST00000554240.1_Missense_Mutation_p.P380L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	419					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.P375L(1)|p.P419L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCGGGCGAGCCAAAGGGCGGT	0.726																																						uc002aqy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1123-1125)CCA>CTA		transcriptional corepressor Corl1							13.0	16.0	15.0					15																	68119422		2123	4232	6355	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68119422C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1256C>T	15.37:g.68119422C>T	ENSP00000369374:p.Pro419Leu						p.P375L	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			3	1124	+			419					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.1124C>T		.	.	.	.	.	.	.	.	.	.	C	14.96	2.691231	0.48097	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	3.27	3.27	0.37495	.	0.245896	0.26072	N	0.026515	T	0.17959	0.0431	L	0.34521	1.04	0.31963	N	0.608208	D	0.54964	0.969	P	0.54889	0.763	T	0.05321	-1.0892	10	0.66056	D	0.02	-8.6214	10.1892	0.43017	0.0:1.0:0.0:0.0	.	375	P84550-3	.	L	526;380;391;419;375	ENSP00000343200:P526L;ENSP00000451193:P380L;ENSP00000452361:P391L;ENSP00000369374:P419L;ENSP00000373654:P375L	ENSP00000343200:P526L	P	+	2	0	SKOR1	65906476	0.875000	0.30112	0.050000	0.19076	0.685000	0.39939	3.308000	0.51896	1.808000	0.52836	0.462000	0.41574	CCA		PASS	0.726	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		8	40	8	40	---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68582929	68582929	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:68582929G>C	ENST00000306917.4	+	2	1848	c.1233G>C	c.(1231-1233)ttG>ttC	p.L411F		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	411					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.L411F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AATGTGTTTTGAGATGCAGTG	0.363																																						uc002arg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)TTG>TTC		fem-1 homolog b							87.0	86.0	86.0					15																	68582929		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582929G>C		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1233G>C	15.37:g.68582929G>C	ENSP00000307298:p.Leu411Phe					FEM1B_uc002arh.2_Missense_Mutation_p.L331F	p.L411F	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			2	1848	+			411					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1233G>C	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119720	0.56613	.	.	ENSG00000169018	ENST00000306917	T	0.46819	0.86	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.53662	-0.8407	10	0.34782	T	0.22	2.7601	19.36	0.94432	0.0:0.0:1.0:0.0	.	411	Q9UK73	FEM1B_HUMAN	F	411	ENSP00000307298:L411F	ENSP00000307298:L411F	L	+	3	2	FEM1B	66369983	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.951000	0.56684	2.826000	0.97356	0.491000	0.48974	TTG		PASS	0.363	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			4	162	4	162	---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74738472	74738472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:74738472G>A	ENST00000567435.1	-	11	1565	c.1102C>T	c.(1102-1104)Caa>Taa	p.Q368*	UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q368*|UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q368*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q368*|UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q368*			Q96S82	UBL7_HUMAN	ubiquitin-like 7	368	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.							p.Q368*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGGGCTGCTTGGATGTCCCCA	0.642																																						uc002axw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1102-1104)CAA>TAA		ubiquitin-like 7							59.0	65.0	63.0					15																	74738472		2197	4296	6493	SO:0001587	stop_gained	84993						protein binding	g.chr15:74738472G>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.1102C>T	15.37:g.74738472G>A	ENSP00000457703:p.Gln368*					UBL7_uc002axx.1_Nonsense_Mutation_p.Q408*|UBL7_uc010bjr.1_Nonsense_Mutation_p.Q259*|UBL7_uc002axy.1_Nonsense_Mutation_p.Q368*|UBL7_uc002axz.1_Nonsense_Mutation_p.Q368*	p.Q368*	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			11	1264	-			368			UBA.		D3DW57|Q96I03	Nonsense_Mutation	SNP	ENST00000567435.1	37	c.1102C>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997341	0.97184	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	.	.	.	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.5285	14.0486	0.64719	0.0737:0.0:0.9263:0.0	.	.	.	.	X	368	.	ENSP00000354883:Q368X	Q	-	1	0	UBL7	72525525	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.813000	0.86123	2.642000	0.89623	0.655000	0.94253	CAA		PASS	0.642	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		53	89	53	89	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75650580	75650580	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:75650580T>A	ENST00000267978.5	-	21	2555	c.2509A>T	c.(2509-2511)Acc>Tcc	p.T837S	MAN2C1_ENST00000569482.1_Missense_Mutation_p.T837S|RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000565683.1_Missense_Mutation_p.T854S|MAN2C1_ENST00000563622.1_Missense_Mutation_p.T738S	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	837					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.T837S(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGTAGTGGGTAGGTCGCTGC	0.597																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2509-2511)ACC>TCC		mannosidase, alpha, class 2C, member 1							112.0	91.0	98.0					15																	75650580		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75650580T>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.2509A>T	15.37:g.75650580T>A	ENSP00000267978:p.Thr837Ser					MAN2C1_uc002bag.2_Missense_Mutation_p.T837S|MAN2C1_uc002bah.2_Missense_Mutation_p.T854S|MAN2C1_uc010bkk.2_Missense_Mutation_p.T738S	p.T837S	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			21	2526	-			837					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2509A>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086431	0.94100	.	.	ENSG00000140400	ENST00000267978	D	0.81996	-1.56	5.48	5.48	0.80851	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	H	0.94808	3.585	0.80722	D	1	P;D	0.59767	0.952;0.986	P;P	0.61275	0.825;0.886	D	0.94447	0.7664	10	0.72032	D	0.01	-30.1042	14.7358	0.69414	0.0:0.0:0.0:1.0	.	837;837	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	S	837	ENSP00000267978:T837S	ENSP00000267978:T837S	T	-	1	0	MAN2C1	73437633	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.797000	0.85911	2.091000	0.63221	0.459000	0.35465	ACC		PASS	0.597	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			17	77	17	77	---	---	---	---
SH2D7	646892	broad.mit.edu	37	15	78393758	78393758	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:78393758C>T	ENST00000328828.5	+	5	1163	c.1163C>T	c.(1162-1164)cCa>cTa	p.P388L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P252L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	388								p.P252L(1)|p.P388L(1)		endometrium(2)|kidney(2)|lung(3)	7						GCCAGGGCCCCACATCCTGGG	0.612																																						uc010blb.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1162-1164)CCA>CTA		SH2 domain containing 7							21.0	22.0	22.0					15																	78393758		1902	4129	6031	SO:0001583	missense	646892							g.chr15:78393758C>T		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.1163C>T	15.37:g.78393758C>T	ENSP00000327846:p.Pro388Leu						p.P388L	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN			5	1163	+			388						Missense_Mutation	SNP	ENST00000328828.5	37	c.1163C>T	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281248	0.40394	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.37235	1.21;1.36	4.83	0.441	0.16577	.	0.495159	0.17090	N	0.187426	T	0.16599	0.0399	N	0.17082	0.46	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.11567	-1.0582	10	0.40728	T	0.16	0.1548	1.3455	0.02162	0.1767:0.4548:0.1718:0.1967	.	388	A6NKC9	SH2D7_HUMAN	L	252;388	ENSP00000386676:P252L;ENSP00000327846:P388L	ENSP00000327846:P388L	P	+	2	0	SH2D7	76180813	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	0.138000	0.16016	0.183000	0.20059	0.655000	0.94253	CCA		PASS	0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		11	28	11	28	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78757687	78757687	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:78757687G>C	ENST00000258886.8	+	4	516	c.367G>C	c.(367-369)Gat>Cat	p.D123H	IREB2_ENST00000560440.1_Missense_Mutation_p.D123H|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	123					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.D123H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGTCCGACAGATCTTACAGT	0.408																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GAT>CAT		iron-responsive element binding protein 2							154.0	132.0	139.0					15																	78757687		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78757687G>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.367G>C	15.37:g.78757687G>C	ENSP00000258886:p.Asp123His					IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.D123H	p.D123H	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	4	529	+			123					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.367G>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003407	0.93287	.	.	ENSG00000136381	ENST00000258886	T	0.18338	2.22	5.69	5.69	0.88448	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.40270	-0.9572	10	0.87932	D	0	-2.0471	19.8145	0.96560	0.0:0.0:1.0:0.0	.	123;123	P48200;Q8WVK6	IREB2_HUMAN;.	H	123	ENSP00000258886:D123H	ENSP00000258886:D123H	D	+	1	0	IREB2	76544742	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.666000	0.98612	2.683000	0.91414	0.563000	0.77884	GAT		PASS	0.408	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		16	82	16	82	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79341890	79341890	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:79341890G>A	ENST00000419573.3	-	4	846	c.572C>T	c.(571-573)aCc>aTc	p.T191I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T191I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	191					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T191I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACAGTCTGGGTGGACTGGAT	0.547																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(571-573)ACC>ATC		Ras protein-specific guanine							128.0	101.0	110.0					15																	79341890		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79341890G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.572C>T	15.37:g.79341890G>A	ENSP00000405963:p.Thr191Ile					RASGRF1_uc002bep.2_Missense_Mutation_p.T191I|RASGRF1_uc010blm.1_Missense_Mutation_p.T113I|RASGRF1_uc002ber.3_Missense_Mutation_p.T191I	p.T191I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			4	947	-			191					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.572C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583562	0.28268	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.45668	0.89	5.15	2.01	0.26516	.	0.166975	0.23483	U	0.047695	T	0.19927	0.0479	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.001;0.003	T	0.04855	-1.0922	10	0.21540	T	0.41	.	4.5025	0.11870	0.0932:0.1548:0.5931:0.1589	.	191;191;191;191	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	I	191	ENSP00000405963:T191I	ENSP00000378224:T191I	T	-	2	0	RASGRF1	77128945	0.194000	0.23325	0.999000	0.59377	0.975000	0.68041	-0.063000	0.11655	0.718000	0.32166	0.655000	0.94253	ACC		PASS	0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		23	45	23	45	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91037999	91037999	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:91037999G>T	ENST00000268182.5	+	36	4807	c.4683G>T	c.(4681-4683)ctG>ctT	p.L1561L	IQGAP1_ENST00000560738.1_Silent_p.L989L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1561	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.L1561L(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTTCTCTGAAATATACAG	0.348																																						uc002bpl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(4681-4683)CTG>CTT		IQ motif containing GTPase activating protein 1							136.0	141.0	139.0					15																	91037999		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91037999G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4683G>T	15.37:g.91037999G>T						IQGAP1_uc010uqg.1_Silent_p.L182L	p.L1561L	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		36	4784	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1561			C2.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.4683G>T	CCDS10362.1																																																																																				PASS	0.348	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		60	111	60	111	---	---	---	---
SLC9A3R2	9351	broad.mit.edu	37	16	2090045	2090045	+	IGR	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:2090045C>G	ENST00000424542.2	+	0	2194				NTHL1_ENST00000219066.1_Missense_Mutation_p.E273D|NTHL1_ENST00000562951.1_5'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.E273D(1)		central_nervous_system(1)|endometrium(1)	2						CGTGCCACAGCTCCCTGTGGG	0.652																																					Ovarian(69;105 1552 17724 23473)	uc002col.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(817-819)GAG>GAC	BER_DNA_glycosylases	nth endonuclease III-like 1							50.0	54.0	53.0					16																	2090045		2198	4300	6498	SO:0001628	intergenic_variant	4913				depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2090045C>G	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2090045C>G						NTHL1_uc002com.1_Missense_Mutation_p.E274D	p.E273D	NM_002528	NP_002519	P78549	NTHL1_HUMAN			6	838	-			273					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.819G>C	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	1.649	-0.514529	0.04200	.	.	ENSG00000065057	ENST00000219066	D	0.92099	-2.97	3.92	0.628	0.17681	HhH-GPD domain (1);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.696994	0.14326	N	0.326692	D	0.82848	0.5126	L	0.41415	1.275	0.32246	N	0.572024	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.68284	-0.5449	10	0.12430	T	0.62	-6.8968	1.569	0.02611	0.1546:0.3015:0.3488:0.1952	.	273;273	E5KTI5;P78549	.;NTHL1_HUMAN	D	273	ENSP00000219066:E273D	ENSP00000219066:E273D	E	-	3	2	NTHL1	2030046	0.827000	0.29292	0.980000	0.43619	0.228000	0.25075	-0.130000	0.10498	-0.019000	0.14055	0.401000	0.26515	GAG		PASS	0.652	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			4	136	4	136	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2326794	2326794	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:2326794G>A	ENST00000301732.5	-	33	5696	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	MIR4717_ENST00000584656.1_RNA|ABCA3_ENST00000382381.3_Silent_p.L1608L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1666					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L1666L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCTTTCTCCAGAATACCGAAA	0.587																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4996-4998)CTG>TTG		ATP-binding cassette, sub-family A member 3							58.0	58.0	58.0					16																	2326794		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2326794G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4996C>T	16.37:g.2326794G>A						ABCA3_uc010bsk.1_Silent_p.L1608L	p.L1666L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			33	5708	-		Ovarian(90;0.17)	1666					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4996C>T	CCDS10466.1																																																																																				PASS	0.587	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		12	65	12	65	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2349432	2349432	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:2349432C>T	ENST00000301732.5	-	14	2413	c.1713G>A	c.(1711-1713)ggG>ggA	p.G571G	ABCA3_ENST00000382381.3_Silent_p.G513G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	571	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G571G(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGTGGTCTTCCCGGCACCGT	0.647																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(1711-1713)GGG>GGA		ATP-binding cassette, sub-family A member 3							142.0	93.0	110.0					16																	2349432		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2349432C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1713G>A	16.37:g.2349432C>T						ABCA3_uc010bsk.1_Silent_p.G513G|ABCA3_uc010bsl.1_Silent_p.G571G	p.G571G	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			14	2425	-		Ovarian(90;0.17)	571			ABC transporter 1.|ATP 1 (Potential).		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1713G>A	CCDS10466.1																																																																																				PASS	0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		29	139	29	139	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815055	2815055	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:2815055G>A	ENST00000301740.8	+	11	5075	c.4526G>A	c.(4525-4527)tGt>tAt	p.C1509Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1509	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.C1509Y(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						AACAACAAGTGTCTTACCCCC	0.537																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4525-4527)TGT>TAT		splicing coactivator subunit SRm300							133.0	136.0	135.0					16																	2815055		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815055G>A	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.4526G>A	16.37:g.2815055G>A	ENSP00000301740:p.Cys1509Tyr					SRRM2_uc002crj.1_Missense_Mutation_p.C1413Y|SRRM2_uc002crl.1_Missense_Mutation_p.C1509Y|SRRM2_uc010bsu.1_Missense_Mutation_p.C1413Y	p.C1509Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	5075	+			1509			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4526G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276387	0.40294	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26660	1.72	5.9	4.9	0.64082	.	0.529046	0.19402	N	0.115155	T	0.20129	0.0484	N	0.22421	0.69	0.26302	N	0.977951	P	0.34462	0.454	B	0.34873	0.191	T	0.18053	-1.0349	10	0.66056	D	0.02	0.1776	14.2652	0.66113	0.0:0.15:0.85:0.0	.	1509	Q9UQ35	SRRM2_HUMAN	Y	1509;1509;761	ENSP00000301740:C1509Y	ENSP00000301740:C1509Y	C	+	2	0	SRRM2	2755056	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.623000	0.46435	2.806000	0.96561	0.655000	0.94253	TGT		PASS	0.537	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			51	196	51	196	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3140292	3140292	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:3140292G>A	ENST00000252463.2	-	5	1065	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ZSCAN10_ENST00000538082.2_Silent_p.C244C|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	326					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C326C(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGCTCTTCCCGCAGCAAAGGC	0.697																																						uc002ctv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(976-978)TGC>TGT		zinc finger and SCAN domain containing 10							25.0	30.0	28.0					16																	3140292		2168	4231	6399	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140292G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.978C>T	16.37:g.3140292G>A						ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.C244C|ZSCAN10_uc002ctx.1_Silent_p.C254C	p.C326C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1066	-			326			C2H2-type 2.		B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.978C>T	CCDS10493.1																																																																																				PASS	0.697	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		19	70	19	70	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3641118	3641118	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:3641118C>G	ENST00000294008.3	-	12	3161	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	841	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.E841Q(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTTGATCTTCTTCGTGGTCC	0.478								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2521-2523)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							166.0	168.0	167.0					16																	3641118		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641118C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2521G>C	16.37:g.3641118C>G	ENSP00000294008:p.Glu841Gln						p.E841Q	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3148	-			841			Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2521G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790420	0.50102	.	.	ENSG00000188827	ENST00000294008	T	0.01359	4.98	5.57	5.57	0.84162	.	0.241437	0.35708	N	0.003027	T	0.05868	0.0153	L	0.50333	1.59	0.28280	N	0.924023	D	0.63880	0.993	P	0.60949	0.881	T	0.01549	-1.1327	10	0.66056	D	0.02	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	841	Q8IY92	SLX4_HUMAN	Q	841	ENSP00000294008:E841Q	ENSP00000294008:E841Q	E	-	1	0	SLX4	3581119	0.989000	0.36119	0.992000	0.48379	0.035000	0.12851	4.184000	0.58323	2.619000	0.88677	0.561000	0.74099	GAA		PASS	0.478	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		9	179	9	179	---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4810574	4810575	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:4810574_4810575CC>AA	ENST00000219478.6	-	5	977_978	c.678_679GG>TT	c.(676-681)ttGGag>ttTTag	p.226_227LE>F*	ZNF500_ENST00000545009.1_Nonsense_Mutation_p.226_227LE>F*			O60304	ZN500_HUMAN	zinc finger protein 500	226	KRAB.				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.L226F(1)|p.E227*(1)|p.L226_E227>F*(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCACGTCCTCCAAGTTCACGG	0.614																																						uc002cxp.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(2)|skin(1)	3						c.(679-681)GAG>TAG|c.(676-678)TTG>TTT		zinc finger protein 500																																				SO:0001587	stop_gained	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4810574C>A|g.chr16:4810575C>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.678_679delinsAA	16.37:g.4810574_4810575delinsAA	ENSP00000219478:p.L226_E227delinsF*					ZNF500_uc002cxo.1_Nonsense_Mutation_p.E19*|ZNF500_uc010uxt.1_Nonsense_Mutation_p.E227*|ZNF500_uc002cxo.1_Missense_Mutation_p.L18F|ZNF500_uc010uxt.1_Missense_Mutation_p.L226F	p.E227*|p.L226F	NM_021646	NP_067678	O60304	ZN500_HUMAN			5	926|925	-			227|226			KRAB.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000219478.6	37	c.679G>T|c.678G>T	CCDS32383.1																																																																																				PASS	0.614	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		21|20	99|98	20	98	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9934639	9934639	+	Missense_Mutation	SNP	C	C	A	rs368188808		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:9934639C>A	ENST00000396573.2	-	8	1825	c.1516G>T	c.(1516-1518)Gtc>Ttc	p.V506F	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V349F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V506F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V506F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V506F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V506F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	506					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V506F(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTGCCATGACTGCCCGTTGA	0.443																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1516-1518)GTC>TTC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						87.0	68.0	74.0					16																	9934639		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934639C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1516G>T	16.37:g.9934639C>A	ENSP00000379818:p.Val506Phe					GRIN2A_uc010uym.1_Missense_Mutation_p.V506F|GRIN2A_uc010uyn.1_Missense_Mutation_p.V349F|GRIN2A_uc002czr.3_Missense_Mutation_p.V506F	p.V506F	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			7	2064	-			506			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1516G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030886	0.54790	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.3	5.3	0.74995	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.058074	0.64402	D	0.000002	T	0.28797	0.0714	N	0.08118	0	0.80722	D	1	P;D;D	0.61697	0.901;0.958;0.99	P;P;P	0.62382	0.632;0.847;0.901	T	0.21177	-1.0253	9	.	.	.	.	17.9735	0.89120	0.0:1.0:0.0:0.0	.	349;506;506	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	F	506;506;349;506;506	ENSP00000379818:V506F;ENSP00000385872:V506F;ENSP00000441572:V349F;ENSP00000332549:V506F;ENSP00000379820:V506F	.	V	-	1	0	GRIN2A	9842140	0.984000	0.35163	0.547000	0.28179	0.142000	0.21351	3.103000	0.50298	2.469000	0.83416	0.655000	0.94253	GTC		PASS	0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			42	33	42	33	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	10032171	10032171	+	Missense_Mutation	SNP	G	G	T	rs387906637		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:10032171G>T	ENST00000396573.2	-	4	961	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q61K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q218K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q218K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q218K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q218K|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	218					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Q218K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCTTCAGCTGGACTTGTGTC	0.517																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(652-654)CAG>AAG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						119.0	106.0	110.0					16																	10032171		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032171G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.652C>A	16.37:g.10032171G>T	ENSP00000379818:p.Gln218Lys					GRIN2A_uc010uym.1_Missense_Mutation_p.Q218K|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q61K|GRIN2A_uc002czr.3_Missense_Mutation_p.Q218K	p.Q218K	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			3	1200	-			218			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.652C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	g	14.12	2.441945	0.43326	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.389589	0.28958	N	0.013593	D	0.83105	0.5182	M	0.82323	2.585	0.46874	D	0.999238	B;B;B	0.30406	0.012;0.078;0.278	B;B;B	0.32090	0.032;0.091;0.14	T	0.81371	-0.0963	9	.	.	.	.	18.3669	0.90394	0.0:0.0:1.0:0.0	.	61;218;218	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	218;218;61;218;218	ENSP00000379818:Q218K;ENSP00000385872:Q218K;ENSP00000441572:Q61K;ENSP00000332549:Q218K;ENSP00000379820:Q218K	.	Q	-	1	0	GRIN2A	9939672	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.115000	0.77110	2.644000	0.89710	0.561000	0.74099	CAG		PASS	0.517	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			20	103	20	103	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17211612	17211612	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:17211612C>G	ENST00000261381.6	-	11	2532	c.2448G>C	c.(2446-2448)ctG>ctC	p.L816L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	816					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.L816L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCAGGCCTCAGGGGCAAGT	0.552																																						uc002dfa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2446-2448)CTG>CTC		xylosyltransferase I							108.0	106.0	106.0					16																	17211612		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211612C>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2448G>C	16.37:g.17211612C>G							p.L816L	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2533	-			816			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2448G>C	CCDS10569.1																																																																																				PASS	0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		15	50	15	50	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19033093	19033093	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:19033093C>T	ENST00000304381.5	+	4	733	c.603C>T	c.(601-603)ttC>ttT	p.F201F	TMC7_ENST00000421369.3_Silent_p.F91F|TMC7_ENST00000569532.1_Silent_p.F201F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	201					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.F201F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACAGCAGCTTCGTGCTCATTC	0.423																																						uc002dfq.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(601-603)TTC>TTT		transmembrane channel-like 7 isoform a							147.0	119.0	128.0					16																	19033093		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19033093C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.603C>T	16.37:g.19033093C>T						TMC7_uc010vao.1_Silent_p.F201F|TMC7_uc002dfp.2_Silent_p.F201F|TMC7_uc010vap.1_Silent_p.F91F	p.F201F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			4	733	+			201			Cytoplasmic (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.603C>T	CCDS10573.1																																																																																				PASS	0.423	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	108	4	108	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20482472	20482472	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:20482472G>T	ENST00000573854.1	+	5	788	c.674G>T	c.(673-675)aGt>aTt	p.S225I	ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000417235.2_Missense_Mutation_p.S146I|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S225I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S225I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.S225I	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	225					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.S225I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGTGGGACCAGTGGTCTTCCC	0.512																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(673-675)AGT>ATT		acyl-CoA synthetase medium-chain family member							92.0	83.0	86.0					16																	20482472		2202	4280	6482	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482472G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.674G>T	16.37:g.20482472G>T	ENSP00000459451:p.Ser225Ile					ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Missense_Mutation_p.S146I|ACSM2A_uc002dhf.3_Missense_Mutation_p.S225I|ACSM2A_uc002dhg.3_Missense_Mutation_p.S225I|ACSM2A_uc010vay.1_Missense_Mutation_p.S146I	p.S225I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			6	913	+			225			ATP.		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.674G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036395	0.35893	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000396104	T;T;T	0.52295	0.67;0.67;0.67	4.04	1.87	0.25490	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.536026	0.17074	N	0.188057	T	0.46580	0.1400	M	0.62723	1.935	0.80722	D	1	P;P	0.41978	0.645;0.767	B;B	0.42163	0.229;0.378	T	0.51639	-0.8680	10	0.87932	D	0	-7.0228	10.6631	0.45714	0.0:0.5912:0.4088:0.0	.	146;225	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	I	146;225;225	ENSP00000392169:S146I;ENSP00000219054:S225I;ENSP00000379411:S225I	ENSP00000219054:S225I	S	+	2	0	ACSM2A	20389973	0.352000	0.24895	0.919000	0.36401	0.629000	0.37895	0.617000	0.24359	0.651000	0.30788	0.298000	0.19748	AGT		PASS	0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		45	72	45	72	---	---	---	---
THUMPD1	55623	broad.mit.edu	37	16	20749105	20749105	+	Missense_Mutation	SNP	C	C	T	rs373883584		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:20749105C>T	ENST00000381337.2	-	3	924	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	THUMPD1_ENST00000431224.2_Missense_Mutation_p.G280R|THUMPD1_ENST00000396083.2_Missense_Mutation_p.G194R	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	194	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						poly(A) RNA binding (GO:0044822)	p.G194R(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGAAATGTCCCTTTGTTTGGA	0.363																																						uc002dho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)GGG>AGG		THUMP domain containing 1							127.0	123.0	125.0					16																	20749105		2201	4300	6501	SO:0001583	missense	55623							g.chr16:20749105C>T	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.580G>A	16.37:g.20749105C>T	ENSP00000370741:p.Gly194Arg					THUMPD1_uc010vaz.1_Missense_Mutation_p.G47R|THUMPD1_uc002dhp.2_Missense_Mutation_p.G194R	p.G194R	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN			3	718	-			194			THUMP.		Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	c.580G>A	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500458	0.85176	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.48836	0.83;0.8;0.83	5.67	5.67	0.87782	THUMP (3);	0.108239	0.64402	D	0.000008	T	0.54143	0.1840	L	0.35487	1.065	0.49389	D	0.999784	D	0.69078	0.997	D	0.70716	0.97	T	0.40156	-0.9578	10	0.12766	T	0.61	.	14.9726	0.71246	0.0:0.9297:0.0:0.0703	.	194	Q9NXG2	THUM1_HUMAN	R	194;280;194	ENSP00000370741:G194R;ENSP00000392282:G280R;ENSP00000379392:G194R	ENSP00000370741:G194R	G	-	1	0	THUMPD1	20656606	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.772000	0.68889	2.675000	0.91044	0.561000	0.74099	GGG		PASS	0.363	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		27	97	27	97	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976398	20976398	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:20976398G>C	ENST00000261383.3	-	53	8807	c.8808C>G	c.(8806-8808)ctC>ctG	p.L2936L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2936	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L2936L(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGGGCCTGGAGCCGATCTA	0.522																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(8806-8808)CTC>CTG		dynein, axonemal, heavy chain 3							190.0	181.0	184.0					16																	20976398		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976398G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8808C>G	16.37:g.20976398G>C						DNAH3_uc010vbd.1_Silent_p.L371L	p.L2936L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8808	-			2936			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8808C>G	CCDS10594.1																																																																																				PASS	0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		100	312	100	312	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22269837	22269837	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:22269837G>A	ENST00000263026.5	+	10	1526	c.1052G>A	c.(1051-1053)aGa>aAa	p.R351K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	351					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.R351K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCATCTTGAGAGGAACAGAG	0.532																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1051-1053)AGA>AAA		elongation factor-2 kinase							72.0	79.0	77.0					16																	22269837		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22269837G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1052G>A	16.37:g.22269837G>A	ENSP00000263026:p.Arg351Lys					EEF2K_uc002dkh.2_RNA	p.R351K	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	10	1537	+			351					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1052G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617982	0.87359	.	.	ENSG00000103319	ENST00000263026	T	0.25085	1.82	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	L	0.34521	1.04	0.80722	D	1	P	0.48503	0.911	B	0.42112	0.376	T	0.00981	-1.1492	10	0.46703	T	0.11	-22.3615	20.0693	0.97712	0.0:0.0:1.0:0.0	.	351	O00418	EF2K_HUMAN	K	351	ENSP00000263026:R351K	ENSP00000263026:R351K	R	+	2	0	EEF2K	22177338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.313000	0.89978	2.758000	0.94735	0.563000	0.77884	AGA		PASS	0.532	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		40	65	40	65	---	---	---	---
LCMT1	51451	broad.mit.edu	37	16	25123230	25123230	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:25123230C>G	ENST00000399069.3	+	1	181	c.26C>G	c.(25-27)tCt>tGt	p.S9C	LCMT1_ENST00000380966.4_Missense_Mutation_p.S9C|RP11-449H11.1_ENST00000563962.1_lincRNA	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	9					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S9C(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGGGAATCCTCTATCACCTCC	0.682																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)TCT>TGT		leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)						27.0	30.0	29.0					16																	25123230		2011	4169	6180	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25123230C>G	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.26C>G	16.37:g.25123230C>G	ENSP00000382021:p.Ser9Cys					LCMT1_uc002dny.1_Missense_Mutation_p.S9C|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR|LCMT1_uc002dnw.1_RNA	p.S9C	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	1	184	+			9					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.26C>G	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932983	0.34096	.	.	ENSG00000205629	ENST00000399069;ENST00000380966	T;T	0.47177	1.86;0.85	4.14	3.16	0.36331	.	1281.310000	0.00166	N	0.000000	T	0.53045	0.1772	M	0.61703	1.905	0.09310	N	1	P;P	0.48407	0.91;0.855	B;B	0.43575	0.424;0.243	T	0.45145	-0.9281	10	0.59425	D	0.04	.	9.8182	0.40865	0.0:0.7899:0.2101:0.0	.	9;9	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	C	9	ENSP00000382021:S9C;ENSP00000370353:S9C	ENSP00000370353:S9C	S	+	2	0	LCMT1	25030731	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.975000	0.29449	1.029000	0.39812	0.563000	0.77884	TCT		PASS	0.682	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		6	36	6	36	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27786317	27786317	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:27786317A>C	ENST00000261588.4	+	24	4380	c.4361A>C	c.(4360-4362)gAc>gCc	p.D1454A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1454						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1454A(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTGGGCGGGGACGTCCGCACC	0.627																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(4360-4362)GAC>GCC		hypothetical protein LOC23247							94.0	73.0	80.0					16																	27786317		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27786317A>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4361A>C	16.37:g.27786317A>C	ENSP00000261588:p.Asp1454Ala						p.D1454A	NM_015202	NP_056017	O60303	K0556_HUMAN			24	4385	+			1454					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4361A>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.060192	0.55432	.	.	ENSG00000047578	ENST00000261588	T	0.20332	2.08	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.92169	3.28	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67581	-0.5634	10	0.72032	D	0.01	-27.7206	14.0021	0.64439	1.0:0.0:0.0:0.0	.	1454	O60303	K0556_HUMAN	A	1454	ENSP00000261588:D1454A	ENSP00000261588:D1454A	D	+	2	0	KIAA0556	27693818	1.000000	0.71417	0.988000	0.46212	0.027000	0.11550	9.036000	0.93758	1.786000	0.52430	0.260000	0.18958	GAC		PASS	0.627	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		28	95	28	95	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28913589	28913589	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:28913589C>G	ENST00000357084.3	+	17	2673	c.2406C>G	c.(2404-2406)ctC>ctG	p.L802L	ATP2A1_ENST00000536376.1_Silent_p.L677L|ATP2A1_ENST00000395503.4_Silent_p.L802L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	802	Interacts with phospholamban 2. {ECO:0000250}.				apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.L802L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCGACGGGCTCCCAGCCACAG	0.657																																						uc002dro.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2404-2406)CTC>CTG		ATPase, Ca++ transporting, fast twitch 1 isoform							68.0	76.0	74.0					16																	28913589		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913589C>G		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2406C>G	16.37:g.28913589C>G						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.L802L|ATP2A1_uc002drp.1_Silent_p.L677L	p.L802L	NM_173201	NP_775293	O14983	AT2A1_HUMAN			17	2590	+			802			Interacts with phospholamban 2 (By similarity).|Helical; Name=6; (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.2406C>G	CCDS10643.1																																																																																				PASS	0.657	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		49	141	49	141	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28914425	28914425	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:28914425C>T	ENST00000357084.3	+	20	3086	c.2819C>T	c.(2818-2820)tCc>tTc	p.S940F	ATP2A1_ENST00000536376.1_Missense_Mutation_p.S815F|ATP2A1_ENST00000395503.4_Missense_Mutation_p.S940F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	940					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.S940F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCTGCCTCTCCATGTCCCTG	0.662																																						uc002dro.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2818-2820)TCC>TTC		ATPase, Ca++ transporting, fast twitch 1 isoform							112.0	95.0	101.0					16																	28914425		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914425C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2819C>T	16.37:g.28914425C>T	ENSP00000349595:p.Ser940Phe					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.S940F|ATP2A1_uc002drp.1_Missense_Mutation_p.S815F	p.S940F	NM_173201	NP_775293	O14983	AT2A1_HUMAN			20	3003	+			940			Helical; Name=9; (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2819C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857754	0.91433	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96554	-4.05;-4.05;-2.7	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.99537	1.0962	10	0.87932	D	0	.	17.1944	0.86888	0.0:1.0:0.0:0.0	.	815;940;940	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	F	940;940;815	ENSP00000349595:S940F;ENSP00000378879:S940F;ENSP00000443101:S815F	ENSP00000349595:S940F	S	+	2	0	ATP2A1	28821926	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.627000	0.83176	2.594000	0.87642	0.561000	0.74099	TCC		PASS	0.662	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		44	122	44	122	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31500570	31500570	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:31500570T>G	ENST00000330498.3	+	12	1595	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	526					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.Y526D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CGGCGTGCACTACCTCTACTT	0.642																																						uc002ecf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)TAC>GAC		solute carrier family 5 (sodium/glucose							136.0	83.0	101.0					16																	31500570		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500570T>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1576T>G	16.37:g.31500570T>G	ENSP00000327943:p.Tyr526Asp					SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.Y526D	NM_003041	NP_003032	P31639	SC5A2_HUMAN			12	1595	+			526			Extracellular (Potential).		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1576T>G	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.97|16.97	3.269540|3.269540	0.59540|0.59540	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000419665|ENST00000330498	D|D	0.87966|0.81821	-2.32|-1.54	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90349|0.90349	0.6980|0.6980	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	D|D	0.91900|0.91900	0.5531|0.5531	7|10	0.87932|0.87932	D|D	0|0	.|.	12.3197|12.3197	0.54977|0.54977	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|526	.|P31639	.|SC5A2_HUMAN	R|D	419|526	ENSP00000410601:L419R|ENSP00000327943:Y526D	ENSP00000410601:L419R|ENSP00000327943:Y526D	L|Y	+|+	2|1	0|0	SLC5A2|SLC5A2	31408071|31408071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.119000|0.119000	0.20118|0.20118	7.824000|7.824000	0.86668|0.86668	2.016000|2.016000	0.59253|0.59253	0.459000|0.459000	0.35465|0.35465	CTA|TAC		PASS	0.642	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			4	77	4	77	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47675523	47675523	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:47675523C>G	ENST00000323584.5	+	16	1552	c.1528C>G	c.(1528-1530)Ctg>Gtg	p.L510V	PHKB_ENST00000299167.8_Missense_Mutation_p.L510V|PHKB_ENST00000455779.1_Missense_Mutation_p.L503V|PHKB_ENST00000566044.1_Missense_Mutation_p.L503V	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	510					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.L510V(2)|p.L503V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCAAGTTTTTCTGAACACATA	0.378																																						uc002eev.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1528-1530)CTG>GTG		phosphorylase kinase, beta isoform a							102.0	93.0	96.0					16																	47675523		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47675523C>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1528C>G	16.37:g.47675523C>G	ENSP00000313504:p.Leu510Val					PHKB_uc002eeu.3_Missense_Mutation_p.L503V	p.L510V	NM_000293	NP_000284	Q93100	KPBB_HUMAN			16	1580	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	510					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1528C>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633620	0.47049	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.95307	-3.66;-3.67	5.98	5.03	0.67393	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.976;0.998	D	0.98705	1.0702	10	0.87932	D	0	-17.0606	14.7445	0.69480	0.0:0.9303:0.0:0.0697	.	510;503	Q93100;Q93100-4	KPBB_HUMAN;.	V	503;503;510	ENSP00000414345:L503V;ENSP00000313504:L510V	ENSP00000299167:L503V	L	+	1	2	PHKB	46233024	1.000000	0.71417	0.966000	0.40874	0.313000	0.28021	3.449000	0.52950	1.525000	0.49052	0.650000	0.86243	CTG		PASS	0.378	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			22	41	22	41	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50783821	50783821	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:50783821G>T	ENST00000427738.3	+	2	417	c.212G>T	c.(211-213)gGa>gTa	p.G71V	CYLD_ENST00000568704.2_Missense_Mutation_p.G71V|CYLD_ENST00000311559.9_Missense_Mutation_p.G71V|CYLD_ENST00000540145.1_Missense_Mutation_p.G71V|CYLD_ENST00000569418.1_Missense_Mutation_p.G71V|CYLD_ENST00000566206.1_Missense_Mutation_p.G71V|CYLD_ENST00000398568.2_Missense_Mutation_p.G71V|CYLD_ENST00000564326.1_Missense_Mutation_p.G71V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	71					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G71V(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AATCAGATTGGATTAAAAATT	0.373			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(211-213)GGA>GTA		ubiquitin carboxyl-terminal hydrolase CYLD							108.0	105.0	106.0					16																	50783821		1831	4078	5909	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50783821G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.212G>T	16.37:g.50783821G>T	ENSP00000392025:p.Gly71Val					CYLD_uc002egn.1_Missense_Mutation_p.G71V|CYLD_uc002ego.2_Missense_Mutation_p.G71V|CYLD_uc010cbs.1_Missense_Mutation_p.G71V|CYLD_uc002egq.1_Missense_Mutation_p.G71V|CYLD_uc002egr.1_Missense_Mutation_p.G71V|CYLD_uc002egs.1_Missense_Mutation_p.G71V	p.G71V	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			4	627	+		all_cancers(37;0.0156)	71					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.212G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390575	0.62066	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.87549	0.6205	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.45827	0.79;0.867;0.867;0.79	B;B;B;B	0.40940	0.186;0.344;0.344;0.186	D	0.88229	0.2902	10	0.45353	T	0.12	-27.7397	15.9984	0.80268	0.0:0.1337:0.8663:0.0	.	71;71;71;71	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	V	71	ENSP00000445447:G71V;ENSP00000308928:G71V;ENSP00000392025:G71V;ENSP00000381574:G71V	ENSP00000308928:G71V	G	+	2	0	CYLD	49341322	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.792000	0.55476	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.373	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			81	58	81	58	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53358337	53358337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:53358337A>T	ENST00000398510.3	+	38	8311	c.8224A>T	c.(8224-8226)Aaa>Taa	p.K2742*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.K2727*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.K2726*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.K2726*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2742					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K2743*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GACAGAAGACAAAAAGGGAAG	0.473																																						uc002ehb.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8224-8226)AAA>TAA		chromodomain helicase DNA binding protein 9							69.0	67.0	67.0					16																	53358337		1916	4130	6046	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358337A>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8224A>T	16.37:g.53358337A>T	ENSP00000381522:p.Lys2742*					CHD9_uc002egy.2_Nonsense_Mutation_p.K2726*|CHD9_uc002ehc.2_Nonsense_Mutation_p.K2727*|CHD9_uc002ehf.2_Nonsense_Mutation_p.K1840*|CHD9_uc010cbw.2_Nonsense_Mutation_p.K808*	p.K2742*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8388	+		all_cancers(37;0.0212)	2742					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.8224A>T		.	.	.	.	.	.	.	.	.	.	A	48	14.790025	0.99810	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6189	15.8507	0.78927	1.0:0.0:0.0:0.0	.	.	.	.	X	2727;2726;808	.	ENSP00000381522:K2726X	K	+	1	0	CHD9	51915838	1.000000	0.71417	0.965000	0.40720	0.929000	0.56500	5.871000	0.69628	2.203000	0.70933	0.533000	0.62120	AAA		PASS	0.473	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		24	38	24	38	---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67233628	67233628	+	IGR	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:67233628C>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Missense_Mutation_p.A107E|ELMO3_ENST00000477898.1_5'UTR|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.A107E	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A107E(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGCAGTTTGCGGATGGGCAC	0.682																																						uc002esa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GCG>GAG		engulfment and cell motility 3							48.0	56.0	53.0					16																	67233628		2075	4198	6273	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233628C>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233628C>A						ELMO3_uc002esb.2_Missense_Mutation_p.A107E|ELMO3_uc002esc.2_5'UTR	p.A107E	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	3	363	+		Ovarian(137;0.0563)	54					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.320C>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725183	0.89298	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.16743	2.4;2.32	5.19	5.19	0.71726	.	0.305697	0.29551	U	0.011836	T	0.38983	0.1061	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.68621	0.899;0.959	T	0.18999	-1.0319	10	0.72032	D	0.01	-6.4665	10.8828	0.46948	0.0:0.913:0.0:0.087	.	107;107	F8W9E7;Q96BJ8-3	.;.	E	107	ENSP00000354077:A107E;ENSP00000377566:A107E	ENSP00000354077:A107E	A	+	2	0	ELMO3	65791129	0.957000	0.32711	0.997000	0.53966	0.933000	0.57130	2.132000	0.42083	2.416000	0.81992	0.563000	0.77884	GCG		PASS	0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		16	10	16	10	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67316211	67316211	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:67316211G>A	ENST00000360461.5	+	8	3747	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	PLEKHG4_ENST00000379344.3_Silent_p.L404L|PLEKHG4_ENST00000427155.2_Silent_p.L404L|PLEKHG4_ENST00000450733.1_Silent_p.L323L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	404							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L404L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGACATGGCTGAAGCAAGAGG	0.612																																						uc002eso.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1210-1212)CTG>CTA		pleckstrin homology domain containing, family G							26.0	29.0	28.0					16																	67316211		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316211G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1212G>A	16.37:g.67316211G>A						PLEKHG4_uc002esp.3_Silent_p.L211L|PLEKHG4_uc002esq.3_Silent_p.L404L|PLEKHG4_uc010cef.2_Silent_p.L404L|PLEKHG4_uc002ess.3_Silent_p.L404L|PLEKHG4_uc010ceg.2_Silent_p.L323L	p.L404L	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	8	3747	+			404					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1212G>A	CCDS32466.1																																																																																				PASS	0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		13	23	13	23	---	---	---	---
CHTF8	54921	broad.mit.edu	37	16	69154502	69154502	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:69154502G>A	ENST00000448552.2	-	4	313	c.192C>T	c.(190-192)atC>atT	p.I64I	CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000398235.2_Silent_p.I64I	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	64					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I64I(1)									TCTCCAGGTGGATGATTTTCC	0.537																																						uc002ewn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)ATC>ATT		chromosome transmission fidelity factor 8							119.0	119.0	119.0					16																	69154502		1959	4152	6111	SO:0001819	synonymous_variant	54921				cell cycle|DNA replication	nucleus	DNA binding	g.chr16:69154502G>A		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.192C>T	16.37:g.69154502G>A						CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Silent_p.I45I|CHTF8_uc002ewp.1_Silent_p.I64I	p.I64I	NM_001040146	NP_001035236	P0CG13	CTF8_HUMAN			4	293	-			64					A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Silent	SNP	ENST00000448552.2	37	c.192C>T	CCDS42185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.343|4.343	0.062999|0.062999	0.08388|0.08388	.|.	.|.	ENSG00000168802|ENSG00000168802	ENST00000522497|ENST00000519520;ENST00000520529	.|.	.|.	.|.	5.1|5.1	4.15|4.15	0.48705|0.48705	.|.	.|.	.|.	.|.	.|.	T|T	0.61825|0.61825	0.2378|0.2378	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64041|0.64041	-0.6500|-0.6500	4|5	.|0.87932	.|D	.|0	.|.	6.1936|6.1936	0.20538|0.20538	0.163:0.2655:0.5715:0.0|0.163:0.2655:0.5715:0.0	.|.	.|.	.|.	.|.	S|F	87|5	.|.	.|ENSP00000427718:S5F	P|S	-|-	1|2	0|0	CHTF8|CHTF8	67712003|67712003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.587000|2.587000	0.46128|0.46128	1.284000|1.284000	0.44531|0.44531	0.655000|0.655000	0.94253|0.94253	CCA|TCC		PASS	0.537	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804		18	62	18	62	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70177543	70177543	+	Missense_Mutation	SNP	C	C	G	rs370480421		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:70177543C>G	ENST00000288050.4	+	14	2693	c.1736C>G	c.(1735-1737)gCa>gGa	p.A579G	PDPR_ENST00000398122.3_Missense_Mutation_p.A479G|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.A579G|PDPR_ENST00000567046.1_5'Flank|PDPR_ENST00000542659.1_5'Flank	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	579					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.A579G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCAGCATAGCACGACTGAAC	0.552																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1735-1737)GCA>GGA		pyruvate dehydrogenase phosphatase regulatory		C	GLY/ALA	0,4008		0,0,2004	64.0	69.0	68.0		1736	4.7	1.0	16		68	1,8363		0,1,4181	no	missense	PDPR	NM_017990.3	60	0,1,6185	GG,GC,CC		0.012,0.0,0.0081	possibly-damaging	579/880	70177543	1,12371	2004	4182	6186	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70177543C>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1736C>G	16.37:g.70177543C>G	ENSP00000288050:p.Ala579Gly					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.A479G|PDPR_uc002eyg.1_Missense_Mutation_p.A307G|PDPR_uc002eyh.2_5'Flank|PDPR_uc010vls.1_5'Flank	p.A579G	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	14	2693	+			579					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1736C>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230340	0.79688	0.0	1.2E-4	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.75704	-0.96;-0.96	4.67	4.67	0.58626	Glycine cleavage T-protein, N-terminal (1);	0.123823	0.56097	D	0.000030	D	0.83792	0.5331	M	0.79123	2.44	0.80722	D	1	D;P	0.67145	0.996;0.798	D;P	0.67103	0.949;0.653	D	0.85515	0.1200	10	0.87932	D	0	.	10.5756	0.45225	0.0:0.9103:0.0:0.0897	.	307;579	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	G	579;479;307	ENSP00000288050:A579G;ENSP00000381190:A479G	ENSP00000205055:A307G	A	+	2	0	PDPR	68735044	0.997000	0.39634	0.976000	0.42696	0.989000	0.77384	3.139000	0.50577	2.306000	0.77630	0.462000	0.41574	GCA		PASS	0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		3	37	3	37	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71682897	71682897	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:71682897C>G	ENST00000568954.1	-	19	4246	c.3868G>C	c.(3868-3870)Gaa>Caa	p.E1290Q	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E1223Q|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E1325Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E1290Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1290					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E1290Q(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCTTCACTTCTTCTTCCAGG	0.557																																						uc002fax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3868-3870)GAA>CAA		PH domain and leucine rich repeat protein							101.0	91.0	94.0					16																	71682897		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71682897C>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3868G>C	16.37:g.71682897C>G	ENSP00000457991:p.Glu1290Gln					PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.E1223Q	p.E1290Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			18	3874	-			1290					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3868G>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482612	0.84747	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.59638	0.82;0.25	5.96	5.96	0.96718	.	0.092655	0.64402	D	0.000001	T	0.72795	0.3505	M	0.65498	2.005	0.46437	D	0.999041	D;D	0.59767	0.986;0.966	P;P	0.58721	0.844;0.598	T	0.74147	-0.3759	10	0.87932	D	0	-10.8738	19.4101	0.94667	0.0:1.0:0.0:0.0	.	1223;1290	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Q	1290;1223	ENSP00000348611:E1290Q;ENSP00000377159:E1223Q	ENSP00000348611:E1290Q	E	-	1	0	PHLPP2	70240398	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.260000	0.78391	2.832000	0.97577	0.655000	0.94253	GAA		PASS	0.557	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	100	3	100	---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74339345	74339345	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:74339345T>A	ENST00000219313.4	+	7	829	c.689T>A	c.(688-690)cTg>cAg	p.L230Q	AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000567958.1_Splice_Site_p.C178S|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.L153Q	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	230					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.L230Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATCTACCAGCTGCAGGACGTC	0.527																																						uc002fcq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CTG>CAG		proteasome 26S non-ATPase subunit 7							74.0	62.0	66.0					16																	74339345		2198	4300	6498	SO:0001583	missense	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74339345T>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.689T>A	16.37:g.74339345T>A	ENSP00000219313:p.Leu230Gln					PSMD7_uc010vmr.1_Missense_Mutation_p.L153Q	p.L230Q	NM_002811	NP_002802	P51665	PSD7_HUMAN			7	821	+			230					D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.689T>A	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585551	0.86748	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.60548	0.2;0.18	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	M	0.93550	3.43	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.87070	0.2159	10	0.87932	D	0	-30.1988	15.9377	0.79729	0.0:0.0:0.0:1.0	.	230	P51665	PSD7_HUMAN	Q	230;153	ENSP00000219313:L230Q;ENSP00000443925:L153Q	ENSP00000219313:L230Q	L	+	2	0	PSMD7	72896846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.252000	0.72447	2.159000	0.67721	0.528000	0.53228	CTG		PASS	0.527	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		27	12	27	12	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74949878	74949878	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:74949878G>A	ENST00000262144.6	-	13	1244	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	372								p.P372S(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTTCTAGGGGGATCTTCTTTT	0.463																																						uc002fdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1114-1116)CCC>TCC		WD repeat domain 59							105.0	102.0	103.0					16																	74949878		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74949878G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1114C>T	16.37:g.74949878G>A	ENSP00000262144:p.Pro372Ser					WDR59_uc002fdi.2_Missense_Mutation_p.P372S|WDR59_uc002fdj.2_Missense_Mutation_p.P372S|WDR59_uc002fdg.1_5'UTR	p.P372S	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			13	1216	-			372					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1114C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	8.333	0.826835	0.16749	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70045	-0.45	5.77	3.8	0.43715	.	0.385241	0.29321	N	0.012493	T	0.39708	0.1088	N	0.14661	0.345	0.39509	D	0.968339	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33059	-0.9883	10	0.06891	T	0.86	-15.3458	5.9748	0.19373	0.2977:0.0:0.7023:0.0	.	372;372	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	S	372;351	ENSP00000262144:P372S	ENSP00000262144:P372S	P	-	1	0	WDR59	73507379	0.999000	0.42202	0.965000	0.40720	0.985000	0.73830	3.054000	0.49908	2.752000	0.94435	0.650000	0.86243	CCC		PASS	0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		24	84	24	84	---	---	---	---
MAF	4094	broad.mit.edu	37	16	79632723	79632723	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:79632723G>C	ENST00000393350.1	-	1	1888	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	MAF_ENST00000326043.4_Missense_Mutation_p.N359K|MAF_ENST00000569649.1_Missense_Mutation_p.N359K	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	359	Represses ARE-mediated transcription.				cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N359K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TGCTCGAGCCGTTTTCTCGGA	0.592			T	IGH@	MM																																	uc002ffn.2				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1075-1077)AAC>AAG		v-maf musculoaponeurotic fibrosarcoma oncogene							56.0	58.0	57.0					16																	79632723		2198	4300	6498	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79632723G>C		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.1077C>G	16.37:g.79632723G>C	ENSP00000377019:p.Asn359Lys					MAF_uc002ffm.2_Missense_Mutation_p.N359K	p.N359K	NM_001031804	NP_001026974	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1900	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	359			Represses ARE-mediated transcription.		Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.1077C>G	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061440	0.76187	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97404	-4.37;-4.33	4.38	2.35	0.29111	.	0.100238	0.64402	D	0.000003	D	0.96623	0.8898	L	0.51422	1.61	0.36065	D	0.841759	D;D	0.62365	0.967;0.991	P;P	0.62435	0.714;0.902	D	0.95466	0.8547	10	0.34782	T	0.22	-17.6294	9.2143	0.37337	0.0815:0.1474:0.7711:0.0	.	359;359	O75444;O75444-1	MAF_HUMAN;.	K	359	ENSP00000327048:N359K;ENSP00000377019:N359K	ENSP00000327048:N359K	N	-	3	2	MAF	78190224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.616000	0.54174	0.380000	0.24823	0.549000	0.68633	AAC		PASS	0.592	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			15	21	15	21	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84212912	84212912	+	Missense_Mutation	SNP	G	G	A	rs377368073		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr16:84212912G>A	ENST00000567759.1	-	14	2427	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	TAF1C_ENST00000341690.6_Missense_Mutation_p.R655W|TAF1C_ENST00000566732.1_Missense_Mutation_p.R723W|TAF1C_ENST00000378541.4_Missense_Mutation_p.R749W|TAF1C_ENST00000570117.1_Missense_Mutation_p.R417W|TAF1C_ENST00000541676.1_Missense_Mutation_p.R656W	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	749					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.R749W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTTGGGCCGCCTGGTCTGT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12972	0.0		0.0	False		,,,				2504	0.001					uc002fhn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2245-2247)CGG>TGG		TBP-associated factor 1C isoform 1		G	TRP/ARG,TRP/ARG	0,4374		0,0,2187	14.0	17.0	16.0		2245,1963	4.2	1.0	16		16	1,8567		0,1,4283	no	missense,missense	TAF1C	NM_005679.3,NM_139353.2	101,101	0,1,6470	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	749/870,655/776	84212912	1,12941	2187	4284	6471	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84212912G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2245C>T	16.37:g.84212912G>A	ENSP00000455265:p.Arg749Trp					TAF1C_uc002fhm.2_Missense_Mutation_p.R655W|TAF1C_uc010vnx.1_Missense_Mutation_p.R723W|TAF1C_uc010vny.1_Missense_Mutation_p.R340W|TAF1C_uc010vnz.1_Missense_Mutation_p.R417W|TAF1C_uc002fho.2_Missense_Mutation_p.R272W|TAF1C_uc010voa.1_Missense_Mutation_p.R417W|TAF1C_uc002fhp.1_Intron	p.R749W	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			14	2473	-			749					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2245C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198657	0.58126	0.0	1.17E-4	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02837	4.14;4.14;4.14	5.14	4.19	0.49359	.	0.000000	0.56097	D	0.000032	T	0.12944	0.0314	M	0.72118	2.19	0.33874	D	0.635288	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;P;D	0.91635	0.999;0.999;0.674;0.996	T	0.07597	-1.0764	10	0.87932	D	0	-43.1629	11.8466	0.52387	0.0:0.1768:0.8232:0.0	.	723;272;749;655	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	W	749;656;655;272	ENSP00000367802:R749W;ENSP00000437900:R656W;ENSP00000345305:R655W	ENSP00000345305:R655W	R	-	1	2	TAF1C	82770413	0.015000	0.18098	0.975000	0.42487	0.586000	0.36452	0.029000	0.13666	1.175000	0.42826	-0.218000	0.12543	CGG		PASS	0.687	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		11	11	11	11	---	---	---	---
NXN	64359	broad.mit.edu	37	17	729316	729316	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:729316G>C	ENST00000336868.3	-	2	454	c.363C>G	c.(361-363)ctC>ctG	p.L121L	NXN_ENST00000575801.1_Silent_p.L13L|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	121					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.L121L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCAAAGTTTGAGCTGTATGA	0.468																																						uc002fsa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(361-363)CTC>CTG		nucleoredoxin							139.0	130.0	133.0					17																	729316		2203	4300	6503	SO:0001819	synonymous_variant	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:729316G>C		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.363C>G	17.37:g.729316G>C						NXN_uc002fsb.1_Silent_p.L8L|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Silent_p.L13L	p.L121L	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	2	455	-			121					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	c.363C>G	CCDS10998.1																																																																																				PASS	0.468	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			13	39	13	39	---	---	---	---
SGSM2	9905	broad.mit.edu	37	17	2279103	2279103	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:2279103G>A	ENST00000426855.2	+	17	2458	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Silent_p.E761E|SGSM2_ENST00000268989.3_Silent_p.E806E|RP1-59D14.5_ENST00000573007.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	761	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E806E(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCAGCCAGGAGAAGCCTCAGG	0.677																																						uc002fun.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2281-2283)GAG>GAA		RUN and TBC1 domain containing 1 isoform 2							44.0	54.0	51.0					17																	2279103		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2279103G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2283G>A	17.37:g.2279103G>A						SGSM2_uc002fum.3_Silent_p.E806E|SGSM2_uc010vqw.1_Silent_p.E761E|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	p.E761E	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	17	2458	+			761			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.2283G>A	CCDS45570.1																																																																																				PASS	0.677	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		66	37	66	37	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5418228	5418228	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:5418228G>T	ENST00000572272.1	-	17	4267	c.4268C>A	c.(4267-4269)cCc>cAc	p.P1423H	RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000354411.3_Missense_Mutation_p.P1393H|NLRP1_ENST00000345221.3_Missense_Mutation_p.P1379H|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1379H|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1349H|NLRP1_ENST00000262467.5_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1423	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.P1423H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATCTGGCTGGGCCTCGTGTT	0.572																																						uc002gci.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4267-4269)CCC>CAC		NLR family, pyrin domain containing 1 isoform 1							72.0	76.0	75.0					17																	5418228		2109	4232	6341	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418228G>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4268C>A	17.37:g.5418228G>T	ENSP00000460475:p.Pro1423His					NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Missense_Mutation_p.P1379H|NLRP1_uc002gcj.2_Missense_Mutation_p.P1393H|NLRP1_uc002gcl.2_Missense_Mutation_p.P1349H|NLRP1_uc002gch.3_Missense_Mutation_p.P1379H	p.P1423H	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			17	4823	-		Colorectal(1115;3.48e-05)	1423			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4268C>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858604	0.51376	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.20881	2.04;2.04	5.07	-3.18	0.05186	DEATH-like (2);Caspase Recruitment (2);	0.679220	0.12232	N	0.487386	T	0.37128	0.0992	M	0.74258	2.255	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.991;0.99;0.991	T	0.17048	-1.0382	10	0.62326	D	0.03	.	5.5261	0.16959	0.2013:0.0:0.2887:0.5099	.	1349;1393;1423;1379	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	H	1423;1393;1379	ENSP00000346390:P1393H;ENSP00000324366:P1379H	ENSP00000269280:P1423H	P	-	2	0	NLRP1	5358952	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.114000	0.15520	-0.416000	0.07473	0.650000	0.86243	CCC		PASS	0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		32	24	32	24	---	---	---	---
ACADVL	37	broad.mit.edu	37	17	7124370	7124370	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:7124370A>T	ENST00000356839.5	+	6	649	c.470A>T	c.(469-471)aAc>aTc	p.N157I	DLG4_ENST00000399510.2_5'Flank|ACADVL_ENST00000543245.2_Missense_Mutation_p.N180I|ACADVL_ENST00000581562.1_3'UTR|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.N135I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	157	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.N157I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGCCTTTGCAACACCCAGGTG	0.597																																						uc002gev.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(469-471)AAC>ATC		acyl-Coenzyme A dehydrogenase, very long chain							66.0	74.0	71.0					17																	7124370		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7124370A>T	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.470A>T	17.37:g.7124370A>T	ENSP00000349297:p.Asn157Ile					DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.N167I|ACADVL_uc010vtq.1_Missense_Mutation_p.N203I|ACADVL_uc002gew.2_Missense_Mutation_p.N135I|ACADVL_uc002gex.2_Missense_Mutation_p.N81I	p.N157I	NM_000018	NP_000009	P49748	ACADV_HUMAN			6	621	+			157			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.470A>T	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	A	33	5.238625	0.95240	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.99688	-6.41;-6.41	5.75	5.75	0.90469	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.97849	1.0273	10	0.59425	D	0.04	.	12.4436	0.55639	1.0:0.0:0.0:0.0	.	203;180;135;157	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	I	180;203;135;157;203	ENSP00000438689:N180I;ENSP00000344152:N135I	ENSP00000325395:N157I	N	+	2	0	ACADVL	7065094	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.962000	0.87912	2.191000	0.70037	0.533000	0.62120	AAC		PASS	0.597	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		44	31	44	31	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(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	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	45	47	45	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8166571	8166571	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:8166571G>C	ENST00000314666.6	+	13	1688	c.1555G>C	c.(1555-1557)Gct>Cct	p.A519P	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.A95P	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	519					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.A519P(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGATCAGGGCGCTGGTGGCAA	0.562																																						uc002gkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1555-1557)GCT>CCT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						94.0	97.0	96.0					17																	8166571		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8166571G>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1555G>C	17.37:g.8166571G>C	ENSP00000313490:p.Ala519Pro					PFAS_uc010vuv.1_Missense_Mutation_p.A95P|PFAS_uc010cnw.1_Missense_Mutation_p.A73P|PFAS_uc002gks.2_5'Flank	p.A519P	NM_012393	NP_036525	O15067	PUR4_HUMAN			13	1696	+			519					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1555G>C	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935697	0.52972	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.18810	2.19;2.19	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78142	-0.2319	10	0.87932	D	0	-13.9781	17.7991	0.88581	0.0:0.0:1.0:0.0	.	95;519	F5GWT9;O15067	.;PUR4_HUMAN	P	95;519	ENSP00000441706:A95P;ENSP00000313490:A519P	ENSP00000313490:A519P	A	+	1	0	PFAS	8107296	1.000000	0.71417	0.835000	0.33067	0.952000	0.60782	8.624000	0.90961	2.808000	0.96608	0.655000	0.94253	GCT		PASS	0.562	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			56	58	56	58	---	---	---	---
PIK3R6	146850	broad.mit.edu	37	17	8753098	8753098	+	Splice_Site	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:8753098C>T	ENST00000434064.2	-	1	13		c.e1+1		PIK3R6_ENST00000311434.9_Splice_Site			Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.?(1)									ACCACACTGACCTGAGCTCTC	0.597																																						uc002glq.1																			1	Unknown(1)		lung(1)		0						c.e2+1		phosphoinositide-3-kinase, regulatory subunit 6							66.0	69.0	68.0					17																	8753098		1949	4136	6085	SO:0001630	splice_region_variant	146850				platelet activation	cytosol		g.chr17:8753098C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000434064.2:c.2251+1G>A	17.37:g.8753098C>T						PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site	p.D5_splice	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			2	253	-								Q658R3	Splice_Site	SNP	ENST00000434064.2	37	c.13_splice																																																																																					PASS	0.597	PIK3R6-002	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000400327.2	NM_001010855	Intron	12	7	12	7	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10355635	10355635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:10355635C>A	ENST00000255381.2	-	27	3471	c.3361G>T	c.(3361-3363)Gag>Tag	p.E1121*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1121					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E1121*(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTCCAGCTCCTCAATGCGG	0.522																																						uc002gmn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3361-3363)GAG>TAG		myosin, heavy polypeptide 4, skeletal muscle							70.0	74.0	73.0					17																	10355635		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355635C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3361G>T	17.37:g.10355635C>A	ENSP00000255381:p.Glu1121*					uc002gml.1_Intron	p.E1121*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			27	3472	-			1121			Potential.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.3361G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	40	8.331456	0.98764	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.6	5.6	0.85130	.	0.000000	0.37761	U	0.001958	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9589	0.97233	0.0:1.0:0.0:0.0	.	.	.	.	X	1121	.	ENSP00000255381:E1121X	E	-	1	0	MYH4	10296360	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	7.648000	0.83479	2.791000	0.96007	0.655000	0.94253	GAG		PASS	0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		62	35	62	35	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10411242	10411242	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:10411242C>A	ENST00000226207.5	-	17	2023	c.1929G>T	c.(1927-1929)aaG>aaT	p.K643N	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	643	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K643N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGAACCCTTCTTCTTACCAC	0.383																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1927-1929)AAG>AAT		myosin, heavy chain 1, skeletal muscle, adult							67.0	75.0	72.0					17																	10411242		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411242C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1929G>T	17.37:g.10411242C>A	ENSP00000226207:p.Lys643Asn					uc002gml.1_Intron	p.K643N	NM_005963	NP_005954	P12882	MYH1_HUMAN			17	2023	-			643			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1929G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354988	0.82243	.	.	ENSG00000109061	ENST00000226207	D	0.87729	-2.29	5.56	4.59	0.56863	Myosin head, motor domain (2);	0.000000	0.45361	U	0.000378	D	0.93667	0.7977	M	0.88704	2.975	0.53688	D	0.999973	P	0.49253	0.921	P	0.61397	0.888	D	0.94772	0.7946	10	0.87932	D	0	.	14.9332	0.70933	0.0:0.9309:0.0:0.0691	.	643	P12882	MYH1_HUMAN	N	643	ENSP00000226207:K643N	ENSP00000226207:K643N	K	-	3	2	MYH1	10351967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.027000	0.49697	1.494000	0.48533	0.650000	0.86243	AAG		PASS	0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		50	35	50	35	---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17046940	17046940	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:17046940G>C	ENST00000341712.4	+	9	1106	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	MPRIP_ENST00000395804.3_Missense_Mutation_p.R369T|MPRIP_ENST00000395811.5_Missense_Mutation_p.R369T|MPRIP_ENST00000444976.1_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	369	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.R369T(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCACACCGAAGAGCCAAGTCA	0.667																																						uc002gqu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)AGA>ACA		myosin phosphatase-Rho interacting protein							44.0	43.0	43.0					17																	17046940		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17046940G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1106G>C	17.37:g.17046940G>C	ENSP00000342379:p.Arg369Thr					MPRIP_uc002gqv.1_Missense_Mutation_p.R369T|MPRIP_uc002gqw.1_Intron	p.R369T	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			9	1162	+			369			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.1106G>C	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242339	0.95272	.	.	ENSG00000133030	ENST00000395811;ENST00000395804;ENST00000341712	T;T;T	0.20463	2.08;2.07;2.07	5.73	5.73	0.89815	.	.	.	.	.	T	0.38268	0.1034	L	0.34521	1.04	0.43471	D	0.995689	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.02603	-1.1135	9	0.40728	T	0.16	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	369;369	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	T	369	ENSP00000379156:R369T;ENSP00000379149:R369T;ENSP00000342379:R369T	ENSP00000342379:R369T	R	+	2	0	MPRIP	16987665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	AGA		PASS	0.667	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		10	45	10	45	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18647983	18647983	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:18647983G>C	ENST00000395665.4	+	1	647	c.426G>C	c.(424-426)caG>caC	p.Q142H	FBXW10_ENST00000308799.4_Missense_Mutation_p.Q142H|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q142H|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q142H			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	142								p.Q142H(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TACTGCTGCAGATGTGCAACC	0.453																																						uc002guk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(424-426)CAG>CAC		F-box and WD-40 domain protein 10							79.0	79.0	79.0					17																	18647983		2203	4297	6500	SO:0001583	missense	10517							g.chr17:18647983G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.426G>C	17.37:g.18647983G>C	ENSP00000379025:p.Gln142His					FBXW10_uc002guj.2_Missense_Mutation_p.Q142H|FBXW10_uc002gul.2_Missense_Mutation_p.Q142H|FBXW10_uc010cqh.1_Missense_Mutation_p.Q142H	p.Q142H	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			1	658	+			142					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.426G>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	g	5.890	0.348293	0.11126	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	3.31	-1.57	0.08506	.	0.071920	0.56097	U	0.000026	T	0.44117	0.1278	M	0.63843	1.955	0.29932	N	0.821856	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.80764	0.991;0.994;0.979;0.979	T	0.41215	-0.9521	10	0.87932	D	0	.	7.7002	0.28619	0.567:0.0:0.433:0.0	.	142;142;142;142	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	H	142	ENSP00000379026:Q142H;ENSP00000310382:Q142H;ENSP00000306937:Q142H;ENSP00000379025:Q142H	ENSP00000306937:Q142H	Q	+	3	2	FBXW10	18588708	1.000000	0.71417	0.990000	0.47175	0.728000	0.41692	0.495000	0.22483	-0.165000	0.10908	0.405000	0.27470	CAG		PASS	0.453	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		57	87	57	87	---	---	---	---
SARM1	23098	broad.mit.edu	37	17	26708607	26708607	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:26708607G>A	ENST00000457710.3	+	2	1225	c.754G>A	c.(754-756)Gag>Aag	p.E252K	TMEM199_ENST00000509083.1_3'UTR|SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	286					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)		p.E284K(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGTGGAGCGCGAGGTGGAGCG	0.682																																						uc010crl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GAG>AAG		sterile alpha and TIR motif containing 1							13.0	14.0	14.0					17																	26708607		2196	4286	6482	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26708607G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.754G>A	17.37:g.26708607G>A	ENSP00000406738:p.Glu252Lys					SARM1_uc010wah.1_3'UTR|SARM1_uc010waj.1_RNA	p.E286K	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	923	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		286					O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.856G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.141396	0.94560	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.48738	0.588	T	0.67197	-0.5731	8	0.49607	T	0.09	-11.3809	19.4746	0.94982	0.0:0.0:1.0:0.0	.	286	Q6SZW1	SARM1_HUMAN	K	284;252	.	ENSP00000003834:E252K	E	+	1	0	SARM1	23732734	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.647000	0.74354	2.611000	0.88343	0.655000	0.94253	GAG		PASS	0.682	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		4	4	4	4	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27778620	27778620	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:27778620C>G	ENST00000261716.3	+	2	573	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TAOK1_ENST00000536202.1_Silent_p.L18L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	18					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.L18L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTGCAGAGCTCTTCTTCAAAG	0.443																																						uc002hdz.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(52-54)CTC>CTG		TAO kinase 1							93.0	92.0	92.0					17																	27778620		2203	4300	6503	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27778620C>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.54C>G	17.37:g.27778620C>G						TAOK1_uc010wbe.1_Silent_p.L18L|TAOK1_uc010wbf.1_Silent_p.L18L	p.L18L	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		2	248	+			18					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.54C>G	CCDS32601.1																																																																																				PASS	0.443	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		36	90	36	90	---	---	---	---
EVI2A	2123	broad.mit.edu	37	17	29645355	29645355	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:29645355C>T	ENST00000462804.2	-	2	1076	c.677G>A	c.(676-678)gGa>gAa	p.G226E	NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.G249E|CTD-2370N5.3_ENST00000578584.1_Silent_p.R165R|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.G226E	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	226					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)|p.G249E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTTCAGTTCCTTCTTCATC	0.378																																						uc002hgm.2																			12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)		soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(1)	ovary(1)|breast(1)	2						c.(676-678)GGA>GAA		ecotropic viral integration site 2A isoform 2							91.0	85.0	87.0					17																	29645355		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645355C>T	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.677G>A	17.37:g.29645355C>T	ENSP00000420557:p.Gly226Glu					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.G249E	p.G226E	NM_014210	NP_055025	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	2	892	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	226			Cytoplasmic (Potential).		B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.677G>A	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353407	0.61293	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.84	3.78	0.43462	.	0.562139	0.17821	N	0.160861	T	0.57213	0.2038	L	0.51422	1.61	0.80722	D	1	P;P	0.49307	0.922;0.904	P;P	0.46049	0.502;0.463	T	0.61802	-0.6988	9	0.54805	T	0.06	.	14.1304	0.65250	0.0:0.4721:0.5279:0.0	.	226;249	P22794;P22794-2	EVI2A_HUMAN;.	E	226;222;226;249	.	ENSP00000247270:G249E	G	-	2	0	EVI2A	26669481	0.670000	0.27512	1.000000	0.80357	0.990000	0.78478	1.017000	0.29989	1.446000	0.47643	0.591000	0.81541	GGA		PASS	0.378	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		18	155	18	155	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32956200	32956200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:32956200C>T	ENST00000321639.5	+	5	1373	c.1045C>T	c.(1045-1047)Caa>Taa	p.Q349*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	349						integral component of membrane (GO:0016021)		p.Q349*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGATGTGCAAGCCATCCT	0.592																																						uc002hif.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1045-1047)CAA>TAA		transmembrane protein 132E precursor							56.0	45.0	49.0					17																	32956200		2203	4300	6503	SO:0001587	stop_gained	124842					integral to membrane		g.chr17:32956200C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1045C>T	17.37:g.32956200C>T	ENSP00000316532:p.Gln349*						p.Q349*	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1373	+			349			Extracellular (Potential).		Q8WUF4|Q8WVA5	Nonsense_Mutation	SNP	ENST00000321639.5	37	c.1045C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	38	6.878937	0.97904	.	.	ENSG00000181291	ENST00000321639	.	.	.	3.77	3.77	0.43336	.	0.191207	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.9474	12.7154	0.57111	0.1653:0.8347:0.0:0.0	.	.	.	.	X	349	.	ENSP00000316532:Q349X	Q	+	1	0	TMEM132E	29980313	1.000000	0.71417	0.989000	0.46669	0.651000	0.38670	3.636000	0.54317	2.410000	0.81850	0.436000	0.28706	CAA		PASS	0.592	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		12	67	12	67	---	---	---	---
PSMB3	5691	broad.mit.edu	37	17	36918668	36918668	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:36918668C>T	ENST00000225426.4	+	5	570	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	160					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.P160L(1)		endometrium(2)|large_intestine(1)|lung(1)	4						TGGCAGGATCCGGATCACCTG	0.512																																						uc002hqr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CCG>CTG		proteasome beta 3 subunit							151.0	138.0	142.0					17																	36918668		2203	4300	6503	SO:0001583	missense	5691				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr17:36918668C>T	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.479C>T	17.37:g.36918668C>T	ENSP00000225426:p.Pro160Leu						p.P160L	NM_002795	NP_002786	P49720	PSB3_HUMAN			5	557	+			160					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.479C>T	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766940	0.90020	.	.	ENSG00000108294	ENST00000225426	T	0.18657	2.2	5.45	4.47	0.54385	.	0.053759	0.85682	D	0.000000	T	0.32102	0.0818	M	0.88181	2.935	0.80722	D	1	B	0.32918	0.39	B	0.27887	0.084	T	0.35525	-0.9785	10	0.66056	D	0.02	.	15.142	0.72618	0.0:0.8583:0.1417:0.0	.	160	P49720	PSB3_HUMAN	L	160	ENSP00000225426:P160L	ENSP00000225426:P160L	P	+	2	0	PSMB3	34172194	1.000000	0.71417	0.705000	0.30386	0.896000	0.52359	6.016000	0.70798	1.290000	0.44636	0.563000	0.77884	CCG		PASS	0.512	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		58	119	58	119	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38974732	38974732	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:38974732T>C	ENST00000269576.5	-	8	1760	c.1751A>G	c.(1750-1752)tAc>tGc	p.Y584C	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	584	Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)	p.Y584C(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GTTTTGTTAGTATCTGTGTGA	0.333																																						uc002hvi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1750-1752)TAC>TGC		keratin 10							148.0	144.0	146.0					17																	38974732		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38974732T>C	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1751A>G	17.37:g.38974732T>C	ENSP00000269576:p.Tyr584Cys					KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_5'Flank	p.Y584C	NM_000421	NP_000412	P13645	K1C10_HUMAN			8	1777	-		Breast(137;0.000301)	584			Tail.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1751A>G	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476598	0.26511	.	.	ENSG00000186395	ENST00000269576	D	0.82255	-1.59	5.84	4.73	0.59995	.	1.058890	0.07619	N	0.926749	T	0.71584	0.3357	N	0.08118	0	0.32983	D	0.523886	D	0.63880	0.993	P	0.46975	0.533	T	0.70992	-0.4721	10	0.87932	D	0	.	5.2517	0.15524	0.2993:0.0:0.1338:0.567	.	584	P13645	K1C10_HUMAN	C	584	ENSP00000269576:Y584C	ENSP00000269576:Y584C	Y	-	2	0	KRT10	36228258	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.423000	0.34837	2.227000	0.72691	0.533000	0.62120	TAC		PASS	0.333	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		38	30	38	30	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39020084	39020084	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:39020084G>C	ENST00000251643.4	-	4	863	c.840C>G	c.(838-840)ggC>ggG	p.G280G	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	280	Linker 12.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.G280G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CGCTGACCTCGCCTGGGCCGC	0.602																																						uc002hvk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(838-840)GGC>GGG		keratin 12							24.0	26.0	25.0					17																	39020084		2203	4300	6503	SO:0001819	synonymous_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39020084G>C		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.840C>G	17.37:g.39020084G>C							p.G280G	NM_000223	NP_000214	Q99456	K1C12_HUMAN			4	864	-		Breast(137;0.000301)	280			Rod.|Linker 12.		B2R9E0	Silent	SNP	ENST00000251643.4	37	c.840C>G	CCDS11378.1																																																																																				PASS	0.602	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		45	30	45	30	---	---	---	---
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A	rs201060748		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		19351	0.0		0.001	False		,,,				2504	0.0					uc002hwi.2																			4	Substitution - Missense(4)		lung(3)|upper_aerodigestive_tract(1)		0						c.(157-159)CGC>CAC		keratin associated protein 9-4							60.0	49.0	53.0					17																	39406130		2203	4299	6502	SO:0001583	missense	85280					keratin filament		g.chr17:39406130G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.158G>A	17.37:g.39406130G>A	ENSP00000334922:p.Arg53His					KRTAP9-9_uc010wfq.1_Intron	p.R53H	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	192	+		Breast(137;0.000496)	53			6.|15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.158G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350422	0.05173	.	.	ENSG00000241595	ENST00000334109	T	0.01099	5.34	2.57	-5.14	0.02875	.	.	.	.	.	T	0.01254	0.0041	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39099	-0.9630	9	0.40728	T	0.16	.	2.8899	0.05673	0.2815:0.2222:0.4039:0.0924	.	53	Q9BYQ2	KRA94_HUMAN	H	53	ENSP00000334922:R53H	ENSP00000334922:R53H	R	+	2	0	KRTAP9-4	36659656	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.235000	0.01202	-3.785000	0.00107	-2.699000	0.00136	CGC		PASS	0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			6	132	6	132	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39661684	39661684	+	Missense_Mutation	SNP	C	C	A	rs144144601		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:39661684C>A	ENST00000246635.3	-	1	165	c.119G>T	c.(118-120)gGa>gTa	p.G40V	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.G40V|KRT13_ENST00000336861.3_Missense_Mutation_p.G40V	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	40	Gly-rich.|Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G40E(1)|p.G40V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCCAGCTGATCCCCCGGACAC	0.617																																						uc002hwu.1																			2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(118-120)GGA>GTA		keratin 13 isoform a							111.0	117.0	115.0					17																	39661684		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661684C>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.119G>T	17.37:g.39661684C>A	ENSP00000246635:p.Gly40Val					KRT13_uc002hwv.1_Missense_Mutation_p.G40V|KRT13_uc002hww.2_Intron|KRT13_uc010wfr.1_Intron|KRT13_uc010cxo.2_Missense_Mutation_p.G40V|KRT13_uc002hwx.1_Missense_Mutation_p.G40V	p.G40V	NM_153490	NP_705694	P13646	K1C13_HUMAN			1	182	-		Breast(137;0.000286)	40			Gly-rich.|Head.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.119G>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335278	0.11013	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.82803	-1.65;-1.65	4.82	3.84	0.44239	.	0.139892	0.32093	N	0.006592	D	0.83344	0.5234	M	0.61703	1.905	0.58432	D	0.999997	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.50405	0.64;0.64;0.437	T	0.80276	-0.1450	10	0.20046	T	0.44	.	12.6208	0.56601	0.1657:0.8343:0.0:0.0	.	40;40;40	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	V	40	ENSP00000246635:G40V;ENSP00000336604:G40V	ENSP00000157775:G40V	G	-	2	0	KRT13	36915210	0.001000	0.12720	0.964000	0.40570	0.309000	0.27889	0.961000	0.29267	1.248000	0.43934	0.655000	0.94253	GGA		PASS	0.617	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		43	53	43	53	---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41895442	41895442	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:41895442C>T	ENST00000398389.4	-	12	1083	c.918G>A	c.(916-918)ccG>ccA	p.P306P	MPP3_ENST00000398393.1_Silent_p.P331P	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	306					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.P306P(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTGGGGGCTCGGCAGGGTGC	0.652																																						uc002iei.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(916-918)CCG>CCA		palmitoylated membrane protein 3							9.0	12.0	11.0					17																	41895442		1831	4079	5910	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41895442C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.918G>A	17.37:g.41895442C>T						MPP3_uc002ieh.2_Silent_p.P331P|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.P306P|MPP3_uc010wik.1_Silent_p.P331P	p.P306P	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	12	1084	-		Breast(137;0.00394)	306					B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.918G>A	CCDS42344.1																																																																																				PASS	0.652	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		5	17	5	17	---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45730120	45730120	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:45730120A>G	ENST00000290158.4	+	3	567	c.160A>G	c.(160-162)Aga>Gga	p.R54G	KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_5'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	54	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.R54G(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TCAGGTTGCCAGAGTTGCAGC	0.413																																						uc002ilt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(160-162)AGA>GGA		karyopherin beta 1							87.0	83.0	84.0					17																	45730120		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45730120A>G	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.160A>G	17.37:g.45730120A>G	ENSP00000290158:p.Arg54Gly					KPNB1_uc010wkw.1_5'UTR	p.R54G	NM_002265	NP_002256	Q14974	IMB1_HUMAN			3	496	+			54			Importin N-terminal.		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.160A>G	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068790	0.76301	.	.	ENSG00000108424	ENST00000290158	D	0.82255	-1.59	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	H	0.95328	3.655	0.49389	D	0.999786	D	0.89917	1.0	D	0.97110	1.0	D	0.95899	0.8913	9	0.87932	D	0	-24.5962	11.7329	0.51748	0.842:0.158:0.0:0.0	.	54	Q14974	IMB1_HUMAN	G	54	ENSP00000290158:R54G	ENSP00000290158:R54G	R	+	1	2	KPNB1	43085119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.494000	0.53273	1.904000	0.55121	0.379000	0.24179	AGA		PASS	0.413	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		23	87	23	87	---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691796	46691796	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:46691796G>T	ENST00000239144.4	-	1	505	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	HOXB8_ENST00000576562.1_Missense_Mutation_p.L91M|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	91					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L91M(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						TGGCGTTGCAGCGGGTCGTAG	0.692																																						uc002inw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)CTG>ATG		homeobox B8							49.0	49.0	49.0					17																	46691796		2203	4298	6501	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691796G>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.271C>A	17.37:g.46691796G>T	ENSP00000239144:p.Leu91Met						p.L91M	NM_024016	NP_076921	P17481	HXB8_HUMAN			1	506	-			91					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.271C>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	13.42	2.232751	0.39498	.	.	ENSG00000120068	ENST00000239144	T	0.43688	0.94	2.81	2.81	0.32909	.	0.000000	0.45606	U	0.000343	T	0.58764	0.2145	M	0.81239	2.535	0.42382	D	0.992493	D	0.71674	0.998	D	0.75484	0.986	T	0.58901	-0.7554	10	0.39692	T	0.17	.	6.2231	0.20693	0.3164:0.0:0.6836:0.0	.	91	P17481	HXB8_HUMAN	M	91	ENSP00000239144:L91M	ENSP00000239144:L91M	L	-	1	2	HOXB8	44046795	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.399000	0.44495	1.598000	0.50083	0.290000	0.19541	CTG		PASS	0.692	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			39	61	39	61	---	---	---	---
ZNF652	22834	broad.mit.edu	37	17	47394301	47394301	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:47394301G>T	ENST00000362063.2	-	2	1105	c.787C>A	c.(787-789)Cac>Aac	p.H263N	ZNF652_ENST00000430262.2_Missense_Mutation_p.H263N	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	263					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.H263N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ACGTTCATGTGCTTCTCCAGG	0.483																																						uc002iov.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)CAC>AAC		zinc finger protein 652							181.0	153.0	163.0					17																	47394301		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394301G>T	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.787C>A	17.37:g.47394301G>T	ENSP00000354686:p.His263Asn					ZNF652_uc002iow.2_Missense_Mutation_p.H263N|ZNF652_uc002iou.3_Intron	p.H263N	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1251	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		263			C2H2-type 1.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.787C>A	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035755	0.54896	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.99974	-10.2;-10.2	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	H	0.95043	3.615	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97985	1.0351	10	0.87932	D	0	-14.7966	19.1921	0.93671	0.0:0.0:1.0:0.0	.	263	Q9Y2D9	ZN652_HUMAN	N	263	ENSP00000354686:H263N;ENSP00000416305:H263N	ENSP00000354686:H263N	H	-	1	0	ZNF652	44749300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.639000	0.89480	0.655000	0.94253	CAC		PASS	0.483	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		4	130	4	130	---	---	---	---
PDK2	5164	broad.mit.edu	37	17	48172882	48172882	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:48172882C>A	ENST00000503176.1	+	1	244	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	28					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P28Q(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						AAGTTCTCCCCGTCCCCGCTG	0.701									Autosomal Dominant Polycystic Kidney Disease																													uc002iqc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(82-84)CCG>CAG		pyruvate dehydrogenase kinase 2 precursor							32.0	33.0	33.0					17																	48172882		2203	4300	6503	SO:0001583	missense	5164	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48172882C>A	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.83C>A	17.37:g.48172882C>A	ENSP00000420927:p.Pro28Gln					PDK2_uc002iqb.2_Intron	p.P28Q	NM_002611	NP_002602	Q15119	PDK2_HUMAN			1	187	+			28					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.83C>A	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084958	0.94100	.	.	ENSG00000005882	ENST00000503176	T	0.30981	1.51	4.97	4.97	0.65823	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.51482	-0.8700	10	0.51188	T	0.08	-26.1444	17.3689	0.87371	0.0:1.0:0.0:0.0	.	28	Q15119	PDK2_HUMAN	Q	28	ENSP00000420927:P28Q	ENSP00000420927:P28Q	P	+	2	0	PDK2	45527881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.390000	0.79816	2.457000	0.83068	0.491000	0.48974	CCG		PASS	0.701	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		8	16	8	16	---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48594754	48594754	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:48594754G>T	ENST00000323776.5	+	3	596	c.434G>T	c.(433-435)tGc>tTc	p.C145F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.C108F	NM_032133.4	NP_115509.4			MYCBP associated protein									p.C145F(1)|p.C108F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGAAGGTCTGCCACCTTGTA	0.493																																						uc010wmr.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(433-435)TGC>TTC		Myc-binding protein-associated protein							139.0	136.0	137.0					17																	48594754		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48594754G>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.434G>T	17.37:g.48594754G>T	ENSP00000323184:p.Cys145Phe					MYCBPAP_uc002iqx.2_Missense_Mutation_p.C145F|MYCBPAP_uc002iqz.2_RNA	p.C145F	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		3	596	+	Breast(11;1.23e-18)		108						Missense_Mutation	SNP	ENST00000323776.5	37	c.434G>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	1.440	-0.567830	0.03910	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.23147	1.92;1.94	5.45	0.0453	0.14229	.	0.753209	0.12792	N	0.438780	T	0.18257	0.0438	M	0.62723	1.935	0.09310	N	1	B;B	0.30824	0.296;0.296	B;B	0.27380	0.079;0.079	T	0.29458	-1.0011	10	0.10111	T	0.7	-0.3408	4.1789	0.10365	0.3343:0.325:0.3408:0.0	.	108;145	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	F	145;145;108	ENSP00000323184:C145F;ENSP00000397209:C108F	ENSP00000323184:C145F	C	+	2	0	MYCBPAP	45949753	0.015000	0.18098	0.932000	0.37286	0.603000	0.37013	1.565000	0.36386	0.100000	0.17581	0.563000	0.77884	TGC		PASS	0.493	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		39	125	39	125	---	---	---	---
HLF	3131	broad.mit.edu	37	17	53345449	53345449	+	Splice_Site	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:53345449T>A	ENST00000226067.5	+	2	924		c.e2+2		HLF_ENST00000430986.2_Splice_Site|HLF_ENST00000573945.1_Splice_Site|HLF_ENST00000575345.1_Splice_Site	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor						multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		large_intestine(1)|ovary(2)	3						TCAGACCAGGTAAGTGCCCTG	0.557			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		1	Unknown(1)		lung(1)	ovary(2)	2						c.e2+2		hepatic leukemia factor							39.0	40.0	40.0					17																	53345449		2203	4300	6503	SO:0001630	splice_region_variant	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53345449T>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.451+2T>A	17.37:g.53345449T>A						HLF_uc010dce.1_Splice_Site_p.G66_splice|HLF_uc002iuh.2_Splice_Site_p.G66_splice|HLF_uc010wni.1_Splice_Site_p.Q99_splice	p.G151_splice	NM_002126	NP_002117	Q16534	HLF_HUMAN			2	976	+								A8K1X8|Q6FHS9	Splice_Site	SNP	ENST00000226067.5	37	c.451_splice	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630416	0.67015	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5674	0.76303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLF	50700448	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.698000	0.84413	2.261000	0.74972	0.533000	0.62120	.		PASS	0.557	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126	Intron	19	86	19	86	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565108	56565108	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:56565108C>G	ENST00000323777.3	-	1	637	c.528G>C	c.(526-528)gcG>gcC	p.A176A		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	176					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A176A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gccggggccccgcgggcggcg	0.776																																						uc002iwi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(526-528)GCG>GCC		heat shock transcription factor family member 5							2.0	3.0	2.0					17																	56565108		974	2239	3213	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565108C>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.528G>C	17.37:g.56565108C>G							p.A176A	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			1	652	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		176			By similarity.		Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.528G>C	CCDS32690.1																																																																																				PASS	0.776	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		4	9	4	9	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56581118	56581118	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:56581118G>T	ENST00000323456.5	-	15	1922	c.1798C>A	c.(1798-1800)Cgc>Agc	p.R600S	MTMR4_ENST00000579925.1_Missense_Mutation_p.R543S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	600					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.R600S(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGAGAGCGGCCAGAGAAC	0.483																																						uc002iwj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1798-1800)CGC>AGC		myotubularin related protein 4							95.0	98.0	97.0					17																	56581118		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581118G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1798C>A	17.37:g.56581118G>T	ENSP00000325285:p.Arg600Ser						p.R600S	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			15	1908	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		600					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1798C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	7.027	0.559805	0.13436	.	.	ENSG00000108389	ENST00000323456	D	0.92911	-3.13	6.07	6.07	0.98685	.	0.540056	0.19947	N	0.102518	D	0.86414	0.5927	L	0.48362	1.52	0.46631	D	0.999137	B	0.33583	0.418	B	0.27796	0.083	T	0.81360	-0.0968	10	0.13853	T	0.58	.	10.5381	0.45016	0.0:0.1332:0.7113:0.1555	.	600	Q9NYA4	MTMR4_HUMAN	S	600	ENSP00000325285:R600S	ENSP00000325285:R600S	R	-	1	0	MTMR4	53936117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.479000	0.66813	2.884000	0.98904	0.655000	0.94253	CGC		PASS	0.483	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		40	143	40	143	---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57937725	57937725	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:57937725G>A	ENST00000592426.1	-	8	1320	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TUBD1_ENST00000376094.4_Silent_p.F338F|TUBD1_ENST00000539018.1_Silent_p.F224F|TUBD1_ENST00000394239.3_Silent_p.F383F|TUBD1_ENST00000346141.6_Silent_p.F186F|TUBD1_ENST00000325752.3_Silent_p.F440F|TUBD1_ENST00000340993.6_Silent_p.F385F			Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F440F(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTAATGACGTGAAACTGTCTA	0.318																																						uc002ixw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1318-1320)TTC>TTT		delta-tubulin							115.0	116.0	116.0					17																	57937725		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57937725G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1320C>T	17.37:g.57937725G>A						TUBD1_uc010ddf.1_Silent_p.F338F|TUBD1_uc010ddg.1_Silent_p.F405F|TUBD1_uc010ddh.1_Silent_p.F266F|TUBD1_uc010wok.1_Silent_p.F383F|TUBD1_uc002ixx.1_Silent_p.F385F|TUBD1_uc010wol.1_Silent_p.F224F|TUBD1_uc010ddi.1_Silent_p.F186F	p.F440F	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		9	1598	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		440					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.1320C>T	CCDS11620.1																																																																																				PASS	0.318	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		11	87	11	87	---	---	---	---
EFCAB3	146779	broad.mit.edu	37	17	60464772	60464772	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:60464772T>A	ENST00000305286.3	+	3	224	c.146T>A	c.(145-147)aTg>aAg	p.M49K	EFCAB3_ENST00000450662.2_Missense_Mutation_p.M101K	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.M49K(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTTCACAAATGGCAGGTAAT	0.363																																						uc002izu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)ATG>AAG		EF-hand calcium binding domain 3 isoform b							84.0	77.0	79.0					17																	60464772		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60464772T>A	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.146T>A	17.37:g.60464772T>A	ENSP00000302649:p.Met49Lys					EFCAB3_uc010wpc.1_Missense_Mutation_p.M101K	p.M49K	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		3	224	+			49			EF-hand 1.		J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.146T>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820625	0.32145	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.56275	3.04;0.47;0.48;0.5	4.71	4.71	0.59529	EF-hand-like domain (1);	1.461700	0.03668	N	0.243488	T	0.31918	0.0812	N	0.02916	-0.46	0.26679	N	0.971571	B;B	0.23058	0.04;0.079	B;B	0.20384	0.021;0.029	T	0.16808	-1.0390	10	0.17369	T	0.5	.	10.7446	0.46172	0.0:0.0:0.0:1.0	.	49;49	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	K	101;49;49;49	ENSP00000403932:M101K;ENSP00000302649:M49K;ENSP00000429124:M49K;ENSP00000428626:M49K	ENSP00000302649:M49K	M	+	2	0	EFCAB3	57818504	0.999000	0.42202	0.873000	0.34254	0.520000	0.34377	1.896000	0.39789	2.099000	0.63709	0.455000	0.32223	ATG		PASS	0.363	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		51	77	51	77	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60813357	60813357	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:60813357G>A	ENST00000311269.5	-	6	2146	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Silent_p.F623F|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Silent_p.F624F|MARCH10_ENST00000583600.1_Silent_p.F662F	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	624					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F624F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTCATCTGTGAAACCAGAGG	0.383																																						uc010ddr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1870-1872)TTC>TTT		ring finger protein 190							86.0	89.0	88.0					17																	60813357		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60813357G>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1872C>T	17.37:g.60813357G>A						MARCH10_uc002jag.3_Silent_p.F624F|MARCH10_uc010dds.2_Silent_p.F662F|MARCH10_uc002jah.2_Silent_p.F623F|uc002jaj.1_RNA|uc002jak.2_Intron	p.F624F	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	2110	-			624					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.1872C>T	CCDS11635.1																																																																																				PASS	0.383	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		48	202	48	202	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63193283	63193283	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:63193283C>A	ENST00000262406.9	+	13	967	c.900C>A	c.(898-900)gcC>gcA	p.A300A	RGS9_ENST00000449996.3_Silent_p.A297A|RGS9_ENST00000443584.3_Silent_p.A297A	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	300	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.A300A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACGATGGGCCTTCAACTTCA	0.488																																						uc002jfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(898-900)GCC>GCA		regulator of G-protein signaling 9 isoform 1							66.0	64.0	65.0					17																	63193283		1913	4129	6042	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63193283C>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.900C>A	17.37:g.63193283C>A						RGS9_uc010dem.2_Silent_p.A297A|RGS9_uc002jfd.2_Silent_p.A297A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.A71A	p.A300A	NM_003835	NP_003826	O75916	RGS9_HUMAN			13	1010	+			300			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.900C>A	CCDS42373.1																																																																																				PASS	0.488	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		14	28	14	28	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64299066	64299066	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:64299066G>A	ENST00000413366.3	+	1	123	c.97G>A	c.(97-99)Gag>Aag	p.E33K	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	33					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.E33K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GAACGTGCACGAGGTGAAGGA	0.627																																						uc002jfp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(97-99)GAG>AAG		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						109.0	93.0	98.0					17																	64299066		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299066G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.97G>A	17.37:g.64299066G>A	ENSP00000408695:p.Glu33Lys					PRKCA_uc002jfo.1_5'UTR	p.E33K	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		1	141	+			33					B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.97G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821607	0.50633	.	.	ENSG00000154229	ENST00000413366	D	0.82167	-1.58	3.33	1.17	0.20885	.	0.000000	0.52532	U	0.000068	T	0.75421	0.3847	L	0.61387	1.9	0.47862	D	0.999532	B	0.27559	0.181	B	0.18871	0.023	T	0.64879	-0.6303	10	0.39692	T	0.17	.	7.198	0.25864	0.1025:0.1726:0.7249:0.0	.	33	P17252	KPCA_HUMAN	K	33	ENSP00000408695:E33K	ENSP00000408695:E33K	E	+	1	0	PRKCA	61729528	1.000000	0.71417	0.046000	0.18839	0.899000	0.52679	5.436000	0.66538	-0.029000	0.13827	0.205000	0.17691	GAG		PASS	0.627	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			5	137	5	137	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65918992	65918992	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:65918992G>T	ENST00000321892.4	+	16	6033	c.5972G>T	c.(5971-5973)aGt>aTt	p.S1991I	BPTF_ENST00000335221.5_Missense_Mutation_p.S1991I|BPTF_ENST00000306378.6_Missense_Mutation_p.S1865I|BPTF_ENST00000424123.3_Missense_Mutation_p.S1852I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1991					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1865I(1)|p.S1991I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCGATCAAGTGCACTGCGG	0.433																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(5593-5595)AGT>ATT		bromodomain PHD finger transcription factor							104.0	94.0	97.0					17																	65918992		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65918992G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5972G>T	17.37:g.65918992G>T	ENSP00000315454:p.Ser1991Ile					BPTF_uc002jge.2_Missense_Mutation_p.S1991I	p.S1865I	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		14	5655	+	all_cancers(12;6e-11)		1991					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5594G>T		.	.	.	.	.	.	.	.	.	.	G	19.74	3.884099	0.72410	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.14516	2.5;2.5;2.5	5.25	5.25	0.73442	.	.	.	.	.	T	0.36663	0.0975	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.07927	-1.0747	9	0.87932	D	0	-12.5219	18.9223	0.92530	0.0:0.0:1.0:0.0	.	1865;1991	Q12830-2;Q12830-4	.;.	I	1865;1991;1991	ENSP00000307208:S1865I;ENSP00000334351:S1991I;ENSP00000315454:S1991I	ENSP00000307208:S1865I	S	+	2	0	BPTF	63349454	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.803000	0.99136	2.467000	0.83353	0.552000	0.68991	AGT		PASS	0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		41	69	41	69	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67181617	67181617	+	Splice_Site	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:67181617C>T	ENST00000269081.4	-	21	3407		c.e21+1		ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCATTTCTCACCTGTATTATT	0.373																																						uc010dfa.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.e21+1		ATP-binding cassette, sub-family A, member 10							60.0	59.0	59.0					17																	67181617		2203	4300	6503	SO:0001630	splice_region_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67181617C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2497+1G>A	17.37:g.67181617C>T						ABCA10_uc010wqt.1_Splice_Site|ABCA10_uc010dfb.1_Splice_Site_p.G434_splice	p.G833_splice	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			21	3376	-	Breast(10;6.95e-12)							C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	SNP	ENST00000269081.4	37	c.2497_splice	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832282	0.71258	.	.	ENSG00000154263	ENST00000269081	.	.	.	2.81	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3666	0.49675	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA10	64693212	1.000000	0.71417	0.801000	0.32222	0.756000	0.42949	2.564000	0.45931	1.557000	0.49525	0.557000	0.71058	.		PASS	0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Intron	30	57	30	57	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67300870	67300870	+	Missense_Mutation	SNP	T	T	A	rs375612299		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:67300870T>A	ENST00000392676.3	-	7	934	c.870A>T	c.(868-870)ttA>ttT	p.L290F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L290F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L290F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	290					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L290F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTGAGGAAATAACAAAGAAG	0.323																																						uc002jif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(868-870)TTA>TTT		ATP-binding cassette, sub-family A , member 5							66.0	66.0	66.0					17																	67300870		2203	4296	6499	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300870T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.870A>T	17.37:g.67300870T>A	ENSP00000376443:p.Leu290Phe					ABCA5_uc002jie.2_5'Flank|ABCA5_uc002jig.2_Missense_Mutation_p.L290F|ABCA5_uc002jih.2_Missense_Mutation_p.L290F|ABCA5_uc010dfe.2_Missense_Mutation_p.L290F	p.L290F	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			6	2088	-	Breast(10;3.72e-11)		290					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.870A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	9.005	0.981084	0.18812	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.83506	-1.73;-1.73	5.54	2.09	0.27110	.	0.000000	0.45867	D	0.000327	T	0.81735	0.4885	L	0.36672	1.1	0.41143	D	0.985976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.76143	-0.3067	9	.	.	.	.	1.6342	0.02738	0.1129:0.2304:0.1668:0.49	.	290;290	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	F	290	ENSP00000376444:L290F;ENSP00000376443:L290F	.	L	-	3	2	ABCA5	64812465	0.329000	0.24696	0.592000	0.28758	0.966000	0.64601	-0.456000	0.06754	0.065000	0.16485	0.460000	0.39030	TTA		PASS	0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		41	60	41	60	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73492462	73492462	+	Silent	SNP	C	C	T	rs368335429	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:73492462C>T	ENST00000314256.7	+	24	3547	c.3153C>T	c.(3151-3153)ccC>ccT	p.P1051P	KIAA0195_ENST00000375248.5_Silent_p.P1061P|KIAA0195_ENST00000579208.1_Silent_p.P702P|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1051						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P1051P(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTTTCTCCCCTGCAGCTGT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20596	0.0		0.0	False		,,,				2504	0.0					uc002jnz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3151-3153)CCC>CCT		hypothetical protein LOC9772		C		3,4403	6.2+/-15.9	0,3,2200	77.0	68.0	71.0		3153	-0.4	1.0	17		71	0,8600		0,0,4300	no	coding-synonymous	KIAA0195	NM_014738.4		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1051/1357	73492462	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492462C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3153C>T	17.37:g.73492462C>T						KIAA0195_uc010wsa.1_Silent_p.P1061P|KIAA0195_uc010wsb.1_Silent_p.P691P|KIAA0195_uc002job.3_Silent_p.P59P	p.P1051P	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		24	3428	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1051					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.3153C>T	CCDS32732.1																																																																																				PASS	0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		41	59	41	59	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78268622	78268622	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:78268622G>A	ENST00000582970.1	+	9	1718	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	RNF213_ENST00000456466.1_Silent_p.G525G|RNF213_ENST00000319921.4_Silent_p.G525G|RNF213_ENST00000508628.2_Silent_p.G574G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	525					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G525G(2)|p.G574G(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGTGAAGGGGAAGCAGATTG	0.532																																						uc002jyf.2																			3	Substitution - coding silent(3)		lung(3)								c.(1573-1575)GGG>GGA		hypothetical protein LOC57714							109.0	99.0	102.0					17																	78268622		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:78268622G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1575G>A	17.37:g.78268622G>A						uc002jyg.1_Silent_p.G256G	p.G525G	NM_020954	NP_066005					9	1718	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1575G>A	CCDS58606.1																																																																																				PASS	0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	64	18	64	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78269537	78269537	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:78269537C>T	ENST00000582970.1	+	10	2079	c.1936C>T	c.(1936-1938)Cac>Tac	p.H646Y	RNF213_ENST00000456466.1_Missense_Mutation_p.H646Y|RNF213_ENST00000319921.4_Missense_Mutation_p.H646Y|RNF213_ENST00000508628.2_Missense_Mutation_p.H695Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	646					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H646Y(2)|p.H695Y(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGGTTGTGTCACCTCCTAAC	0.443																																						uc002jyf.2																			3	Substitution - Missense(3)		lung(3)								c.(1936-1938)CAC>TAC		hypothetical protein LOC57714							129.0	117.0	121.0					17																	78269537		2203	4300	6503	SO:0001583	missense	0							g.chr17:78269537C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1936C>T	17.37:g.78269537C>T	ENSP00000464087:p.His646Tyr					uc002jyg.1_Missense_Mutation_p.H377Y	p.H646Y	NM_020954	NP_066005					10	2079	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1936C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	2.875	-0.233217	0.05983	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T	0.22539	1.95	4.15	-8.31	0.01001	.	3.381540	0.00728	N	0.000936	T	0.08582	0.0213	N	0.13043	0.29	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.28202	-1.0051	10	0.12430	T	0.62	0.1699	1.8795	0.03225	0.408:0.1122:0.0907:0.3892	.	646;646	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	Y	646;695;646;646	ENSP00000425956:H646Y	ENSP00000324392:H646Y	H	+	1	0	RNF213	75884132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.703000	0.00822	-2.991000	0.00279	-1.157000	0.01802	CAC		PASS	0.443	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		27	91	27	91	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78272202	78272202	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:78272202G>T	ENST00000582970.1	+	11	2237	c.2094G>T	c.(2092-2094)ctG>ctT	p.L698L	RNF213_ENST00000456466.1_Silent_p.L698L|RNF213_ENST00000319921.4_Silent_p.L698L|RNF213_ENST00000508628.2_Silent_p.L747L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	698					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L698L(2)|p.L747L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCTGTCCTGCACTGCTGTA	0.622																																						uc002jyf.2																			3	Substitution - coding silent(3)		lung(3)								c.(2092-2094)CTG>CTT		hypothetical protein LOC57714							71.0	58.0	62.0					17																	78272202		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:78272202G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2094G>T	17.37:g.78272202G>T						uc002jyg.1_Silent_p.L429L	p.L698L	NM_020954	NP_066005					11	2237	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.2094G>T	CCDS58606.1																																																																																				PASS	0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	55	21	55	---	---	---	---
FSCN2	25794	broad.mit.edu	37	17	79503906	79503906	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:79503906G>T	ENST00000417245.2	+	5	1415	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	FSCN2_ENST00000334850.7_Missense_Mutation_p.D451Y	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	427					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.D451Y(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCCAGGCCGCGACGGAGGGTT	0.766																																						uc010wup.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1279-1281)GAC>TAC		fascin 2 isoform 1							6.0	8.0	7.0					17																	79503906		1710	3808	5518	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503906G>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1279G>T	17.37:g.79503906G>T	ENSP00000388716:p.Asp427Tyr					FSCN2_uc010wuo.1_Missense_Mutation_p.D451Y	p.D427Y	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1420	+	all_neural(118;0.0878)|Melanoma(429;0.242)		427					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.1279G>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181762	0.57800	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.47869	0.83;1.48	4.67	4.67	0.58626	Fascin domain (1);Actin cross-linking (1);	0.356764	0.29916	N	0.010870	T	0.47097	0.1427	L	0.27053	0.805	0.25981	N	0.982377	P;P	0.43392	0.557;0.805	P;P	0.49226	0.555;0.603	T	0.47861	-0.9084	10	0.66056	D	0.02	-9.561	16.3387	0.83075	0.0:0.0:1.0:0.0	.	427;451	O14926;A8MRA6	FSCN2_HUMAN;.	Y	427;451	ENSP00000388716:D427Y;ENSP00000334665:D451Y	ENSP00000334665:D451Y	D	+	1	0	FSCN2	77114382	0.115000	0.22152	0.997000	0.53966	0.370000	0.29829	1.300000	0.33436	2.134000	0.65973	0.484000	0.47621	GAC		PASS	0.766	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		12	14	12	14	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5438111	5438111	+	Splice_Site	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:5438111T>A	ENST00000341928.2	-	6	870		c.e6-2		EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAGCACCACCTGCAAGGATGG	0.403																																						uc002kmt.1																			1	Unknown(1)		lung(1)	ovary(5)	5						c.e6-1		erythrocyte membrane protein band 4.1-like 3							78.0	78.0	78.0					18																	5438111		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5438111T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.530-2A>T	18.37:g.5438111T>A						EPB41L3_uc010wzh.1_Splice_Site_p.S177_splice|EPB41L3_uc002kmu.1_Splice_Site_p.S177_splice|EPB41L3_uc010dkq.1_Splice_Site_p.S68_splice|EPB41L3_uc010dks.1_Splice_Site_p.S199_splice|EPB41L3_uc002kmv.1_Splice_Site_p.S68_splice	p.S177_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			6	616	-								B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.530_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358785	0.82243	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L3	5428111	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.928000	0.87587	2.288000	0.76882	0.482000	0.46254	.		PASS	0.403	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Intron	28	28	28	28	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7231415	7231415	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:7231415G>C	ENST00000383467.2	+	1	293	c.279G>C	c.(277-279)ctG>ctC	p.L93L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	93								p.L93L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGGAAACTGACCCGGATCG	0.572																																						uc010wzk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)	2						c.(277-279)CTG>CTC		leucine rich repeat containing 30							49.0	52.0	51.0					18																	7231415		1931	4134	6065	SO:0001819	synonymous_variant	339291							g.chr18:7231415G>C		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.279G>C	18.37:g.7231415G>C							p.L93L	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	279	+			93			LRR 1.			Silent	SNP	ENST00000383467.2	37	c.279G>C	CCDS42409.1																																																																																				PASS	0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		11	74	11	74	---	---	---	---
RAB12	201475	broad.mit.edu	37	18	8609899	8609899	+	Silent	SNP	G	G	C	rs201144141		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:8609899G>C	ENST00000329286.6	+	1	457	c.174G>C	c.(172-174)ctG>ctC	p.L58L		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	58					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.L58L(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						AGACCAGCCTGATGGAGCGCT	0.716																																						uc002knp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)CTG>CTC		RAB12, member RAS oncogene family							16.0	21.0	20.0					18																	8609899		1990	4193	6183	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609899G>C		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.174G>C	18.37:g.8609899G>C						RAB12_uc002kno.1_Silent_p.L154L	p.L58L	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			1	457	+			58					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.174G>C	CCDS42410.1																																																																																				PASS	0.716	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		11	31	11	31	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9255357	9255357	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:9255357G>C	ENST00000262126.4	+	9	2332	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E675Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E675Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	698						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E698Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						attttggaaagagaatttttt	0.279																																						uc002knv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2092-2094)GAG>CAG		ankyrin repeat domain 12 isoform 1							41.0	46.0	44.0					18																	9255357		2128	4179	6307	SO:0001583	missense	23253					nucleus		g.chr18:9255357G>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2092G>C	18.37:g.9255357G>C	ENSP00000262126:p.Glu698Gln					ANKRD12_uc002knw.2_Missense_Mutation_p.E675Q|ANKRD12_uc002knx.2_Missense_Mutation_p.E675Q|ANKRD12_uc010dkx.1_Missense_Mutation_p.E405Q	p.E698Q	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2349	+			698					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.2092G>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370791	0.61624	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95642	0.8583	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.983	D	0.96014	0.9004	10	0.87932	D	0	-22.5349	18.7884	0.91964	0.0:0.0:1.0:0.0	.	325;675;698	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	675;698;405	ENSP00000372932:E675Q;ENSP00000262126:E698Q	ENSP00000262126:E698Q	E	+	1	0	ANKRD12	9245357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.505000	0.84491	0.460000	0.39030	GAG		PASS	0.279	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		19	52	19	52	---	---	---	---
TUBB6	84617	broad.mit.edu	37	18	12325637	12325637	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:12325637C>A	ENST00000317702.5	+	4	1083	c.849C>A	c.(847-849)gcC>gcA	p.A283A	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	283					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A283A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		AGTACCGGGCCCTGACCGTGC	0.682																																						uc002kqw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(847-849)GCC>GCA		tubulin, beta 6							38.0	36.0	37.0					18																	12325637		2200	4296	6496	SO:0001819	synonymous_variant	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325637C>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.849C>A	18.37:g.12325637C>A						TUBB6_uc002kqv.2_Silent_p.A211A|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.A246A|TUBB6_uc002kqy.2_Intron	p.A283A	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	894	+			283					B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	c.849C>A	CCDS11858.1																																																																																				PASS	0.682	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		23	76	23	76	---	---	---	---
ANKRD20A5P	440482	broad.mit.edu	37	18	14183765	14183765	+	RNA	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:14183765G>T	ENST00000581935.1	+	0	616							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene									p.Q58H(1)		lung(3)	3						CTTTGATACAGGTATATTAGA	0.353																																						uc010xag.1																			1	Substitution - Missense(1)		lung(1)								c.(316-318)CAG>CAT		RecName: Full=Putative ankyrin repeat domain-containing protein 20A5;							68.0	68.0	68.0					18																	14183765		2203	4300	6503			0							g.chr18:14183765G>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183765G>T						uc002ksv.1_5'Flank	p.Q106H							2	616	+								Q4G1B6	Missense_Mutation	SNP	ENST00000581935.1	37	c.318G>T																																																																																					PASS	0.353	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			4	166	4	166	---	---	---	---
RBBP8	5932	broad.mit.edu	37	18	20564878	20564878	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:20564878C>T	ENST00000399722.2	+	8	985	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	RBBP8_ENST00000360790.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000327155.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000399725.2_Missense_Mutation_p.H212Y	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	212					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.H212Y(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GTCTTCAACTCATCCACAACA	0.308								Homologous recombination																														uc002ktw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(634-636)CAT>TAT	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							82.0	81.0	82.0					18																	20564878		2203	4298	6501	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20564878C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.634C>T	18.37:g.20564878C>T	ENSP00000382628:p.His212Tyr					RBBP8_uc002kty.2_Missense_Mutation_p.H212Y|RBBP8_uc002ktz.2_Missense_Mutation_p.H212Y|RBBP8_uc002kua.2_Missense_Mutation_p.H212Y|RBBP8_uc002ktx.1_Missense_Mutation_p.H212Y	p.H212Y	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		8	965	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		212					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.634C>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525208	0.44969	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.31510	1.51;1.49;1.51;1.51;1.51	5.65	4.76	0.60689	.	0.766529	0.12485	N	0.464727	T	0.31136	0.0787	L	0.51422	1.61	0.80722	D	1	P;B;P	0.36086	0.536;0.396;0.536	B;B;B	0.37198	0.243;0.188;0.243	T	0.02942	-1.1091	10	0.38643	T	0.18	-5.3807	11.8236	0.52254	0.1755:0.8245:0.0:0.0	.	212;212;212	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Y	212	ENSP00000323050:H212Y;ENSP00000382630:H212Y;ENSP00000382628:H212Y;ENSP00000382627:H212Y;ENSP00000354024:H212Y	ENSP00000323050:H212Y	H	+	1	0	RBBP8	18818876	0.313000	0.24554	0.906000	0.35671	0.980000	0.70556	1.181000	0.32017	1.343000	0.45638	0.561000	0.74099	CAT		PASS	0.308	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		16	85	16	85	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32886644	32886644	+	RNA	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:32886644C>G	ENST00000399070.3	+	0	1038					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.S19C(1)		large_intestine(3)|lung(9)	12						ATCAGAGAATCCATACTGGGG	0.403																																						uc002kyq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)TCC>TGC		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							63.0	66.0	65.0					18																	32886644		2203	4300	6503			10778							g.chr18:32886644C>G	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886644C>G						ZNF271_uc002kyp.3_Missense_Mutation_p.S19C|ZNF271_uc002kyr.3_Missense_Mutation_p.S19C	p.S19C	NR_024565						3	1048	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37	c.56C>G																																																																																					PASS	0.403	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		3	69	3	69	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34854387	34854387	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:34854387C>G	ENST00000591282.1	-	6	687	c.688G>C	c.(688-690)Gcc>Ccc	p.A230P	CELF4_ENST00000420428.2_Missense_Mutation_p.A230P|CELF4_ENST00000412753.1_Missense_Mutation_p.A230P|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Missense_Mutation_p.A230P|CELF4_ENST00000361795.5_Missense_Mutation_p.A229P|CELF4_ENST00000334919.5_Missense_Mutation_p.A220P|CELF4_ENST00000588597.1_Missense_Mutation_p.A219P|CELF4_ENST00000591287.1_Missense_Mutation_p.A229P|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.A229P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	230	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A230P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGGTGTCGGCGAACTTGACC	0.687																																						uc002lae.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(688-690)GCC>CCC		bruno-like 4, RNA binding protein isoform 1																																				SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854387C>G	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.688G>C	18.37:g.34854387C>G	ENSP00000464794:p.Ala230Pro					CELF4_uc010dnd.1_Missense_Mutation_p.A229P|CELF4_uc002lag.2_Missense_Mutation_p.A220P|CELF4_uc002laf.2_Missense_Mutation_p.A225P|CELF4_uc002lai.2_Missense_Mutation_p.A215P|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R65P	p.A230P	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			6	1084	-			230			Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.688G>C	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864166	0.91511	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.09538	2.97;2.97	4.79	3.91	0.45181	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.110652	0.64402	D	0.000009	T	0.40015	0.1100	M	0.91561	3.22	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.951	D;D;D;D;P	0.91635	0.998;0.99;0.999;0.996;0.572	T	0.51521	-0.8695	10	0.87932	D	0	-0.2321	12.8485	0.57844	0.0:0.9215:0.0:0.0785	.	229;219;220;229;230	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	P	230;230;229;220;113	ENSP00000406823:A230P;ENSP00000335631:A220P	ENSP00000335631:A220P	A	-	1	0	CELF4	33108385	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.458000	0.80787	1.244000	0.43870	0.561000	0.74099	GCC		PASS	0.687	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		39	96	39	96	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40853715	40853715	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:40853715C>A	ENST00000255224.3	-	2	1047	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W	SYT4_ENST00000590752.1_Missense_Mutation_p.G209W|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	227	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G227W(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TAGGGTATCCCATAGAATGTA	0.393																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			4	Substitution - Missense(4)		upper_aerodigestive_tract(2)|lung(2)	skin(5)	5						c.(679-681)GGG>TGG		synaptotagmin IV							104.0	102.0	103.0					18																	40853715		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853715C>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.679G>T	18.37:g.40853715C>A	ENSP00000255224:p.Gly227Trp					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.G209W|SYT4_uc010dnh.2_Intron	p.G227W	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	1048	-			227			Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.679G>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158170	0.78114	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.42131	0.98	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76547	-0.2919	10	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	209;227	B4DEU3;Q9H2B2	.;SYT4_HUMAN	W	227;32	ENSP00000255224:G227W	ENSP00000255224:G227W	G	-	1	0	SYT4	39107713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.865000	0.98341	0.655000	0.94253	GGG		PASS	0.393	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		37	74	37	74	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61228335	61228335	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:61228335G>C	ENST00000269491.1	+	4	402	c.402G>C	c.(400-402)gtG>gtC	p.V134V	SERPINB12_ENST00000382768.1_Silent_p.V154V	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	134					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V134V(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TAGATGGTGTGATTCAATTTT	0.388																																						uc010xen.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)GTG>GTC		serine (or cysteine) proteinase inhibitor, clade							127.0	123.0	125.0					18																	61228335		2203	4300	6503	SO:0001819	synonymous_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61228335G>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.402G>C	18.37:g.61228335G>C						SERPINB12_uc010xeo.1_Silent_p.V154V	p.V134V	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			4	402	+			134					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.402G>C	CCDS11984.1																																																																																				PASS	0.388	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		3	179	3	179	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999460	72999460	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:72999460G>T	ENST00000580243.1	+	2	2446	c.2098G>T	c.(2098-2100)Ggg>Tgg	p.G700W	TSHZ1_ENST00000322038.5_Missense_Mutation_p.G655W			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	700				GK -> WE (in Ref. 4; AAC18047). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G655W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCGAGACTGGGAAGGCCAA	0.552																																						uc002lly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1963-1965)GGG>TGG		teashirt family zinc finger 1							97.0	87.0	91.0					18																	72999460		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999460G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2098G>T	18.37:g.72999460G>T	ENSP00000464391:p.Gly700Trp						p.G655W	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2526	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	700	GK -> WE (in Ref. 4; AAC18047).				O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1963G>T		.	.	.	.	.	.	.	.	.	.	G	0.367	-0.935941	0.02340	.	.	ENSG00000179981	ENST00000322038	T	0.38401	1.14	4.59	2.7	0.31948	.	1.038480	0.07532	N	0.912305	T	0.24586	0.0596	N	0.22421	0.69	0.30921	N	0.728022	P	0.47106	0.89	B	0.39971	0.315	T	0.22661	-1.0210	10	0.72032	D	0.01	-22.9893	5.3922	0.16249	0.2092:0.2708:0.5199:0.0	.	700	Q6ZSZ6	TSH1_HUMAN	W	655	ENSP00000323584:G655W	ENSP00000323584:G655W	G	+	1	0	TSHZ1	71128448	0.994000	0.37717	0.382000	0.26119	0.518000	0.34316	2.696000	0.47052	0.545000	0.28902	0.561000	0.74099	GGG		PASS	0.552	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		15	35	15	35	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76756976	76756976	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr18:76756976G>T	ENST00000537592.2	+	3	3557	c.3557G>T	c.(3556-3558)gGg>gTg	p.G1186V	SALL3_ENST00000575389.2_Missense_Mutation_p.G1114V|SALL3_ENST00000536229.3_Missense_Mutation_p.G981V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1186					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1186V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTCTCCTAGGGGGTGATGCC	0.602																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3556-3558)GGG>GTG		sal-like 3							43.0	45.0	44.0					18																	76756976		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756976G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3557G>T	18.37:g.76756976G>T	ENSP00000441823:p.Gly1186Val					SALL3_uc010dra.2_Missense_Mutation_p.G721V	p.G1186V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3557	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1186					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3557G>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300839	0.40694	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10382	2.88	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000019	T	0.41050	0.1142	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.49273	-0.8957	10	0.87932	D	0	-31.3989	18.5211	0.90952	0.0:0.0:1.0:0.0	.	846;1186	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	1186;1114;846	ENSP00000441823:G1186V	ENSP00000299466:G1186V	G	+	2	0	SALL3	74857964	1.000000	0.71417	0.356000	0.25785	0.895000	0.52256	9.782000	0.99034	2.351000	0.79841	0.561000	0.74099	GGG		PASS	0.602	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		44	31	44	31	---	---	---	---
APC2	10297	broad.mit.edu	37	19	1468499	1468499	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:1468499C>G	ENST00000535453.1	+	14	6912	c.5199C>G	c.(5197-5199)ccC>ccG	p.P1733P	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1733P|APC2_ENST00000238483.4_Silent_p.P1459P			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.P1733P(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGCCCCCCAAGCACAGGA	0.667																																						uc002lsr.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|pancreas(1)	4						c.(5197-5199)CCC>CCG		adenomatosis polyposis coli 2							28.0	35.0	32.0					19																	1468499		2187	4290	6477	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1468499C>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5199C>G	19.37:g.1468499C>G						APC2_uc002lss.1_Silent_p.P1315P|APC2_uc002lst.1_Silent_p.P1733P|APC2_uc002lsu.1_Silent_p.P1732P|C19orf25_uc010xgn.1_Intron	p.P1733P	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	5407	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1733					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.5199C>G	CCDS12068.1																																																																																				PASS	0.667	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		8	25	8	25	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056897	9056897	+	Silent	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:9056897T>A	ENST00000397910.4	-	3	30752	c.30549A>T	c.(30547-30549)ccA>ccT	p.P10183P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10185	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5816P(1)|p.P10183P(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						GTGTATTTGTTGGTGTGACTG	0.458																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30547-30549)CCA>CCT		mucin 16							145.0	144.0	144.0					19																	9056897		1987	4161	6148	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056897T>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.30549A>T	19.37:g.9056897T>A							p.P10183P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30753	-			10185			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30549A>T	CCDS54212.1																																																																																				PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	38	35	38	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088876	9088876	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:9088876G>A	ENST00000397910.4	-	1	3142	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	980	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.S980L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTTGCTGAAGGTAACCC	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.(2938-2940)TCA>TTA		mucin 16							267.0	255.0	259.0					19																	9088876		2008	4177	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088876G>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.2939C>T	19.37:g.9088876G>A	ENSP00000381008:p.Ser980Leu						p.S980L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3143	-			980			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2939C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.613	0.481552	0.12581	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.31	0.203	0.15195	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.31730	0.337	B	0.22152	0.038	T	0.44544	-0.9321	8	0.87932	D	0	.	3.597	0.08010	0.2705:0.0:0.7295:0.0	.	980	B5ME49	.	L	980	ENSP00000381008:S980L	ENSP00000381008:S980L	S	-	2	0	MUC16	8949876	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	-0.517000	0.06275	0.101000	0.17610	0.205000	0.17691	TCA		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	328	8	328	---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10578192	10578192	+	Silent	SNP	C	C	T	rs532788597		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:10578192C>T	ENST00000352831.6	+	15	2666	c.2556C>T	c.(2554-2556)caC>caT	p.H852H	PDE4A_ENST00000293683.5_Silent_p.H826H|PDE4A_ENST00000344979.3_Silent_p.H613H|PDE4A_ENST00000380702.2_Silent_p.H830H|PDE4A_ENST00000592685.1_Silent_p.H830H|PDE4A_ENST00000440014.2_Silent_p.H791H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	852					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.H613H(2)|p.H791H(1)|p.H826H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AACGAGAGCACCAGGCTGCCA	0.682													c|||	1	0.000199681	0.0	0.0	5008	,	,		14565	0.0		0.0	False		,,,				2504	0.001					uc002moj.2																			4	Substitution - coding silent(4)	p.H613H(1)	lung(3)|central_nervous_system(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2554-2556)CAC>CAT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						41.0	44.0	43.0					19																	10578192		2177	4252	6429	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578192C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2556C>T	19.37:g.10578192C>T						PDE4A_uc002mok.2_Silent_p.H826H|PDE4A_uc002mol.2_Silent_p.H791H|PDE4A_uc002mom.2_Silent_p.H613H|PDE4A_uc002mon.2_Silent_p.H307H|PDE4A_uc002moo.2_3'UTR	p.H852H	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		15	2664	+			852					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.2556C>T	CCDS45961.1																																																																																				PASS	0.682	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			48	145	48	145	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10908188	10908188	+	Intron	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:10908188C>T	ENST00000355667.6	+	11	1415				DNM2_ENST00000359692.6_Intron|DNM2_ENST00000314646.5_Silent_p.A443A|DNM2_ENST00000408974.4_Silent_p.A443A|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Silent_p.A443A	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.A443A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AAAAGTGTGCCGAGAAGGTAA	0.478			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1327-1329)GCC>GCT		dynamin 2 isoform 2							135.0	117.0	123.0					19																	10908188		2203	4300	6503	SO:0001627	intron_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10908188C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-974C>T	19.37:g.10908188C>T						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Silent_p.A443A|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Silent_p.A176A	p.A443A	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1493	+			443					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1329C>T	CCDS45968.1																																																																																				PASS	0.478	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		25	126	25	126	---	---	---	---
RAB3D	9545	broad.mit.edu	37	19	11447869	11447869	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:11447869C>T	ENST00000222120.3	-	2	467	c.207G>A	c.(205-207)aaG>aaA	p.K69K	RAB3D_ENST00000589655.1_Silent_p.K69K	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	69					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.K69K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCTTGATCCTCTTGTCATGGC	0.542																																						uc002mqy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(205-207)AAG>AAA		RAB3D, member RAS oncogene family							208.0	199.0	202.0					19																	11447869		2203	4300	6503	SO:0001819	synonymous_variant	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11447869C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.207G>A	19.37:g.11447869C>T							p.K69K	NM_004283	NP_004274	O95716	RAB3D_HUMAN			2	445	-			69						Silent	SNP	ENST00000222120.3	37	c.207G>A	CCDS12257.1																																																																																				PASS	0.542	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		15	329	15	329	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11833647	11833647	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:11833647G>C	ENST00000341191.6	-	4	855	c.702C>G	c.(700-702)tcC>tcG	p.S234S	ZNF823_ENST00000545749.1_Silent_p.S52S	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	234					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.S234S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GTCTTAGATAGGAACTGTAAA	0.398										HNSCC(68;0.2)																												uc002msm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(700-702)TCC>TCG		ZFP-36 for a zinc finger protein							111.0	118.0	116.0					19																	11833647		2200	4299	6499	SO:0001819	synonymous_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833647G>C	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.702C>G	19.37:g.11833647G>C		HNSCC(68;0.2)				ZNF823_uc010xmd.1_Silent_p.S52S|ZNF823_uc010dyi.1_Silent_p.S190S	p.S234S	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	828	-			234			C2H2-type 3.		A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	c.702C>G	CCDS45981.1																																																																																				PASS	0.398	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		43	175	43	175	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11943034	11943034	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:11943034A>G	ENST00000304060.5	+	4	1207	c.1043A>G	c.(1042-1044)gAc>gGc	p.D348G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	348					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.D348G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTGGAAAAGACTTTTGTTCT	0.373																																						uc002msp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GAC>GGC		zinc finger protein 440							46.0	48.0	48.0					19																	11943034		2202	4300	6502	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943034A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1043A>G	19.37:g.11943034A>G	ENSP00000305373:p.Asp348Gly						p.D348G	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1199	+			348			C2H2-type 8.		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1043A>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.614177	0.00120	.	.	ENSG00000171295	ENST00000304060	T	0.17370	2.28	0.91	-1.82	0.07857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.04994	-0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36138	-0.9760	9	0.30078	T	0.28	.	9.9075	0.41386	0.1431:0.1687:0.6882:0.0	.	348	Q8IYI8	ZN440_HUMAN	G	348	ENSP00000305373:D348G	ENSP00000305373:D348G	D	+	2	0	ZNF440	11804034	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.327000	0.02682	-4.086000	0.00075	-4.514000	0.00005	GAC		PASS	0.373	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		21	58	21	58	---	---	---	---
ZNF136	7695	broad.mit.edu	37	19	12298172	12298172	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:12298172G>A	ENST00000343979.4	+	4	1119	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	ZNF136_ENST00000398616.2_Missense_Mutation_p.E261K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	327					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.E327K(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCGACTACATGAAAGAATTCA	0.428																																						uc002mti.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(979-981)GAA>AAA		zinc finger protein 136							93.0	94.0	94.0					19																	12298172		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298172G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.979G>A	19.37:g.12298172G>A	ENSP00000344162:p.Glu327Lys					ZNF136_uc010xmh.1_Missense_Mutation_p.E261K	p.E327K	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1079	+			327			C2H2-type 7.			Missense_Mutation	SNP	ENST00000343979.4	37	c.979G>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903406	0.52333	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.17370	2.28;2.28	1.25	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.04655	-0.195	0.25504	N	0.987522	B	0.17465	0.022	B	0.20955	0.032	T	0.41840	-0.9486	8	.	.	.	.	2.5356	0.04713	0.3728:0.2724:0.3548:0.0	.	327	P52737	ZN136_HUMAN	K	327;261	ENSP00000344162:E327K;ENSP00000381617:E261K	.	E	+	1	0	ZNF136	12159172	0.000000	0.05858	0.036000	0.18154	0.995000	0.86356	-1.467000	0.02352	0.089000	0.17243	0.655000	0.94253	GAA		PASS	0.428	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		4	138	4	138	---	---	---	---
RAD23A	5886	broad.mit.edu	37	19	13060094	13060094	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:13060094G>A	ENST00000586534.1	+	7	746	c.685G>A	c.(685-687)Gag>Aag	p.E229K	RAD23A_ENST00000541222.1_Missense_Mutation_p.E64K|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.E228K|RAD23A_ENST00000592268.1_Missense_Mutation_p.E229K			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	229					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)	p.E229K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						ACCAGCAGGAGAGAACCCCCT	0.632								Nucleotide excision repair (NER)																														uc002mvw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(685-687)GAG>AAG	NER	UV excision repair protein RAD23 homolog A							57.0	62.0	60.0					19																	13060094		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13060094G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.685G>A	19.37:g.13060094G>A	ENSP00000467024:p.Glu229Lys					RAD23A_uc002mvx.1_Missense_Mutation_p.E228K|RAD23A_uc002mvz.1_Missense_Mutation_p.E228K|RAD23A_uc002mwa.1_Missense_Mutation_p.E229K|RAD23A_uc002mvy.1_Missense_Mutation_p.E63K|RAD23A_uc010xmw.1_Missense_Mutation_p.E64K	p.E229K	NM_005053	NP_005044	P54725	RD23A_HUMAN			7	794	+			229					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.685G>A	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909591	0.33721	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.23348	1.91	5.03	4.0	0.46444	XPC-binding domain (2);	0.060233	0.64402	D	0.000004	T	0.13457	0.0326	N	0.08118	0	0.48571	D	0.999679	B;B;B	0.19706	0.038;0.019;0.017	B;B;B	0.32342	0.144;0.037;0.051	T	0.06427	-1.0827	10	0.06757	T	0.87	-0.1066	11.9773	0.53100	0.0856:0.0:0.9143:0.0	.	228;245;229	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	K	229;64	ENSP00000438741:E64K	ENSP00000321365:E229K	E	+	1	0	RAD23A	12921094	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	8.811000	0.91954	1.122000	0.41944	0.655000	0.94253	GAG		PASS	0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		9	92	9	92	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13215822	13215822	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:13215822G>A	ENST00000592062.1	-	18	2477	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	TRMT1_ENST00000357720.4_Missense_Mutation_p.A636V|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.A607V|TRMT1_ENST00000437766.1_Missense_Mutation_p.A636V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	636							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.A636V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACAGTCAGGGGCAGCATCAGC	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1906-1908)GCC>GTC		tRNA methyltransferase 1 isoform 1							90.0	99.0	96.0					19																	13215822		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13215822G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1907C>T	19.37:g.13215822G>A	ENSP00000466967:p.Ala636Val		OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.A240V|TRMT1_uc002mwk.2_Missense_Mutation_p.A607V|TRMT1_uc002mwl.3_Missense_Mutation_p.A636V	p.A636V	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	16	2157	-			636					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1907C>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	0.522	-0.861900	0.02610	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	3.74	-3.07	0.05363	.	1.744210	0.03401	N	0.203323	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.15378	-1.0439	9	0.14252	T	0.57	-0.7835	7.5344	0.27702	0.2456:0.127:0.6275:0.0	.	607;636	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	V	636;636;607	.	ENSP00000221504:A607V	A	-	2	0	TRMT1	13076822	0.282000	0.24268	0.000000	0.03702	0.002000	0.02628	0.281000	0.18810	-0.182000	0.10602	-1.267000	0.01435	GCC		PASS	0.622	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		7	280	7	280	---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14029608	14029608	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:14029608C>A	ENST00000318003.7	+	9	1237	c.996C>A	c.(994-996)ccC>ccA	p.P332P	CC2D1A_ENST00000589606.1_Silent_p.P332P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	332	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.P332P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTCCGACCCCCGCTACGGCGC	0.652																																						uc002mxo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(994-996)CCC>CCA		coiled-coil and C2 domain containing 1A							34.0	40.0	38.0					19																	14029608		1962	4143	6105	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14029608C>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.996C>A	19.37:g.14029608C>A						CC2D1A_uc002mxn.2_Silent_p.P231P|CC2D1A_uc002mxp.2_Silent_p.P332P|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	p.P332P	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		9	1295	+			332			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.996C>A	CCDS42512.1																																																																																				PASS	0.652	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		33	91	33	91	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535160	15535160	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:15535160C>A	ENST00000389282.4	-	9	4843	c.4630G>T	c.(4630-4632)Gat>Tat	p.D1544Y	WIZ_ENST00000263381.7_Missense_Mutation_p.D687Y|WIZ_ENST00000599910.2_Missense_Mutation_p.D861Y|WIZ_ENST00000599686.3_Missense_Mutation_p.D728Y|WIZ_ENST00000545156.1_Missense_Mutation_p.D858Y			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1544					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D858Y(1)|p.D1544Y(1)|p.D687Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCGGAGGCATCTGGAGGGCGG	0.637																																						uc002nbc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2581-2583)GAT>TAT		widely-interspaced zinc finger motifs							39.0	45.0	43.0					19																	15535160		1898	4100	5998	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535160C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4630G>T	19.37:g.15535160C>A	ENSP00000373933:p.Asp1544Tyr					WIZ_uc002nba.3_Missense_Mutation_p.D728Y|WIZ_uc002nbb.3_Missense_Mutation_p.D687Y	p.D861Y	NM_021241	NP_067064	O95785	WIZ_HUMAN			7	2604	-			1544					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.2581G>T		.	.	.	.	.	.	.	.	.	.	C	14.24	2.477520	0.44044	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02737	4.18	5.06	5.06	0.68205	.	0.545115	0.18812	N	0.130472	T	0.07279	0.0184	N	0.19112	0.55	0.24101	N	0.995874	P;D;P	0.71674	0.94;0.998;0.877	P;P;B	0.62089	0.564;0.898;0.365	T	0.27297	-1.0078	10	0.87932	D	0	-6.4625	17.2086	0.86924	0.0:1.0:0.0:0.0	.	1544;687;728	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	Y	1544;687;728;858	ENSP00000373933:D1544Y	ENSP00000263381:D687Y	D	-	1	0	WIZ	15396160	0.988000	0.35896	0.026000	0.17262	0.194000	0.23727	3.592000	0.53993	2.356000	0.79943	0.655000	0.94253	GAT		PASS	0.637	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		37	88	37	88	---	---	---	---
F2RL3	9002	broad.mit.edu	37	19	17001363	17001363	+	Silent	SNP	C	C	G	rs530112267		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:17001363C>G	ENST00000248076.3	+	2	1419	c.1089C>G	c.(1087-1089)acC>acG	p.T363T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	363					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.T363T(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGGGGGACACCGTGGCCTCCA	0.637																																						uc002nfa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)ACC>ACG		coagulation factor II (thrombin) receptor-like 3							20.0	19.0	20.0					19																	17001363		2201	4299	6500	SO:0001819	synonymous_variant	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17001363C>G	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1089C>G	19.37:g.17001363C>G							p.T363T	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	1264	+			363			Cytoplasmic (Potential).		O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	c.1089C>G	CCDS12350.1																																																																																				PASS	0.637	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			4	15	4	15	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17012067	17012067	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:17012067C>A	ENST00000443236.1	-	36	4898	c.4867G>T	c.(4867-4869)Gtg>Ttg	p.V1623L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1576						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1623L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCAGGGGCACCTCCAGGACA	0.602																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4867-4869)GTG>TTG		C3 and PZP-like, alpha-2-macroglobulin domain							25.0	29.0	28.0					19																	17012067		1994	4171	6165	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17012067C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4867G>T	19.37:g.17012067C>A	ENSP00000402505:p.Val1623Leu					CPAMD8_uc002nfd.1_Missense_Mutation_p.V88L	p.V1623L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			36	4899	-			1576					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4867G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.10|14.10	2.435432|2.435432	0.43224|0.43224	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.29|3.29	3.29|3.29	0.37713|0.37713	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.54775|0.54775	0.1879|0.1879	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.24269	.|0.052	T|T	0.54728|0.54728	-0.8250|-0.8250	5|9	.|0.38643	.|T	.|0.18	.|.	10.8114|10.8114	0.46549|0.46549	0.0:0.8073:0.1927:0.0|0.0:0.8073:0.1927:0.0	.|.	.|1576	.|Q8IZJ3	.|CPMD8_HUMAN	S|L	1633|1623	.|.	.|ENSP00000291440:V1623L	R|V	-|-	3|1	2|0	CPAMD8|CPAMD8	16873067|16873067	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.956000|0.956000	0.61745|0.61745	3.674000|3.674000	0.54598|0.54598	1.417000|1.417000	0.47077|0.47077	0.456000|0.456000	0.33151|0.33151	AGG|GTG		PASS	0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	21	4	21	---	---	---	---
COLGALT1	79709	broad.mit.edu	37	19	17678315	17678315	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:17678315C>T	ENST00000252599.4	+	4	710	c.590C>T	c.(589-591)gCg>gTg	p.A197V	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	197					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.A197V(1)									TCCCGGGCTGCGTACTCCAAC	0.592																																						uc002nhc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GCG>GTG		glycosyltransferase 25 domain containing 1							82.0	65.0	71.0					19																	17678315		2203	4300	6503	SO:0001583	missense	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17678315C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.590C>T	19.37:g.17678315C>T	ENSP00000252599:p.Ala197Val					GLT25D1_uc010eax.1_5'Flank	p.A197V	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			4	602	+			197					Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.590C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442180	0.63067	.	.	ENSG00000130309	ENST00000252599	T	0.23754	1.89	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.73319	2.225	0.80722	D	1	D	0.54207	0.965	P	0.46172	0.506	T	0.14811	-1.0459	10	0.19147	T	0.46	-12.8326	14.8241	0.70097	0.0:1.0:0.0:0.0	.	197	Q8NBJ5	GT251_HUMAN	V	197	ENSP00000252599:A197V	ENSP00000252599:A197V	A	+	2	0	GLT25D1	17539315	0.979000	0.34478	0.849000	0.33467	0.995000	0.86356	3.108000	0.50337	2.106000	0.64143	0.491000	0.48974	GCG		PASS	0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		8	28	8	28	---	---	---	---
COMP	1311	broad.mit.edu	37	19	18897348	18897348	+	Silent	SNP	C	C	T	rs368715216		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:18897348C>T	ENST00000222271.2	-	11	1292	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	COMP_ENST00000425807.1_Silent_p.P363P|COMP_ENST00000542601.2_Silent_p.P383P	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	416					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P416P(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCACCTGATCCGGGTTGCTCT	0.567																																						uc002nke.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1246-1248)CCG>CCA		cartilage oligomeric matrix protein precursor		C		1,4405	2.1+/-5.4	0,1,2202	130.0	99.0	109.0		1248	-1.9	1.0	19		109	0,8600		0,0,4300	no	coding-synonymous	COMP	NM_000095.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		416/758	18897348	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18897348C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1248G>A	19.37:g.18897348C>T						COMP_uc002nkd.2_Silent_p.P383P|COMP_uc010xqj.1_Silent_p.P363P	p.P416P	NM_000095	NP_000086	P49747	COMP_HUMAN			11	1284	-			416			TSP type-3 5.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.1248G>A	CCDS12385.1																																																																																				PASS	0.567	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		8	55	8	55	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044144	20044144	+	Missense_Mutation	SNP	C	C	A	rs376189915		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:20044144C>A	ENST00000343769.5	+	4	408	c.380C>A	c.(379-381)aCa>aAa	p.T127K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T127K(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AAGGTGCACACAGGAGGTTAT	0.333																																						uc002non.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(379-381)ACA>AAA		zinc finger protein 93							81.0	84.0	83.0					19																	20044144		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044144C>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.380C>A	19.37:g.20044144C>A	ENSP00000342002:p.Thr127Lys						p.T127K	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	491	+			127					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.380C>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.909967	0.00508	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.04502	3.61	0.85	0.85	0.18980	.	.	.	.	.	T	0.00967	0.0032	N	0.00143	-2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45934	-0.9227	9	0.02654	T	1	.	6.9971	0.24789	0.0:1.0:0.0:0.0	.	127	P35789	ZNF93_HUMAN	K	127	ENSP00000342002:T127K	ENSP00000342002:T127K	T	+	2	0	ZNF93	19905144	0.000000	0.05858	0.336000	0.25522	0.337000	0.28794	-0.766000	0.04725	0.192000	0.20272	0.195000	0.17529	ACA		PASS	0.333	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		26	67	26	67	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21365741	21365741	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:21365741C>T	ENST00000311048.7	+	5	779	c.635C>T	c.(634-636)tCa>tTa	p.S212L	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	212					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.S212L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAAATCATTTTGCATG	0.289																																						uc002npp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(634-636)TCA>TTA		zinc finger protein 431							38.0	41.0	40.0					19																	21365741		2201	4294	6495	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365741C>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.635C>T	19.37:g.21365741C>T	ENSP00000308578:p.Ser212Leu					ZNF431_uc010ecq.2_Missense_Mutation_p.S121L|ZNF431_uc010ecr.2_Missense_Mutation_p.S213L	p.S212L	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	782	+			212			C2H2-type 2.		A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.635C>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	2.716	-0.267665	0.05754	.	.	ENSG00000196705	ENST00000311048	T	0.01192	5.2	0.185	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	M	0.75447	2.3	0.21290	N	0.99973	B	0.31989	0.35	B	0.33339	0.162	T	0.39941	-0.9589	9	0.51188	T	0.08	.	3.3357	0.07100	0.0:0.3751:0.0:0.6249	.	212	Q8TF32	ZN431_HUMAN	L	212	ENSP00000308578:S212L	ENSP00000308578:S212L	S	+	2	0	ZNF431	21157581	0.000000	0.05858	0.162000	0.22713	0.186000	0.23388	-3.891000	0.00341	0.293000	0.22520	0.298000	0.19748	TCA		PASS	0.289	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		17	76	17	76	---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720081	21720081	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:21720081C>T	ENST00000358491.4	+	4	1434	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	409					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.S409F(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTTACCTGTTCCTCAACACTT	0.353																																						uc002nqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1225-1227)TCC>TTC		zinc finger protein 429							48.0	56.0	54.0					19																	21720081		2027	4220	6247	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720081C>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1226C>T	19.37:g.21720081C>T	ENSP00000351280:p.Ser409Phe					ZNF429_uc010ecu.1_Intron	p.S409F	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1363	+			409			C2H2-type 10; degenerate.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1226C>T	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	2.016	-0.425821	0.04701	.	.	ENSG00000197013	ENST00000358491	T	0.16196	2.36	0.185	0.185	0.15096	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17534	0.0421	M	0.79926	2.475	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.38693	-0.9649	9	0.15066	T	0.55	.	5.4744	0.16688	1.0E-4:0.3827:0.6172:0.0	.	409	Q86V71	ZN429_HUMAN	F	409	ENSP00000351280:S409F	ENSP00000351280:S409F	S	+	2	0	ZNF429	21511921	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	-2.196000	0.01241	0.293000	0.22520	0.298000	0.19748	TCC		PASS	0.353	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		15	45	15	45	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22255656	22255656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:22255656G>T	ENST00000594947.1	+	2	193	c.49G>T	c.(49-51)Gag>Tag	p.E17*	ZNF257_ENST00000600162.1_Nonsense_Mutation_p.E17*	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E17*(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTCTGGAGGAGTGGCATTG	0.443																																						uc010ecx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(49-51)GAG>TAG		zinc finger protein 257							166.0	167.0	167.0					19																	22255656		2203	4300	6503	SO:0001587	stop_gained	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22255656G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.49G>T	19.37:g.22255656G>T	ENSP00000470209:p.Glu17*					ZNF257_uc010ecy.2_5'UTR	p.E17*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			2	218	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	17			KRAB.		B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP	ENST00000594947.1	37	c.49G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824260	0.71143	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.9	0.9	0.19278	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.9573	0.14048	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000380312:E17X	E	+	1	0	ZNF257	22047496	0.807000	0.29009	0.801000	0.32222	0.805000	0.45488	1.751000	0.38339	0.308000	0.22923	0.313000	0.20887	GAG		PASS	0.443	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			62	97	62	97	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271355	22271356	+	Missense_Mutation	DNP	GG	GG	TT	rs367806154	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:22271355_22271356GG>TT	ENST00000594947.1	+	4	947_948	c.803_804GG>TT	c.(802-804)cGG>cTT	p.R268L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R268L(2)|p.R268R(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTTAACCGGTCTTCACACA	0.386																																						uc010ecx.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(802-804)CGG>CTG|c.(802-804)CGG>CGT		zinc finger protein 257																																				SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271355G>T|g.chr19:22271356G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	Exception_encountered	19.37:g.22271355_22271356delinsTT	ENSP00000470209:p.Arg268Leu					ZNF257_uc010ecy.2_Missense_Mutation_p.R236L|ZNF257_uc010ecy.2_Silent_p.R236R	p.R268L|p.R268R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	972|973	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	268			C2H2-type 4.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation|Silent	SNP	ENST00000594947.1	37	c.803G>T|c.804G>T	CCDS46030.1																																																																																				PASS	0.386	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			7|8	45|43	7	43	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363597	22363597	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:22363597G>T	ENST00000397121.2	-	3	1239	c.922C>A	c.(922-924)Ccc>Acc	p.P308T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	308					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.P308T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACTTGTAGGGTTTCTCTCCA	0.438																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)CCC>ACC		zinc finger protein 676							72.0	75.0	74.0					19																	22363597		2113	4248	6361	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363597G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.922C>A	19.37:g.22363597G>T	ENSP00000380310:p.Pro308Thr						p.P308T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1240	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	308					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.922C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386044	0.25031	.	.	ENSG00000196109	ENST00000397121	T	0.16897	2.31	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41213	0.1149	M	0.84511	2.7	0.33066	D	0.534724	D	0.89917	1.0	D	0.85130	0.997	T	0.53215	-0.8470	9	0.87932	D	0	.	8.4137	0.32659	0.0:0.0:1.0:0.0	.	308	Q8N7Q3	ZN676_HUMAN	T	308	ENSP00000380310:P308T	ENSP00000380310:P308T	P	-	1	0	ZNF676	22155437	0.954000	0.32549	0.028000	0.17463	0.028000	0.11728	2.903000	0.48711	0.192000	0.20272	0.195000	0.17529	CCC		PASS	0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		32	138	32	138	---	---	---	---
UQCRFS1	7386	broad.mit.edu	37	19	29698958	29698958	+	Missense_Mutation	SNP	C	C	T	rs141991079	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:29698958C>T	ENST00000304863.4	-	2	744	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	108					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.E108K(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTCCTAGCCTCGCTGCTTTCT	0.468																																						uc002nsd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GAG>AAG		ubiquinol-cytochrome c reductase, Rieske		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	103.0	81.0	88.0		322	4.4	0.7	19	dbSNP_134	88	0,8600		0,0,4300	no	missense	UQCRFS1	NM_006003.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	108/275	29698958	2,13004	2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698958C>T	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.322G>A	19.37:g.29698958C>T	ENSP00000306397:p.Glu108Lys						p.E108K	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	433	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		108					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.322G>A	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280532	0.23392	4.54E-4	0.0	ENSG00000169021	ENST00000304863	T	0.43294	0.95	5.42	4.37	0.52481	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.103648	0.64402	D	0.000004	T	0.45677	0.1354	M	0.78456	2.415	0.54753	D	0.999985	B	0.23058	0.079	B	0.19946	0.027	T	0.41734	-0.9492	10	0.33141	T	0.24	.	14.893	0.70623	0.0:0.8507:0.1493:0.0	.	108	P47985	UCRI_HUMAN	K	108	ENSP00000306397:E108K	ENSP00000306397:E108K	E	-	1	0	UQCRFS1	34390798	1.000000	0.71417	0.717000	0.30585	0.088000	0.18126	4.551000	0.60740	1.243000	0.43853	0.462000	0.41574	GAG		PASS	0.468	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		17	229	17	229	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039710	31039710	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:31039710G>T	ENST00000355537.3	+	4	3331	c.3184G>T	c.(3184-3186)Gac>Tac	p.D1062Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1062					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D1062Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCAAACAAAGACCTGGGCCT	0.537																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3184-3186)GAC>TAC		zinc finger protein 536							64.0	64.0	64.0					19																	31039710		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039710G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3184G>T	19.37:g.31039710G>T	ENSP00000347730:p.Asp1062Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.D1062Y	p.D1062Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3322	+	Esophageal squamous(110;0.0834)		1062					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3184G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	6.809	0.518356	0.13005	.	.	ENSG00000198597	ENST00000355537	T	0.08807	3.05	5.74	5.74	0.90152	.	0.423425	0.27504	N	0.019062	T	0.09158	0.0226	N	0.14661	0.345	0.37559	D	0.919008	P;B	0.41131	0.739;0.371	B;B	0.42653	0.394;0.169	T	0.19353	-1.0308	10	0.72032	D	0.01	-27.0579	19.9212	0.97085	0.0:0.0:1.0:0.0	.	1062;1062	A7E228;O15090	.;ZN536_HUMAN	Y	1062	ENSP00000347730:D1062Y	ENSP00000347730:D1062Y	D	+	1	0	ZNF536	35731550	1.000000	0.71417	0.899000	0.35326	0.006000	0.05464	7.149000	0.77396	2.697000	0.92050	0.655000	0.94253	GAC		PASS	0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	104	7	104	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32968458	32968458	+	Silent	SNP	G	G	C	rs369112109		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:32968458G>C	ENST00000342179.5	+	17	1943	c.1728G>C	c.(1726-1728)gcG>gcC	p.A576A	DPY19L3_ENST00000586987.1_Silent_p.A576A|DPY19L3_ENST00000392250.2_Silent_p.A576A	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	576						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A576A(3)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGTGTTTGCGGGAAGCATGC	0.488																																						uc002ntg.2																			3	Substitution - coding silent(3)		lung(1)|endometrium(1)|kidney(1)	ovary(4)	4						c.(1726-1728)GCG>GCC		dpy-19-like 3							111.0	100.0	104.0					19																	32968458		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32968458G>C		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1728G>C	19.37:g.32968458G>C						DPY19L3_uc002nth.1_Silent_p.A576A|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_5'UTR	p.A576A	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			17	1904	+	Esophageal squamous(110;0.162)		576					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1728G>C	CCDS12422.1																																																																																				PASS	0.488	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		83	29	83	29	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33119701	33119701	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:33119701G>A	ENST00000306065.4	-	14	1422	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	422					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.H422Y(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCTTTATCATGGTCCTCTTGG	0.478																																						uc002ntn.1																			1	Substitution - Missense(1)	p.H422H(1)	lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1264-1266)CAT>TAT		ankyrin repeat domain 27 (VPS9 domain)							241.0	197.0	212.0					19																	33119701		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33119701G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1264C>T	19.37:g.33119701G>A	ENSP00000304292:p.His422Tyr						p.H422Y	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			14	1420	-	Esophageal squamous(110;0.137)		422			ANK 1.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1264C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	4.531	0.098553	0.08681	.	.	ENSG00000105186	ENST00000306065	T	0.62105	0.05	4.99	1.55	0.23275	Ankyrin repeat-containing domain (2);	0.664334	0.14335	N	0.326099	T	0.37598	0.1009	N	0.11064	0.09	0.34716	D	0.728255	B	0.29378	0.243	B	0.32090	0.14	T	0.38585	-0.9654	10	0.62326	D	0.03	1.3097	2.1283	0.03744	0.1634:0.1119:0.4686:0.2562	.	422	Q96NW4	ANR27_HUMAN	Y	422	ENSP00000304292:H422Y	ENSP00000304292:H422Y	H	-	1	0	ANKRD27	37811541	0.994000	0.37717	0.102000	0.21198	0.062000	0.15995	2.001000	0.40825	0.212000	0.20703	0.650000	0.86243	CAT		PASS	0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		28	161	28	161	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33183180	33183180	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:33183180C>A	ENST00000397061.3	+	1	314	c.314C>A	c.(313-315)cCc>cAc	p.P105H	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	105	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.P105H(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CCGTCGCTGCCCGACACCGAT	0.721																																						uc010edf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CCC>CAC		nudix (nucleoside diphosphate linked moiety							20.0	25.0	23.0					19																	33183180		2106	4215	6321	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183180C>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.314C>A	19.37:g.33183180C>A	ENSP00000380251:p.Pro105His						p.P105H	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			1	314	+	Esophageal squamous(110;0.137)		105			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.314C>A	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987926	0.53934	.	.	ENSG00000213965	ENST00000397061	T	0.47869	0.83	3.84	1.64	0.23874	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.467249	0.21443	U	0.074447	T	0.33904	0.0879	L	0.50333	1.59	0.22787	N	0.998735	B	0.22414	0.069	B	0.26770	0.073	T	0.13469	-1.0508	10	0.14252	T	0.57	-0.1511	4.3293	0.11055	0.2046:0.5997:0.0:0.1957	.	105	A8MXV4	NUD19_HUMAN	H	105	ENSP00000380251:P105H	ENSP00000380251:P105H	P	+	2	0	NUDT19	37875020	0.030000	0.19436	0.009000	0.14445	0.019000	0.09904	1.130000	0.31393	0.878000	0.35920	0.313000	0.20887	CCC		PASS	0.721	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		50	20	50	20	---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35250052	35250052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:35250052G>A	ENST00000329285.8	-	4	2027	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	552					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.Q552*(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTCATGTGCTGAGTTAAAGCA	0.413																																						uc010edn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1654-1656)CAG>TAG		zinc finger protein 599							134.0	125.0	128.0					19																	35250052		2203	4300	6503	SO:0001587	stop_gained	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250052G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1654C>T	19.37:g.35250052G>A	ENSP00000333802:p.Gln552*					ZNF599_uc010edm.1_Nonsense_Mutation_p.Q515*	p.Q552*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	2042	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		552			C2H2-type 13.		Q569K0|Q5PRG1	Nonsense_Mutation	SNP	ENST00000329285.8	37	c.1654C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	37	6.036623	0.97226	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	.	.	.	2.44	-0.0578	0.13800	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	4.4282	0.11515	0.0:0.2548:0.4849:0.2603	.	.	.	.	X	551;552	.	ENSP00000333802:Q552X	Q	-	1	0	ZNF599	39941892	0.000000	0.05858	0.908000	0.35775	0.806000	0.45545	-1.666000	0.01963	0.061000	0.16311	0.491000	0.48974	CAG		PASS	0.413	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		99	179	99	179	---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35849879	35849879	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:35849879C>A	ENST00000327809.4	+	2	288	c.87C>A	c.(85-87)ctC>ctA	p.L29L	FFAR3_ENST00000594310.1_Silent_p.L29L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	29					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGGGCTCCCCCTCAACC	0.647																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(85-87)CTC>CTA		free fatty acid receptor 3							88.0	82.0	84.0					19																	35849879		2199	4292	6491	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849879C>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.87C>A	19.37:g.35849879C>A						FFAR3_uc010xsu.1_RNA	p.L29L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	162	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		29			Helical; Name=1; (Potential).		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.87C>A	CCDS12459.1																																																																																				PASS	0.647	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		27	122	27	122	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36273344	36273344	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:36273344G>T	ENST00000007510.4	+	13	1299	c.1155G>T	c.(1153-1155)gtG>gtT	p.V385V	ARHGAP33_ENST00000314737.5_Silent_p.V385V|ARHGAP33_ENST00000378944.5_Silent_p.V249V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	385	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.V385V(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCACAGCGTGTCCTCCCTCT	0.582																																						uc002obr.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1153-1155)GTG>GTT		sorting nexin 26							107.0	91.0	97.0					19																	36273344		2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36273344G>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1155G>T	19.37:g.36273344G>T						ARHGAP33_uc002obs.1_Silent_p.V385V|ARHGAP33_uc002obt.1_Silent_p.V249V|ARHGAP33_uc010eel.2_5'UTR|ARHGAP33_uc002obv.1_5'Flank	p.V385V	NM_052948	NP_443180	O14559	RHG33_HUMAN			13	1240	+			385			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1155G>T																																																																																					PASS	0.582	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		85	26	85	26	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36279116	36279116	+	Missense_Mutation	SNP	C	C	T	rs202034847		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:36279116C>T	ENST00000007510.4	+	21	3793	c.3649C>T	c.(3649-3651)Cgt>Tgt	p.R1217C	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1056C|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1053C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1217					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.R1056C(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGGACCCCGTACCCCTCA	0.706																																						uc002obs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(3166-3168)CGT>TGT		sorting nexin 26							13.0	19.0	17.0					19																	36279116		2143	4180	6323	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36279116C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3649C>T	19.37:g.36279116C>T	ENSP00000007510:p.Arg1217Cys					ARHGAP33_uc002obt.1_Missense_Mutation_p.R1053C|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R805C	p.R1056C	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3251	+			1217					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3166C>T		.	.	.	.	.	.	.	.	.	.	c	7.042	0.562732	0.13498	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.15372	2.93;2.43;2.84	4.41	1.98	0.26296	.	0.354917	0.20023	N	0.100875	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.21484	-1.0244	10	0.66056	D	0.02	.	4.1037	0.10026	0.1656:0.5804:0.1609:0.0931	.	1053;1056	O14559-10;O14559-11	.;.	C	1217;1056;1053	ENSP00000007510:R1217C;ENSP00000320038:R1056C;ENSP00000368227:R1053C	ENSP00000007510:R1217C	R	+	1	0	ARHGAP33	40970956	0.001000	0.12720	0.233000	0.24025	0.493000	0.33554	0.830000	0.27462	0.937000	0.37394	0.401000	0.26515	CGT		PASS	0.706	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		14	64	14	64	---	---	---	---
ZNF345	25850	broad.mit.edu	37	19	37368786	37368786	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:37368786A>C	ENST00000529555.1	+	2	1842	c.1054A>C	c.(1054-1056)Agt>Cgt	p.S352R	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.S352R|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.S352R			Q14585	ZN345_HUMAN	zinc finger protein 345	352					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S352R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGACCTTTAGTAGTGGTTC	0.403																																						uc002oex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)AGT>CGT		zinc finger protein 345							77.0	77.0	77.0					19																	37368786		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368786A>C	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1054A>C	19.37:g.37368786A>C	ENSP00000431202:p.Ser352Arg					ZNF345_uc002oey.3_Missense_Mutation_p.S352R|ZNF345_uc002oez.2_Intron	p.S352R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1432	+	Esophageal squamous(110;0.183)		352			C2H2-type 11.			Missense_Mutation	SNP	ENST00000529555.1	37	c.1054A>C	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	3.115	-0.181723	0.06340	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.36520	1.25;1.25	3.8	0.0175	0.14113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25531	0.0621	N	0.16478	0.41	0.09310	N	1	P	0.51057	0.941	P	0.50617	0.646	T	0.09885	-1.0654	9	0.44086	T	0.13	.	2.5038	0.04640	0.4408:0.0:0.2565:0.3027	.	352	Q14585	ZN345_HUMAN	R	352;352;116	ENSP00000431216:S352R;ENSP00000431202:S352R	ENSP00000442320:S116R	S	+	1	0	ZNF345	42060626	0.000000	0.05858	0.909000	0.35828	0.618000	0.37518	0.219000	0.17641	0.138000	0.18790	-0.464000	0.05259	AGT		PASS	0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			22	103	22	103	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37643697	37643697	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:37643697C>A	ENST00000356958.4	-	5	1362	c.1104G>T	c.(1102-1104)gaG>gaT	p.E368D	ZNF585A_ENST00000292841.5_Missense_Mutation_p.E313D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E313D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Splice_Site			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E313D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATAATCAACTCTGACCTGT	0.418																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1102-1104)GAG>GAT		zinc finger protein 585A							85.0	83.0	84.0					19																	37643697		2203	4297	6500	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643697C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1104G>T	19.37:g.37643697C>A	ENSP00000349440:p.Glu368Asp					ZNF585A_uc002ofm.1_Missense_Mutation_p.E313D|ZNF585A_uc002ofn.1_Missense_Mutation_p.E313D	p.E368D	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1335	-			368			C2H2-type 8.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1104G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.425|9.425	1.083989|1.083989	0.20309|0.20309	.|.	.|.	ENSG00000196967|ENSG00000196967	ENST00000355533|ENST00000356958;ENST00000292841;ENST00000392157	.|T;T;T	.|0.07567	.|3.18;3.18;3.18	3.02|3.02	-0.583|-0.583	0.11706|0.11706	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.205916	.|0.24195	.|N	.|0.040661	.|T	.|0.10809	.|0.0264	.|.	.|.	.|.	0.26597|0.26597	N|N	0.973094|0.973094	.|D	.|0.71674	.|0.998	.|D	.|0.64321	.|0.924	.|T	.|0.24870	.|-1.0148	.|9	.|0.13853	.|T	.|0.58	.|.	3.8682|3.8682	0.09025|0.09025	0.0:0.3393:0.4018:0.2589|0.0:0.3393:0.4018:0.2589	.|.	.|368	.|Q6P3V2	.|Z585A_HUMAN	.|D	-1|368;313;313	.|ENSP00000349440:E368D;ENSP00000292841:E313D;ENSP00000375998:E313D	.|ENSP00000292841:E313D	.|E	-|-	.|3	.|2	ZNF585A|ZNF585A	42335537|42335537	0.000000|0.000000	0.05858|0.05858	0.508000|0.508000	0.27688|0.27688	0.961000|0.961000	0.63080|0.63080	-4.901000|-4.901000	0.00172|0.00172	0.104000|0.104000	0.17725|0.17725	0.561000|0.561000	0.74099|0.74099	.|GAG		PASS	0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		7	204	7	204	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38912755	38912755	+	Missense_Mutation	SNP	C	C	T	rs376854073		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:38912755C>T	ENST00000587738.1	-	2	132	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	RASGRP4_ENST00000426920.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R21Q|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R21Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R21Q			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R21Q(1)|p.R21L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCGGCCTCGCCCTCCTAT	0.617																																						uc002oir.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|lung(1)|skin(1)	3						c.(61-63)CGA>CAA		RAS guanyl releasing protein 4 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3903		0,1,1951	36.0	44.0	41.0		62,62,62,62,62,62,62	1.9	0.7	19		41	0,8268		0,0,4134	no	missense,missense,missense,missense,missense,missense,missense	RASGRP4	NM_001146202.1,NM_001146203.1,NM_001146204.1,NM_001146205.1,NM_001146206.1,NM_001146207.1,NM_170604.2	43,43,43,43,43,43,43	0,1,6085	TT,TC,CC		0.0,0.0256,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/660,21/582,21/605,21/640,21/485,21/577,21/674	38912755	1,12171	1952	4134	6086	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912755C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.62G>A	19.37:g.38912755C>T	ENSP00000465772:p.Arg21Gln					RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R21Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R21Q	p.R21Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	276	-	all_cancers(60;4.21e-06)		21					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.62G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309642	0.23821	2.56E-4	0.0	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.06	1.85	0.25348	Ras guanine nucleotide exchange factor, domain (1);	0.770535	0.11194	N	0.589583	T	0.22704	0.0548	M	0.64997	1.995	0.09310	N	1	B;B;P;B;P;B;B	0.38195	0.024;0.013;0.622;0.07;0.552;0.139;0.07	B;B;B;B;B;B;B	0.22753	0.002;0.001;0.041;0.003;0.026;0.018;0.003	T	0.26224	-1.0109	10	0.87932	D	0	-11.0923	4.1614	0.10285	0.1864:0.6248:0.0:0.1888	.	21;21;21;21;21;21;21	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	Q	21	ENSP00000411878:R21Q;ENSP00000293062:R21Q;ENSP00000445966:R21Q;ENSP00000416463:R21Q	ENSP00000293062:R21Q	R	-	2	0	RASGRP4	43604595	0.029000	0.19370	0.748000	0.31131	0.122000	0.20287	0.293000	0.19029	0.468000	0.27243	0.455000	0.32223	CGA		PASS	0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		31	32	31	32	---	---	---	---
SARS2	54938	broad.mit.edu	37	19	39412889	39412889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:39412889C>A	ENST00000221431.6	-	3	541	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	CTC-360G5.8_ENST00000599996.1_Nonstop_Mutation_p.*197L|SARS2_ENST00000448145.2_Nonsense_Mutation_p.E128*|SARS2_ENST00000430193.3_Nonsense_Mutation_p.E128*|SARS2_ENST00000594171.1_5'UTR|SARS2_ENST00000600042.1_Nonsense_Mutation_p.E128*	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	128					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.E128*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCTGCACTTCACCACTGTCC	0.488																																						uc002oka.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(382-384)GAA>TAA		seryl-tRNA synthetase 2 isoform b precursor							130.0	106.0	114.0					19																	39412889		2203	4300	6503	SO:0001587	stop_gained	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39412889C>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.382G>T	19.37:g.39412889C>A	ENSP00000221431:p.Glu128*					SARS2_uc002ojz.2_5'UTR|SARS2_uc010xup.1_Nonsense_Mutation_p.E128*|SARS2_uc002okb.2_Nonsense_Mutation_p.E128*|SARS2_uc010xuq.1_Nonsense_Mutation_p.E128*|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Nonsense_Mutation_p.E128*	p.E128*	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	542	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		128					A6NHW7|B4DE10|Q9BVP3	Nonsense_Mutation	SNP	ENST00000221431.6	37	c.382G>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853664	0.51270	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145;ENST00000455102	.	.	.	3.92	1.71	0.24356	.	0.749959	0.12176	N	0.492536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.3406	0.43875	0.0:0.4127:0.5873:0.0	.	.	.	.	X	128	.	ENSP00000221431:E128X	E	-	1	0	FBXO17	44104729	0.040000	0.19996	0.309000	0.25155	0.059000	0.15707	0.475000	0.22164	0.600000	0.29862	-0.502000	0.04539	GAA		PASS	0.488	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		32	144	32	144	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40395822	40395822	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:40395822C>G	ENST00000221347.6	-	15	7582	c.7575G>C	c.(7573-7575)caG>caC	p.Q2525H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2525	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.Q2525H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCACTGTCTCTGCTCCAGCC	0.652																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(7573-7575)CAG>CAC		Fc fragment of IgG binding protein precursor							10.0	11.0	11.0					19																	40395822		2051	3578	5629	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395822C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7575G>C	19.37:g.40395822C>G	ENSP00000221347:p.Gln2525His						p.Q2525H	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7583	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2525			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7575G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314898	0.40996	.	.	ENSG00000090920	ENST00000221347	T	0.58506	0.33	2.05	-0.171	0.13331	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.56156	0.1966	L	0.43598	1.365	0.21105	N	0.999788	B	0.33549	0.417	P	0.47251	0.542	T	0.54768	-0.8244	9	0.39692	T	0.17	.	7.312	0.26479	0.0:0.7451:0.0:0.2549	.	2525	Q9Y6R7	FCGBP_HUMAN	H	2525	ENSP00000221347:Q2525H	ENSP00000221347:Q2525H	Q	-	3	2	FCGBP	45087662	0.000000	0.05858	0.824000	0.32777	0.836000	0.47400	-1.870000	0.01641	0.026000	0.15269	-0.708000	0.03648	CAG		PASS	0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		20	282	20	282	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41626291	41626291	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:41626291G>C	ENST00000331105.2	+	4	446	c.374G>C	c.(373-375)aGa>aCa	p.R125T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	125					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R125T(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AAGGTCCTGAGACAGTTCTCT	0.582																																						uc002opu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)AGA>ACA		cytochrome P450, family 2, subfamily F,							106.0	102.0	103.0					19																	41626291		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626291G>C	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.374G>C	19.37:g.41626291G>C	ENSP00000333534:p.Arg125Thr					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R125T|CYP2F1_uc002opv.1_RNA	p.R125T	NM_000774	NP_000765	P24903	CP2F1_HUMAN			4	430	+			125					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.374G>C	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267953	0.40095	.	.	ENSG00000197446	ENST00000331105	T	0.42131	0.98	4.25	3.21	0.36854	.	0.000000	0.85682	U	0.000000	T	0.74207	0.3686	H	0.98769	4.325	0.43207	D	0.995068	D;D	0.71674	0.998;0.995	D;P	0.65140	0.932;0.885	T	0.81046	-0.1110	10	0.87932	D	0	.	9.8986	0.41334	0.1026:0.0:0.8974:0.0	.	125;125	Q32MN5;P24903	.;CP2F1_HUMAN	T	125	ENSP00000333534:R125T	ENSP00000333534:R125T	R	+	2	0	CYP2F1	46318131	0.967000	0.33354	0.004000	0.12327	0.043000	0.13939	5.870000	0.69620	1.039000	0.40074	0.562000	0.76482	AGA		PASS	0.582	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			45	129	45	129	---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44571244	44571244	+	Silent	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:44571244C>G	ENST00000434772.3	+	5	1518	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	ZNF223_ENST00000591793.1_Silent_p.L531L	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	421					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.L421L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATAAGAGACTCCATTGCCGAA	0.418																																						uc002oyf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1261-1263)CTC>CTG		zinc finger protein 223							108.0	109.0	109.0					19																	44571244		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571244C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1263C>G	19.37:g.44571244C>G						ZNF284_uc010ejd.2_RNA	p.L421L	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1516	+		Prostate(69;0.0352)	421			C2H2-type 9.		Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.1263C>G	CCDS12635.1																																																																																				PASS	0.418	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			32	141	32	141	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47492887	47492887	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:47492887C>T	ENST00000404338.3	+	4	3991	c.3991C>T	c.(3991-3993)Ccc>Tcc	p.P1331S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1331	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.P1331S(2)									ACTGCCTGACCCCCTGGTCCC	0.542																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3991-3993)CCC>TCC		glucocorticoid receptor DNA binding factor 1							153.0	153.0	153.0					19																	47492887		1993	4159	6152	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47492887C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3991C>T	19.37:g.47492887C>T	ENSP00000385720:p.Pro1331Ser						p.P1331S	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	4	3991	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1331			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3991C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983308	0.93044	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.55930	0.49	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.78049	2.395	0.80722	D	1	D	0.59767	0.986	P	0.49887	0.625	T	0.68926	-0.5280	10	0.51188	T	0.08	-23.3862	18.1907	0.89806	0.0:1.0:0.0:0.0	.	1331	Q9NRY4-2	.	S	1331	ENSP00000385720:P1331S	ENSP00000324820:P1331S	P	+	1	0	ARHGAP35	52184727	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.337000	0.79256	2.604000	0.88044	0.655000	0.94253	CCC		PASS	0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		35	170	35	170	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47879256	47879256	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:47879256G>A	ENST00000328771.4	+	11	2732	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	795					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.E795K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGAGCCGCGAGCAGCTGGC	0.672																																						uc010xyn.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(2383-2385)GAG>AAG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							33.0	35.0	35.0					19																	47879256		2191	4273	6464	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879256G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2383G>A	19.37:g.47879256G>A	ENSP00000331907:p.Glu795Lys					DHX34_uc010xyo.1_5'Flank	p.E795K	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	11	2724	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	795					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.2383G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320159	0.05386	.	.	ENSG00000134815	ENST00000328771	T	0.02446	4.29	5.35	5.35	0.76521	Domain of unknown function DUF1605 (1);	0.587016	0.17269	N	0.180467	T	0.01835	0.0058	N	0.04880	-0.145	0.24129	N	0.995778	B	0.15719	0.014	B	0.12837	0.008	T	0.47446	-0.9117	10	0.09843	T	0.71	-18.52	13.561	0.61788	0.0:0.1566:0.8434:0.0	.	795	Q14147	DHX34_HUMAN	K	795	ENSP00000331907:E795K	ENSP00000331907:E795K	E	+	1	0	DHX34	52571054	0.104000	0.21937	0.651000	0.29564	0.159000	0.22180	2.266000	0.43320	2.517000	0.84864	0.655000	0.94253	GAG		PASS	0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		52	80	52	80	---	---	---	---
SULT2A1	6822	broad.mit.edu	37	19	48387013	48387013	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:48387013G>A	ENST00000222002.3	-	2	305	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	56					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.L56L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	GAGTGCATCAGGCAGAGAATC	0.488																																						uc002phr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(166-168)CTG>TTG		bile-salt sulfotransferase 2A1							67.0	64.0	65.0					19																	48387013		2203	4300	6503	SO:0001819	synonymous_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48387013G>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.166C>T	19.37:g.48387013G>A							p.L56L	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	306	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	56						Silent	SNP	ENST00000222002.3	37	c.166C>T	CCDS12707.1																																																																																				PASS	0.488	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		23	23	23	23	---	---	---	---
RASIP1	54922	broad.mit.edu	37	19	49242460	49242460	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:49242460C>A	ENST00000222145.4	-	3	784	c.580G>T	c.(580-582)Ggc>Tgc	p.G194C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.G194C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTCTCGCCGGGGCCACCG	0.766																																						uc002pki.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(580-582)GGC>TGC		Ras-interacting protein 1							1.0	1.0	1.0					19																	49242460		903	1972	2875	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49242460C>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.580G>T	19.37:g.49242460C>A	ENSP00000222145:p.Gly194Cys						p.G194C	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	3	777	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	194			Ras-associating.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.580G>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343181	0.41498	.	.	ENSG00000105538	ENST00000222145	T	0.08008	3.14	3.58	2.44	0.29823	Ras-association (3);	0.670270	0.12081	U	0.501316	T	0.14874	0.0359	L	0.29908	0.895	0.32673	N	0.516553	D	0.69078	0.997	P	0.61874	0.895	T	0.17930	-1.0353	10	0.72032	D	0.01	-3.2383	10.5318	0.44981	0.1923:0.8077:0.0:0.0	.	194	Q5U651	RAIN_HUMAN	C	194	ENSP00000222145:G194C	ENSP00000222145:G194C	G	-	1	0	RASIP1	53934272	0.015000	0.18098	0.821000	0.32701	0.139000	0.21198	1.826000	0.39092	1.733000	0.51620	0.462000	0.41574	GGC		PASS	0.766	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		4	0	4	0	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49939884	49939884	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:49939884G>C	ENST00000221485.3	-	2	408	c.237C>G	c.(235-237)atC>atG	p.I79M	SLC17A7_ENST00000543531.1_Missense_Mutation_p.I67M|SLC17A7_ENST00000600601.1_Missense_Mutation_p.I12M	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	79					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.I79M(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGTTGCAGCGGATGCCAAAGC	0.642																																						uc002pnp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(235-237)ATC>ATG		solute carrier family 17, member 7							103.0	85.0	91.0					19																	49939884		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49939884G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.237C>G	19.37:g.49939884G>C	ENSP00000221485:p.Ile79Met					SLC17A7_uc002pnq.1_Missense_Mutation_p.I12M	p.I79M	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	2	409	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	79			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.237C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879273	0.33162	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59083	0.29;0.29	4.05	1.92	0.25849	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.49305	D	0.000156	T	0.33235	0.0856	N	0.05306	-0.075	0.53688	D	0.999973	B;B	0.28233	0.204;0.204	B;B	0.37731	0.257;0.257	T	0.07347	-1.0777	10	0.07325	T	0.83	.	8.5552	0.33476	0.1953:0.0:0.8047:0.0	.	12;79	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	M	79;67	ENSP00000221485:I79M;ENSP00000441767:I67M	ENSP00000221485:I79M	I	-	3	3	SLC17A7	54631696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	0.690000	0.31570	0.561000	0.74099	ATC		PASS	0.642	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			3	142	3	142	---	---	---	---
NR1H2	7376	broad.mit.edu	37	19	50885782	50885782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:50885782G>T	ENST00000253727.5	+	10	1541	c.1306G>T	c.(1306-1308)Gag>Tag	p.E436*	POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000598168.1_Nonsense_Mutation_p.E406*|POLD1_ENST00000599857.1_5'Flank|NR1H2_ENST00000542413.1_Nonsense_Mutation_p.E167*|NR1H2_ENST00000599105.1_Nonsense_Mutation_p.E392*|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.E436*|NR1H2_ENST00000411902.2_Nonsense_Mutation_p.E339*	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	436	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E436*(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGTGCACTCGGAGCAGGTCTT	0.667																																						uc010enw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1309-1311)GAG>TAG		nuclear receptor subfamily 1, group H, member 2							20.0	26.0	24.0					19																	50885782		2121	4249	6370	SO:0001587	stop_gained	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50885782G>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1306G>T	19.37:g.50885782G>T	ENSP00000253727:p.Glu436*					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.E392*|NR1H2_uc002psa.3_Nonsense_Mutation_p.E339*|POLD1_uc002psb.3_5'Flank|POLD1_uc002psc.3_5'Flank|POLD1_uc010enx.2_5'Flank	p.E437*	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	11	1585	+		all_neural(266;0.057)	436			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Nonsense_Mutation	SNP	ENST00000253727.5	37	c.1309G>T	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	g	39	7.572024	0.98365	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	.	.	.	4.16	4.16	0.48862	.	0.197705	0.32518	N	0.005995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.7664	0.78128	0.0:0.0:1.0:0.0	.	.	.	.	X	167;436;339;434	.	ENSP00000253727:E436X	E	+	1	0	NR1H2	55577594	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.128000	0.94424	2.322000	0.78497	0.556000	0.70494	GAG		PASS	0.667	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			39	8	39	8	---	---	---	---
ASPDH	554235	broad.mit.edu	37	19	51015807	51015807	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:51015807C>T	ENST00000389208.4	-	5	524	c.463G>A	c.(463-465)Gat>Aat	p.D155N	ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.D50N|JOSD2_ENST00000601423.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	155					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)	p.D155N(1)|p.D50N(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CGGAAGCCATCGGGGTGTGTG	0.672																																						uc010enz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(463-465)GAT>AAT		aspartate dehydrogenase isoform 1							17.0	22.0	20.0					19																	51015807		2201	4299	6500	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015807C>T		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.463G>A	19.37:g.51015807C>T	ENSP00000373860:p.Asp155Asn					JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.D50N	p.D155N	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN			5	525	-			155					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.463G>A	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624274	0.28889	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.43688	0.94;0.98	3.9	2.75	0.32379	.	0.182670	0.37483	N	0.002063	T	0.30103	0.0754	N	0.25647	0.755	0.20873	N	0.999837	P;D	0.60575	0.804;0.988	B;P	0.45639	0.062;0.488	T	0.10683	-1.0619	10	0.39692	T	0.17	-13.1968	8.8569	0.35234	0.0:0.769:0.231:0.0	.	155;50	A6ND91;A6ND91-2	ASPD_HUMAN;.	N	50;155	ENSP00000366114:D50N;ENSP00000373860:D155N	ENSP00000366114:D50N	D	-	1	0	ASPDH	55707619	0.000000	0.05858	0.911000	0.35937	0.990000	0.78478	0.117000	0.15583	1.908000	0.55244	0.561000	0.74099	GAT		PASS	0.672	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		4	12	4	12	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53611991	53611991	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:53611991C>A	ENST00000500065.4	-	4	1640	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	ZNF415_ENST00000448501.1_Missense_Mutation_p.G484V|ZNF415_ENST00000601493.1_Missense_Mutation_p.G206V|ZNF415_ENST00000243643.4_Missense_Mutation_p.G436V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.G484V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.G423V|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.G448V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G436V(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGGTTTCTCTCCAGTATGAAC	0.413																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1450-1452)GGA>GTA		RecName: Full=Zinc finger protein 415;							140.0	132.0	135.0					19																	53611991		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611991C>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1307G>T	19.37:g.53611991C>A	ENSP00000439435:p.Gly436Val					ZNF415_uc002qat.2_Missense_Mutation_p.G448V|ZNF415_uc002qaw.2_Missense_Mutation_p.G436V|ZNF415_uc010yds.1_Missense_Mutation_p.G436V|ZNF415_uc010ydt.1_Missense_Mutation_p.G436V|ZNF415_uc002qau.2_Missense_Mutation_p.G423V|ZNF415_uc002qav.2_Missense_Mutation_p.G448V|ZNF415_uc002qba.2_Missense_Mutation_p.G206V|ZNF415_uc002qay.2_Missense_Mutation_p.G423V|ZNF415_uc002qaz.2_Missense_Mutation_p.G484V	p.G484V	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1800	-			484					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1451G>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763662	0.69878	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74	2.61	1.5	0.22942	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	M	0.69358	2.11	0.50467	D	0.999876	D;D;D;D;D;D	0.89917	0.993;1.0;0.994;0.993;0.993;1.0	D;D;D;D;D;D	0.91635	0.929;0.998;0.957;0.929;0.929;0.999	T	0.05178	-1.0901	9	0.87932	D	0	.	9.4355	0.38637	0.2148:0.7852:0.0:0.0	.	436;484;484;436;423;448	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	436;436;484;448;484;423	ENSP00000243643:G436V;ENSP00000439435:G436V;ENSP00000396492:G484V;ENSP00000395055:G448V;ENSP00000388787:G484V;ENSP00000414601:G423V	ENSP00000243643:G436V	G	-	2	0	ZNF415	58303803	0.978000	0.34361	0.006000	0.13384	0.671000	0.39405	3.763000	0.55257	0.401000	0.25424	0.313000	0.20887	GGA		PASS	0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		50	171	50	171	---	---	---	---
PPP6R1	22870	broad.mit.edu	37	19	55752352	55752352	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:55752352G>A	ENST00000412770.2	-	10	1823	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	PPP6R1_ENST00000587283.1_Silent_p.S419S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	419					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.S419S(1)		breast(1)	1						TCTCAGGGCTGCTGTCAGGAG	0.577																																						uc002qjw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1255-1257)AGC>AGT		SAPS domain family, member 1							53.0	59.0	57.0					19																	55752352		2091	4224	6315	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55752352G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1257C>T	19.37:g.55752352G>A						SAPS1_uc002qjv.2_Silent_p.S481S	p.S419S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	10	1499	-		Renal(1328;0.245)	419					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.1257C>T	CCDS46186.1																																																																																				PASS	0.577	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		4	8	4	8	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243511	56243511	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:56243511C>T	ENST00000332836.2	-	2	1713	c.1686G>A	c.(1684-1686)atG>atA	p.M562I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	562						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.M562I(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAAGAAATTCATCACTTTGG	0.343																																						uc002qly.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(1684-1686)ATG>ATA		NLR family, pyrin domain containing 9							60.0	61.0	61.0					19																	56243511		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243511C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1686G>A	19.37:g.56243511C>T	ENSP00000331857:p.Met562Ile						p.M562I	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1714	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	562					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1686G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	6.513	0.462854	0.12402	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52526	0.66	2.23	2.23	0.28157	.	.	.	.	.	T	0.46210	0.1381	L	0.60845	1.875	0.09310	N	1	P	0.39964	0.697	B	0.43194	0.411	T	0.36261	-0.9755	9	0.51188	T	0.08	.	8.1026	0.30865	0.0:1.0:0.0:0.0	.	562	Q7RTR0	NALP9_HUMAN	I	562	ENSP00000331857:M562I	ENSP00000331857:M562I	M	-	3	0	NLRP9	60935323	0.084000	0.21492	0.014000	0.15608	0.003000	0.03518	1.115000	0.31209	1.588000	0.49971	0.644000	0.83932	ATG		PASS	0.343	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		24	70	24	70	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57059206	57059206	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:57059206C>T	ENST00000301318.3	+	4	529	c.458C>T	c.(457-459)tCc>tTc	p.S153F	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.S153F	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	153	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S153F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATGTGATCTCCTCGTTGGAA	0.512																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)TCC>TTC		zinc finger protein 28							202.0	187.0	193.0					19																	57059206		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57059206C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.458C>T	19.37:g.57059206C>T	ENSP00000301318:p.Ser153Phe					ZFP28_uc002qni.2_Missense_Mutation_p.S153F|uc002qnk.1_Intron	p.S153F	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	4	529	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	153			KRAB 1.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.458C>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932168	0.52866	.	.	ENSG00000196867	ENST00000301318	T	0.00864	5.6	4.01	4.01	0.46588	Krueppel-associated box (3);	0.653507	0.12773	N	0.440349	T	0.03263	0.0095	L	0.46567	1.45	0.20074	N	0.999932	D;D	0.89917	0.966;1.0	P;D	0.91635	0.691;0.999	T	0.53351	-0.8451	10	0.30854	T	0.27	.	11.8165	0.52214	0.0:1.0:0.0:0.0	.	153;153	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	F	153	ENSP00000301318:S153F	ENSP00000301318:S153F	S	+	2	0	ZFP28	61751018	0.437000	0.25593	0.363000	0.25875	0.842000	0.47809	1.035000	0.30216	2.231000	0.72958	0.563000	0.77884	TCC		PASS	0.512	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		61	90	61	90	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420562	58420562	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr19:58420562G>A	ENST00000312026.5	-	3	1248	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	ZNF417_ENST00000536263.1_Missense_Mutation_p.R163C|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R361C	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	362					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.R362C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AACTTCTGACGAAAAGATTTC	0.428																																						uc002qqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)CGT>TGT		zinc finger protein 417							98.0	90.0	93.0					19																	58420562		2203	4288	6491	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420562G>A	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1084C>T	19.37:g.58420562G>A	ENSP00000311319:p.Arg362Cys					ZNF417_uc010yhm.1_Missense_Mutation_p.R319C|ZNF417_uc002qqr.2_Missense_Mutation_p.R361C	p.R362C	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1283	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	362			C2H2-type 6.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1084C>T	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	4.331	0.060804	0.08339	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.18502	2.21;2.21	2.21	-0.305	0.12784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31752	0.955	0.09310	N	0.999997	B;P	0.45283	0.001;0.855	B;B	0.38921	0.001;0.285	T	0.18524	-1.0334	9	0.51188	T	0.08	.	0.7803	0.01040	0.19:0.129:0.2036:0.4774	.	362;362	F5H0M9;Q8TAU3	.;ZN417_HUMAN	C	362;163	ENSP00000311319:R362C;ENSP00000442760:R163C	ENSP00000311319:R362C	R	-	1	0	ZNF417	63112374	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.444000	0.06854	-0.261000	0.09405	-0.864000	0.03007	CGT		PASS	0.428	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		36	175	36	175	---	---	---	---
DEFB128	245939	broad.mit.edu	37	20	168638	168638	+	Silent	SNP	T	T	C	rs372415102		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:168638T>C	ENST00000334391.4	-	2	228	c.171A>G	c.(169-171)gaA>gaG	p.E57E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	57					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.E57E(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTTTCTCTTCTTCATCATTAG	0.383																																						uc002wcz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(169-171)GAA>GAG		beta-defensin 128 precursor							355.0	324.0	334.0					20																	168638		2203	4300	6503	SO:0001819	synonymous_variant	245939				defense response to bacterium	extracellular region		g.chr20:168638T>C	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.171A>G	20.37:g.168638T>C							p.E57E	NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	171	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	57					B2RU29	Silent	SNP	ENST00000334391.4	37	c.171A>G	CCDS33430.1																																																																																				PASS	0.383	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		73	288	73	288	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918206	1918206	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:1918206A>T	ENST00000358771.4	+	8	1659	c.1507A>T	c.(1507-1509)Agg>Tgg	p.R503W	SIRPA_ENST00000400068.3_Missense_Mutation_p.R507W|SIRPA_ENST00000356025.3_Missense_Mutation_p.R503W	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	503				R -> K (in Ref. 7; CAA71944). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R503W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCAGGTCCCGAGGAAGTGAAT	0.627																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)AGG>TGG		signal-regulatory protein alpha precursor							65.0	69.0	68.0					20																	1918206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1918206A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1507A>T	20.37:g.1918206A>T	ENSP00000351621:p.Arg503Trp					SIRPA_uc010zps.1_Missense_Mutation_p.R483W|SIRPA_uc002wfr.2_Missense_Mutation_p.R503W|SIRPA_uc002wfs.2_Missense_Mutation_p.R503W|SIRPA_uc002wft.2_Missense_Mutation_p.R507W	p.R503W	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	9	1867	+			503	R -> K (in Ref. 7; CAA71944).		Cytoplasmic (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1507A>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284203	0.80803	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.18657	2.2;2.2;2.2	4.65	4.65	0.58169	.	0.000000	0.47455	D	0.000226	T	0.32941	0.0846	L	0.32530	0.975	0.34440	D	0.699522	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.992	T	0.46775	-0.9167	10	0.87932	D	0	.	10.3733	0.44066	1.0:0.0:0.0:0.0	.	483;507;503	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	W	507;503;503	ENSP00000382941:R507W;ENSP00000348307:R503W;ENSP00000351621:R503W	ENSP00000348307:R503W	R	+	1	2	SIRPA	1866206	0.999000	0.42202	1.000000	0.80357	0.909000	0.53808	1.514000	0.35834	1.939000	0.56221	0.477000	0.44152	AGG		PASS	0.627	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		92	53	92	53	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6031567	6031567	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:6031567G>A	ENST00000378858.4	-	3	942	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	240					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R240W(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTCGTCAGCCGAGGCATCTTC	0.557																																						uc002wmo.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(718-720)CGG>TGG		leucine rich repeat neuronal 4 precursor							89.0	81.0	84.0					20																	6031567		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031567G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.718C>T	20.37:g.6031567G>A	ENSP00000368135:p.Arg240Trp					LRRN4_uc002wmp.2_Missense_Mutation_p.R240W	p.R240W	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			3	942	-			240			Extracellular (Potential).|LRR 8.		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.718C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440149	0.63067	.	.	ENSG00000125872	ENST00000378858	T	0.58652	0.32	5.68	3.4	0.38934	.	0.462660	0.21634	N	0.071421	T	0.76821	0.4041	M	0.87180	2.865	0.31220	N	0.697621	D;P	0.89917	1.0;0.88	D;B	0.65773	0.938;0.122	T	0.80274	-0.1451	10	0.87932	D	0	-10.6573	13.4941	0.61414	0.0:0.0:0.4122:0.5878	.	240;240	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	W	240	ENSP00000368135:R240W	ENSP00000368135:R240W	R	-	1	2	LRRN4	5979567	0.098000	0.21812	0.998000	0.56505	0.657000	0.38888	1.278000	0.33179	0.429000	0.26202	-0.500000	0.04577	CGG		PASS	0.557	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		19	77	19	77	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13839949	13839949	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:13839949T>A	ENST00000284951.5	-	18	1851	c.1777A>T	c.(1777-1779)Aat>Tat	p.N593Y	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	593						integral component of membrane (GO:0016021)		p.N593Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TAAGCCAGATTGAACATGGCT	0.413																																						uc010gcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1777-1779)AAT>TAT		sel-1 suppressor of lin-12-like 2 precursor							173.0	162.0	166.0					20																	13839949		2050	4192	6242	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13839949T>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1777A>T	20.37:g.13839949T>A	ENSP00000284951:p.Asn593Tyr					SEL1L2_uc002woq.3_Missense_Mutation_p.N454Y|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	p.N593Y	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1859	-			593			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1777A>T		.	.	.	.	.	.	.	.	.	.	T	22.0	4.230490	0.79688	.	.	ENSG00000101251	ENST00000284951	T	0.57752	0.38	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.204701	0.35646	N	0.003061	T	0.69160	0.3080	M	0.64630	1.985	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.71948	-0.4438	10	0.66056	D	0.02	-17.0639	13.5549	0.61754	0.0:0.0:0.0:1.0	.	593	Q5TEA6	SE1L2_HUMAN	Y	593	ENSP00000284951:N593Y	ENSP00000284951:N593Y	N	-	1	0	SEL1L2	13787949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.318000	0.79029	2.100000	0.63781	0.533000	0.62120	AAT		PASS	0.413	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		44	49	44	49	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:14307545C>T	ENST00000378053.3	-	2	864	c.608G>A	c.(607-609)cGc>cAc	p.R203H	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R203H|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|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.R203H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438																																						uc002wov.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(607-609)CGC>CAC		fibronectin leucine rich transmembrane protein 3							74.0	74.0	74.0					20																	14307545		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307545C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.608G>A	20.37:g.14307545C>T	ENSP00000367292:p.Arg203His					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R203H	p.R203H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1075	-		Colorectal(1;0.0464)	203			Extracellular (Potential).|LRR 7.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.608G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431110	0.62844	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.56776	0.44;0.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60063	-0.7336	10	0.39692	T	0.17	-8.2668	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q9NZU0	FLRT3_HUMAN	H	203	ENSP00000367292:R203H;ENSP00000339912:R203H	ENSP00000339912:R203H	R	-	2	0	FLRT3	14255545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		22	128	22	128	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581499	17581499	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:17581499C>T	ENST00000246069.7	+	2	466	c.120C>T	c.(118-120)ctC>ctT	p.L40L	DSTN_ENST00000474024.1_Silent_p.L23L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	40	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.L40L(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTTGTCTCAGTGCAGACA	0.378																																						uc002wpr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(118-120)CTC>CTT		destrin isoform a							104.0	99.0	101.0					20																	17581499		2203	4300	6503	SO:0001819	synonymous_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581499C>T	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.120C>T	20.37:g.17581499C>T						DSTN_uc002wpq.2_Silent_p.L23L|DSTN_uc010gck.2_Silent_p.L23L	p.L40L	NM_006870	NP_006861	P60981	DEST_HUMAN			2	375	+			40			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	c.120C>T	CCDS13127.1																																																																																				PASS	0.378	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		25	120	25	120	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345385	23345385	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:23345385C>G	ENST00000338121.5	+	2	442	c.365C>G	c.(364-366)tCa>tGa	p.S122*	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Nonsense_Mutation_p.S122*|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	122					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.S122*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTGGATTTATCAGAAACTTGT	0.423																																						uc010gdb.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(364-366)TCA>TGA		GDNF-inducible zinc finger protein 1							71.0	77.0	75.0					20																	23345385		2203	4300	6503	SO:0001587	stop_gained	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345385C>G	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.365C>G	20.37:g.23345385C>G	ENSP00000338290:p.Ser122*					GZF1_uc002wsy.2_Nonsense_Mutation_p.S122*|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Nonsense_Mutation_p.S122*	p.S122*	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			3	539	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		122					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Nonsense_Mutation	SNP	ENST00000338121.5	37	c.365C>G	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679092	0.88542	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	.	.	.	5.33	5.33	0.75918	.	0.127499	0.34879	N	0.003618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.0175	0.89246	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000338290:S122X	S	+	2	0	GZF1	23293385	0.993000	0.37304	0.989000	0.46669	0.898000	0.52572	3.071000	0.50041	2.517000	0.84864	0.650000	0.86243	TCA		PASS	0.423	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		16	92	16	92	---	---	---	---
BPIFB2	80341	broad.mit.edu	37	20	31606524	31606524	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:31606524G>A	ENST00000170150.3	+	9	946	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	251						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.E251K(1)									TGTGGGTACCGAGGGCTCCAT	0.637																																						uc002wyj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(751-753)GAG>AAG		bactericidal/permeability-increasing							103.0	101.0	102.0					20																	31606524		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606524G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.751G>A	20.37:g.31606524G>A	ENSP00000170150:p.Glu251Lys						p.E251K	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			9	945	+			251					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.751G>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	3.744	-0.053046	0.07362	.	.	ENSG00000078898	ENST00000170150	T	0.08370	3.1	5.22	-10.4	0.00318	.	2.745930	0.01007	N	0.003763	T	0.02649	0.0080	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28202	-1.0051	10	0.06891	T	0.86	7.9197	12.0514	0.53509	0.1416:0.3632:0.4952:0.0	.	251	Q8N4F0	BPIB2_HUMAN	K	251	ENSP00000170150:E251K	ENSP00000170150:E251K	E	+	1	0	BPIFB2	31070185	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.872000	0.01639	-3.367000	0.00178	-0.258000	0.10820	GAG		PASS	0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		9	182	9	182	---	---	---	---
C20orf144	128864	broad.mit.edu	37	20	32251450	32251450	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:32251450T>G	ENST00000375222.3	+	2	301	c.239T>G	c.(238-240)tTg>tGg	p.L80W	NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000246190.6_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	80								p.L80W(1)		lung(1)	1						GCACCCAGATTGCGCGGAGCG	0.731																																						uc002wzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)TTG>TGG		hypothetical protein LOC128864							6.0	8.0	7.0					20																	32251450		1883	3878	5761	SO:0001583	missense	128864							g.chr20:32251450T>G	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.239T>G	20.37:g.32251450T>G	ENSP00000364370:p.Leu80Trp					NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	p.L80W	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN			2	271	+			80					Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	c.239T>G	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859859	0.71834	.	.	ENSG00000149609	ENST00000375222	T	0.66099	-0.19	3.86	3.86	0.44501	.	0.194583	0.25302	N	0.031660	T	0.66127	0.2758	L	0.29908	0.895	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.55927	-0.8063	10	0.87932	D	0	-13.1008	9.2456	0.37523	0.0:0.0:0.0:1.0	.	80	Q9BQM9	CT144_HUMAN	W	80	ENSP00000364370:L80W	ENSP00000364370:L80W	L	+	2	0	C20orf144	31715111	0.036000	0.19791	0.094000	0.20943	0.004000	0.04260	0.478000	0.22212	1.750000	0.51863	0.374000	0.22700	TTG		PASS	0.731	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		3	29	3	29	---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32267691	32267691	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:32267691C>T	ENST00000343380.5	-	3	581	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	148	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D148N(1)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						ACGACACCGTCAGCCGAGTGG	0.597																																						uc002wzu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GAC>AAC		E2F transcription factor 1							102.0	93.0	96.0					20																	32267691		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32267691C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.442G>A	20.37:g.32267691C>T	ENSP00000345571:p.Asp148Asn						p.D148N	NM_005225	NP_005216	Q01094	E2F1_HUMAN			3	582	-			148			Potential.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.442G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962000	0.74016	.	.	ENSG00000101412	ENST00000343380	T	0.11930	2.73	4.61	4.61	0.57282	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.49455	1.56	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	T	0.02424	-1.1161	10	0.72032	D	0.01	0.317	16.7324	0.85438	0.0:1.0:0.0:0.0	.	148	Q01094	E2F1_HUMAN	N	148	ENSP00000345571:D148N	ENSP00000345571:D148N	D	-	1	0	E2F1	31731352	1.000000	0.71417	0.433000	0.26760	0.089000	0.18198	7.651000	0.83577	2.550000	0.86006	0.462000	0.41574	GAC		PASS	0.597	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			15	74	15	74	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36869797	36869797	+	Missense_Mutation	SNP	G	G	C	rs577168630		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:36869797G>C	ENST00000279024.4	-	3	1007	c.736C>G	c.(736-738)Cca>Gca	p.P246A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	246								p.P246A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(736-738)CCA>GCA		hypothetical protein LOC85449							143.0	124.0	131.0					20																	36869797		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869797G>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.736C>G	20.37:g.36869797G>C	ENSP00000279024:p.Pro246Ala					KIAA1755_uc002xhz.1_Missense_Mutation_p.P246A	p.P246A	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1008	-		Myeloproliferative disorder(115;0.00874)	246					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.736C>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570563	0.65765	.	.	ENSG00000149633	ENST00000279024	T	0.08370	3.1	5.46	5.46	0.80206	.	0.000000	0.49916	D	0.000131	T	0.28764	0.0713	M	0.71581	2.175	0.35522	D	0.801515	D	0.89917	1.0	D	0.79108	0.992	T	0.07693	-1.0759	10	0.52906	T	0.07	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	246	Q5JYT7	K1755_HUMAN	A	246	ENSP00000279024:P246A	ENSP00000279024:P246A	P	-	1	0	KIAA1755	36303211	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	5.408000	0.66368	2.840000	0.97914	0.655000	0.94253	CCA		PASS	0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		8	112	8	112	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37536802	37536802	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:37536802G>T	ENST00000299824.1	+	10	1349	c.1160G>T	c.(1159-1161)aGg>aTg	p.R387M	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R345M	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	387					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.R387M(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGGGACATCAGGGAGACCAGG	0.597																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1159-1161)AGG>ATG		protein phosphatase 1 regulatory inhibitor							103.0	92.0	96.0					20																	37536802		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536802G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1160G>T	20.37:g.37536802G>T	ENSP00000299824:p.Arg387Met					PPP1R16B_uc010ggc.2_Missense_Mutation_p.R345M	p.R387M	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			10	1349	+		Myeloproliferative disorder(115;0.00878)	387					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1160G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448327|4.448327	0.84101|0.84101	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.72282	.|-0.39;-0.64	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.202214	.|0.53938	.|D	.|0.000048	T|T	0.67050|0.67050	0.2852|0.2852	L|L	0.36672|0.36672	1.1|1.1	0.34368|0.34368	D|D	0.69167|0.69167	.|P;P	.|0.46277	.|0.875;0.747	.|B;B	.|0.43701	.|0.359;0.428	T|T	0.75889|0.75889	-0.3158|-0.3158	5|10	.|0.49607	.|T	.|0.09	.|.	18.2792|18.2792	0.90092|0.90092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|345;387	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	W|M	288|387;345	.|ENSP00000299824:R387M;ENSP00000362428:R345M	.|ENSP00000299824:R387M	G|R	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36970216|36970216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.954000|4.954000	0.63631|0.63631	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GGG|AGG		PASS	0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		3	66	3	66	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555035	37555035	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:37555035C>A	ENST00000217429.4	+	1	81	c.40C>A	c.(40-42)Cgg>Agg	p.R14R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	0					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R14R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GCCTATAAAGCGGGACTGCAC	0.652																																						uc002xjg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(40-42)CGG>AGG		hypothetical protein LOC81610							22.0	26.0	25.0					20																	37555035		1876	4097	5973	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555035C>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.40C>A	20.37:g.37555035C>A						FAM83D_uc002xjf.2_Silent_p.R14R	p.R14R	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			1	81	+		Myeloproliferative disorder(115;0.00878)	Error:Variant_position_missing_in_Q9H4H8_after_alignment					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.40C>A	CCDS42872.1																																																																																				PASS	0.652	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			41	26	41	26	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42694504	42694504	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:42694504C>T	ENST00000358131.5	+	6	1267	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	TOX2_ENST00000372999.1_Silent_p.A329A|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.A371A|TOX2_ENST00000423191.2_Silent_p.A329A	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	353					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A380A(1)|p.A329A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCCCCTGCCAGCCTCGCCC	0.701																																						uc002xlf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1057-1059)GCC>GCT		TOX high mobility group box family member 2							45.0	50.0	48.0					20																	42694504		2202	4298	6500	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694504C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1059C>T	20.37:g.42694504C>T						TOX2_uc010ggo.2_Silent_p.A371A|TOX2_uc002xle.3_Silent_p.A329A|TOX2_uc010ggp.2_Silent_p.A329A|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.A249A	p.A353A	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1076	+		Myeloproliferative disorder(115;0.00452)	353					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1059C>T	CCDS42875.1																																																																																				PASS	0.701	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			82	47	82	47	---	---	---	---
PI3	5266	broad.mit.edu	37	20	43804653	43804653	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:43804653C>T	ENST00000243924.3	+	2	278	c.231C>T	c.(229-231)ccC>ccT	p.P77P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	77	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P77P(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGCCCCATTATCTTGA	0.498																																						uc002xng.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CCC>CCT		elafin preproprotein							130.0	113.0	118.0					20																	43804653		2203	4300	6503	SO:0001819	synonymous_variant	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804653C>T	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.231C>T	20.37:g.43804653C>T							p.P77P	NM_002638	NP_002629	P19957	ELAF_HUMAN			2	255	+		Myeloproliferative disorder(115;0.0122)	77			WAP.		E1P618|Q6FG74	Silent	SNP	ENST00000243924.3	37	c.231C>T	CCDS13344.1																																																																																				PASS	0.498	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		66	39	66	39	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44664529	44664529	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:44664529G>A	ENST00000454036.2	+	4	511	c.462G>A	c.(460-462)gaG>gaA	p.E154E	SLC12A5_ENST00000372315.1_Silent_p.E131E|SLC12A5_ENST00000608944.1_Silent_p.E80E|SLC12A5_ENST00000243964.3_Silent_p.E131E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	154					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E131E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCATGGAGTCCTTCTGCA	0.622																																						uc010zxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(460-462)GAG>GAA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						184.0	133.0	150.0					20																	44664529		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664529G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.462G>A	20.37:g.44664529G>A						SLC12A5_uc002xra.2_Silent_p.E131E|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.E131E	p.E154E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			4	538	+		Myeloproliferative disorder(115;0.0122)	154			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.462G>A	CCDS46610.1																																																																																				PASS	0.622	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			16	73	16	73	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421182	62421182	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:62421182C>T	ENST00000245663.4	-	2	1079	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ZBTB46_ENST00000480766.1_5'UTR|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R310Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.R310Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	310					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R310Q(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ACTTGAGTCTCGGCTGCTGAA	0.662																																						uc002ygv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(928-930)CGA>CAA		zinc finger and BTB domain containing 46							67.0	72.0	70.0					20																	62421182		2203	4299	6502	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421182C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.929G>A	20.37:g.62421182C>T	ENSP00000245663:p.Arg310Gln					ZBTB46_uc002ygu.2_RNA	p.R310Q	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	1130	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		310					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.929G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975305	0.18736	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.09255	3.0;3.0;3.0	5.8	2.86	0.33363	.	0.212871	0.42172	D	0.000753	T	0.08088	0.0202	L	0.39633	1.23	0.36407	D	0.863474	B	0.18968	0.032	B	0.10450	0.005	T	0.28554	-1.0040	10	0.14656	T	0.56	.	8.3146	0.32093	0.0:0.7022:0.0:0.2978	.	310	Q86UZ6	ZBT46_HUMAN	Q	310	ENSP00000245663:R310Q;ENSP00000303102:R310Q;ENSP00000378536:R310Q	ENSP00000245663:R310Q	R	-	2	0	ZBTB46	61891626	1.000000	0.71417	0.745000	0.31077	0.057000	0.15508	4.071000	0.57556	0.390000	0.25115	-0.136000	0.14681	CGA		PASS	0.662	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		5	224	5	224	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10934063	10934063	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:10934063T>A	ENST00000361285.4	-	16	1243	c.914A>T	c.(913-915)gAt>gTt	p.D305V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.D287V|TPTE_ENST00000342420.5_Missense_Mutation_p.D267V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	305	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D287V(1)|p.D305V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTATGATCATCAATCATGAT	0.313																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(913-915)GAT>GTT		transmembrane phosphatase with tensin homology							172.0	178.0	176.0					21																	10934063		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934063T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.914A>T	21.37:g.10934063T>A	ENSP00000355208:p.Asp305Val					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D287V|TPTE_uc002yir.1_Missense_Mutation_p.D267V|TPTE_uc010gkv.1_Missense_Mutation_p.D167V	p.D305V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1282	-			305			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.914A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.64	1.998521	0.35226	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.89875	-2.58;-2.58;-2.58	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.978	D	0.92395	0.5924	10	0.87932	D	0	-30.019	8.0889	0.30788	0.0:0.0:0.0:1.0	.	267;287;305	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	287;305;267	ENSP00000298232:D287V;ENSP00000355208:D305V;ENSP00000344441:D267V	ENSP00000298232:D287V	D	-	2	0	TPTE	9955934	1.000000	0.71417	0.996000	0.52242	0.268000	0.26511	6.068000	0.71201	1.204000	0.43247	0.163000	0.16589	GAT		PASS	0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			29	229	29	229	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10970025	10970025	+	Missense_Mutation	SNP	C	C	G	rs143765390	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:10970025C>G	ENST00000361285.4	-	6	432	c.103G>C	c.(103-105)Gca>Cca	p.A35P	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.A35P|TPTE_ENST00000342420.5_Missense_Mutation_p.A35P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	35					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A35P(2)|p.A35S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCGCAGGTGCCTCCTCGGTT	0.408																																						uc002yip.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(103-105)GCA>CCA		transmembrane phosphatase with tensin homology							269.0	245.0	253.0					21																	10970025		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970025C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.103G>C	21.37:g.10970025C>G	ENSP00000355208:p.Ala35Pro					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A35P|TPTE_uc002yir.1_Missense_Mutation_p.A35P|TPTE_uc010gkv.1_Intron	p.A35P	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	471	-			35					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.103G>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	3.596	-0.082615	0.07141	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95412	-3.67;-3.7;-3.54	0.725	-1.45	0.08828	.	9.062640	0.03484	U	0.215606	D	0.88621	0.6486	N	0.14661	0.345	0.09310	N	1	P;P;B	0.42409	0.531;0.779;0.182	B;B;B	0.38616	0.259;0.277;0.099	T	0.82325	-0.0513	10	0.32370	T	0.25	.	4.5531	0.12124	0.0:0.5612:0.0:0.4388	.	35;35;35	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	P	35	ENSP00000298232:A35P;ENSP00000355208:A35P;ENSP00000344441:A35P	ENSP00000298232:A35P	A	-	1	0	TPTE	9991896	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.633000	0.02022	-0.977000	0.03537	-1.050000	0.02344	GCA		PASS	0.408	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			9	119	9	119	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19725358	19725358	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:19725358T>C	ENST00000284885.3	-	10	1066	c.1033A>G	c.(1033-1035)Att>Gtt	p.I345V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	345	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.I345V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTACAATTAATTTTCTCATAA	0.299																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1033-1035)ATT>GTT		enterokinase precursor							54.0	58.0	57.0					21																	19725358		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19725358T>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1033A>G	21.37:g.19725358T>C	ENSP00000284885:p.Ile345Val						p.I345V	NM_002772	NP_002763	P98073	ENTK_HUMAN			10	1064	-			345			Extracellular (Potential).|MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1033A>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945413	0.34377	.	.	ENSG00000154646	ENST00000284885	T	0.01963	4.53	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.090990	0.47852	D	0.000212	T	0.03053	0.0090	L	0.52011	1.625	0.41511	D	0.988348	B	0.30021	0.265	B	0.30251	0.113	T	0.54214	-0.8327	9	.	.	.	.	10.633	0.45547	0.0:0.0784:0.0:0.9216	.	345	P98073	ENTK_HUMAN	V	345	ENSP00000284885:I345V	.	I	-	1	0	TMPRSS15	18647229	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.490000	0.35573	2.079000	0.62486	0.533000	0.62120	ATT		PASS	0.299	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		37	87	37	87	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32582453	32582453	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:32582453G>C	ENST00000286827.3	-	12	2767	c.2296C>G	c.(2296-2298)Cca>Gca	p.P766A	TIAM1_ENST00000541036.1_Missense_Mutation_p.P741A|TIAM1_ENST00000469412.1_5'Flank	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	766	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P766A(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AACCAGGATGGAGTGAAATAC	0.517																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2296-2298)CCA>GCA		T-cell lymphoma invasion and metastasis 1							124.0	104.0	111.0					21																	32582453		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32582453G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2296C>G	21.37:g.32582453G>C	ENSP00000286827:p.Pro766Ala					TIAM1_uc011adk.1_Missense_Mutation_p.P766A|TIAM1_uc011adl.1_Missense_Mutation_p.P741A	p.P766A	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			12	2768	-			766			RBD.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2296C>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419013	0.83559	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.38401	1.58;1.14	5.93	5.93	0.95920	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.18903	-1.0322	10	0.14656	T	0.56	.	20.3324	0.98724	0.0:0.0:1.0:0.0	.	741;741;766	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	A	766;607;741	ENSP00000286827:P766A;ENSP00000441570:P741A	ENSP00000286827:P766A	P	-	1	0	TIAM1	31504324	1.000000	0.71417	0.624000	0.29186	0.959000	0.62525	9.446000	0.97590	2.799000	0.96334	0.650000	0.86243	CCA		PASS	0.517	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		16	50	16	50	---	---	---	---
SIK1	150094	broad.mit.edu	37	21	44845334	44845334	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:44845334G>C	ENST00000270162.6	-	3	358	c.226C>G	c.(226-228)Cag>Gag	p.Q76E		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.Q76E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TTCATCAGCTGAACCTCACGA	0.348																																						uc002zdf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(226-228)CAG>GAG		salt-inducible kinase 1							98.0	89.0	92.0					21																	44845334		2203	4300	6503	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44845334G>C	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.226C>G	21.37:g.44845334G>C	ENSP00000270162:p.Gln76Glu						p.Q76E	NM_173354	NP_775490	P57059	SIK1_HUMAN			3	353	-			76			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.226C>G	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544281	0.65198	.	.	ENSG00000142178	ENST00000270162	T	0.64991	-0.13	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	N	0.20483	0.58	0.50813	D	0.999894	B	0.24963	0.115	B	0.37989	0.262	T	0.58047	-0.7705	10	0.49607	T	0.09	.	18.3192	0.90231	0.0:0.0:1.0:0.0	.	76	P57059	SIK1_HUMAN	E	76	ENSP00000270162:Q76E	ENSP00000270162:Q76E	Q	-	1	0	SIK1	43669762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.332000	0.79203	2.306000	0.77630	0.655000	0.94253	CAG		PASS	0.348	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		15	30	15	30	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999774	45999774	+	Missense_Mutation	SNP	T	T	C	rs200900562	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:45999774T>C	ENST00000400372.1	-	1	707	c.682A>G	c.(682-684)Ata>Gta	p.I228V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	228	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I228V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGCATATGGGGCGGCAG	0.682													.|||	3	0.000599042	0.0	0.0	5008	,	,		18832	0.0		0.001	False		,,,				2504	0.002					uc002zfl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)ATA>GTA		keratin associated protein 10-5							65.0	76.0	72.0					21																	45999774		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999774T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.682A>G	21.37:g.45999774T>C	ENSP00000383223:p.Ile228Val					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.I228V	NM_198694	NP_941967	P60370	KR105_HUMAN			1	708	-			228			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.682A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.194699	0.00299	.	.	ENSG00000241123	ENST00000400372	T	0.00640	6.03	3.66	-0.867	0.10655	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.555	0.21064	N	0.999794	B	0.20550	0.046	B	0.25405	0.06	T	0.45396	-0.9264	9	0.02654	T	1	.	3.5285	0.07768	0.1652:0.5698:0.1611:0.1039	.	228	P60370	KR105_HUMAN	V	228	ENSP00000383223:I228V	ENSP00000383223:I228V	I	-	1	0	KRTAP10-5	44824202	.	.	0.972000	0.41901	0.048000	0.14542	.	.	-0.051000	0.13334	-0.835000	0.03068	ATA		PASS	0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	125	4	125	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					uc002zfl.1																			2	Substitution - coding silent(2)		lung(1)|prostate(1)		0						c.(613-615)TGT>TGC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C205C	NM_198694	NP_941967	P60370	KR105_HUMAN			1	641	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				PASS	0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	274	4	274	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46326964	46326964	+	Missense_Mutation	SNP	C	C	T	rs144806686		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:46326964C>T	ENST00000397850.2	-	5	646	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	ITGB2_ENST00000355153.4_Missense_Mutation_p.R65Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R65Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.R65Q|ITGB2_ENST00000523126.1_5'Flank|ITGB2_ENST00000302347.5_Missense_Mutation_p.R65Q|ITGB2_ENST00000397854.3_Missense_Mutation_p.R65Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	65					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R65Q(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCTGTGGCCGGGTGTCGCA	0.652																																						uc002zgd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(193-195)CGG>CAG		integrin, beta 2 precursor	Simvastatin(DB00641)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		194,194	3.6	0.1	21	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense	ITGB2	NM_000211.3,NM_001127491.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	65/770,65/770	46326964	1,13005	2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46326964C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.194G>A	21.37:g.46326964C>T	ENSP00000380948:p.Arg65Gln					ITGB2_uc002zge.2_Missense_Mutation_p.R65Q|ITGB2_uc002zgf.3_Missense_Mutation_p.R65Q|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.R65Q|ITGB2_uc002zgg.2_Missense_Mutation_p.R65Q	p.R65Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	3	238	-			65			Extracellular (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.194G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	4.635	0.118040	0.08881	2.27E-4	0.0	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000517819	D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.01	4.47	3.56	0.40772	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.88771	0.6527	L	0.33137	0.985	0.09310	N	1	D;P	0.61697	0.99;0.95	P;B	0.48334	0.574;0.397	T	0.79179	-0.1910	9	0.13853	T	0.58	.	7.1648	0.25685	0.0:0.799:0.0:0.201	.	65;65	A8MYE6;P05107	.;ITB2_HUMAN	Q	65;65;65;65;65;65;65;56;65;65;65;65	ENSP00000380950:R65Q;ENSP00000380955:R65Q;ENSP00000380952:R65Q;ENSP00000347279:R65Q;ENSP00000380948:R65Q;ENSP00000303242:R65Q;ENSP00000317697:R56Q;ENSP00000428503:R65Q;ENSP00000428979:R65Q;ENSP00000428413:R65Q;ENSP00000428870:R65Q	ENSP00000303242:R65Q	R	-	2	0	ITGB2	45151392	0.000000	0.05858	0.103000	0.21229	0.108000	0.19459	-0.180000	0.09754	2.324000	0.78689	0.511000	0.50034	CGG		PASS	0.652	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		25	58	25	58	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47532249	47532249	+	Missense_Mutation	SNP	G	G	C	rs201792591		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:47532249G>C	ENST00000300527.4	+	3	576	c.472G>C	c.(472-474)Gtg>Ctg	p.V158L	COL6A2_ENST00000409416.1_Missense_Mutation_p.V158L|COL6A2_ENST00000397763.1_Missense_Mutation_p.V158L|COL6A2_ENST00000310645.5_Missense_Mutation_p.V158L|COL6A2_ENST00000357838.4_Missense_Mutation_p.V158L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	158	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.V158L(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACTTCGCCGTGGTCATCAC	0.711																																						uc002zia.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(472-474)GTG>CTG		alpha 2 type VI collagen isoform 2C2 precursor							17.0	18.0	18.0					21																	47532249		2193	4284	6477	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532249G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.472G>C	21.37:g.47532249G>C	ENSP00000300527:p.Val158Leu					COL6A2_uc002zhy.1_Missense_Mutation_p.V158L|COL6A2_uc002zhz.1_Missense_Mutation_p.V158L|COL6A2_uc002zib.1_Intron	p.V158L	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	554	+	Breast(49;0.245)		158			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.472G>C	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217973	0.58560	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	4.34	2.39	0.29439	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	L	0.31845	0.965	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.926	D;D;P	0.87578	0.996;0.998;0.72	T	0.74763	-0.3555	10	0.17832	T	0.49	-16.7419	9.9864	0.41843	0.0814:0.1405:0.7781:0.0	.	158;158;158	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	L	158	ENSP00000300527:V158L;ENSP00000350497:V158L;ENSP00000312529:V158L;ENSP00000390418:V158L;ENSP00000387115:V158L;ENSP00000380870:V158L	ENSP00000300527:V158L	V	+	1	0	COL6A2	46356677	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	3.787000	0.55439	0.904000	0.36572	0.467000	0.42956	GTG		PASS	0.711	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			6	26	6	26	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47832813	47832813	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr21:47832813G>A	ENST00000359568.5	+	29	6164	c.6057G>A	c.(6055-6057)gtG>gtA	p.V2019V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2019					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.V2019V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGAAGGCGTGATGTCAGTGC	0.572																																						uc002zji.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(6055-6057)GTG>GTA		pericentrin							114.0	107.0	109.0					21																	47832813		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47832813G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6057G>A	21.37:g.47832813G>A						PCNT_uc002zjj.2_Silent_p.V1901V	p.V2019V	NM_006031	NP_006022	O95613	PCNT_HUMAN			29	6164	+	Breast(49;0.112)		2019					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.6057G>A	CCDS33592.1																																																																																				PASS	0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	120	4	120	---	---	---	---
VPREB3	29802	broad.mit.edu	37	22	24095215	24095215	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:24095215C>T	ENST00000248948.3	-	2	324	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF70_ENST00000341976.3_5'Flank|VPREB3_ENST00000398465.3_Missense_Mutation_p.E58K	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	74	Ig-like.					endoplasmic reticulum (GO:0005783)		p.E74K(1)		large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				TGATCCTCCTCCGAGCGGTAG	0.627																																						uc002zxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)GAG>AAG		pre-B lymphocyte 3 precursor							104.0	82.0	90.0					22																	24095215		2203	4300	6503	SO:0001583	missense	29802					endoplasmic reticulum		g.chr22:24095215C>T		CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"""Immunoglobulin superfamily / V-set domain containing"""	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.220G>A	22.37:g.24095215C>T	ENSP00000248948:p.Glu74Lys					ZNF70_uc002zxs.2_5'Flank	p.E74K	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN			2	300	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	74			Ig-like.		B2R587	Missense_Mutation	SNP	ENST00000248948.3	37	c.220G>A	CCDS13813.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339035	0.41398	.	.	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.64991	-0.13;-0.13	5.46	3.34	0.38264	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.475678	0.17810	N	0.161221	T	0.42017	0.1184	N	0.13371	0.34	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.35425	-0.9789	10	0.66056	D	0.02	.	7.2174	0.25967	0.0:0.7078:0.1394:0.1528	.	74	Q9UKI3	VPRE3_HUMAN	K	58;74	ENSP00000381483:E58K;ENSP00000248948:E74K	ENSP00000248948:E74K	E	-	1	0	VPREB3	22425215	0.014000	0.17966	0.016000	0.15963	0.011000	0.07611	0.338000	0.19858	0.790000	0.33803	0.650000	0.86243	GAG		PASS	0.627	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2	NM_013378		14	42	14	42	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29706515	29706515	+	IGR	SNP	G	G	C	rs200625190		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:29706515G>C	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407854.1_Silent_p.S240S|GAS2L1_ENST00000403764.1_Silent_p.S240S|GAS2L1_ENST00000471961.1_Silent_p.S240S|GAS2L1_ENST00000341313.6_Silent_p.S240S|GAS2L1_ENST00000360113.2_Silent_p.S240S|GAS2L1_ENST00000407647.2_Silent_p.S240S|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000406549.3_Silent_p.S240S	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S240S(2)		NS(1)	1						TGGGGGACTCGAGCCTGCTCA	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		12712	0.0		0.001	False		,,,				2504	0.0					uc003afa.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(718-720)TCG>TCC		growth arrest-specific 2 like 1 isoform a							73.0	73.0	73.0					22																	29706515		2203	4300	6503	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29706515G>C	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706515G>C						GAS2L1_uc010gvm.1_Silent_p.S240S|GAS2L1_uc003afb.1_Silent_p.S240S|GAS2L1_uc003afc.1_Silent_p.S240S|GAS2L1_uc003afd.1_Silent_p.S240S|GAS2L1_uc003afe.1_Silent_p.S240S	p.S240S	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			3	919	+			240			GAR.		Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.720G>C	CCDS13854.1																																																																																				PASS	0.677	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			14	77	14	77	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29745309	29745309	+	Silent	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:29745309C>A	ENST00000405198.1	-	10	1366	c.1335G>T	c.(1333-1335)cgG>cgT	p.R445R	AP1B1_ENST00000415447.1_Silent_p.R445R|AP1B1_ENST00000432560.2_Silent_p.R445R|AP1B1_ENST00000356015.2_Silent_p.R445R|AP1B1_ENST00000357586.2_Silent_p.R445R|AP1B1_ENST00000317368.7_Silent_p.R445R|AP1B1_ENST00000402502.1_Silent_p.R445R			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	445					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R445R(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCATGGCAGCCCGGGCCTCAG	0.587																																						uc003afj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1333-1335)CGG>CGT		adaptor-related protein complex 1 beta 1 subunit							100.0	89.0	92.0					22																	29745309		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29745309C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1335G>T	22.37:g.29745309C>A						AP1B1_uc003afi.2_Silent_p.R445R|AP1B1_uc003afk.2_Silent_p.R445R|AP1B1_uc003afl.2_Silent_p.R445R|AP1B1_uc011ako.1_5'UTR	p.R445R	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			11	1519	-			445					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1335G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570988	0.28003	.	.	ENSG00000100280	ENST00000415756	.	.	.	5.7	-3.66	0.04489	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36841	-0.9731	4	.	.	.	-23.9307	2.3785	0.04348	0.107:0.4425:0.2079:0.2426	.	.	.	.	C	158	.	.	G	-	1	0	AP1B1	28075309	0.001000	0.12720	0.985000	0.45067	0.998000	0.95712	-1.396000	0.02513	-0.390000	0.07774	0.655000	0.94253	GGC		PASS	0.587	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		32	121	32	121	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30189459	30189459	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:30189459C>G	ENST00000397771.2	-	18	1986	c.1809G>C	c.(1807-1809)gaG>gaC	p.E603D	ASCC2_ENST00000542393.1_Missense_Mutation_p.E527D|ASCC2_ENST00000307790.3_Missense_Mutation_p.E603D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E603D(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGGGCAGGCTCTCGCCTGGCT	0.602																																						uc003agr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)GAG>GAC		activating signal cointegrator 1 complex subunit							75.0	58.0	64.0					22																	30189459		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30189459C>G	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1809G>C	22.37:g.30189459C>G	ENSP00000380877:p.Glu603Asp					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E603D|ASCC2_uc011akr.1_Missense_Mutation_p.E527D	p.E603D	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		17	1914	-			603					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1809G>C	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	3.950	-0.012488	0.07727	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.09073	3.08;3.08;3.02	3.94	2.76	0.32466	.	0.235197	0.43260	N	0.000588	T	0.04363	0.0120	L	0.27053	0.805	0.34829	D	0.739512	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.34378	-0.9831	10	0.05351	T	0.99	-15.46	5.74	0.18087	0.0:0.7135:0.0:0.2865	.	527;603	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	D	603;603;527	ENSP00000305502:E603D;ENSP00000380877:E603D;ENSP00000437570:E527D	ENSP00000305502:E603D	E	-	3	2	ASCC2	28519459	0.037000	0.19845	0.685000	0.30070	0.281000	0.26958	-0.103000	0.10940	0.719000	0.32188	0.609000	0.83330	GAG		PASS	0.602	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		24	77	24	77	---	---	---	---
RFPL3	10738	broad.mit.edu	37	22	32756259	32756259	+	Missense_Mutation	SNP	G	G	T	rs146565766	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:32756259G>T	ENST00000249007.4	+	2	599	c.394G>T	c.(394-396)Gac>Tac	p.D132Y	RFPL3_ENST00000382088.3_Missense_Mutation_p.D103Y|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.D103Y|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D132Y(1)|p.D103Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGGATGCCGACACAGCCAA	0.502																																						uc003amj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(394-396)GAC>TAC		ret finger protein-like 3 isoform 1							123.0	112.0	116.0					22																	32756259		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756259G>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.394G>T	22.37:g.32756259G>T	ENSP00000249007:p.Asp132Tyr					RFPL3_uc010gwn.2_Missense_Mutation_p.D103Y|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.D132Y	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	599	+			132			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.394G>T	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202023	0.22121	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.12569	2.67;2.67;2.67	0.664	-0.657	0.11432	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.38639	0.1048	M	0.93197	3.39	0.36084	D	0.84299	D	0.89917	1.0	D	0.72338	0.977	T	0.37865	-0.9687	9	0.87932	D	0	.	4.5983	0.12341	0.4728:0.0:0.5272:0.0	.	132	O75679	RFPL3_HUMAN	Y	103;132;103	ENSP00000380609:D103Y;ENSP00000249007:D132Y;ENSP00000371520:D103Y	ENSP00000249007:D132Y	D	+	1	0	RFPL3	31086259	0.000000	0.05858	0.102000	0.21198	0.095000	0.18619	0.003000	0.13083	-0.536000	0.06298	-1.050000	0.02344	GAC		PASS	0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		24	118	24	118	---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37696994	37696994	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:37696994G>C	ENST00000248901.6	+	7	668	c.481G>C	c.(481-483)Gac>Cac	p.D161H	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	161	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.D161H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGAAGATAGACCGGATGAT	0.687																																						uc003arf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)GAC>CAC		cytohesin 4							58.0	50.0	53.0					22																	37696994		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37696994G>C	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.481G>C	22.37:g.37696994G>C	ENSP00000248901:p.Asp161His					CYTH4_uc003are.2_Missense_Mutation_p.D161H|CYTH4_uc011amw.1_Missense_Mutation_p.D104H|CYTH4_uc010gxe.2_Intron	p.D161H	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			7	597	+			161			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.481G>C	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550876	0.86127	.	.	ENSG00000100055	ENST00000248901;ENST00000422721	T	0.60548	0.18	4.22	4.22	0.49857	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	H	0.95917	3.74	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.89225	0.3573	10	0.87932	D	0	.	15.7205	0.77705	0.0:0.0:1.0:0.0	.	161;174	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	H	161;174	ENSP00000248901:D161H	ENSP00000248901:D161H	D	+	1	0	CYTH4	36026940	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	9.514000	0.98013	2.078000	0.62432	0.462000	0.41574	GAC		PASS	0.687	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			9	30	9	30	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38894559	38894559	+	Silent	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:38894559C>T	ENST00000396821.3	-	4	657	c.558G>A	c.(556-558)ttG>ttA	p.L186L	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.L107L	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	186					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.L186L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCTGATCCATCAACACATCCA	0.393																																					Ovarian(55;1085 1454 6392 21425)	uc003avy.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(556-558)TTG>TTA		DEAD box polypeptide 17 isoform 3							114.0	100.0	105.0					22																	38894559		2203	4300	6503	SO:0001819	synonymous_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38894559C>T	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.558G>A	22.37:g.38894559C>T						DDX17_uc003avx.3_Silent_p.L186L|DDX17_uc011anu.1_Silent_p.L99L	p.L186L	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			4	661	-	Melanoma(58;0.0286)		107			Q motif.		B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	ENST00000396821.3	37	c.558G>A	CCDS46706.1																																																																																				PASS	0.393	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		18	164	18	164	---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45127638	45127638	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:45127638G>T	ENST00000336985.6	+	5	628	c.351G>T	c.(349-351)gaG>gaT	p.E117D	PRR5_ENST00000403581.1_Missense_Mutation_p.E140D|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_Missense_Mutation_p.E108D|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E117D|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E117D	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	117					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.E140D(1)|p.E117D(1)|p.E108D(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CACTGGCAGAGACCTGGGACT	0.652																																						uc003bfd.2																			3	Substitution - Missense(3)		lung(3)	skin(2)	2						c.(349-351)GAG>GAT		Rho GTPase activating protein 8 isoform 2							91.0	69.0	76.0					22																	45127638		2203	4300	6503	SO:0001583	missense	553158							g.chr22:45127638G>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.351G>T	22.37:g.45127638G>T	ENSP00000337464:p.Glu117Asp					PRR5_uc003bew.1_Missense_Mutation_p.E108D|PRR5_uc003bex.1_Missense_Mutation_p.E22D|PRR5_uc010gzt.1_Missense_Mutation_p.E140D|PRR5_uc010gzu.1_Missense_Mutation_p.E81D|PRR5_uc003bey.1_Missense_Mutation_p.E108D|PRR5_uc003bez.1_Missense_Mutation_p.E22D|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.E10D|PRR5_uc003bfb.1_Missense_Mutation_p.E117D|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.E16D	p.E117D	NM_181335	NP_851852					5	623	+								B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.351G>T	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034008|4.034008	0.75504|0.75504	.|.	.|.	ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000248405;ENSG00000241484|ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000403696;ENST00000457960;ENST00000352766;ENST00000517296|ENST00000455389	T;T;T;T;T;T;T;T|.	0.76578|.	-1.03;-1.03;-1.03;-1.03;1.51;-1.03;-1.03;-1.03|.	5.6|5.6	3.09|3.09	0.35607|0.35607	.|.	0.354139|.	0.20051|.	N|.	0.100287|.	T|T	0.36331|0.36331	0.0963|0.0963	N|N	0.17631|0.17631	0.505|0.505	0.80722|0.80722	D|D	1|1	B;P;B;B;P;P|.	0.39883|.	0.117;0.693;0.197;0.276;0.494;0.494|.	B;P;B;B;B;B|.	0.50590|.	0.136;0.645;0.188;0.202;0.416;0.416|.	T|T	0.09292|0.09292	-1.0681|-1.0681	10|5	0.87932|.	D|.	0|.	.|.	5.2542|5.2542	0.15539|0.15539	0.2003:0.1916:0.6081:0.0|0.2003:0.1916:0.6081:0.0	.|.	81;140;16;117;117;117|.	B1AHF5;B1AHF6;P85299-2;B1AHC4;P85299;A8K699|.	.;.;.;.;PRR5_HUMAN;.|.	D|I	108;108;81;140;117;134;108;117;117|77	ENSP00000400925:E108D;ENSP00000006251:E108D;ENSP00000384848:E140D;ENSP00000337464:E117D;ENSP00000384746:E134D;ENSP00000410215:E108D;ENSP00000262731:E117D;ENSP00000429240:E117D|.	ENSP00000262731:E117D|.	E|R	+|+	3|2	2|0	PRR5;PRR5-ARHGAP8;ARHGAP8|PRR5	43506302|43506302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.599000|0.599000	0.24089|0.24089	1.313000|1.313000	0.45069|0.45069	0.591000|0.591000	0.81541|0.81541	GAG|AGA		PASS	0.652	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		42	24	42	24	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45779481	45779481	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:45779481C>T	ENST00000357450.4	-	12	1923	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	SMC1B_ENST00000404354.3_Missense_Mutation_p.D642N	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	642	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D642N(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATGTTCCATCAAGAGCTACT	0.323																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1924-1926)GAT>AAT		SMC1 structural maintenance of chromosomes							79.0	69.0	72.0					22																	45779481		1799	4070	5869	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779481C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1924G>A	22.37:g.45779481C>T	ENSP00000350036:p.Asp642Asn					SMC1B_uc003bgd.2_Missense_Mutation_p.D642N|SMC1B_uc003bge.1_Missense_Mutation_p.D425N	p.D642N	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	1976	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	642			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1924G>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425621	0.96131	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.87809	-2.3;-2.3	6.08	6.08	0.98989	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000018	D	0.94387	0.8195	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;D;D	0.85130	0.813;0.997;0.938	D	0.93732	0.7042	10	0.59425	D	0.04	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	642;642;642	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	N	642	ENSP00000350036:D642N;ENSP00000385902:D642N	ENSP00000350036:D642N	D	-	1	0	SMC1B	44158145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.894000	0.99253	0.655000	0.94253	GAT		PASS	0.323	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		49	78	49	78	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46653841	46653841	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:46653841C>G	ENST00000253255.5	-	1	5378	c.5379G>C	c.(5377-5379)ttG>ttC	p.L1793F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1793					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L1793F(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTTGCCTCATCAATGGAAGGC	0.408																																						uc003bhh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(5377-5379)TTG>TTC		receptor for egg jelly-like protein precursor							164.0	165.0	164.0					22																	46653841		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653841C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5379G>C	22.37:g.46653841C>G	ENSP00000253255:p.Leu1793Phe						p.L1793F	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5379	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1793			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5379G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806220	0.50421	.	.	ENSG00000130943	ENST00000253255	T	0.71341	-0.56	4.8	-0.145	0.13436	Polycystin cation channel, PKD1/PKD2 (1);	0.518753	0.15606	N	0.253652	T	0.73273	0.3566	M	0.68317	2.08	0.09310	N	1	P	0.44946	0.846	P	0.50659	0.647	T	0.65619	-0.6124	10	0.52906	T	0.07	-10.9624	10.5596	0.45138	0.1231:0.3311:0.5458:0.0	.	1793	Q9NTG1	PKDRE_HUMAN	F	1793	ENSP00000253255:L1793F	ENSP00000253255:L1793F	L	-	3	2	PKDREJ	45032505	0.049000	0.20398	0.002000	0.10522	0.979000	0.70002	0.214000	0.17541	-0.085000	0.12573	0.305000	0.20034	TTG		PASS	0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	398	6	398	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50900000	50900000	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr22:50900000G>A	ENST00000390679.3	-	22	2975	c.2791C>T	c.(2791-2793)Ctc>Ttc	p.L931F	SBF1_ENST00000380817.3_Missense_Mutation_p.L931F|SBF1_ENST00000348911.6_Missense_Mutation_p.L932F			O95248	MTMR5_HUMAN	SET binding factor 1	931	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L931F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TACGTGGTGAGGAAGACGGCG	0.701																																						uc003blh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2791-2793)CTC>TTC		SET binding factor 1							26.0	34.0	31.0					22																	50900000		2045	4153	6198	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900000G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2791C>T	22.37:g.50900000G>A	ENSP00000375097:p.Leu931Phe					SBF1_uc011arx.1_Missense_Mutation_p.L595F|SBF1_uc003bli.2_Missense_Mutation_p.L932F	p.L931F	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	22	2986	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	931			GRAM.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2791C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.834919	0.91036	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.92911	-3.13;-3.13;-3.13	3.96	3.96	0.45880	GRAM (2);	0.242632	0.34853	N	0.003634	D	0.96021	0.8704	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.96823	0.9605	10	0.87932	D	0	.	15.801	0.78453	0.0:0.0:1.0:0.0	.	931;932;931	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	F	931;932;941;931	ENSP00000370196:L931F;ENSP00000252027:L932F;ENSP00000375097:L931F	ENSP00000336522:L941F	L	-	1	0	SBF1	49246866	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.084000	0.94076	2.048000	0.60808	0.467000	0.42956	CTC		PASS	0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	27	10	27	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10047794	10047794	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:10047794G>T	ENST00000380861.4	+	5	718	c.327G>T	c.(325-327)caG>caT	p.Q109H	WWC3_ENST00000454666.1_Missense_Mutation_p.Q109H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	109					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Q109H(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGACCCAGATGAAGCAGG	0.433																																						uc004csx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(325-327)CAG>CAT		WWC family member 3							83.0	71.0	75.0					X																	10047794		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10047794G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.327G>T	X.37:g.10047794G>T	ENSP00000370242:p.Gln109His					WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	p.Q109H	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			5	525	+			109			Potential.		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.327G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519386	0.64634	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05925	3.37;3.37	5.31	5.31	0.75309	.	0.116753	0.64402	D	0.000011	T	0.17408	0.0418	L	0.46885	1.475	0.54753	D	0.999981	D	0.65815	0.995	D	0.64595	0.927	T	0.05435	-1.0885	10	0.20519	T	0.43	-31.7335	17.9762	0.89128	0.0:0.0:1.0:0.0	.	109	Q9ULE0	WWC3_HUMAN	H	109	ENSP00000370242:Q109H;ENSP00000399584:Q109H	ENSP00000370242:Q109H	Q	+	3	2	WWC3	10007794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	2.366000	0.80165	0.544000	0.68410	CAG		PASS	0.433	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		13	13	13	13	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18213564	18213564	+	Splice_Site	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:18213564T>A	ENST00000380033.4	-	7	1166		c.e7-2		BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2									p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTTCTCAGCTATTGGGAaaa	0.343																																						uc004cyj.3																			1	Unknown(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.e7-1		BEN domain containing 2							94.0	81.0	85.0					X																	18213564		2203	4300	6503	SO:0001630	splice_region_variant	139105							g.chrX:18213564T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1034-2A>T	X.37:g.18213564T>A						BEND2_uc010nfb.2_Intron	p.A345_splice	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			7	1188	-								E9PFY2|Q4V9S2|Q5JXE5	Splice_Site	SNP	ENST00000380033.4	37	c.1034_splice	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	T	3.478	-0.106533	0.06924	.	.	ENSG00000177324	ENST00000380033	.	.	.	2.98	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8504	0.18689	0.0:0.3992:0.0:0.6008	.	.	.	.	.	-1	.	.	.	-	.	.	BEND2	18123485	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-0.312000	0.08741	0.451000	0.29950	.		PASS	0.343	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	Intron	19	19	19	19	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18230740	18230740	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:18230740C>G	ENST00000380033.4	-	4	569	c.437G>C	c.(436-438)aGt>aCt	p.S146T	BEND2_ENST00000380030.3_Missense_Mutation_p.S146T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	146								p.S146T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGAGTTGTAACTGTATCTTCT	0.338																																						uc004cyj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(436-438)AGT>ACT		BEN domain containing 2							185.0	169.0	175.0					X																	18230740		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18230740C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.437G>C	X.37:g.18230740C>G	ENSP00000369372:p.Ser146Thr					BEND2_uc010nfb.2_Missense_Mutation_p.S146T	p.S146T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			4	591	-			146					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.437G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270337	0.05716	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.27402	1.72;1.67	3.14	-6.28	0.02020	.	1.013630	0.07949	U	0.980560	T	0.13841	0.0335	N	0.19112	0.55	0.09310	N	1	P;P	0.37864	0.61;0.61	B;B	0.31751	0.135;0.135	T	0.07520	-1.0768	10	0.33141	T	0.24	.	6.1726	0.20427	0.3268:0.5337:0.0:0.1394	.	146;146	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	T	146	ENSP00000369372:S146T;ENSP00000369369:S146T	ENSP00000369369:S146T	S	-	2	0	BEND2	18140661	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.138000	0.00587	-3.339000	0.00184	0.422000	0.28245	AGT		PASS	0.338	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		35	46	35	46	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22186486	22186486	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:22186486G>A	ENST00000379374.4	+	13	2027	c.1462G>A	c.(1462-1464)Gtt>Att	p.V488I	PHEX-AS1_ENST00000424650.1_RNA|PHEX_ENST00000535894.1_Missense_Mutation_p.V391I|PHEX_ENST00000418858.3_Missense_Mutation_p.V191I|PHEX_ENST00000537599.1_Missense_Mutation_p.V488I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	488					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V488I(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGATACTCATGTTAATGAAGA	0.363																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1462-1464)GTT>ATT		phosphate-regulating neutral endopeptidase							108.0	100.0	102.0					X																	22186486		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22186486G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1462G>A	X.37:g.22186486G>A	ENSP00000368682:p.Val488Ile					PHEX_uc011mjr.1_Missense_Mutation_p.V488I|PHEX_uc011mjs.1_Missense_Mutation_p.V391I	p.V488I	NM_000444	NP_000435	P78562	PHEX_HUMAN			13	1665	+			488			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1462G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894966	0.33442	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	4.99	0.0707	0.14379	.	0.388740	0.27486	N	0.019149	T	0.43853	0.1266	N	0.00403	-1.54	0.30847	N	0.735	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45454	-0.9260	10	0.49607	T	0.09	-9.2179	5.0354	0.14432	0.5096:0.0:0.3427:0.1476	.	488;488	F5GXU4;P78562	.;PHEX_HUMAN	I	488;488;391;191	ENSP00000368682:V488I;ENSP00000440362:V488I;ENSP00000439418:V391I;ENSP00000443531:V191I	ENSP00000368682:V488I	V	+	1	0	PHEX	22096407	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	0.387000	0.20718	-0.119000	0.11830	0.600000	0.82982	GTT		PASS	0.363	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		27	35	27	35	---	---	---	---
ACOT9	23597	broad.mit.edu	37	X	23723173	23723173	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:23723173T>C	ENST00000336430.7	-	13	1148	c.1017A>G	c.(1015-1017)gcA>gcG	p.A339A	ACOT9_ENST00000379295.1_Silent_p.A279A|ACOT9_ENST00000379303.5_Silent_p.A348A	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	339					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.A339A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TGTCATCTACTGCTACCACAA	0.408																																						uc004dap.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1015-1017)GCA>GCG		acyl-Coenzyme A thioesterase 2, mitochondrial							120.0	111.0	114.0					X																	23723173		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723173T>C	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1017A>G	X.37:g.23723173T>C						ACOT9_uc004dan.2_Silent_p.A89A|ACOT9_uc004dao.2_Silent_p.A348A|ACOT9_uc004daq.2_Silent_p.A297A|ACOT9_uc004dar.2_Silent_p.A279A|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.A279A	p.A339A	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN			13	1163	-			339					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.1017A>G	CCDS35216.1																																																																																				PASS	0.408	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		44	31	44	31	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24721417	24721417	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:24721417C>T	ENST00000379059.3	+	3	215	c.200C>T	c.(199-201)tCg>tTg	p.S67L	POLA1_ENST00000379068.3_Missense_Mutation_p.S73L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	67					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.S67L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GAACAGTATTCGAAGCTGGTT	0.478																																						uc004dbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(199-201)TCG>TTG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						103.0	81.0	89.0					X																	24721417		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24721417C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.200C>T	X.37:g.24721417C>T	ENSP00000368349:p.Ser67Leu					POLA1_uc004dbm.2_Missense_Mutation_p.S73L|POLA1_uc004dbn.2_5'UTR	p.S67L	NM_016937	NP_058633	P09884	DPOLA_HUMAN			3	223	+			67					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.200C>T	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663418	0.88251	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18502	2.21;2.21	5.37	5.37	0.77165	DNA polymerase alpha catalytic subunit, N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.16364	-1.0405	10	0.38643	T	0.18	-6.3284	17.7902	0.88550	0.0:1.0:0.0:0.0	.	73;67	A6NMQ1;P09884	.;DPOLA_HUMAN	L	73;67	ENSP00000368358:S73L;ENSP00000368349:S67L	ENSP00000368349:S67L	S	+	2	0	POLA1	24631338	1.000000	0.71417	0.947000	0.38551	0.990000	0.78478	6.330000	0.72925	2.489000	0.83994	0.594000	0.82650	TCG		PASS	0.478	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		6	6	6	6	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157751	26157751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:26157751G>T	ENST00000325250.1	+	2	836	c.649G>T	c.(649-651)Gag>Tag	p.E217*		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	217	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.E217*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGCCCCAGAAGAGGCAGTCTG	0.463																																						uc004dbq.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)GAG>TAG		melanoma antigen family B, 18							34.0	29.0	31.0					X																	26157751		2202	4300	6502	SO:0001587	stop_gained	286514						protein binding	g.chrX:26157751G>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.649G>T	X.37:g.26157751G>T	ENSP00000314543:p.Glu217*						p.E217*	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	836	+			217			MAGE.			Nonsense_Mutation	SNP	ENST00000325250.1	37	c.649G>T	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960644	0.53400	.	.	ENSG00000176774	ENST00000325250	.	.	.	4.56	3.69	0.42338	.	0.693386	0.14013	N	0.347298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.9833	0.24715	0.1245:0.0:0.8755:0.0	.	.	.	.	X	217	.	ENSP00000314543:E217X	E	+	1	0	MAGEB18	26067672	0.724000	0.28038	0.120000	0.21714	0.052000	0.14988	1.422000	0.34826	1.255000	0.44051	0.600000	0.82982	GAG		PASS	0.463	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		5	3	5	3	---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30326502	30326502	+	Nonsense_Mutation	SNP	C	C	A	rs369139831		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:30326502C>A	ENST00000378970.4	-	1	1213	c.979G>T	c.(979-981)Gag>Tag	p.E327*	NR0B1_ENST00000453287.1_Nonsense_Mutation_p.E327*|NR0B1_ENST00000378963.1_Nonsense_Mutation_p.E32*	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	327	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E327*(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCCCCGGTCTCCCGCCGCCTG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(979-981)GAG>TAG		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						20.0	16.0	17.0					X																	30326502		2197	4298	6495	SO:0001587	stop_gained	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326502C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.979G>T	X.37:g.30326502C>A	ENSP00000368253:p.Glu327*		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.E327*	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	994	-			327			Ligand-binding (By similarity).		Q96F69	Nonsense_Mutation	SNP	ENST00000378970.4	37	c.979G>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662805	0.88251	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	.	.	.	5.07	5.07	0.68467	.	0.280315	0.39909	N	0.001224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-4.1087	16.201	0.82078	0.0:1.0:0.0:0.0	.	.	.	.	X	327;32;327	.	ENSP00000368246:E32X	E	-	1	0	NR0B1	30236423	0.974000	0.33945	0.997000	0.53966	0.280000	0.26924	2.106000	0.41835	2.342000	0.79632	0.600000	0.82982	GAG		PASS	0.677	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		7	11	7	11	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31089771	31089771	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:31089771G>T	ENST00000359202.3	-	1	399	c.300C>A	c.(298-300)gcC>gcA	p.A100A		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	100	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.A100A(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CGGACTCCATGGCCACGAGCC	0.627																																						uc004dcl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(298-300)GCC>GCA		ferritin, heavy polypeptide-like 17							70.0	59.0	62.0					X																	31089771		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089771G>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.300C>A	X.37:g.31089771G>T							p.A100A	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	403	-			100			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.300C>A	CCDS14227.1																																																																																				PASS	0.627	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		23	37	23	37	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148342	34148342	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:34148342G>C	ENST00000346193.3	-	1	2105	c.2054C>G	c.(2053-2055)tCt>tGt	p.S685C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	685								p.S685C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCGGTATAAGAATTCGATGG	0.443																																						uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2053-2055)TCT>TGT		hypothetical protein LOC158724							83.0	81.0	82.0					X																	34148342		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148342G>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2054C>G	X.37:g.34148342G>C	ENSP00000345029:p.Ser685Cys						p.S685C	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	2087	-			685					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2054C>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278706	0.23307	.	.	ENSG00000185448	ENST00000346193	T	0.62498	0.02	1.49	1.49	0.22878	.	.	.	.	.	T	0.68668	0.3026	M	0.73598	2.24	0.09310	N	1	D	0.59767	0.986	P	0.56042	0.79	T	0.56068	-0.8040	9	0.46703	T	0.11	.	5.9674	0.19332	0.0:0.0:1.0:0.0	.	685	Q5JRC9	FA47A_HUMAN	C	685	ENSP00000345029:S685C	ENSP00000345029:S685C	S	-	2	0	FAM47A	34058263	0.086000	0.21541	0.004000	0.12327	0.001000	0.01503	1.022000	0.30052	1.051000	0.40369	0.544000	0.68410	TCT		PASS	0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		38	50	38	50	---	---	---	---
TSPYL2	64061	broad.mit.edu	37	X	53117071	53117071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:53117071C>T	ENST00000375442.4	+	7	2164	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	678					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.Q678*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGATGTGCTTCAGGTCCCAAA	0.527											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004drw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2032-2034)CAG>TAG		TSPY-like 2							152.0	126.0	135.0					X																	53117071		2203	4300	6503	SO:0001587	stop_gained	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53117071C>T	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.2032C>T	X.37:g.53117071C>T	ENSP00000364591:p.Gln678*		OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	990	TSPYL2_uc004drv.2_3'UTR	p.Q678*	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			7	2164	+			678					O94799|Q96DG7|Q9BZW6	Nonsense_Mutation	SNP	ENST00000375442.4	37	c.2032C>T	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502496	0.96371	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.79	3.79	0.43588	.	0.683276	0.12148	N	0.495216	.	.	.	.	.	.	0.36999	D	0.895153	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0499	10.1468	0.42769	0.0:1.0:0.0:0.0	.	.	.	.	X	678	.	ENSP00000364591:Q678X	Q	+	1	0	TSPYL2	53133796	0.997000	0.39634	0.234000	0.24042	0.173000	0.22820	1.609000	0.36858	2.148000	0.66965	0.436000	0.28706	CAG		PASS	0.527	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		24	19	24	19	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67940891	67940891	+	Silent	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:67940891G>A	ENST00000252336.6	+	8	2307	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	STARD8_ENST00000374597.3_Silent_p.K645K|STARD8_ENST00000374599.3_Silent_p.K725K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	645	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.K645K(2)|p.K725K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCTGCTAAAGCAGTATTTCC	0.557																																						uc004dxa.2																			3	Substitution - coding silent(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1933-1935)AAG>AAA		StAR-related lipid transfer (START) domain							103.0	85.0	91.0					X																	67940891		2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940891G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1935G>A	X.37:g.67940891G>A						STARD8_uc004dxb.2_Silent_p.K725K|STARD8_uc004dxc.3_Silent_p.K645K	p.K645K	NM_014725	NP_055540	Q92502	STAR8_HUMAN			8	2307	+			645			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1935G>A	CCDS14390.1																																																																																				PASS	0.557	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		30	17	30	17	---	---	---	---
ARR3	407	broad.mit.edu	37	X	69495998	69495998	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:69495998T>A	ENST00000307959.8	+	6	263	c.212T>A	c.(211-213)tTc>tAc	p.F71Y	ARR3_ENST00000374495.3_Missense_Mutation_p.F71Y	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	71					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.F71Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GGTCTGACGTTCCGAAAAGAT	0.537																																						uc004dyb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(211-213)TTC>TAC		arrestin 3, retinal (X-arrestin)							116.0	80.0	93.0					X																	69495998		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69495998T>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.212T>A	X.37:g.69495998T>A	ENSP00000311538:p.Phe71Tyr					ARR3_uc004dya.2_Missense_Mutation_p.F71Y	p.F71Y	NM_004312	NP_004303	P36575	ARRC_HUMAN			6	280	+			71					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.212T>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901891	0.72754	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.53640	0.61;0.61;0.61	4.23	4.23	0.50019	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.93150	3.385	0.44702	D	0.997699	D;D	0.89917	0.998;1.0	D;D	0.87578	0.99;0.998	T	0.80683	-0.1273	10	0.66056	D	0.02	4.8977	11.9648	0.53029	0.0:0.0:0.0:1.0	.	71;71	P36575;P36575-2	ARRC_HUMAN;.	Y	71;71;20;71	ENSP00000363619:F71Y;ENSP00000425505:F20Y;ENSP00000311538:F71Y	ENSP00000311538:F71Y	F	+	2	0	ARR3	69412723	1.000000	0.71417	0.724000	0.30704	0.586000	0.36452	5.298000	0.65710	1.474000	0.48178	0.441000	0.28932	TTC		PASS	0.537	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		11	10	11	10	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75004088	75004088	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:75004088G>C	ENST00000373359.2	-	1	991	c.799C>G	c.(799-801)Ctg>Gtg	p.L267V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	267	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L267V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAACTTCAGGGCTTCCATC	0.493																																						uc004ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(799-801)CTG>GTG		melanoma antigen family E, 2							63.0	63.0	63.0					X																	75004088		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004088G>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.799C>G	X.37:g.75004088G>C	ENSP00000362457:p.Leu267Val						p.L267V	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	984	-			267			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.799C>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651890	0.47362	.	.	ENSG00000186675	ENST00000373359	T	0.17370	2.28	3.1	3.1	0.35709	.	.	.	.	.	T	0.41351	0.1155	M	0.83774	2.66	0.26239	N	0.978903	D	0.63880	0.993	D	0.73708	0.981	T	0.10823	-1.0613	9	0.72032	D	0.01	.	8.7766	0.34765	0.0:0.0:1.0:0.0	.	267	Q8TD90	MAGE2_HUMAN	V	267	ENSP00000362457:L267V	ENSP00000362457:L267V	L	-	1	2	MAGEE2	74920813	1.000000	0.71417	0.965000	0.40720	0.821000	0.46438	1.615000	0.36922	1.800000	0.52685	0.422000	0.28245	CTG		PASS	0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		32	25	32	25	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79975093	79975093	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:79975093G>C	ENST00000373275.4	-	18	2155	c.1939C>G	c.(1939-1941)Ctt>Gtt	p.L647V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	647					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.L647V(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTCCATCAAGAATGCTCTCA	0.393																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1939-1941)CTT>GTT		bromodomain and WD repeat domain containing 3							192.0	159.0	171.0					X																	79975093		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79975093G>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1939C>G	X.37:g.79975093G>C	ENSP00000362372:p.Leu647Val					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.L243V|BRWD3_uc004edp.2_Missense_Mutation_p.L476V|BRWD3_uc004edq.2_Missense_Mutation_p.L243V|BRWD3_uc010nmj.1_Missense_Mutation_p.L243V|BRWD3_uc004edr.2_Missense_Mutation_p.L317V|BRWD3_uc004eds.2_Missense_Mutation_p.L243V|BRWD3_uc004edu.2_Missense_Mutation_p.L317V|BRWD3_uc004edv.2_Missense_Mutation_p.L243V|BRWD3_uc004edw.2_Missense_Mutation_p.L243V|BRWD3_uc004edx.2_Missense_Mutation_p.L243V|BRWD3_uc004edy.2_Missense_Mutation_p.L243V|BRWD3_uc004edz.2_Missense_Mutation_p.L317V|BRWD3_uc004eea.2_Missense_Mutation_p.L317V|BRWD3_uc004eeb.2_Missense_Mutation_p.L243V	p.L647V	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			18	2202	-			647					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1939C>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862522	0.71949	.	.	ENSG00000165288	ENST00000373275	T	0.59364	0.27	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.77486	2.375	0.43603	D	0.99596	D	0.89917	1.0	D	0.77557	0.99	T	0.78183	-0.2303	9	.	.	.	-14.8886	17.6771	0.88233	0.0:0.0:1.0:0.0	.	647	Q6RI45	BRWD3_HUMAN	V	647	ENSP00000362372:L647V	.	L	-	1	0	BRWD3	79861749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.903000	0.75703	2.361000	0.80049	0.600000	0.82982	CTT		PASS	0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		9	64	9	64	---	---	---	---
CHM	1121	broad.mit.edu	37	X	85158697	85158697	+	Intron	SNP	G	G	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:85158697G>A	ENST00000357749.2	-	10	1274				CHM_ENST00000537751.1_Intron|MIR361_ENST00000362181.1_RNA|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				tacccctggagattctgatAA	0.428																																						hsa-mir-361|MI0000760																			0					0															70.0	65.0	66.0					X																	85158697		1568	3581	5149	SO:0001627	intron_variant	494323							g.chrX:85158697G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1245-2504C>T	X.37:g.85158697G>A						CHM_uc004eet.2_Intron|CHM_uc011mqz.1_Intron										-								A1L4D2|O43732	RNA	SNP	ENST00000357749.2	37	c.16G>A	CCDS14454.1																																																																																				PASS	0.428	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		3	32	3	32	---	---	---	---
BEX4	56271	broad.mit.edu	37	X	102471255	102471255	+	Silent	SNP	T	T	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:102471255T>C	ENST00000372695.5	+	3	409	c.174T>C	c.(172-174)ctT>ctC	p.L58L	BEX4_ENST00000372691.3_Silent_p.L58L	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	58						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L384L(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						TTAGGCGACTTGTCCCTAATT	0.507																																						uc004ejv.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(172-174)CTT>CTC		BEX family member 4							93.0	85.0	87.0					X																	102471255		2203	4300	6503	SO:0001819	synonymous_variant	56271					cytoplasm|nucleus		g.chrX:102471255T>C	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.174T>C	X.37:g.102471255T>C						BEX4_uc004ejw.3_Silent_p.L58L	p.L58L	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN			3	409	+			58						Silent	SNP	ENST00000372695.5	37	c.174T>C	CCDS35355.1																																																																																				PASS	0.507	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		24	12	24	12	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105189947	105189947	+	Silent	SNP	A	A	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:105189947A>T	ENST00000243300.9	+	25	4446	c.4143A>T	c.(4141-4143)gcA>gcT	p.A1381A	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Silent_p.A1382A	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1381	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A1382A(1)|p.A1381A(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAATACAGGCAGCTGATCCAG	0.433										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(4141-4143)GCA>GCT		Nik related kinase							99.0	85.0	90.0					X																	105189947		1887	4114	6001	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105189947A>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4143A>T	X.37:g.105189947A>T		HNSCC(51;0.14)				NRK_uc011msi.1_5'Flank	p.A1381A	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			25	4446	+			1381			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.4143A>T																																																																																					PASS	0.433	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		9	10	9	10	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110490677	110490677	+	Silent	SNP	G	G	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:110490677G>T	ENST00000324068.1	-	12	1829	c.1662C>A	c.(1660-1662)gtC>gtA	p.V554V	CAPN6_ENST00000541758.1_Silent_p.V299V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	554	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.V554V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TATTCTTCTGGACAGGAGAAC	0.413																																						uc004epc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1660-1662)GTC>GTA		calpain 6							154.0	132.0	140.0					X																	110490677		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110490677G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1662C>A	X.37:g.110490677G>T						CAPN6_uc011msu.1_Silent_p.V299V	p.V554V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			12	1830	-			554			C2.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1662C>A	CCDS14555.1																																																																																				PASS	0.413	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			54	45	54	45	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117731471	117731471	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:117731471C>A	ENST00000276202.7	+	21	2404	c.2341C>A	c.(2341-2343)Ctt>Att	p.L781I	DOCK11_ENST00000276204.6_Missense_Mutation_p.L781I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	781	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L781I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCCGCCAATCTTCCCCCAGG	0.403																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2341-2343)CTT>ATT		dedicator of cytokinesis 11							103.0	93.0	96.0					X																	117731471		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117731471C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2341C>A	X.37:g.117731471C>A	ENSP00000276202:p.Leu781Ile					DOCK11_uc004eqq.2_Missense_Mutation_p.L547I	p.L781I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			21	2404	+			781			DHR-1.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2341C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144198	0.77888	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.15017	2.46;2.46	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.79614	2.46	0.49582	D	0.999804	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32534	-0.9903	10	0.72032	D	0.01	-6.3487	11.0318	0.47779	0.0:0.9134:0.0:0.0866	.	781;781	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	781	ENSP00000276204:L781I;ENSP00000276202:L781I	ENSP00000276202:L781I	L	+	1	0	DOCK11	117615499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.652000	0.61454	2.422000	0.82143	0.600000	0.82982	CTT		PASS	0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		4	143	4	143	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118986805	118986805	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:118986805G>C	ENST00000276201.2	-	1	156	c.87C>G	c.(85-87)acC>acG	p.T29T	UPF3B_ENST00000345865.2_Silent_p.T29T	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	29					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T29T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TGTCCCCCGAGGTCCCACCAC	0.642																																						uc004erz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(85-87)ACC>ACG		UPF3 regulator of nonsense transcripts homolog B							131.0	117.0	122.0					X																	118986805		2203	4300	6503	SO:0001819	synonymous_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118986805G>C	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.87C>G	X.37:g.118986805G>C						UPF3B_uc004esa.1_Silent_p.T29T	p.T29T	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			1	164	-			29					D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	c.87C>G	CCDS14588.1																																																																																				PASS	0.642	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			67	139	67	139	---	---	---	---
TMEM255A	55026	broad.mit.edu	37	X	119394785	119394785	+	Silent	SNP	C	C	A	rs138279635		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:119394785C>A	ENST00000309720.5	-	10	1113	c.990G>T	c.(988-990)ccG>ccT	p.P330P	TMEM255A_ENST00000371369.4_Silent_p.P306P|TMEM255A_ENST00000371352.1_Silent_p.P166P|TMEM255A_ENST00000440464.1_Silent_p.P222P	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	330	Pro-rich.					integral component of membrane (GO:0016021)		p.P330P(1)									AGTAACGGGGCGGTGCACTTG	0.527																																						uc004eso.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(988-990)CCG>CCT		hypothetical protein LOC55026 isoform 1							127.0	103.0	111.0					X																	119394785		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119394785C>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.990G>T	X.37:g.119394785C>A						FAM70A_uc004esp.3_Silent_p.P306P|FAM70A_uc010nqo.2_Silent_p.P222P	p.P330P	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			10	1217	-			330			Pro-rich.		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.990G>T	CCDS14597.1																																																																																				PASS	0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		24	42	24	42	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123196827	123196827	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:123196827C>T	ENST00000371160.1	+	18	2004	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	STAG2_ENST00000371144.3_Missense_Mutation_p.P572S|STAG2_ENST00000371145.3_Missense_Mutation_p.P572S|STAG2_ENST00000218089.9_Missense_Mutation_p.P572S|STAG2_ENST00000371157.3_Missense_Mutation_p.P572S|STAG2_ENST00000354548.5_Missense_Mutation_p.P503S|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	572					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.P572S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGTGGCCCTTCCTCAGTTATT	0.363																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1714-1716)CCT>TCT		stromal antigen 2 isoform b							100.0	89.0	93.0					X																	123196827		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123196827C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1714C>T	X.37:g.123196827C>T	ENSP00000360202:p.Pro572Ser					STAG2_uc004eua.2_Missense_Mutation_p.P572S|STAG2_uc004eub.2_Missense_Mutation_p.P572S|STAG2_uc004euc.2_Missense_Mutation_p.P572S|STAG2_uc004eud.2_Missense_Mutation_p.P572S|STAG2_uc004eue.2_Missense_Mutation_p.P572S	p.P572S	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			17	2053	+			572					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1714C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069525	0.93950	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.19582	-1.0301	9	.	.	.	-6.609	18.9778	0.92745	0.0:1.0:0.0:0.0	.	572;572	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	S	572;503;572;572;572;572	ENSP00000218089:P572S;ENSP00000346555:P503S;ENSP00000360202:P572S;ENSP00000360199:P572S;ENSP00000360187:P572S;ENSP00000360186:P572S	.	P	+	1	0	STAG2	123024508	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.817000	0.86213	2.430000	0.82344	0.544000	0.68410	CCT		PASS	0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		59	18	59	18	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128657245	128657245	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:128657245G>C	ENST00000371122.4	-	1	232	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	SMARCA1_ENST00000371123.1_Missense_Mutation_p.Q35E|SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371121.3_Missense_Mutation_p.Q35E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	35					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q35E(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CCCTCCTCCTGAGAGGTGGAC	0.677																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(103-105)CAG>GAG		SWI/SNF-related matrix-associated							112.0	98.0	103.0					X																	128657245		2200	4298	6498	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657245G>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.103C>G	X.37:g.128657245G>C	ENSP00000360163:p.Gln35Glu					SMARCA1_uc004eup.3_Missense_Mutation_p.Q35E|SMARCA1_uc011muk.1_Missense_Mutation_p.Q35E|SMARCA1_uc011mul.1_Missense_Mutation_p.Q35E	p.Q35E	NM_003069	NP_003060	P28370	SMCA1_HUMAN			1	216	-			35					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.103C>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993270	0.02145	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.90844	-2.7;-2.7;-2.7;-2.74	2.94	0.118	0.14667	.	.	.	.	.	T	0.76407	0.3983	N	0.14661	0.345	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.60969	-0.7157	9	0.05721	T	0.95	-4.3588	6.3789	0.21523	0.0:0.0:0.5371:0.4629	.	35;35;35;35	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	E	35	ENSP00000360162:Q35E;ENSP00000360164:Q35E;ENSP00000360163:Q35E;ENSP00000404275:Q35E	ENSP00000360162:Q35E	Q	-	1	0	SMARCA1	128484926	0.444000	0.25649	0.997000	0.53966	0.963000	0.63663	0.357000	0.20199	0.240000	0.21263	-0.616000	0.04050	CAG		PASS	0.677	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		53	108	53	108	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152159171	152159171	+	Silent	SNP	G	G	C			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:152159171G>C	ENST00000439251.1	-	2	1410	c.972C>G	c.(970-972)ctC>ctG	p.L324L	PNMA5_ENST00000361887.5_Silent_p.L324L|PNMA5_ENST00000535214.1_Silent_p.L324L|PNMA5_ENST00000452693.1_Silent_p.L324L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	324					positive regulation of apoptotic process (GO:0043065)			p.L324L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTCGAATGAGCTTCATTA	0.562																																						uc010ntw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(970-972)CTC>CTG		paraneoplastic antigen like 5							42.0	42.0	42.0					X																	152159171		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159171G>C	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.972C>G	X.37:g.152159171G>C						PNMA5_uc004fha.3_Silent_p.L324L|PNMA5_uc010ntx.2_Silent_p.L324L|PNMA5_uc004fgy.3_Silent_p.L324L	p.L324L	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	1311	-	Acute lymphoblastic leukemia(192;6.56e-05)		324					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.972C>G	CCDS14718.1																																																																																				PASS	0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		53	19	53	19	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153072813	153072813	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:153072813C>A	ENST00000164640.4	-	3	499	c.308G>T	c.(307-309)aGc>aTc	p.S103I	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Missense_Mutation_p.S28I|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	103						cytoplasm (GO:0005737)		p.S103I(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATACTCATGGCTGATTGGGGG	0.657																																						uc004fiz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(307-309)AGC>ATC		PDZ domain containing 4							20.0	20.0	20.0					X																	153072813		2196	4294	6490	SO:0001583	missense	57595					cell cortex		g.chrX:153072813C>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.308G>T	X.37:g.153072813C>A	ENSP00000164640:p.Ser103Ile					PDZD4_uc004fiy.1_Missense_Mutation_p.S28I|PDZD4_uc004fix.2_Missense_Mutation_p.S7I|PDZD4_uc004fja.1_Missense_Mutation_p.S109I|PDZD4_uc011mze.1_Intron	p.S103I	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			3	558	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		103					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.308G>T	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549746	0.45383	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633	T;T	0.04603	3.6;3.59	5.57	4.7	0.59300	PDZ/DHR/GLGF (1);	0.221905	0.31519	U	0.007506	T	0.03434	0.0099	N	0.08118	0	0.32546	N	0.533031	B;B;B;B	0.31730	0.105;0.167;0.337;0.203	B;B;B;B	0.32149	0.042;0.054;0.04;0.141	T	0.18398	-1.0338	10	0.56958	D	0.05	-32.7604	12.8449	0.57823	0.0:0.917:0.0:0.083	.	109;103;28;7	Q17RL8;Q76G19;D3DWW0;B3KVR9	.;PDZD4_HUMAN;.;.	I	103;28;7	ENSP00000164640:S103I;ENSP00000377355:S28I	ENSP00000164640:S103I	S	-	2	0	PDZD4	152726007	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.377000	0.34317	1.073000	0.40885	0.600000	0.82982	AGC		PASS	0.657	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		6	2	6	2	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153295970	153295970	+	Missense_Mutation	SNP	G	G	C	rs61753972		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrX:153295970G>C	ENST00000303391.6	-	4	1558	c.1309C>G	c.(1309-1311)Cag>Gag	p.Q437E	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.Q449E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	437					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.Q437E(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCGGGCTGAGTCTTAGCT	0.607																																						uc004fjv.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CD003535	MECP2	D	rs61753972	c.(1309-1311)CAG>GAG		methyl CpG binding protein 2 isoform 1							150.0	140.0	143.0					X																	153295970		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153295970G>C	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1309C>G	X.37:g.153295970G>C	ENSP00000301948:p.Gln437Glu					MECP2_uc004fjw.2_Missense_Mutation_p.Q449E	p.Q437E	NM_004992	NP_004983	P51608	MECP2_HUMAN			4	1535	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		437					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.1309C>G	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813783	0.50527	.	.	ENSG00000169057	ENST00000303391;ENST00000453960	D;D	0.89617	-2.54;-2.53	5.48	5.48	0.80851	.	0.465373	0.23450	N	0.048046	D	0.85173	0.5636	N	0.24115	0.695	0.80722	D	1	P;P	0.49783	0.928;0.882	P;B	0.46975	0.533;0.332	D	0.84365	0.0540	10	0.29301	T	0.29	-18.597	17.0205	0.86432	0.0:0.0:1.0:0.0	.	449;437	P51608-2;P51608	.;MECP2_HUMAN	E	437;449	ENSP00000301948:Q437E;ENSP00000395535:Q449E	ENSP00000301948:Q437E	Q	-	1	0	MECP2	152949164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.756000	0.85195	2.282000	0.76494	0.513000	0.50165	CAG		PASS	0.607	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		6	375	6	375	---	---	---	---
ZFY	7544	broad.mit.edu	37	Y	2843674	2843674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrY:2843674C>T	ENST00000155093.3	+	5	1228	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	ZFY_ENST00000449237.1_Nonsense_Mutation_p.Q277*|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000383052.1_Nonsense_Mutation_p.Q303*|ZFY_ENST00000431102.1_Nonsense_Mutation_p.Q112*	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	303					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.Q303*(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CAATGACTCTCAACAAGAAGA	0.348																																						uc004fqj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(907-909)CAA>TAA		zinc finger protein, Y-linked isoform 1																																				SO:0001587	stop_gained	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2843674C>T	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.907C>T	Y.37:g.2843674C>T	ENSP00000155093:p.Gln303*					ZFY_uc010nwd.1_Nonsense_Mutation_p.Q303*|ZFY_uc011nan.1_Nonsense_Mutation_p.Q112*|ZFY_uc010nwe.2_Nonsense_Mutation_p.Q277*	p.Q303*	NM_003411	NP_003402	P08048	ZFY_HUMAN			5	1228	+			303					B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Nonsense_Mutation	SNP	ENST00000155093.3	37	c.907C>T	CCDS14774.1																																																																																				PASS	0.348	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		28	57	28	57	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4967431	4967431	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chrY:4967431C>A	ENST00000333703.4	+	5	2292	c.1779C>A	c.(1777-1779)caC>caA	p.H593Q	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H604Q|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H604Q	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	604	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H604Q(2)|p.H593Q(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTCACTCACAATGAATACA	0.393																																						uc004fqo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1810-1812)CAC>CAA		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967431C>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1779C>A	Y.37:g.4967431C>A	ENSP00000330552:p.His593Gln					PCDH11Y_uc010nwg.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fql.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fqm.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fqn.1_Missense_Mutation_p.H604Q|PCDH11Y_uc004fqp.1_Missense_Mutation_p.H375Q	p.H604Q	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	2546	+			604			Extracellular (Potential).|Cadherin 6.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1812C>A	CCDS14776.1																																																																																				PASS	0.393	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		79	26	79	26	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1424694	1424694	+	Frame_Shift_Del	DEL	G	G	-	rs376424291		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr3:1424694delG	ENST00000446702.2	+	18	2862	c.2235delG	c.(2233-2235)tcgfs	p.S745fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.S745fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.S673fs			Q9UQ52	CNTN6_HUMAN	contactin 6	745	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGGGCTCGACAACCTGGT	0.453																																						uc003boz.2																			0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2233-2235)TCGfs		contactin 6 precursor							143.0	131.0	135.0					3																	1424694		2203	4300	6503	SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424694delG	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2235delG	3.37:g.1424694delG	ENSP00000407822:p.Ser745fs					CNTN6_uc011asj.1_Frame_Shift_Del_p.S673fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.S745fs	p.S745fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2502	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	745			Fibronectin type-III 2.		Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	c.2235delG	CCDS2557.1																																																																																					0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		43	49	43	49	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140340	96140340	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr4:96140340delG	ENST00000453304.1	-	9	1773	c.1425delC	c.(1423-1425)cccfs	p.P475fs	UNC5C_ENST00000506749.1_Frame_Shift_Del_p.P494fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	475					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.P475P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTTCAGGTTGGGCAGTGGAT	0.517																																						uc003htp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1423-1425)CCCfs		unc5C precursor							324.0	304.0	310.0					4																	96140340		2203	4300	6503	SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140340delG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1425delC	4.37:g.96140340delG	ENSP00000406022:p.Pro475fs					UNC5C_uc010ilc.1_Frame_Shift_Del_p.P494fs|UNC5C_uc003htq.2_Frame_Shift_Del_p.P494fs	p.P475fs	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1579	-		Hepatocellular(203;0.114)	475			Cytoplasmic (Potential).		Q8IUT0	Frame_Shift_Del	DEL	ENST00000453304.1	37	c.1425delC	CCDS3643.1																																																																																					0.517	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		179	196	179	196	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						uc003nns.2																			0					0								Homo sapiens clone HCG IV.9 unknown mRNA.																																						54435							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA						uc010jrm.1_In_Frame_Del_p.AGAVDGA111del|uc003nnt.2_In_Frame_Del_p.RAPWMEQ147del|uc011dma.1_5'Flank		NR_002139						1		-									RNA	DEL	ENST00000457107.1	37	c.478_498delTGCTCCATCCACGGCGCCCGC																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4	2	4	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152265522	152265522	+	Frame_Shift_Del	DEL	G	G	-	rs1801132	byFrequency	TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr6:152265522delG	ENST00000206249.3	+	4	1337	c.975delG	c.(973-975)ccgfs	p.P325fs	ESR1_ENST00000427531.2_Frame_Shift_Del_p.P152fs|ESR1_ENST00000338799.5_Frame_Shift_Del_p.P325fs|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000440973.1_Frame_Shift_Del_p.P325fs|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Frame_Shift_Del_p.P325fs	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	325	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTGAGCCCCCGATACTCTATT	0.547																																						uc003qom.3																			0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5	GRCh37	CM016108	ESR1	M	rs1801132	c.(973-975)CCCfs		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						113.0	105.0	108.0					6																	152265522		2203	4300	6503	SO:0001589	frameshift_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265522delG	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.975delG	6.37:g.152265522delG	ENSP00000206249:p.Pro325fs					ESR1_uc010kin.2_Frame_Shift_Del_p.P325fs|ESR1_uc010kio.2_Frame_Shift_Del_p.P327fs|ESR1_uc010kip.2_Frame_Shift_Del_p.P324fs|ESR1_uc003qon.3_Frame_Shift_Del_p.P325fs|ESR1_uc003qoo.3_Frame_Shift_Del_p.P325fs|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Frame_Shift_Del_p.P106fs|ESR1_uc010kit.1_Frame_Shift_Del_p.P62fs|ESR1_uc011eey.1_Frame_Shift_Del_p.P62fs	p.P325fs	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1345	+		Ovarian(120;0.0448)	325			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Frame_Shift_Del	DEL	ENST00000206249.3	37	c.975delG	CCDS5234.1																																																																																					0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			87	72	87	72	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36580015	36580015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr7:36580015delG	ENST00000258749.5	-	16	1615	c.1216delC	c.(1216-1218)cacfs	p.H406fs	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000431169.1_Frame_Shift_Del_p.H406fs|AOAH_ENST00000535891.1_Frame_Shift_Del_p.H374fs|AOAH_ENST00000538464.1_Frame_Shift_Del_p.H128fs	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	406					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTGGGCAGGTGGGAATTTAGA	0.458																																						uc003tfh.3																			0				skin(1)	1						c.(1216-1218)CACfs		acyloxyacyl hydrolase precursor							124.0	110.0	115.0					7																	36580015		2203	4300	6503	SO:0001589	frameshift_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36580015delG	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1216delC	7.37:g.36580015delG	ENSP00000258749:p.His406fs					AOAH_uc010kxf.2_Frame_Shift_Del_p.H406fs|AOAH_uc011kba.1_Frame_Shift_Del_p.H374fs	p.H406fs	NM_001637	NP_001628	P28039	AOAH_HUMAN			16	1617	-			406					A4D1Y5|B7Z490|Q53F13	Frame_Shift_Del	DEL	ENST00000258749.5	37	c.1216delC	CCDS5448.1																																																																																					0.458	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		34	62	34	62	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41542170	41542171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr8:41542170_41542171insA	ENST00000347528.4	-	37	4511_4512	c.4428_4429insT	c.(4426-4431)cgtggcfs	p.G1477fs	ANK1_ENST00000396942.1_Frame_Shift_Ins_p.G1477fs|ANK1_ENST00000352337.4_Frame_Shift_Ins_p.G1477fs|ANK1_ENST00000289734.7_Frame_Shift_Ins_p.G1477fs|ANK1_ENST00000265709.8_Frame_Shift_Ins_p.G1518fs|ANK1_ENST00000379758.2_Frame_Shift_Ins_p.G1477fs|ANK1_ENST00000396945.1_Frame_Shift_Ins_p.G1477fs	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1477	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGATCTCGCCACGGTCAATGC	0.609																																						uc003xok.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4426-4431)CGTGGCfs		ankyrin 1 isoform 1																																				SO:0001589	frameshift_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41542170_41542171insA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4429dupT	8.37:g.41542171_41542171dupA	ENSP00000339620:p.Gly1477fs					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Frame_Shift_Ins_p.R792fs|ANK1_uc003xoi.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xoj.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xol.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xom.2_Frame_Shift_Ins_p.R1517fs	p.R1476fs	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		37	4512_4513	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1476_1477			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Ins	INS	ENST00000347528.4	37	c.4428_4429insT	CCDS6119.1																																																																																					0.609	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		143	103	143	103	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118202596	118202596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr10:118202596delC	ENST00000369230.3	+	3	380	c.234delC	c.(232-234)atcfs	p.I78fs		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	78					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTCAACTATCCAAGCCTCAT	0.353																																						uc001lcl.3																			0				ovary(1)	1						c.(232-234)ATCfs		pancreatic lipase-related protein 3 precursor							87.0	79.0	82.0					10																	118202596		2203	4300	6503	SO:0001589	frameshift_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118202596delC	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.234delC	10.37:g.118202596delC	ENSP00000358232:p.Ile78fs						p.I78fs	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	3	335	+			78						Frame_Shift_Del	DEL	ENST00000369230.3	37	c.234delC	CCDS31292.1																																																																																					0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		28	17	28	17	---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6942481	6942482	+	Frame_Shift_Ins	INS	-	-	T	rs572998459		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr11:6942481_6942482insT	ENST00000317834.3	+	1	277_278	c.249_250insT	c.(250-252)tttfs	p.F84fs		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S83S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAAATCTCTCCTTTGCAGATCT	0.406																																						uc010rav.1																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(247-252)TCCTTTfs		olfactory receptor, family 2, subfamily D,																																				SO:0001589	frameshift_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942481_6942482insT	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.252dupT	11.37:g.6942484_6942484dupT	ENSP00000320560:p.Phe84fs						p.S83fs	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	249_250	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	83_84			Helical; Name=2; (Potential).		B2RP06|Q6IFG8|Q96R51	Frame_Shift_Ins	INS	ENST00000317834.3	37	c.249_250insT	CCDS31417.1																																																																																					0.406	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		129	59	129	59	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20890118	20890118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:20890118delG	ENST00000266509.2	+	11	1828	c.1460delG	c.(1459-1461)tggfs	p.W487fs	SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.W438fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.W369fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.W487fs|SLCO1C1_ENST00000381552.1_Frame_Shift_Del_p.W487fs	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	487	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GAGACAAAATGGGAACCCATG	0.373																																						uc001rej.3																			0				ovary(5)|pancreas(1)|skin(1)	7						c.(1459-1461)TGGfs		solute carrier organic anion transporter family,							103.0	95.0	98.0					12																	20890118		2203	4300	6503	SO:0001589	frameshift_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890118delG	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1460delG	12.37:g.20890118delG	ENSP00000266509:p.Trp487fs					SLCO1C1_uc010sii.1_Frame_Shift_Del_p.W487fs|SLCO1C1_uc010sij.1_Frame_Shift_Del_p.W438fs|SLCO1C1_uc009zip.2_Frame_Shift_Del_p.W321fs|SLCO1C1_uc001rei.2_Frame_Shift_Del_p.W487fs|SLCO1C1_uc010sik.1_Frame_Shift_Del_p.W369fs	p.W487fs	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			12	1815	+	Esophageal squamous(101;0.149)		487			Extracellular (Potential).|Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Frame_Shift_Del	DEL	ENST00000266509.2	37	c.1460delG	CCDS8683.1																																																																																					0.373	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		73	134	73	134	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41967593	41967593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:41967593delG	ENST00000402685.2	+	10	3020	c.3012delG	c.(3010-3012)ttgfs	p.L1004fs	PDZRN4_ENST00000298919.7_Frame_Shift_Del_p.L744fs|PDZRN4_ENST00000539469.2_Frame_Shift_Del_p.L746fs	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1004							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAAATTTTGGACAACTGGA	0.458																																						uc010skn.1																			0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2413-2415)TTGfs		PDZ domain containing RING finger 4 isoform 2							56.0	53.0	54.0					12																	41967593		2203	4300	6503	SO:0001589	frameshift_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967593delG	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.3012delG	12.37:g.41967593delG	ENSP00000384197:p.Leu1004fs					PDZRN4_uc001rmq.3_Frame_Shift_Del_p.L746fs|PDZRN4_uc009zjz.2_Frame_Shift_Del_p.L744fs|PDZRN4_uc001rmr.2_Frame_Shift_Del_p.L631fs	p.L805fs	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2483	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	1004					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Frame_Shift_Del	DEL	ENST00000402685.2	37	c.2415delG	CCDS53777.1																																																																																					0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		46	30	46	30	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52761001	52761001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr12:52761001delC	ENST00000257901.3	-	1	264	c.189delG	c.(187-189)gggfs	p.G63fs	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	63	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTATCCGGGGCCCGCAGGAGC	0.711																																						uc001sag.2																			0				ovary(1)	1						c.(187-189)GGGfs		keratin 85							19.0	25.0	23.0					12																	52761001		2201	4294	6495	SO:0001589	frameshift_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52761001delC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.189delG	12.37:g.52761001delC	ENSP00000257901:p.Gly63fs						p.G63fs	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	309	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		63			Head.		Q9NSB1	Frame_Shift_Del	DEL	ENST00000257901.3	37	c.189delG	CCDS8824.1																																																																																					0.711	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		54	30	54	30	---	---	---	---
ACTG1P17	283693	broad.mit.edu	37	15	83395495	83395502	+	RNA	DEL	ACGGCAGT	ACGGCAGT	-	rs191215115		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr15:83395495_83395502delACGGCAGT	ENST00000560958.1	-	0	784_791				AC105339.2_ENST00000577648.1_RNA	NR_036446.1																						GGAAGAGGACACGGCAGTGGCCATCTCC	0.577																																						uc002bjb.2																			0											c.(331-339)ACTGCCGTGfs		Homo sapiens actin, gamma pseudogene, mRNA (cDNA clone IMAGE:4866674), with apparent retained intron.																																						0							g.chr15:83395495_83395502delACGGCAGT																													15.37:g.83395495_83395502delACGGCAGT							p.T111fs							3	800_807	-									Frame_Shift_Del	DEL	ENST00000560958.1	37	c.331_338delACTGCCGT																																																																																						0.577	RP11-752G15.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418414.1			6	3	6	3	---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44060961	44060961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:44060961delC	ENST00000571987.1	+	5	791	c.791delC	c.(790-792)gccfs	p.A264fs	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Frame_Shift_Del_p.A264fs|MAPT_ENST00000262410.5_Frame_Shift_Del_p.A264fs|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Frame_Shift_Del_p.A264fs|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	264					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GCGGAGGGTGCCATCCCCCTC	0.667																																						uc002ijr.3																			0				pancreas(1)	1						c.(790-792)GCCfs		microtubule-associated protein tau isoform 1							31.0	29.0	30.0					17																	44060961		2202	4298	6500	SO:0001589	frameshift_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060961delC	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.791delC	17.37:g.44060961delC	ENSP00000458742:p.Ala264fs					MAPT_uc010dau.2_Frame_Shift_Del_p.A264fs|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.A264fs	NM_016835	NP_058519	P10636	TAU_HUMAN			6	1111	+		Melanoma(429;0.216)	264					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Frame_Shift_Del	DEL	ENST00000571987.1	37	c.791delC	CCDS11501.1																																																																																					0.667	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		45	39	45	39	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79220444	79220444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr17:79220444delC	ENST00000374759.3	-	16	2655	c.2272delG	c.(2272-2274)gtgfs	p.V758fs		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	758					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCTGGGCACCGCTGCCCCG	0.627																																						uc002jzz.1																			0				pancreas(1)|skin(1)	2						c.(2272-2274)GTGfs		solute carrier family 38, member 10 isoform a							55.0	60.0	58.0					17																	79220444		1988	4092	6080	SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220444delC	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.2272delG	17.37:g.79220444delC	ENSP00000363891:p.Val758fs					SLC38A10_uc002jzy.1_Frame_Shift_Del_p.V676fs	p.V758fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	2647	-	all_neural(118;0.0804)|Melanoma(429;0.242)		758					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.2272delG	CCDS42397.1																																																																																					0.627	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		163	100	163	100	---	---	---	---
OVOL2	58495	broad.mit.edu	37	20	18022309	18022309	+	Frame_Shift_Del	DEL	C	C	-	rs375022280		TCGA-22-5473-01A-01D-1632-08	TCGA-22-5473-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c107ca1d-5e35-470a-8c39-80dc7624e306	6dc5dbe8-5126-428e-b5e4-9514747bd33a	g.chr20:18022309delC	ENST00000278780.6	-	3	622	c.380delG	c.(379-381)ggcfs	p.G127fs	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	127					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CAGACGGAAGCCCTTGCCACA	0.617																																						uc002wqi.1																			0				central_nervous_system(1)	1						c.(379-381)GGCfs		zinc finger protein 339							120.0	80.0	94.0					20																	18022309		2203	4300	6503	SO:0001589	frameshift_variant	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18022309delC	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.380delG	20.37:g.18022309delC	ENSP00000278780:p.Gly127fs						p.G127fs	NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN			3	623	-			127			C2H2-type 1.		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Frame_Shift_Del	DEL	ENST00000278780.6	37	c.380delG	CCDS13132.1																																																																																					0.617	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		30	34	30	34	---	---	---	---
