#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PLEKHG5	57449	broad.mit.edu	37	1	6528318	6528318	+	Missense_Mutation	SNP	G	G	A	rs557256913		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:6528318G>A	ENST00000400915.3	-	21	2812	c.2746C>T	c.(2746-2748)Cgc>Tgc	p.R916C	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R860C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377740.3_Intron|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R897C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R860C|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R860C|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R929C|TNFRSF25_ENST00000351748.3_5'Flank|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.R937C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R939C	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	916					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.R937C(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGCGGCGGCGGAGACGG	0.677																																						uc001ano.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)	1						c.(2746-2748)CGC>TGC		pleckstrin homology domain containing family G							12.0	17.0	15.0					1																	6528318		2188	4279	6467	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6528318G>A	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2746C>T	1.37:g.6528318G>A	ENSP00000383706:p.Arg916Cys					PLEKHG5_uc001ann.1_Missense_Mutation_p.R897C|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.R937C|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R421C|PLEKHG5_uc009vma.1_Missense_Mutation_p.R700C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R929C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R860C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anr.1_Missense_Mutation_p.R123C	p.R916C	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	21	2847	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	916					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2746C>T	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281558	0.59758	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.42;-0.41;-0.42;-0.41	4.8	4.8	0.61643	.	0.115575	0.56097	D	0.000039	T	0.68732	0.3033	L	0.32530	0.975	0.53688	D	0.99997	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.59703	0.862;0.851;0.862;0.732	T	0.71761	-0.4495	10	0.87932	D	0	-29.6646	11.7899	0.52063	0.0:0.0:0.8242:0.1757	.	929;860;937;916	F5GZ21;O94827-4;O94827-2;O94827	.;.;.;PKHG5_HUMAN	C	937;860;860;916;897;860;860;929;860;766;939;860	ENSP00000366977:R937C;ENSP00000344570:R860C;ENSP00000383704:R860C;ENSP00000383706:R916C;ENSP00000366961:R897C;ENSP00000366957:R860C;ENSP00000366954:R860C;ENSP00000441445:R929C;ENSP00000366966:R860C;ENSP00000439625:R939C;ENSP00000437710:R860C	ENSP00000344570:R860C	R	-	1	0	PLEKHG5	6450905	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.106000	0.50322	2.490000	0.84030	0.557000	0.71058	CGC		0.677	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1		NM_020631		5	10	0	0	0	0.021553	0	5	10		
MACF1	23499	broad.mit.edu	37	1	39913530	39913530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:39913530G>C	ENST00000372915.3	+	81	19712	c.19625G>C	c.(19624-19626)aGa>aCa	p.R6542T	MACF1_ENST00000361689.2_Missense_Mutation_p.R4584T|MACF1_ENST00000564288.1_Missense_Mutation_p.R6643T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584T|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4454T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6542					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4584T(1)|p.R5086T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448																																						uc010oiu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(15256-15258)AGA>ACA		microfilament and actin filament cross-linker							98.0	93.0	95.0					1																	39913530		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39913530G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19625G>C	1.37:g.39913530G>C	ENSP00000362006:p.Arg6542Thr					MACF1_uc010ois.1_Missense_Mutation_p.R4584T	p.R5086T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		47	15388	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6652			Spectrin 15.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15257G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126622|5.126622	0.94429|0.94429	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.60920	.|0.15;0.15;0.15;0.15;0.15;0.15	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.81254|0.81254	0.4784|0.4784	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.997;1.0	T|T	0.82692|0.82692	-0.0331|-0.0331	5|10	.|0.87932	.|D	.|0	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6542;4584	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	N|T	3587|4584;6542;4584;4584;4454;5086	.|ENSP00000439537:R4584T;ENSP00000362006:R6542T;ENSP00000354573:R4584T;ENSP00000313438:R4584T;ENSP00000444364:R4454T;ENSP00000289893:R5086T	.|ENSP00000289893:R5086T	K|R	+|+	3|2	2|0	MACF1|MACF1	39686117|39686117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		15	46	0	0	0	0.024245	0	15	46		
LEPRE1	64175	broad.mit.edu	37	1	43215938	43215938	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43215938G>A	ENST00000296388.5	-	11	1690	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	LEPRE1_ENST00000236040.4_Missense_Mutation_p.R547C|LEPRE1_ENST00000397054.3_Missense_Mutation_p.R547C|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	547					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.R547C(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCATGATGCGCCGCACCTTC	0.582																																						uc001chv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)	4						c.(1639-1641)CGC>TGC		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						139.0	111.0	121.0					1																	43215938		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43215938G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1639C>T	1.37:g.43215938G>A	ENSP00000296388:p.Arg547Cys					LEPRE1_uc001chw.2_Missense_Mutation_p.R547C|LEPRE1_uc001chx.3_Missense_Mutation_p.R547C	p.R547C	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			11	1752	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	547					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1639C>T	CCDS472.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095792	0.76870	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.43294	0.95;0.95;0.95	5.13	5.13	0.70059	Prolyl 4-hydroxylase, alpha subunit (1);	0.180261	0.46145	D	0.000312	T	0.55210	0.1906	L	0.54323	1.7	0.40772	D	0.983099	D;D;D	0.89917	1.0;0.998;0.999	D;P;P	0.63703	0.917;0.628;0.732	T	0.59364	-0.7468	10	0.87932	D	0	-17.8294	11.2111	0.48799	0.0:0.0:0.8167:0.1833	.	547;412;547	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	C	547;547;547;412	ENSP00000380245:R547C;ENSP00000236040:R547C;ENSP00000296388:R547C	ENSP00000236040:R547C	R	-	1	0	LEPRE1	42988525	0.679000	0.27596	0.883000	0.34634	0.941000	0.58515	3.960000	0.56752	2.396000	0.81511	0.467000	0.42956	CGC		0.582	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2		NM_022356		8	28	0	0	0	0.038147	0	8	28		
HYI	81888	broad.mit.edu	37	1	43917930	43917930	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43917930C>G	ENST00000372425.4	-	3	567	c.372G>C	c.(370-372)gaG>gaC	p.E124D	HYI_ENST00000372434.1_Missense_Mutation_p.E149D|HYI_ENST00000583037.1_Missense_Mutation_p.E51D|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000486909.1_Missense_Mutation_p.E124D|HYI_ENST00000372432.1_Missense_Mutation_p.E124D|HYI_ENST00000372426.1_Missense_Mutation_p.E76D|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	124							hydroxypyruvate isomerase activity (GO:0008903)	p.E51D(1)|p.E124D(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCTCCATCTCAGCCTTGA	0.562																																						uc001cjo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(370-372)GAG>GAC		hydroxypyruvate isomerase homolog							181.0	151.0	161.0					1																	43917930		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917930C>G		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.372G>C	1.37:g.43917930C>G	ENSP00000361502:p.Glu124Asp					KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.E51D|HYI_uc001cjn.2_Missense_Mutation_p.E124D|HYI_uc001cjp.2_Missense_Mutation_p.E51D	p.E124D	NM_031207	NP_112484	Q5T013	HYI_HUMAN			3	542	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	124					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.372G>C	CCDS53309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.759|9.759	1.169594|1.169594	0.21621|0.21621	.|.	.|.	ENSG00000178922|ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909|ENST00000470662;ENST00000487366	T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84|.	5.49|5.49	-3.77|-3.77	0.04346|0.04346	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);|.	0.142737|.	0.64402|.	D|.	0.000007|.	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.42008|0.42008	1.315|1.315	0.34916|0.34916	D|D	0.747964|0.747964	B|.	0.09022|.	0.002|.	B|.	0.15484|.	0.013|.	T|T	0.50285|0.50285	-0.8846|-0.8846	10|5	0.41790|.	T|.	0.15|.	.|.	5.8686|5.8686	0.18791|0.18791	0.0939:0.629:0.093:0.1841|0.0939:0.629:0.093:0.1841	.|.	124|.	Q5T013|.	HYI_HUMAN|.	D|T	124;42;76;51;124;57;76;124|43;48	ENSP00000361502:E124D;ENSP00000361509:E124D;ENSP00000361503:E76D;ENSP00000428399:E124D|.	ENSP00000361502:E124D|.	E|R	-|-	3|2	2|0	HYI|HYI	43690517|43690517	0.884000|0.884000	0.30299|0.30299	0.770000|0.770000	0.31555|0.31555	0.017000|0.017000	0.09413|0.09413	-0.007000|-0.007000	0.12810|0.12810	-0.475000|-0.475000	0.06852|0.06852	-0.379000|-0.379000	0.06801|0.06801	GAG|AGA		0.562	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_031207		7	27	0	0	0	0.02938	0	7	27		
ZNF644	84146	broad.mit.edu	37	1	91406112	91406112	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:91406112G>C	ENST00000370440.1	-	3	1016	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267E|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q267E(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAGAAATTGAATGAACTCT	0.348																																						uc001dnw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|skin(1)	3						c.(799-801)CAA>GAA		zinc finger protein 644 isoform 1							102.0	101.0	101.0					1																	91406112		2202	4300	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406112G>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.799C>G	1.37:g.91406112G>C	ENSP00000359469:p.Gln267Glu					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Q267E	p.Q267E	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	941	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	267					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.799C>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149579	0.37923	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00619	6.18;6.18	6.03	6.03	0.97812	.	0.062813	0.64402	D	0.000003	T	0.00384	0.0012	L	0.29908	0.895	0.45464	D	0.998432	B	0.09022	0.002	B	0.08055	0.003	T	0.68754	-0.5325	10	0.39692	T	0.17	-1.2057	15.1246	0.72472	0.0:0.1404:0.8596:0.0	.	267	Q9H582	ZN644_HUMAN	E	267	ENSP00000359469:Q267E;ENSP00000337008:Q267E	ENSP00000337008:Q267E	Q	-	1	0	ZNF644	91178700	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.642000	0.67888	2.861000	0.98227	0.655000	0.94253	CAA		0.348	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2		NM_032186		30	122	0	0	0	0.034045	0	30	122		
SPAG17	200162	broad.mit.edu	37	1	118628687	118628687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:118628687C>G	ENST00000336338.5	-	13	1685	c.1620G>C	c.(1618-1620)aaG>aaC	p.K540N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	540						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K540N(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)		GATCAAAATTCTTTTGGTCCT	0.423																																						uc001ehk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1618-1620)AAG>AAC		sperm associated antigen 17							94.0	94.0	94.0					1																	118628687		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118628687C>G		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.1620G>C	1.37:g.118628687C>G	ENSP00000337804:p.Lys540Asn						p.K540N	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	13	1688	-	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)	540					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1620G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582480	0.28180	.	.	ENSG00000155761	ENST00000336338	T	0.16597	2.33	5.73	5.73	0.89815	.	0.588490	0.20411	N	0.092858	T	0.09335	0.0230	L	0.42245	1.32	0.29462	N	0.857684	P	0.48016	0.904	P	0.48227	0.571	T	0.13737	-1.0498	10	0.12430	T	0.62	.	12.3731	0.55265	0.1682:0.8318:0.0:0.0	.	540	Q6Q759	SPG17_HUMAN	N	540	ENSP00000337804:K540N	ENSP00000337804:K540N	K	-	3	2	SPAG17	118430210	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.445000	0.35079	2.700000	0.92200	0.650000	0.86243	AAG		0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		27	60	0	0	0	0.034045	0	27	60		
HIST2H2BF	440689	broad.mit.edu	37	1	149783666	149783666	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:149783666G>C	ENST00000369167.1	-	1	248	c.213C>G	c.(211-213)ttC>ttG	p.F71L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.F71L|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.F71L|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	71					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CGATGCGCTCGAAGATGTCGT	0.627																																						uc001esr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(211-213)TTC>TTG		histone cluster 2, H2bf isoform a							72.0	66.0	68.0					1																	149783666		2202	4279	6481	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783666G>C	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.213C>G	1.37:g.149783666G>C	ENSP00000358164:p.Phe71Leu					HIST2H2BF_uc010pbj.1_Missense_Mutation_p.F71L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.F71L	p.F71L	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	263	-	Breast(34;0.0124)|all_hematologic(923;0.127)		71					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.213C>G	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656443	0.67586	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.63744	-0.06;-0.06;-0.06	3.52	1.64	0.23874	Histone-fold (2);Histone core (1);	0.000000	0.50627	D	0.000104	T	0.69378	0.3104	M	0.90705	3.14	0.37805	D	0.927829	D;P;P	0.64830	0.994;0.953;0.825	P;P;P	0.62649	0.905;0.747;0.552	T	0.71444	-0.4591	10	0.66056	D	0.02	.	6.6639	0.23029	0.3165:0.0:0.6835:0.0	.	71;71;71	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	L	71	ENSP00000445831:F71L;ENSP00000407461:F71L;ENSP00000358164:F71L	ENSP00000358164:F71L	F	-	3	2	HIST2H2BF	148050290	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.331000	0.52075	0.501000	0.28013	0.184000	0.17185	TTC		0.627	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2		NM_001024599		41	262	0	0	0	0.048971	0	41	262		
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A	rs563905924	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E3753D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11257-11259)GAG>GAT		filaggrin							310.0	306.0	307.0					1																	152276103		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276103C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11259G>T	1.37:g.152276103C>A	ENSP00000357789:p.Glu3753Asp						p.E3753D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11295	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3753			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11259G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973431	0.34848	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.08	-6.16	0.02098	.	.	.	.	.	T	0.01222	0.0040	L	0.41824	1.3	0.09310	N	1	D	0.59767	0.986	D	0.70227	0.968	T	0.14144	-1.0483	9	0.17832	T	0.49	.	7.7253	0.28757	0.0:0.2341:0.5945:0.1714	.	3753	P20930	FILA_HUMAN	D	3753	ENSP00000357789:E3753D	ENSP00000357789:E3753D	E	-	3	2	FLG	150542727	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.812000	0.00754	-1.560000	0.01686	0.552000	0.68991	GAG		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		121	722	1	0	6.42063e-57	0.048971	7.49792e-57	121	722		
ATP8B2	57198	broad.mit.edu	37	1	154321468	154321468	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:154321468G>T	ENST00000368489.3	+	28	3546	c.3546G>T	c.(3544-3546)ctG>ctT	p.L1182L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1168					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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.L1182L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGCGGCTGAGCTCTCTCG	0.647																																						uc001fex.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3544-3546)CTG>CTT		ATPase, class I, type 8B, member 2 isoform a							46.0	47.0	47.0					1																	154321468		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321468G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3546G>T	1.37:g.154321468G>T							p.L1182L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3546	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1168			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.3546G>T	CCDS1066.1																																																																																				0.647	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2		NM_020452		24	101	1	0	2.98393e-07	0.076483	3.14669e-07	24	101		
OR10T2	128360	broad.mit.edu	37	1	158368889	158368889	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:158368889C>A	ENST00000334438.1	-	1	367	c.368G>T	c.(367-369)cGc>cTc	p.R123L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R123L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGCTACATAGCGATCATATCC	0.473																																						uc010pih.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(367-369)CGC>CTC		olfactory receptor, family 10, subfamily T,							126.0	124.0	125.0					1																	158368889		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368889C>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.368G>T	1.37:g.158368889C>A	ENSP00000334115:p.Arg123Leu						p.R123L	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	368	-	all_hematologic(112;0.0378)		123			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.368G>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.065897	0.20067	.	.	ENSG00000186306	ENST00000334438	T	0.77358	-1.09	4.56	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	U	0.001269	T	0.77198	0.4095	H	0.98594	4.275	0.26636	N	0.972378	B	0.11235	0.004	B	0.13407	0.009	T	0.75391	-0.3334	10	0.87932	D	0	.	10.2061	0.43114	0.0:0.8328:0.0:0.1672	.	123	Q8NGX3	O10T2_HUMAN	L	123	ENSP00000334115:R123L	ENSP00000334115:R123L	R	-	2	0	OR10T2	156635513	0.995000	0.38212	0.092000	0.20876	0.096000	0.18686	4.404000	0.59735	0.551000	0.29008	-0.133000	0.14855	CGC		0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1		NM_001004475		28	445	1	0	1.88708e-17	0.037714	2.1461e-17	28	445		
RCSD1	92241	broad.mit.edu	37	1	167666699	167666699	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:167666699G>A	ENST00000367854.3	+	6	1169	c.838G>A	c.(838-840)Gag>Aag	p.E280K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E250K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	280	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.E280K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGCCCAAGAGGAGGTCCCGGA	0.612																																						uc001gem.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(838-840)GAG>AAG		RCSD domain containing 1							29.0	41.0	37.0					1																	167666699		2198	4299	6497	SO:0001583	missense	92241							g.chr1:167666699G>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.838G>A	1.37:g.167666699G>A	ENSP00000356828:p.Glu280Lys					RCSD1_uc010pli.1_Missense_Mutation_p.E250K	p.E280K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			6	1025	+	all_hematologic(923;0.215)		280			RCSD.		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.838G>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965795	0.53507	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.45668	0.9;0.89	4.23	3.3	0.37823	.	1.295330	0.05049	N	0.477813	T	0.26774	0.0655	L	0.27053	0.805	0.28157	N	0.929137	B;D	0.59767	0.124;0.986	B;P	0.58970	0.062;0.849	T	0.06698	-1.0812	9	0.25751	T	0.34	-4.6639	6.1766	0.20447	0.1048:0.1928:0.7024:0.0	.	250;280	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	K	280;250	ENSP00000356828:E280K;ENSP00000439409:E250K	ENSP00000356828:E280K	E	+	1	0	RCSD1	165933323	0.017000	0.18338	0.002000	0.10522	0.045000	0.14185	2.271000	0.43364	0.856000	0.35383	0.585000	0.79938	GAG		0.612	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1		NM_052862		10	69	0	0	0	0.069234	0	10	69		
RALGPS2	55103	broad.mit.edu	37	1	178753646	178753646	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:178753646G>C	ENST00000367635.3	+	3	489	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E51Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	51	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E51Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGTTACACCAGAAGAATATGC	0.393																																						uc001glz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(151-153)GAA>CAA		Ral GEF with PH domain and SH3 binding motif 2							133.0	121.0	125.0					1																	178753646		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178753646G>C	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.151G>C	1.37:g.178753646G>C	ENSP00000356607:p.Glu51Gln					RALGPS2_uc001gly.1_Missense_Mutation_p.E51Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E51Q	p.E51Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			3	489	+			51			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.151G>C	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976792	0.92982	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.30714	1.52;1.52	5.32	5.32	0.75619	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.045029	0.85682	D	0.000000	T	0.54806	0.1881	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.98	T	0.52586	-0.8556	10	0.44086	T	0.13	.	17.7576	0.88453	0.0:0.0:1.0:0.0	.	51;51	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	51	ENSP00000356607:E51Q;ENSP00000356606:E51Q	ENSP00000356606:E51Q	E	+	1	0	RALGPS2	177020269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.898000	0.92538	2.479000	0.83701	0.467000	0.42956	GAA		0.393	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2		NM_152663		17	77	0	0	0	0.0333	0	17	77		
RNASEL	6041	broad.mit.edu	37	1	182555244	182555244	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:182555244T>C	ENST00000367559.3	-	2	951	c.698A>G	c.(697-699)aAt>aGt	p.N233S	RNASEL_ENST00000444138.1_Missense_Mutation_p.N233S|RNASEL_ENST00000539397.1_Missense_Mutation_p.N233S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	233	2-5A binding (P-loop) 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.N233S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCCCCTCACATTGACATCAGC	0.517																																						uc001gpj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|stomach(1)	5						c.(697-699)AAT>AGT		ribonuclease L							77.0	72.0	74.0					1																	182555244		2203	4300	6503	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555244T>C	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.698A>G	1.37:g.182555244T>C	ENSP00000356530:p.Asn233Ser					RNASEL_uc009wxz.1_Missense_Mutation_p.N233S|RNASEL_uc001gpk.2_Missense_Mutation_p.N233S|RNASEL_uc009wya.1_Missense_Mutation_p.N233S	p.N233S	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	865	-			233			2-5A binding (P-loop) 1.|ANK 6.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.698A>G	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.685751	0.29962	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.27104	1.69;1.69;1.69	4.59	-2.01	0.07410	Ankyrin repeat-containing domain (4);	0.278890	0.30538	N	0.009411	T	0.21674	0.0522	M	0.70903	2.155	0.09310	N	0.999999	P;P;B	0.38223	0.623;0.623;0.433	B;B;B	0.35550	0.205;0.205;0.061	T	0.10132	-1.0643	10	0.54805	T	0.06	-3.9457	6.669	0.23058	0.0:0.3852:0.1292:0.4856	.	233;233;233	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	S	233	ENSP00000356530:N233S;ENSP00000411147:N233S;ENSP00000440844:N233S	ENSP00000356530:N233S	N	-	2	0	RNASEL	180821867	0.000000	0.05858	0.009000	0.14445	0.601000	0.36947	-0.351000	0.07711	-0.734000	0.04843	0.455000	0.32223	AAT		0.517	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1		NM_021133		36	136	0	0	0	0.059317	0	36	136		
NCF2	4688	broad.mit.edu	37	1	183532680	183532680	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:183532680A>T	ENST00000367535.3	-	12	1318	c.1067T>A	c.(1066-1068)gTg>gAg	p.V356E	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000413720.1_Missense_Mutation_p.V311E|NCF2_ENST00000367536.1_Missense_Mutation_p.V356E|NCF2_ENST00000418089.1_Missense_Mutation_p.V275E	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	356	OPR.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.V356E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CTTGTAGTGCACCTTGAGTGT	0.547																																						uc001gqj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1066-1068)GTG>GAG		neutrophil cytosolic factor 2							125.0	108.0	113.0					1																	183532680		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532680A>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1067T>A	1.37:g.183532680A>T	ENSP00000356505:p.Val356Glu					NCF2_uc010pod.1_Missense_Mutation_p.V311E|NCF2_uc010poe.1_Missense_Mutation_p.V275E|NCF2_uc001gqk.3_Missense_Mutation_p.V356E	p.V356E	NM_000433	NP_000424	P19878	NCF2_HUMAN			12	1342	-			356			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1067T>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380026	0.82682	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04	5.74	4.61	0.57282	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.83483	2.645	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.79834	-0.1636	10	0.66056	D	0.02	-7.8854	10.1685	0.42895	0.9248:0.0:0.0752:0.0	.	275;311;356	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	E	356;428;311;275;356;7;95	ENSP00000356506:V356E;ENSP00000399294:V311E;ENSP00000407217:V275E;ENSP00000356505:V356E;ENSP00000397228:V7E;ENSP00000406198:V95E	ENSP00000356505:V356E	V	-	2	0	NCF2	181799303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.106000	0.71511	1.020000	0.39573	0.529000	0.55759	GTG		0.547	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		NM_000433		45	384	0	0	0	0.045515	0	45	384		
HMCN1	83872	broad.mit.edu	37	1	186092199	186092199	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:186092199G>A	ENST00000271588.4	+	81	12575	c.12346G>A	c.(12346-12348)Ggg>Agg	p.G4116R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4116R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4116	Ig-like C2-type 40.				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.G4116R(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						GCATAAAGATGGGCGTGCAAT	0.512																																						uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(12346-12348)GGG>AGG		hemicentin 1 precursor							116.0	91.0	99.0					1																	186092199		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092199G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12346G>A	1.37:g.186092199G>A	ENSP00000271588:p.Gly4116Arg						p.G4116R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			81	12575	+			4116			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12346G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408539	0.62399	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79247	-1.25;-1.25	5.85	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89817	0.3986	10	0.56958	D	0.05	.	14.5275	0.67900	0.0696:0.0:0.9304:0.0	.	4116	Q96RW7	HMCN1_HUMAN	R	4116	ENSP00000271588:G4116R;ENSP00000356462:G4116R	ENSP00000271588:G4116R	G	+	1	0	HMCN1	184358822	1.000000	0.71417	0.531000	0.27976	0.024000	0.10985	7.397000	0.79903	1.478000	0.48253	0.655000	0.94253	GGG		0.512	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		27	166	0	0	0	0.059317	0	27	166		
KCNH1	3756	broad.mit.edu	37	1	211276926	211276926	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:211276926C>G	ENST00000271751.4	-	3	249	c.222G>C	c.(220-222)ctG>ctC	p.L74L	KCNH1_ENST00000367007.4_Silent_p.L74L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	74	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.L74L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTTATCAGTCAGCTCCCCAT	0.328																																						uc001hib.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(220-222)CTG>CTC		potassium voltage-gated channel, subfamily H,							137.0	128.0	131.0					1																	211276926		2201	4298	6499	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211276926C>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.222G>C	1.37:g.211276926C>G						KCNH1_uc001hic.2_Silent_p.L74L	p.L74L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	3	392	-			74			Cytoplasmic (Potential).|PAS.		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.222G>C	CCDS1496.1																																																																																				0.328	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1		NM_002238		17	72	0	0	0	0.0333	0	17	72		
CUBN	8029	broad.mit.edu	37	10	17142151	17142151	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:17142151A>G	ENST00000377833.4	-	14	1683	c.1618T>C	c.(1618-1620)Tct>Cct	p.S540P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	540	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S540P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGCAGAAGAGGAATCTCCA	0.408																																						uc001ioo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1618-1620)TCT>CCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						98.0	100.0	99.0					10																	17142151		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142151A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1618T>C	10.37:g.17142151A>G	ENSP00000367064:p.Ser540Pro						p.S540P	NM_001081	NP_001072	O60494	CUBN_HUMAN			14	1670	-			540			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1618T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.640979	0.29157	.	.	ENSG00000107611	ENST00000377833	T	0.19938	2.11	5.51	4.38	0.52667	CUB (5);	0.000000	0.41712	D	0.000836	T	0.26629	0.0651	L	0.46567	1.45	0.24371	N	0.994834	D	0.62365	0.991	P	0.59357	0.856	T	0.16928	-1.0386	10	0.31617	T	0.26	.	2.0853	0.03644	0.5442:0.1441:0.0779:0.2338	.	540	O60494	CUBN_HUMAN	P	540	ENSP00000367064:S540P	ENSP00000367064:S540P	S	-	1	0	CUBN	17182157	0.991000	0.36638	0.682000	0.30024	0.056000	0.15407	1.511000	0.35801	0.930000	0.37217	0.528000	0.53228	TCT		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		17	104	0	0	0	0.028581	0	17	104		
SVIL	6840	broad.mit.edu	37	10	29777621	29777621	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:29777621G>A	ENST00000355867.4	-	23	5009	c.4257C>T	c.(4255-4257)agC>agT	p.S1419S	SVIL_ENST00000535393.1_Silent_p.S333S|SVIL_ENST00000375398.2_Silent_p.S1419S|SVIL_ENST00000375400.3_Silent_p.S993S|SVIL_ENST00000538146.1_Silent_p.S211S|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1419	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S1419S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGCTGACGTTGCTGAAGTTTT	0.507																																						uc001iut.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(4255-4257)AGC>AGT		supervillin isoform 2							52.0	44.0	47.0					10																	29777621		2203	4297	6500	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29777621G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4257C>T	10.37:g.29777621G>A						SVIL_uc010qdw.1_Silent_p.S333S|SVIL_uc001iuu.1_Silent_p.S993S|SVIL_uc009xlc.2_Silent_p.S211S	p.S1419S	NM_021738	NP_068506	O95425	SVIL_HUMAN			23	5010	-		Breast(68;0.103)	1419			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.4257C>T	CCDS7164.1																																																																																				0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				10	35	0	0	0	0.080935	0	10	35		
TACC2	10579	broad.mit.edu	37	10	123843281	123843281	+	Silent	SNP	C	C	T	rs551434293	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:123843281C>T	ENST00000369005.1	+	4	1606	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.L422L|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	422					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.L422L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		20250	0.0		0.0	False		,,,				2504	0.0031					uc001lfv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1264-1266)CTC>CTT		transforming, acidic coiled-coil containing							73.0	75.0	74.0					10																	123843281		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843281C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1266C>T	10.37:g.123843281C>T						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L422L|TACC2_uc010qtv.1_Silent_p.L422L	p.L422L	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	1626	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	422					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1266C>T	CCDS7626.1																																																																																				0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				42	109	0	0	0	0.048971	0	42	109		
SLC25A22	79751	broad.mit.edu	37	11	792032	792032	+	Silent	SNP	C	C	T	rs530958282		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:792032C>T	ENST00000320230.5	-	10	1336	c.855G>A	c.(853-855)ctG>ctA	p.L285L	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Silent_p.L285L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	285					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L285L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCGCCCTTCAGGAAGGCCG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		16894	0.0		0.0	False		,,,				2504	0.001				Colon(93;848 1468 3270 23355 49636)	uc001lri.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(853-855)CTG>CTA		mitochondrial glutamate carrier 1	L-Glutamic Acid(DB00142)						16.0	16.0	16.0					11																	792032		2191	4286	6477	SO:0001819	synonymous_variant	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792032C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.855G>A	11.37:g.792032C>T						CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Silent_p.L285L|SLC25A22_uc001lrj.2_Silent_p.L285L	p.L285L	NM_024698	NP_078974	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1197	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	285			Solcar 3.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000320230.5	37	c.855G>A	CCDS7715.1																																																																																				0.697	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2				5	13	0	0	0	0.02938	0	5	13		
TRPM5	29850	broad.mit.edu	37	11	2439011	2439011	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:2439011C>G	ENST00000155858.6	-	7	963	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	TRPM5_ENST00000533060.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.E321Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.E319Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTCCTGCTCGAAGTCATAC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(955-957)GAG>CAG		transient receptor potential cation channel,							36.0	33.0	34.0					11																	2439011		2194	4296	6490	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2439011C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.955G>C	11.37:g.2439011C>G	ENSP00000155858:p.Glu319Gln					TRPM5_uc010qxl.1_Missense_Mutation_p.E319Q|TRPM5_uc009ydn.2_Missense_Mutation_p.E321Q	p.E319Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	7	964	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	319			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.955G>C	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.806020	0.50421	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.92	3.92	0.45320	.	0.000000	0.64402	D	0.000003	T	0.66376	0.2783	L	0.39020	1.185	0.46521	D	0.999089	D;D;D	0.67145	0.996;0.996;0.961	P;P;P	0.61722	0.893;0.893;0.725	T	0.66658	-0.5868	10	0.41790	T	0.15	-25.1833	13.4519	0.61176	0.0:1.0:0.0:0.0	.	319;321;319	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	313;319;321;319;319;319	ENSP00000434383:E313Q;ENSP00000155858:E319Q;ENSP00000387965:E321Q;ENSP00000434121:E319Q;ENSP00000436809:E319Q	ENSP00000155858:E319Q	E	-	1	0	TRPM5	2395587	0.998000	0.40836	0.981000	0.43875	0.330000	0.28571	5.014000	0.64029	1.909000	0.55274	0.313000	0.20887	GAG		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		NM_014555		5	18	0	0	0	0.02938	0	5	18		
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18551	0.0		0.001	False		,,,				2504	0.0					uc001mem.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(703-705)CGG>CAG		dachsous 1 precursor		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	100.0	102.0	101.0		704	4.7	0.9	11	dbSNP_134	101	5,8587	4.3+/-15.6	0,5,4291	yes	missense	DCHS1	NM_003737.2	43	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	probably-damaging	235/3299	6662141	6,12988	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704G>A	11.37:g.6662141C>T	ENSP00000299441:p.Arg235Gln						p.R235Q	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.704G>A	CCDS7771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.63	2.592815	0.46214	2.27E-4	5.82E-4	ENSG00000166341	ENST00000299441	T	0.52295	0.67	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	D	0.000718	T	0.66799	0.2826	M	0.76433	2.335	0.42686	D	0.993569	D	0.76494	0.999	D	0.79784	0.993	T	0.64313	-0.6437	10	0.19590	T	0.45	.	17.0062	0.86393	0.0:1.0:0.0:0.0	.	235	Q96JQ0	PCD16_HUMAN	Q	235	ENSP00000299441:R235Q	ENSP00000299441:R235Q	R	-	2	0	DCHS1	6618717	0.992000	0.36948	0.943000	0.38184	0.399000	0.30720	3.037000	0.49775	2.312000	0.78011	0.544000	0.68410	CGG		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		45	110	0	0	0	0.048971	0	45	110		
OR4C6	219432	broad.mit.edu	37	11	55433539	55433539	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:55433539C>T	ENST00000314259.3	+	1	926	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L299L(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						TGAAGAAACTCTGGATGAAAT	0.423																																						uc001nht.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(895-897)CTC>CTT		olfactory receptor, family 4, subfamily C,							78.0	79.0	78.0					11																	55433539		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433539C>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.897C>T	11.37:g.55433539C>T						OR4C6_uc010rik.1_Silent_p.L299L	p.L299L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1162	+			299			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.897C>T	CCDS31506.1																																																																																				0.423	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1		NM_001004704		29	55	0	0	0	0.037714	0	29	55		
OR5B21	219968	broad.mit.edu	37	11	58275356	58275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:58275356C>T	ENST00000360374.2	-	1	222	c.223G>A	c.(223-225)Gta>Ata	p.V75I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V75I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGGGGCTACAGCTGATGAG	0.512																																						uc010rki.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(223-225)GTA>ATA		olfactory receptor, family 5, subfamily B,							93.0	83.0	86.0					11																	58275356		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275356C>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.223G>A	11.37:g.58275356C>T	ENSP00000353537:p.Val75Ile						p.V75I	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	223	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	75			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.223G>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430467	0.04669	.	.	ENSG00000198283	ENST00000360374	T	0.01406	4.93	5.05	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.242632	0.20961	N	0.082576	T	0.00724	0.0024	N	0.04724	-0.175	0.09310	N	1	B	0.32507	0.373	B	0.30401	0.115	T	0.47142	-0.9140	10	0.07482	T	0.82	-4.6185	6.903	0.24293	0.0:0.5613:0.0:0.4387	.	75	A6NL26	OR5BL_HUMAN	I	75	ENSP00000353537:V75I	ENSP00000353537:V75I	V	-	1	0	OR5B21	58031932	0.000000	0.05858	0.017000	0.16124	0.212000	0.24457	0.269000	0.18589	0.323000	0.23307	0.555000	0.69702	GTA		0.512	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1		NM_001005218		15	71	0	0	0	0.024245	0	15	71		
AHNAK	79026	broad.mit.edu	37	11	62288867	62288867	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62288867G>A	ENST00000378024.4	-	5	13296	c.13022C>T	c.(13021-13023)cCt>cTt	p.P4341L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4341					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.P4341L(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)				GTCAGCCTTAGGAAGGGTAAC	0.502																																						uc001ntl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13021-13023)CCT>CTT		AHNAK nucleoprotein isoform 1							143.0	140.0	141.0					11																	62288867		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288867G>A	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.13022C>T	11.37:g.62288867G>A	ENSP00000367263:p.Pro4341Leu					AHNAK_uc001ntk.1_Intron	p.P4341L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13322	-		Melanoma(852;0.155)	4341					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13022C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316761	0.23908	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.49	3.56	0.40772	.	0.075609	0.53938	D	0.000056	T	0.38188	0.1031	H	0.97635	4.045	0.41322	D	0.987181	D	0.89917	1.0	D	0.87578	0.998	T	0.60419	-0.7267	10	0.87932	D	0	.	13.5241	0.61584	0.0:0.0:0.8424:0.1576	.	4341	Q09666	AHNK_HUMAN	L	4341	ENSP00000367263:P4341L	ENSP00000367263:P4341L	P	-	2	0	AHNAK	62045443	1.000000	0.71417	0.164000	0.22755	0.002000	0.02628	7.598000	0.82745	1.082000	0.41137	0.545000	0.68477	CCT		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		10	388	0	0	0	0.069234	0	10	388		
AHNAK	79026	broad.mit.edu	37	11	62289475	62289475	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62289475C>G	ENST00000378024.4	-	5	12688	c.12414G>C	c.(12412-12414)ctG>ctC	p.L4138L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4138					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.L4138L(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)				TTGGACCTTTCAGATTCAGGT	0.517																																						uc001ntl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12412-12414)CTG>CTC		AHNAK nucleoprotein isoform 1							108.0	107.0	107.0					11																	62289475		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289475C>G	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.12414G>C	11.37:g.62289475C>G						AHNAK_uc001ntk.1_Intron	p.L4138L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12714	-		Melanoma(852;0.155)	4138					A1A586	Silent	SNP	ENST00000378024.4	37	c.12414G>C	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		45	329	0	0	0	0.045515	0	45	329		
PPP6R3	55291	broad.mit.edu	37	11	68331848	68331848	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:68331848C>A	ENST00000393800.2	+	9	1177	c.923C>A	c.(922-924)gCc>gAc	p.A308D	PPP6R3_ENST00000529710.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A308D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A308D|PPP6R3_ENST00000393799.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A308D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A308D	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	308					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.A308D(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTCTAGAAGCCATCAGAGGA	0.458																																						uc001onw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(922-924)GCC>GAC		SAPS domain family, member 3 isoform 6							119.0	119.0	119.0					11																	68331848		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68331848C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.923C>A	11.37:g.68331848C>A	ENSP00000377389:p.Ala308Asp					SAPS3_uc001onv.2_Missense_Mutation_p.A308D|SAPS3_uc001ony.3_Missense_Mutation_p.A308D|SAPS3_uc001onx.2_Missense_Mutation_p.A308D|SAPS3_uc009ysh.2_Missense_Mutation_p.A308D|SAPS3_uc001onu.2_Missense_Mutation_p.A308D|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Missense_Mutation_p.A15D	p.A308D	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		9	1190	+			308					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.923C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784264	0.90282	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.28;-0.28;-0.55;1.71	5.08	5.08	0.68730	.	0.046327	0.85682	D	0.000000	D	0.83394	0.5245	M	0.72894	2.215	0.80722	D	1	D;P;P;D;P;D;D	0.89917	1.0;0.909;0.908;0.98;0.925;0.973;0.983	D;P;P;P;P;P;P	0.97110	1.0;0.847;0.747;0.899;0.865;0.736;0.899	T	0.82155	-0.0597	10	0.38643	T	0.18	.	18.6533	0.91439	0.0:1.0:0.0:0.0	.	15;308;308;308;308;308;308	B4DYU6;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;PP6R3_HUMAN;.;.	D	308;308;308;308;308;308;308;308;308;39	ENSP00000377388:A308D;ENSP00000377389:A308D;ENSP00000431415:A308D;ENSP00000265637:A308D;ENSP00000433058:A308D;ENSP00000377390:A308D;ENSP00000265636:A308D;ENSP00000437329:A308D;ENSP00000433565:A308D;ENSP00000436209:A39D	ENSP00000265636:A308D	A	+	2	0	PPP6R3	68088424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.046000	0.64226	2.641000	0.89580	0.462000	0.41574	GCC		0.458	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		9	240	1	0	1.08611e-07	0.080935	1.15233e-07	9	240		
PPFIA1	8500	broad.mit.edu	37	11	70172733	70172733	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:70172733G>C	ENST00000253925.7	+	7	954	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E247Q|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	247					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.E247Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGCCACGAGGAAGACCTTGC	0.398																																						uc001opo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)	3						c.(739-741)GAA>CAA		PTPRF interacting protein alpha 1 isoform b							197.0	212.0	207.0					11																	70172733		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172733G>C	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.739G>C	11.37:g.70172733G>C	ENSP00000253925:p.Glu247Gln					PPFIA1_uc001opn.1_Missense_Mutation_p.E247Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.E247Q	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	937	+			247					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.739G>C	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919402	0.73098	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.35789	1.29;1.29	4.3	4.3	0.51218	.	0.160057	0.41500	U	0.000865	T	0.29028	0.0721	L	0.29908	0.895	0.39355	D	0.965813	B;B	0.31274	0.013;0.317	B;B	0.28784	0.03;0.094	T	0.30031	-0.9992	10	0.72032	D	0.01	.	16.1488	0.81594	0.0:0.0:1.0:0.0	.	247;247	Q13136;Q13136-2	LIPA1_HUMAN;.	Q	247	ENSP00000253925:E247Q;ENSP00000374198:E247Q	ENSP00000253925:E247Q	E	+	1	0	PPFIA1	69850381	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	7.251000	0.78297	2.109000	0.64355	0.655000	0.94253	GAA		0.398	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		291	384	0	0	0	0.048971	0	291	384		
DSCAML1	57453	broad.mit.edu	37	11	117321323	117321323	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:117321323G>A	ENST00000321322.6	-	20	3831	c.3830C>T	c.(3829-3831)cCc>cTc	p.P1277L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1007L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1217	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.P1277L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCCCGTTGGGCTTGGTAGG	0.582																																						uc001prh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3829-3831)CCC>CTC		Down syndrome cell adhesion molecule like 1							60.0	55.0	57.0					11																	117321323		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117321323G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3830C>T	11.37:g.117321323G>A	ENSP00000315465:p.Pro1277Leu						p.P1277L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	20	3832	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1217			Extracellular (Potential).|Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3830C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939385	0.34189	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56103	0.48;0.48	4.42	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39091	0.1065	L	0.31752	0.955	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.28839	-1.0031	9	0.02654	T	1	.	18.3455	0.90321	0.0:0.0:1.0:0.0	.	1217	Q8TD84	DSCL1_HUMAN	L	1007;1277;984	ENSP00000434335:P1007L;ENSP00000315465:P1277L	ENSP00000315465:P1277L	P	-	2	0	DSCAML1	116826533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.543000	0.67225	2.741000	0.93983	0.585000	0.79938	CCC		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		16	114	0	0	0	0.024245	0	16	114		
DYRK4	8798	broad.mit.edu	37	12	4708904	4708904	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:4708904C>G	ENST00000540757.2	+	8	891	c.731C>G	c.(730-732)gCc>gGc	p.A244G	DYRK4_ENST00000010132.5_Missense_Mutation_p.A244G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A244G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.A646G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AAGGGCCAAGCCTCTGTTAAA	0.428																																						uc001qmx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|skin(1)	3						c.(730-732)GCC>GGC		dual-specificity tyrosine-(Y)-phosphorylation							144.0	137.0	139.0					12																	4708904		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708904C>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.731C>G	12.37:g.4708904C>G	ENSP00000441755:p.Ala244Gly					DYRK4_uc009zeh.1_Missense_Mutation_p.A359G|DYRK4_uc001qmy.1_Missense_Mutation_p.A244G	p.A244G	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		8	891	+			244			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.731C>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068950	0.36470	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.2	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.269390	0.36200	N	0.002728	T	0.46964	0.1420	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.36529	-0.9744	10	0.52906	T	0.07	.	6.9208	0.24387	0.0:0.0777:0.2588:0.6635	.	359;244;244	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	359;244;244;244	ENSP00000437534:A359G;ENSP00000441755:A244G;ENSP00000010132:A244G;ENSP00000439697:A244G	ENSP00000010132:A244G	A	+	2	0	DYRK4	4579165	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	3.353000	0.52247	0.818000	0.34468	-0.415000	0.06103	GCC		0.428	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2				18	80	0	0	0	0.038395	0	18	80		
ANO6	196527	broad.mit.edu	37	12	45810576	45810576	+	Silent	SNP	C	C	T	rs201874992		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:45810576C>T	ENST00000320560.8	+	17	2308	c.2106C>T	c.(2104-2106)gaC>gaT	p.D702D	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.D702D|ANO6_ENST00000425752.2_Silent_p.D702D|ANO6_ENST00000441606.2_Silent_p.D684D|ANO6_ENST00000423947.3_Silent_p.D723D	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	702					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.D702D(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAAGAGTGGACGCATGGAAAC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18216	0.001		0.0	False		,,,				2504	0.0					uc001roo.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|kidney(1)	2						c.(2104-2106)GAC>GAT		anoctamin 6 isoform a							128.0	110.0	116.0					12																	45810576		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810576C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2106C>T	12.37:g.45810576C>T						ANO6_uc010sld.1_Silent_p.D702D|ANO6_uc010sle.1_Silent_p.D702D|ANO6_uc010slf.1_Silent_p.D723D|ANO6_uc010slg.1_Silent_p.D684D	p.D702D	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			17	2441	+			702			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2106C>T	CCDS31782.1																																																																																				0.483	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1		XM_113743		14	61	0	0	0	0.020292	0	14	61		
SLC38A2	54407	broad.mit.edu	37	12	46764360	46764360	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46764360C>G	ENST00000256689.5	-	4	693	c.249G>C	c.(247-249)gcG>gcC	p.A83A	RP11-474P2.2_ENST00000550319.1_RNA|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	83	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.A83A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGCCCACAATCGCATTGCTCA	0.393																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	urinary_tract(1)|skin(1)	2						c.(247-249)GCG>GCC		solute carrier family 38, member 2							139.0	131.0	134.0					12																	46764360		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46764360C>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.249G>C	12.37:g.46764360C>G						SLC38A2_uc001rph.2_Intron	p.A83A	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	4	689	-	Lung SC(27;0.192)|Renal(347;0.236)		83			Regulates protein turnover upon amino acid deprivation (By similarity).|Helical; (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.249G>C	CCDS8749.1																																																																																				0.393	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				24	105	0	0	0	0.099896	0	24	105		
SLC38A2	54407	broad.mit.edu	37	12	46765071	46765071	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46765071C>G	ENST00000256689.5	-	2	450	c.6G>C	c.(4-6)aaG>aaC	p.K2N	RP11-474P2.2_ENST00000550319.1_RNA|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	2	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.K2N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTTCGGCCTTCTTCATGCTAA	0.577																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)|skin(1)	2						c.(4-6)AAG>AAC		solute carrier family 38, member 2							157.0	149.0	152.0					12																	46765071		2203	4300	6503	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46765071C>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.6G>C	12.37:g.46765071C>G	ENSP00000256689:p.Lys2Asn					SLC38A2_uc001rph.2_5'UTR	p.K2N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	2	446	-	Lung SC(27;0.192)|Renal(347;0.236)		2			Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.6G>C	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630220	0.46944	.	.	ENSG00000134294	ENST00000256689	T	0.50813	0.73	5.29	2.19	0.27852	.	0.318283	0.33980	N	0.004375	T	0.24661	0.0598	N	0.11427	0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04991	-1.0913	10	0.29301	T	0.29	-3.075	8.6825	0.34218	0.1456:0.393:0.4614:0.0	.	2	Q96QD8	S38A2_HUMAN	N	2	ENSP00000256689:K2N	ENSP00000256689:K2N	K	-	3	2	SLC38A2	45051338	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.742000	0.38248	1.202000	0.43218	0.650000	0.86243	AAG		0.577	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				47	136	0	0	0	0.048971	0	47	136		
WIF1	11197	broad.mit.edu	37	12	65448985	65448985	+	Missense_Mutation	SNP	C	C	T	rs553762024		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:65448985C>T	ENST00000286574.4	-	9	1305	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	311	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.E311K(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CAGCCAGGCTCGCAGACAGCT	0.413			T	HMGA2	pleomorphic salivary gland adenoma								C|||	1	0.000199681	0.0	0.0014	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2		NaN		Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)|skin(1)	4						c.(931-933)GAG>AAG		WNT inhibitory factor 1 precursor							80.0	75.0	77.0					12																	65448985		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65448985C>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.931G>A	12.37:g.65448985C>T	ENSP00000286574:p.Glu311Lys						p.E311K	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	9	1076	-			311			EGF-like 5.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.931G>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898761	0.33535	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.52754	2.74;0.65	5.71	4.82	0.62117	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.057680	0.64402	N	0.000003	T	0.34978	0.0916	N	0.26042	0.785	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10291	-1.0636	9	.	.	.	.	15.0667	0.72002	0.0:0.9319:0.0:0.0681	.	311	Q9Y5W5	WIF1_HUMAN	K	311;60	ENSP00000286574:E311K;ENSP00000439024:E60K	.	E	-	1	0	WIF1	63735252	1.000000	0.71417	0.952000	0.39060	0.890000	0.51754	4.781000	0.62389	1.560000	0.49568	0.655000	0.94253	GAG		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2				16	89	0	0	0	0.024245	0	16	89		
ANO4	121601	broad.mit.edu	37	12	101510560	101510560	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:101510560C>A	ENST00000392977.3	+	25	2764	c.2554C>A	c.(2554-2556)Cct>Act	p.P852T	ANO4_ENST00000550015.1_Missense_Mutation_p.P372T|ANO4_ENST00000299222.9_Missense_Mutation_p.P372T|ANO4_ENST00000392979.3_Missense_Mutation_p.P817T			Q32M45	ANO4_HUMAN	anoctamin 4	852					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.P817T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTCGGGGACTCCTCTTAAGTA	0.542										HNSCC(74;0.22)																												uc010svm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(2554-2556)CCT>ACT		anoctamin 4							174.0	156.0	162.0					12																	101510560		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101510560C>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.2554C>A	12.37:g.101510560C>A	ENSP00000376703:p.Pro852Thr	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.P817T|ANO4_uc001thx.2_Missense_Mutation_p.P852T|ANO4_uc001thy.2_Missense_Mutation_p.P372T	p.P852T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			25	3126	+			852			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2554C>A		.	.	.	.	.	.	.	.	.	.	C	9.070	0.996630	0.19043	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.67865	-0.28;-0.15;-0.29;-0.15	5.6	5.6	0.85130	.	0.071699	0.56097	D	0.000023	T	0.44201	0.1282	N	0.04203	-0.255	0.43099	D	0.994788	B;B;B	0.23128	0.027;0.08;0.065	B;B;B	0.25759	0.017;0.063;0.023	T	0.42120	-0.9470	10	0.22706	T	0.39	.	12.8993	0.58117	0.0:0.9258:0.0:0.0742	.	372;852;817	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	T	817;372;852;372	ENSP00000376705:P817T;ENSP00000299222:P372T;ENSP00000376703:P852T;ENSP00000450192:P372T	ENSP00000299222:P372T	P	+	1	0	ANO4	100034691	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.869000	0.56062	2.620000	0.88729	0.563000	0.77884	CCT		0.542	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826		23	144	1	0	3.62473e-10	0.062417	3.91741e-10	23	144		
EIF2B1	1967	broad.mit.edu	37	12	124109399	124109399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:124109399C>A	ENST00000424014.2	-	7	770	c.562G>T	c.(562-564)Gag>Tag	p.E188*	EIF2B1_ENST00000539951.1_Intron	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	188					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.E188*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCTGCTTTCTCCATGATGTAG	0.393																																						uc001ufm.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(562-564)GAG>TAG		eukaryotic translation initiation factor 2B,							151.0	122.0	132.0					12																	124109399		2203	4300	6503	SO:0001587	stop_gained	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124109399C>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.562G>T	12.37:g.124109399C>A	ENSP00000416250:p.Glu188*					EIF2B1_uc001ufn.2_Nonsense_Mutation_p.E186*	p.E188*	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	7	705	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		188					A6NLY9|B4DGX0|Q3SXP4	Nonsense_Mutation	SNP	ENST00000424014.2	37	c.562G>T	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240249	0.98157	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000534960	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-39.6547	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	188;186;143	.	ENSP00000228958:E186X	E	-	1	0	EIF2B1	122675352	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.625000	0.83145	2.716000	0.92895	0.655000	0.94253	GAG		0.393	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1		NM_001414		17	74	1	0	4.35082e-09	0.055883	4.6731e-09	17	74		
KLHL1	57626	broad.mit.edu	37	13	70314531	70314531	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:70314531A>G	ENST00000377844.4	-	8	2556	c.1797T>C	c.(1795-1797)aaT>aaC	p.N599N	KLHL1_ENST00000545028.1_Silent_p.N406N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	599					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.N599N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTACTTGCCATTCAATGCTG	0.318																																						uc001vip.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1795-1797)AAT>AAC		kelch-like 1 protein							65.0	58.0	61.0					13																	70314531		2203	4299	6502	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314531A>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1797T>C	13.37:g.70314531A>G						KLHL1_uc010thm.1_Silent_p.N538N	p.N599N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2591	-		Breast(118;0.000162)	599			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1797T>C	CCDS9445.1																																																																																				0.318	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		10	27	0	0	0	0.069234	0	10	27		
DACH1	1602	broad.mit.edu	37	13	72049858	72049858	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:72049858T>A	ENST00000359684.2	-	10	2155	c.2156A>T	c.(2155-2157)gAt>gTt	p.D719V	DACH1_ENST00000313174.7_Missense_Mutation_p.D519V|DACH1_ENST00000354591.4_Missense_Mutation_p.D465V|DACH1_ENST00000305425.4_Missense_Mutation_p.D667V			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	719					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.D667V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGAGACTATCTGTTGAAGC	0.393																																						uc010thn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1993-1995)GAT>GTT		dachshund homolog 1 isoform a							321.0	304.0	309.0					13																	72049858		1913	4135	6048	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049858T>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2156A>T	13.37:g.72049858T>A	ENSP00000352712:p.Asp719Val					DACH1_uc010tho.1_Missense_Mutation_p.D517V|DACH1_uc010thp.1_Missense_Mutation_p.D463V	p.D665V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	10	2417	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	717			Potential.		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1994A>T		.	.	.	.	.	.	.	.	.	.	T	18.77	3.695201	0.68386	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35789	1.32;1.35;1.33;1.29	5.1	5.1	0.69264	.	0.157808	0.56097	D	0.000035	T	0.51329	0.1668	L	0.43923	1.385	0.50632	D	0.999889	P;D;P	0.64830	0.95;0.994;0.657	P;D;B	0.67103	0.571;0.949;0.409	T	0.54323	-0.8311	10	0.87932	D	0	-7.5169	15.1774	0.72924	0.0:0.0:0.0:1.0	.	463;517;665	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	V	667;519;465;719;719	ENSP00000304994:D667V;ENSP00000318506:D519V;ENSP00000346604:D465V;ENSP00000352712:D719V	ENSP00000304994:D667V	D	-	2	0	DACH1	70947859	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.536000	0.82023	2.036000	0.60181	0.533000	0.62120	GAT		0.393	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		106	80	0	0	0	0.048971	0	106	80		
DOCK9	23348	broad.mit.edu	37	13	99520199	99520199	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:99520199C>T	ENST00000376460.1	-	29	3237	c.3157G>A	c.(3157-3159)Gct>Act	p.A1053T	DOCK9_ENST00000448493.2_Missense_Mutation_p.A1065T|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1054T|DOCK9_ENST00000442173.1_Missense_Mutation_p.A1053T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1054					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1053T(1)|p.A1065T(1)|p.A1054T(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCCAGGAGCAAAACAGCTA	0.403																																						uc001vnt.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(1)	1						c.(3160-3162)GCT>ACT		dedicator of cytokinesis 9 isoform a							47.0	44.0	45.0					13																	99520199		1855	4107	5962	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99520199C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3157G>A	13.37:g.99520199C>T	ENSP00000365643:p.Ala1053Thr					DOCK9_uc001vnw.2_Missense_Mutation_p.A1053T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.A1054T|DOCK9_uc010tis.1_Missense_Mutation_p.A1053T|DOCK9_uc010tit.1_Missense_Mutation_p.A1054T|DOCK9_uc010tiq.1_Missense_Mutation_p.A18T|DOCK9_uc010afu.1_Missense_Mutation_p.A900T	p.A1054T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			29	3215	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1054					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3160G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941020	0.53079	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.65364	1.9;1.9;-0.15;1.9	5.12	5.12	0.69794	.	0.172142	0.52532	D	0.000078	T	0.46268	0.1384	N	0.16862	0.45	0.45342	D	0.998331	B;B;B;B;B;B	0.09022	0.0;0.001;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001;0.001	T	0.39121	-0.9629	10	0.44086	T	0.13	.	13.2798	0.60208	0.0:0.9232:0.0:0.0768	.	1054;1053;1054;1053;1053;1054	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	T	1053;1054;1054;1054;1053;1054;1065;1053	ENSP00000365643:A1053T;ENSP00000341086:A1054T;ENSP00000401958:A1065T;ENSP00000406883:A1053T	ENSP00000341086:A1054T	A	-	1	0	DOCK9	98318200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.846000	0.48262	2.540000	0.85666	0.655000	0.94253	GCT		0.403	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		6	21	0	0	0	0.047766	0	6	21		
MYH7	4625	broad.mit.edu	37	14	23896042	23896042	+	Missense_Mutation	SNP	C	C	T	rs371898076		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:23896042C>T	ENST00000355349.3	-	18	2150	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	663	Actin-binding.|Myosin motor.		R -> C (in CMH1). {ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:15858117}.|R -> H (in CMH1). {ECO:0000269|PubMed:11133230, ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:7731997}.|R -> S (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R663H(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGGGTGGAGCGCAAGTTGGT	0.478																																						uc001wjx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|breast(1)	ovary(3)|skin(1)	4	GRCh37	CM993620	MYH7	M		c.(1987-1989)CGC>CAC		myosin, heavy chain 7, cardiac muscle, beta		C	HIS/ARG	0,4406		0,0,2203	126.0	110.0	115.0		1988	4.0	1.0	14		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH7	NM_000257.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	663/1936	23896042	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23896042C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1988G>A	14.37:g.23896042C>T	ENSP00000347507:p.Arg663His						p.R663H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	18	2094	-	all_cancers(95;2.54e-05)		663		R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1).	Myosin head-like.|Actin-binding.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1988G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751233	0.89753	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88277	-2.36	4.89	3.98	0.46160	Myosin head, motor domain (2);	.	.	.	.	D	0.91274	0.7249	L	0.49126	1.545	0.53005	D	0.999963	P	0.44816	0.844	P	0.57548	0.823	D	0.91082	0.4900	9	0.48119	T	0.1	.	15.1958	0.73088	0.0:0.8585:0.1415:0.0	.	663	P12883	MYH7_HUMAN	H	663	ENSP00000347507:R663H	ENSP00000347507:R663H	R	-	2	0	MYH7	22965882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.701000	0.68325	1.261000	0.44149	0.655000	0.94253	CGC		0.478	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		18	46	0	0	0	0.049695	0	18	46		
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547																																						uc001xqv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1348-1350)CTC>CTG		dihydrolipoamide S-succinyltransferase (E2							60.0	59.0	59.0					14																	75369021		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75369021C>G		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1350C>G	14.37:g.75369021C>G						DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L	p.L450L	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	15	1413	+			450					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1350C>G	CCDS9833.1																																																																																				0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1				9	43	0	0	0	0.069234	0	9	43		
FLRT2	23768	broad.mit.edu	37	14	86088847	86088847	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:86088847C>T	ENST00000330753.4	+	2	1756	c.989C>T	c.(988-990)tCa>tTa	p.S330L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S330L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	330	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.S330L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATATCCCTTCATCTCTCAAC	0.478																																						uc001xvr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(988-990)TCA>TTA		fibronectin leucine rich transmembrane protein 2							146.0	155.0	152.0					14																	86088847		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088847C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.989C>T	14.37:g.86088847C>T	ENSP00000332879:p.Ser330Leu					FLRT2_uc010atd.2_Missense_Mutation_p.S330L	p.S330L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1756	+			330			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.989C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586098	0.46110	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.01516	4.81;4.81	5.97	5.97	0.96955	Cysteine-rich flanking region, C-terminal (1);	0.207785	0.41823	D	0.000819	T	0.03095	0.0091	L	0.55990	1.75	0.45899	D	0.998749	B	0.24186	0.099	B	0.19391	0.025	T	0.54622	-0.8266	10	0.10377	T	0.69	-4.7101	20.4239	0.99064	0.0:1.0:0.0:0.0	.	330	O43155	FLRT2_HUMAN	L	330	ENSP00000332879:S330L;ENSP00000451050:S330L	ENSP00000332879:S330L	S	+	2	0	FLRT2	85158600	0.266000	0.24112	0.908000	0.35775	0.981000	0.71138	4.608000	0.61141	2.828000	0.97474	0.655000	0.94253	TCA		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				94	241	0	0	0	0.048971	0	94	241		
AHNAK2	113146	broad.mit.edu	37	14	105419822	105419822	+	Missense_Mutation	SNP	G	G	A	rs371321397		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105419822G>A	ENST00000333244.5	-	7	2085	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	656						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.R656C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTTTAAGCGTTTTTCATCG	0.403																																						uc010axc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1966-1968)CGC>TGC		AHNAK nucleoprotein 2		G	CYS/ARG	1,3881		0,1,1940	245.0	246.0	245.0		1966	-3.5	0.0	14		245	0,8288		0,0,4144	no	missense	AHNAK2	NM_138420.2	180	0,1,6084	AA,AG,GG		0.0,0.0258,0.0082	possibly-damaging	656/5796	105419822	1,12169	1941	4144	6085	SO:0001583	missense	113146					nucleus		g.chr14:105419822G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1966C>T	14.37:g.105419822G>A	ENSP00000353114:p.Arg656Cys					AHNAK2_uc001ypx.2_Missense_Mutation_p.R556C	p.R656C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2086	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	656					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1966C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.038	0.988898	0.18966	2.58E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00922	5.54	1.74	-3.48	0.04739	.	.	.	.	.	T	0.01061	0.0035	L	0.57536	1.79	0.09310	N	1	P	0.50066	0.931	B	0.41571	0.36	T	0.16748	-1.0392	9	0.56958	D	0.05	.	1.5763	0.02625	0.1517:0.3424:0.3143:0.1917	.	656	Q8IVF2	AHNK2_HUMAN	C	656	ENSP00000353114:R656C	ENSP00000353114:R656C	R	-	1	0	AHNAK2	104490867	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-2.004000	0.00961	-0.723000	0.03601	CGC		0.403	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		74	350	0	0	0	0.048971	0	74	350		
NUDT14	256281	broad.mit.edu	37	14	105644073	105644073	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105644073C>T	ENST00000392568.2	-	2	175		c.e2-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.?(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCACCATTCTAGAAGGGGC	0.617										HNSCC(42;0.11)																												uc010tyn.1		NaN																	1	Unknown(1)		urinary_tract(1)	skin(1)	1						c.e2-1		nudix-type motif 14							108.0	94.0	98.0					14																	105644073		2202	4299	6501	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105644073C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.82-1G>A	14.37:g.105644073C>T		HNSCC(42;0.11)				NUDT14_uc001yqi.2_Splice_Site	p.N28_splice	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	2	196	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)						Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37	c.82_splice	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693291	0.30052	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6375	0.39819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104715118	1.000000	0.71417	0.542000	0.28115	0.045000	0.14185	2.736000	0.47385	1.980000	0.57719	0.561000	0.74099	.		0.617	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4		NM_177533	Intron	50	159	0	0	0	0.048971	0	50	159		
RYR3	6263	broad.mit.edu	37	15	33872188	33872188	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:33872188G>C	ENST00000389232.4	+	13	1350	c.1280G>C	c.(1279-1281)cGc>cCc	p.R427P	RYR3_ENST00000415757.3_Missense_Mutation_p.R427P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	427					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R427P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAATCGCACAGCTGCC	0.562																																						uc001zhi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1279-1281)CGC>CCC		ryanodine receptor 3							57.0	57.0	57.0					15																	33872188		2013	4190	6203	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33872188G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1280G>C	15.37:g.33872188G>C	ENSP00000373884:p.Arg427Pro					RYR3_uc010bar.2_Missense_Mutation_p.R427P	p.R427P	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1350	+		all_lung(180;7.18e-09)	427			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1280G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310143	0.40895	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96745	-4.11;-4.11	5.15	5.15	0.70609	.	0.277832	0.36101	N	0.002788	D	0.95516	0.8543	M	0.65975	2.015	0.38045	D	0.935593	P;B	0.46621	0.881;0.108	P;B	0.45712	0.491;0.033	D	0.95805	0.8836	10	0.52906	T	0.07	.	12.1807	0.54210	0.0775:0.0:0.9225:0.0	.	427;427	Q15413-2;Q15413	.;RYR3_HUMAN	P	427	ENSP00000373884:R427P;ENSP00000399610:R427P	ENSP00000354735:R427P	R	+	2	0	RYR3	31659480	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.796000	0.55507	2.674000	0.91012	0.655000	0.94253	CGC		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				7	28	0	0	0	0.02938	0	7	28		
SCAPER	49855	broad.mit.edu	37	15	77025725	77025725	+	Splice_Site	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:77025725C>G	ENST00000563290.1	-	16	1962	c.1867G>C	c.(1867-1869)Gta>Cta	p.V623L	SCAPER_ENST00000538941.2_Splice_Site_p.V377L|SCAPER_ENST00000324767.7_Splice_Site_p.V623L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	623	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V623L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCATTTACCTTTAAAAAA	0.348																																						uc002bby.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1867-1869)GTA>CTA		S-phase cyclin A-associated protein in the ER							64.0	57.0	59.0					15																	77025725		1816	4066	5882	SO:0001630	splice_region_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77025725C>G	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1867-1G>C	15.37:g.77025725C>G						SCAPER_uc002bbx.2_Missense_Mutation_p.V377L|SCAPER_uc002bbz.1_Missense_Mutation_p.V494L|SCAPER_uc002bca.1_Missense_Mutation_p.V488L|SCAPER_uc002bcb.1_Missense_Mutation_p.V629L	p.V623L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			15	1926	-			622			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1867G>C	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381945	0.82792	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.29655	1.59;1.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.32530	0.975	0.80722	D	1	D;P	0.62365	0.991;0.754	D;P	0.63703	0.917;0.455	T	0.12993	-1.0526	10	0.35671	T	0.21	.	19.7152	0.96115	0.0:1.0:0.0:0.0	.	644;377	Q9BY12-2;F5H7X8	.;.	L	623;377;645	ENSP00000326924:V623L;ENSP00000442190:V377L	ENSP00000303560:V645L	V	-	1	0	SCAPER	74812780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.430000	0.80321	2.653000	0.90120	0.650000	0.86243	GTA		0.348	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843	Missense_Mutation	7	63	0	0	0	0.02938	0	7	63		
TELO2	9894	broad.mit.edu	37	16	1551483	1551483	+	Silent	SNP	C	C	T	rs370665424		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:1551483C>T	ENST00000262319.6	+	10	1623	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	448					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.D448D(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGCGGGTGACGGCGCCTCGG	0.692																																						uc002cly.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1342-1344)GAC>GAT		TEL2, telomere maintenance 2, homolog				0,4392		0,0,2196	31.0	29.0	30.0		1344	2.2	0.0	16		30	1,8593		0,1,4296	no	coding-synonymous	TELO2	NM_016111.3		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		448/838	1551483	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1551483C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1344C>T	16.37:g.1551483C>T							p.D448D	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			10	1635	+		Hepatocellular(780;0.219)	448					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.1344C>T	CCDS32363.1																																																																																				0.692	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111		11	5	0	0	0	0.105934	0	11	5		
POLR3E	55718	broad.mit.edu	37	16	22337220	22337220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:22337220G>A	ENST00000299853.5	+	18	1654	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	POLR3E_ENST00000564209.1_Missense_Mutation_p.R496Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R460Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R496Q	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	496					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.R496Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCGGTGTGCGGATCAAGGAG	0.692																																						uc002dkk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1486-1488)CGG>CAG		RNA polymerase III polypeptide E							27.0	24.0	25.0					16																	22337220		2189	4297	6486	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22337220G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1487G>A	16.37:g.22337220G>A	ENSP00000299853:p.Arg496Gln					POLR3E_uc002dkj.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkm.2_Missense_Mutation_p.R460Q|POLR3E_uc010vbr.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkl.2_Missense_Mutation_p.R496Q|POLR3E_uc010vbs.1_Missense_Mutation_p.R460Q|POLR3E_uc010vbt.1_Missense_Mutation_p.R440Q	p.R496Q	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	18	1643	+			496					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.1487G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474544	0.26511	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.42513	0.97;0.97;0.97	5.27	3.19	0.36642	.	0.673504	0.14300	N	0.328374	T	0.29684	0.0741	L	0.36672	1.1	0.23704	N	0.997067	B;B;B;B;B;B	0.16166	0.002;0.001;0.001;0.001;0.001;0.016	B;B;B;B;B;B	0.10450	0.001;0.0;0.001;0.002;0.001;0.005	T	0.20907	-1.0261	10	0.25106	T	0.35	-11.6378	7.0827	0.25239	0.3217:0.0:0.6783:0.0	.	440;460;496;496;496;496	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	Q	496;496;460	ENSP00000299853:R496Q;ENSP00000352140:R496Q;ENSP00000399254:R460Q	ENSP00000299853:R496Q	R	+	2	0	POLR3E	22244721	0.497000	0.26067	0.990000	0.47175	0.502000	0.33828	0.848000	0.27710	0.482000	0.27582	0.462000	0.41574	CGG		0.692	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1		NM_018119		9	22	0	0	0	0.047766	0	9	22		
ZNF668	79759	broad.mit.edu	37	16	31075213	31075213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:31075213G>A	ENST00000538906.1	-	2	1352	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	ZNF668_ENST00000426488.2_Missense_Mutation_p.H213Y|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.H213Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H190Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.H190Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H190Y|AC135050.5_ENST00000568708.1_RNA	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	190					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.H190Y(1)|p.H213Y(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGGCCAGCGTGAGTACGCCGG	0.657																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(4)	4						c.(568-570)CAC>TAC		zinc finger protein 668							20.0	20.0	20.0					16																	31075213		2192	4296	6488	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075213G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.568C>T	16.37:g.31075213G>A	ENSP00000440149:p.His190Tyr					ZNF668_uc002eao.2_Missense_Mutation_p.H190Y|ZNF668_uc010cag.1_Missense_Mutation_p.H190Y	p.H190Y	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			2	925	-			190			C2H2-type 5.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.568C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052843	0.93793	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	H	0.95470	3.675	0.54753	D	0.999987	D	0.76494	0.999	D	0.73708	0.981	T	0.78593	-0.2144	10	0.87932	D	0	-37.2952	17.613	0.88059	0.0:0.0:1.0:0.0	.	190	Q96K58	ZN668_HUMAN	Y	213;190;190;190;190	ENSP00000442573:H213Y;ENSP00000441349:H190Y;ENSP00000440149:H190Y;ENSP00000378434:H190Y;ENSP00000300849:H190Y	ENSP00000300849:H190Y	H	-	1	0	ZNF668	30982714	1.000000	0.71417	0.753000	0.31225	0.903000	0.53119	9.643000	0.98464	2.694000	0.91930	0.555000	0.69702	CAC		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2		NM_024706		9	14	0	0	0	0.047766	0	9	14		
CNTNAP4	85445	broad.mit.edu	37	16	76569457	76569457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:76569457G>A	ENST00000476707.1	+	17	2919	c.2780G>A	c.(2779-2781)aGa>aAa	p.R927K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R923K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R875K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R851K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	924	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.R923K(1)|p.R851K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACGGCCACCAGACAGAGAGGC	0.483																																						uc002feu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(2770-2772)AGA>AAA		cell recognition protein CASPR4 isoform 1							57.0	63.0	61.0					16																	76569457		2192	4298	6490	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569457G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2780G>A	16.37:g.76569457G>A	ENSP00000417628:p.Arg927Lys					CNTNAP4_uc002fev.1_Missense_Mutation_p.R788K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R851K|CNTNAP4_uc002fex.1_Missense_Mutation_p.R927K	p.R924K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			20	3156	+			924			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2771G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.197188	0.94960	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42682	D	0.000673	T	0.62768	0.2455	.	.	.	0.47819	D	0.99952	P;P;D	0.71674	0.933;0.943;0.998	P;P;D	0.72075	0.838;0.733;0.976	T	0.56805	-0.7918	9	0.27785	T	0.31	.	18.8927	0.92412	0.0:0.0:1.0:0.0	.	851;927;924	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	K	923;875;851;927	ENSP00000306893:R923K;ENSP00000439733:R875K;ENSP00000418741:R851K;ENSP00000417628:R927K	ENSP00000306893:R923K	R	+	2	0	CNTNAP4	75126958	1.000000	0.71417	0.947000	0.38551	0.986000	0.74619	9.657000	0.98554	2.687000	0.91594	0.655000	0.94253	AGA		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401		18	77	0	0	0	0.043863	0	18	77		
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		31	17	0	0	0	0.050027	0	31	17		
USP43	124739	broad.mit.edu	37	17	9631804	9631804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:9631804G>T	ENST00000285199.7	+	15	2965	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	USP43_ENST00000570475.1_Nonsense_Mutation_p.E952*|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	957					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E958*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAACTGGAAGGAGAGCTTCCA	0.552																																						uc010cod.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2869-2871)GAG>TAG		ubiquitin specific protease 43							34.0	38.0	37.0					17																	9631804		1969	4147	6116	SO:0001587	stop_gained	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631804G>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2869G>T	17.37:g.9631804G>T	ENSP00000285199:p.Glu957*					USP43_uc002gma.3_Nonsense_Mutation_p.E646*|USP43_uc010vva.1_Nonsense_Mutation_p.E952*|USP43_uc010coe.2_Nonsense_Mutation_p.E754*|USP43_uc002gmc.3_Nonsense_Mutation_p.E469*	p.E957*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			15	2869	+			957					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Nonsense_Mutation	SNP	ENST00000285199.7	37	c.2869G>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	37	6.248095	0.97412	.	.	ENSG00000154914	ENST00000285199	.	.	.	5.28	0.97	0.19692	.	6.739540	0.00397	N	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-0.5692	5.4667	0.16648	0.1705:0.3122:0.5173:0.0	.	.	.	.	X	957	.	ENSP00000285199:E957X	E	+	1	0	USP43	9572529	0.012000	0.17670	0.001000	0.08648	0.058000	0.15608	1.259000	0.32956	0.072000	0.16694	0.655000	0.94253	GAG		0.552	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210		12	28	1	0	9.05144e-12	0.105934	1.00315e-11	12	28		
CPD	1362	broad.mit.edu	37	17	28778804	28778804	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:28778804T>A	ENST00000225719.4	+	14	3221	c.3145T>A	c.(3145-3147)Tgt>Agt	p.C1049S	CPD_ENST00000543464.2_Missense_Mutation_p.C802S|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1049	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.C1049S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAGAAAGACTGTACTTCAAA	0.388																																						uc002hfb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)|skin(1)	2						c.(3145-3147)TGT>AGT		carboxypeptidase D precursor							136.0	131.0	133.0					17																	28778804		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28778804T>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3145T>A	17.37:g.28778804T>A	ENSP00000225719:p.Cys1049Ser					CPD_uc010wbo.1_Missense_Mutation_p.C802S|CPD_uc010wbp.1_Intron	p.C1049S	NM_001304	NP_001295	O75976	CBPD_HUMAN			14	3160	+			1049			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.3145T>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021375	0.75275	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03181	4.02;4.02	5.34	5.34	0.76211	Peptidase M14, carboxypeptidase A (2);	0.151580	0.64402	D	0.000011	T	0.11965	0.0291	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.806;0.999	T	0.35025	-0.9805	10	0.12430	T	0.62	.	14.8053	0.69948	0.0:0.0:0.0:1.0	.	802;1049	F5GZH6;O75976	.;CBPD_HUMAN	S	1049;802	ENSP00000225719:C1049S;ENSP00000444443:C802S	ENSP00000225719:C1049S	C	+	1	0	CPD	25802930	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.126000	0.77201	2.147000	0.66899	0.455000	0.32223	TGT		0.388	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		14	91	0	0	0	0.105934	0	14	91		
RARA	5914	broad.mit.edu	37	17	38510626	38510626	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:38510626C>T	ENST00000254066.5	+	7	1335	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Missense_Mutation_p.R310W|RARA_ENST00000394089.2_Missense_Mutation_p.R294W|RARA_ENST00000394081.3_Missense_Mutation_p.R289W|RARA_ENST00000425707.3_Missense_Mutation_p.R197W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	294	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.R294W(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCTGAACCGGACCCAGAT	0.642			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NaN		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(880-882)CGG>TGG		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						120.0	96.0	104.0					17																	38510626		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38510626C>T	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.880C>T	17.37:g.38510626C>T	ENSP00000254066:p.Arg294Trp					RARA_uc002hul.3_Missense_Mutation_p.R294W|RARA_uc010wfe.1_Missense_Mutation_p.R197W|RARA_uc002hun.1_Missense_Mutation_p.R289W	p.R294W	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		7	1335	+		Breast(137;0.00328)	294			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.880C>T	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542733	0.65198	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	4.93	4.93	0.64822	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.89353	3.025	0.80722	D	1	D;D;D	0.57899	0.967;0.981;0.965	B;P;P	0.50440	0.329;0.641;0.604	D	0.98886	1.0771	10	0.87932	D	0	.	17.0595	0.86543	0.0:1.0:0.0:0.0	.	197;289;294	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	W	294;197;294;310;289;287;181	ENSP00000254066:R294W;ENSP00000389993:R197W;ENSP00000377649:R294W;ENSP00000377648:R310W;ENSP00000377643:R289W	ENSP00000254066:R294W	R	+	1	2	RARA	35764152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.823000	0.55715	2.541000	0.85698	0.591000	0.81541	CGG		0.642	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2				21	93	0	0	0	0.076483	0	21	93		
HOXB4	3214	broad.mit.edu	37	17	46654110	46654110	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:46654110G>A	ENST00000332503.5	-	2	2521	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000498678.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	244					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P244S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CCTCCATTGGGCCGGCCAGGG	0.697																																						uc002inp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(730-732)CCC>TCC		homeobox B4							18.0	21.0	20.0					17																	46654110		2191	4273	6464	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654110G>A		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.730C>T	17.37:g.46654110G>A	ENSP00000328928:p.Pro244Ser					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	p.P244S	NM_024015	NP_076920	P17483	HXB4_HUMAN			2	792	-			244					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.730C>T	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432425	0.04669	.	.	ENSG00000182742	ENST00000332503	D	0.90732	-2.72	5.78	2.6	0.31112	.	1.523510	0.03694	N	0.247495	T	0.81744	0.4887	N	0.19112	0.55	0.30270	N	0.792314	B	0.12013	0.005	B	0.09377	0.004	T	0.70861	-0.4757	10	0.07990	T	0.79	.	6.0896	0.19987	0.0743:0.1182:0.602:0.2055	.	244	P17483	HXB4_HUMAN	S	244	ENSP00000328928:P244S	ENSP00000328928:P244S	P	-	1	0	HOXB4	44009109	1.000000	0.71417	0.999000	0.59377	0.489000	0.33432	1.489000	0.35562	1.430000	0.47334	0.555000	0.69702	CCC		0.697	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2				11	50	0	0	0	0.080935	0	11	50		
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:58952079C>T	ENST00000390652.5	+	9	672	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000589222.1_Missense_Mutation_p.T214M	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.T214M(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328																																						uc002iyv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(640-642)ACG>ATG		breast carcinoma amplified sequence 3 isoform 1							108.0	102.0	104.0					17																	58952079		1832	4085	5917	SO:0001583	missense	54828					nucleus		g.chr17:58952079C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.641C>T	17.37:g.58952079C>T	ENSP00000375067:p.Thr214Met					BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M	p.T214M	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		9	750	+			214						Missense_Mutation	SNP	ENST00000390652.5	37	c.641C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704749	0.48412	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.06608	3.28;3.28;3.28	5.42	5.42	0.78866	.	0.099710	0.64402	D	0.000002	T	0.05273	0.0140	N	0.21448	0.665	0.80722	D	1	P;B;B	0.36974	0.576;0.007;0.062	B;B;B	0.20955	0.032;0.007;0.024	T	0.40021	-0.9585	10	0.66056	D	0.02	.	18.8155	0.92075	0.0:1.0:0.0:0.0	.	214;214;214	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	M	214	ENSP00000375067:T214M;ENSP00000385323:T214M;ENSP00000386173:T214M	ENSP00000375067:T214M	T	+	2	0	BCAS3	56306861	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.978000	0.63799	2.537000	0.85549	0.655000	0.94253	ACG		0.328	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1		NM_017679		10	51	0	0	0	0.080935	0	10	51		
CD300LF	146722	broad.mit.edu	37	17	72691301	72691301	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:72691301G>A	ENST00000326165.6	-	7	918	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000464910.1_Silent_p.L272L|CD300LF_ENST00000469092.1_3'UTR|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Silent_p.L284L|RAB37_ENST00000402449.4_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	269					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L269L(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGCTACTGAGGTGGCCCA	0.602																																						uc002jlg.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)	1						c.(805-807)CTC>CTT		NK inhibitory receptor precursor							85.0	72.0	76.0					17																	72691301		2203	4300	6503	SO:0001819	synonymous_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72691301G>A	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.807C>T	17.37:g.72691301G>A						RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.L272L|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_3'UTR|CD300LF_uc002jli.2_3'UTR|CD300LF_uc010wra.1_Silent_p.L284L	p.L269L	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			7	910	-			269			Cytoplasmic (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	ENST00000326165.6	37	c.807C>T	CCDS11704.1																																																																																				0.602	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1		NM_139018		26	90	0	0	0	0.030593	0	26	90		
CDH2	1000	broad.mit.edu	37	18	25593677	25593677	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:25593677C>T	ENST00000269141.3	-	3	792	c.369G>A	c.(367-369)ctG>ctA	p.L123L	CDH2_ENST00000399380.3_Silent_p.L92L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	123					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L123L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGTTGGCTTCAGGCTCAATT	0.418																																						uc002kwg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(1)	4						c.(367-369)CTG>CTA		cadherin 2, type 1 preproprotein							162.0	166.0	164.0					18																	25593677		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25593677C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.369G>A	18.37:g.25593677C>T						CDH2_uc010xbn.1_Silent_p.L92L	p.L123L	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	828	-			123					A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.369G>A	CCDS11891.1																																																																																				0.418	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792		51	205	0	0	0	0.048971	0	51	205		
TCF4	6925	broad.mit.edu	37	18	52946874	52946874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:52946874G>C	ENST00000356073.4	-	9	1174	c.563C>G	c.(562-564)tCa>tGa	p.S188*	TCF4_ENST00000564403.2_Nonsense_Mutation_p.S194*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000354452.3_Nonsense_Mutation_p.S188*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S188*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S186*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S117*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S58*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S290*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.S28*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S58*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S163*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S188*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S58*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S146*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S117*	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	188					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.S188*(1)|p.S290*(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGCTTGCTGATGGAGCATA	0.478																																						uc002lfz.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(562-564)TCA>TGA		transcription factor 4 isoform b							175.0	139.0	151.0					18																	52946874		2203	4300	6503	SO:0001587	stop_gained	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52946874G>C	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.563C>G	18.37:g.52946874G>C	ENSP00000348374:p.Ser188*					TCF4_uc002lfw.3_Nonsense_Mutation_p.S28*|TCF4_uc010xdu.1_Nonsense_Mutation_p.S58*|TCF4_uc010xdv.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfx.2_Nonsense_Mutation_p.S117*|TCF4_uc010xdw.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfy.2_Nonsense_Mutation_p.S146*|TCF4_uc010xdx.1_Nonsense_Mutation_p.S164*|TCF4_uc010dph.1_Nonsense_Mutation_p.S188*|TCF4_uc010xdy.1_Nonsense_Mutation_p.S164*|TCF4_uc002lga.2_Nonsense_Mutation_p.S290*|TCF4_uc002lgb.1_Nonsense_Mutation_p.S28*|TCF4_uc010dpi.2_Nonsense_Mutation_p.S194*|TCF4_uc002lgc.3_Nonsense_Mutation_p.S109*|TCF4_uc002lfv.2_Translation_Start_Site	p.S188*	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	9	1175	-			188					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	ENST00000356073.4	37	c.563C>G	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920051	0.92249	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8784	18.4094	0.90546	0.0:0.0:1.0:0.0	.	.	.	.	X	188;28;188;146;164;164;117;58;290	.	ENSP00000346440:S188X	S	-	2	0	TCF4	51097872	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.886000	0.92447	2.715000	0.92844	0.655000	0.94253	TCA		0.478	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1		NM_003199		9	60	0	0	0	0.069234	0	9	60		
SERPINB13	5275	broad.mit.edu	37	18	61255985	61255985	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:61255985C>G	ENST00000344731.5	+	2	186	c.84C>G	c.(82-84)ttC>ttG	p.F28L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.F28L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	28					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F28L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCAACATCTTCTTTTCCCCTG	0.532																																						uc002ljc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(82-84)TTC>TTG		serine (or cysteine) proteinase inhibitor, clade							88.0	87.0	88.0					18																	61255985		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61255985C>G	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.84C>G	18.37:g.61255985C>G	ENSP00000341584:p.Phe28Leu					SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.F28L|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	p.F28L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			2	252	+			28					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.84C>G	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479535	0.44044	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.89	3.04	0.35103	Serpin domain (3);	0.481200	0.19629	N	0.109707	T	0.81754	0.4889	L	0.46947	1.48	0.49582	D	0.999808	B;B	0.31581	0.329;0.011	B;B	0.40375	0.327;0.01	T	0.77115	-0.2707	10	0.54805	T	0.06	.	6.7186	0.23318	0.0:0.3775:0.4766:0.1459	.	28;28	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	L	58;28;28;28;7	ENSP00000388300:F58L;ENSP00000269489:F28L;ENSP00000341584:F28L;ENSP00000391156:F7L	ENSP00000269489:F28L	F	+	3	2	SERPINB13	59406965	0.579000	0.26725	0.792000	0.32020	0.040000	0.13550	0.481000	0.22260	0.615000	0.30124	0.561000	0.74099	TTC		0.532	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1		NM_012397		19	53	0	0	0	0.043863	0	19	53		
TMX3	54495	broad.mit.edu	37	18	66381117	66381117	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:66381117C>T	ENST00000299608.2	-	2	383	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	TMX3_ENST00000443099.2_Missense_Mutation_p.V23I|TMX3_ENST00000562706.1_Missense_Mutation_p.V23I	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	23					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.V23I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTTTACAGACGACCATATCA	0.294																																						uc002lkf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(67-69)GTC>ATC		thioredoxin domain containing 10 precursor							41.0	37.0	39.0					18																	66381117		2196	4299	6495	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66381117C>T	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.67G>A	18.37:g.66381117C>T	ENSP00000299608:p.Val23Ile					CCDC102B_uc002lkk.2_5'Flank|TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.V23I|TMX3_uc002lkg.3_Missense_Mutation_p.V23I|CCDC102B_uc002lkh.2_5'Flank	p.V23I	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			2	202	-			23					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.67G>A	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.765964	0.15983	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.12465	2.9;2.89;2.68	4.74	-2.68	0.06041	Thioredoxin-like fold (2);	1.143940	0.06178	N	0.678993	T	0.07863	0.0197	N	0.25332	0.735	0.09310	N	0.999995	B;B;B	0.28880	0.226;0.165;0.025	B;B;B	0.15870	0.01;0.014;0.003	T	0.38779	-0.9645	10	0.18276	T	0.48	.	7.7766	0.29041	0.3352:0.5175:0.1473:0.0	.	23;23;23	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	I	23	ENSP00000299608:V23I;ENSP00000444954:V23I;ENSP00000402605:V23I	ENSP00000299608:V23I	V	-	1	0	TMX3	64532097	0.694000	0.27738	0.898000	0.35279	0.420000	0.31355	0.975000	0.29449	-0.523000	0.06409	-1.113000	0.02065	GTC		0.294	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1		NM_019022		4	15	0	0	0	0.009096	0	4	15		
ZNF516	9658	broad.mit.edu	37	18	74153297	74153297	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:74153297C>T	ENST00000443185.2	-	3	2031	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G572S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGCGGAGCCAGGGCTGCTG	0.736																																						uc010dqx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1714-1716)GGC>AGC		zinc finger protein 516							11.0	15.0	14.0					18																	74153297		2012	4122	6134	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153297C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1714G>A	18.37:g.74153297C>T	ENSP00000394757:p.Gly572Ser					ZNF516_uc002lme.2_RNA	p.G572S	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1949	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	572						Missense_Mutation	SNP	ENST00000443185.2	37	c.1714G>A		.	.	.	.	.	.	.	.	.	.	C	6.321	0.427253	0.11987	.	.	ENSG00000101493	ENST00000443185	T	0.16324	2.35	4.36	1.52	0.23074	.	0.526407	0.16658	N	0.204892	T	0.06690	0.0171	.	.	.	0.21105	N	0.999787	B	0.32918	0.39	B	0.27380	0.079	T	0.35525	-0.9785	9	0.13853	T	0.58	-1.9294	4.2951	0.10897	0.1499:0.5334:0.0:0.3167	.	572	Q92618	ZN516_HUMAN	S	572	ENSP00000394757:G572S	ENSP00000394757:G572S	G	-	1	0	ZNF516	72282285	0.004000	0.15560	0.001000	0.08648	0.258000	0.26162	1.556000	0.36288	0.191000	0.20236	-0.150000	0.13652	GGC		0.736	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643		6	15	0	0	0	0.02938	0	6	15		
ZNF555	148254	broad.mit.edu	37	19	2852822	2852822	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:2852822G>A	ENST00000334241.4	+	4	897	c.759G>A	c.(757-759)gaG>gaA	p.E253E	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.E252E	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	253					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.E253E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		ACACCGGAGAGAAGCCATATA	0.413																																						uc002lwo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(757-759)GAG>GAA		zinc finger protein 555							66.0	59.0	62.0					19																	2852822		2203	4300	6503	SO:0001819	synonymous_variant	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852822G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.759G>A	19.37:g.2852822G>A						ZNF555_uc002lwn.3_Silent_p.E252E	p.E253E	NM_152791	NP_690004	Q8NEP9	ZN555_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)	4	848	+			253					A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	ENST00000334241.4	37	c.759G>A	CCDS12096.1																																																																																				0.413	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		12	64	0	0	0	0.09319	0	12	64		
OR2Z1	284383	broad.mit.edu	37	19	8842207	8842207	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:8842207G>A	ENST00000324060.2	+	1	892	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGATAACGTGGTTTCCCT	0.537																																						uc010xkg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(817-819)GTG>ATG		olfactory receptor, family 2, subfamily Z,							182.0	152.0	162.0					19																	8842207		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842207G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.817G>A	19.37:g.8842207G>A	ENSP00000316284:p.Val273Met						p.V273M	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	817	+			273			Helical; Name=7; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.817G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	1.442	-0.567471	0.03910	.	.	ENSG00000181733	ENST00000324060	T	0.00265	8.39	4.67	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.537540	0.17722	N	0.164204	T	0.00109	0.0003	L	0.33753	1.03	0.09310	N	1	B	0.34147	0.438	B	0.32624	0.149	T	0.06570	-1.0819	10	0.23891	T	0.37	.	3.979	0.09487	0.2779:0.1815:0.5406:0.0	.	273	Q8NG97	OR2Z1_HUMAN	M	273	ENSP00000316284:V273M	ENSP00000316284:V273M	V	+	1	0	OR2Z1	8703207	0.000000	0.05858	0.828000	0.32881	0.218000	0.24690	-0.841000	0.04359	0.538000	0.28769	-0.313000	0.08912	GTG		0.537	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1				27	160	0	0	0	0.108266	0	27	160		
CARM1	10498	broad.mit.edu	37	19	11032381	11032381	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:11032381C>A	ENST00000327064.4	+	16	1965	c.1775C>A	c.(1774-1776)tCc>tAc	p.S592Y	CARM1_ENST00000344150.4_Missense_Mutation_p.S569Y	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	592	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S592Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCCGCCATCTCCATGGCGTCG	0.652																																						uc002mpz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1774-1776)TCC>TAC		coactivator-associated arginine							60.0	66.0	64.0					19																	11032381		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11032381C>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1775C>A	19.37:g.11032381C>A	ENSP00000325690:p.Ser592Tyr					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S352Y	p.S592Y	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			16	1901	+			592			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1775C>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413172	0.83449	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.38240	1.15;1.17	5.11	5.11	0.69529	.	0.065614	0.64402	D	0.000006	T	0.43299	0.1241	L	0.44542	1.39	0.58432	D	0.999996	B;D	0.61697	0.22;0.99	B;P	0.50537	0.068;0.643	T	0.43669	-0.9377	10	0.87932	D	0	-4.2949	17.2909	0.87156	0.0:1.0:0.0:0.0	.	569;592	Q86X55-1;Q86X55	.;CARM1_HUMAN	Y	592;569	ENSP00000325690:S592Y;ENSP00000340934:S569Y	ENSP00000325690:S592Y	S	+	2	0	CARM1	10893381	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.594000	0.74104	2.373000	0.80994	0.557000	0.71058	TCC		0.652	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1		XM_032719		34	156	1	0	5.66738e-07	0.086207	5.90493e-07	34	156		
ZNF714	148206	broad.mit.edu	37	19	21281118	21281118	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:21281118G>A	ENST00000596143.1	+	3	368		c.e3+1		ZNF714_ENST00000291770.7_Splice_Site|ZNF714_ENST00000601416.1_Splice_Site|ZNF714_ENST00000596053.1_Splice_Site	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714						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.?(2)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTCTTCTTGGGTGAGAATAAC	0.328																																						uc002npo.3		NaN																	2	Unknown(2)		urinary_tract(2)		0						c.e3+1		zinc finger protein 714							95.0	108.0	103.0					19																	21281118		2203	4300	6503	SO:0001630	splice_region_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21281118G>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.43+1G>A	19.37:g.21281118G>A						ZNF714_uc002npl.2_Splice_Site|ZNF714_uc010ecp.1_Splice_Site|ZNF714_uc002npn.2_Splice_Site	p.A15_splice	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			3	403	+								Q49AI1|Q86W65|Q8ND40	Splice_Site	SNP	ENST00000596143.1	37	c.43_splice	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.308220	0.01342	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.689	0.689	0.18033	.	.	.	.	.	.	.	.	.	.	.	0.22933	N	0.998546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF714	21072958	0.876000	0.30132	0.068000	0.19968	0.035000	0.12851	2.187000	0.42602	0.644000	0.30656	0.456000	0.33151	.		0.328	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1		NM_182515	Intron	22	65	0	0	0	0.069288	0	22	65		
ZNF99	7652	broad.mit.edu	37	19	22939544	22939544	+	IGR	SNP	A	A	C	rs58378942|rs74170737		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:22939544A>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.M876R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.M876R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTCATAAGGGTTGA	0.343																																						uc010xrh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2626-2628)ATG>AGG		zinc finger protein 99																																				SO:0001628	intergenic_variant	7652							g.chr19:22939544A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939544A>C							p.M876R	NM_001080409	NP_001073878					7	2627	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2627T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.354	-0.943364	0.02322	.	.	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.32	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23119	-1.0197	8	0.19147	T	0.46	.	3.988	0.09524	0.5453:0.0:0.2829:0.1718	.	876	A8MXY4	ZNF99_HUMAN	R	876	ENSP00000380293:M876R	ENSP00000380293:M876R	M	-	2	0	ZNF99	22731384	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.725000	0.00382	-1.541000	0.01727	-1.586000	0.00850	ATG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		3	69	0	0	0	0.004672	0	3	69		
ARHGEF1	9138	broad.mit.edu	37	19	42410144	42410144	+	Missense_Mutation	SNP	G	G	A	rs369443387		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:42410144G>A	ENST00000354532.3	+	26	2606	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E802K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E835K|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E876K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E787K	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	820					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E835K(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCAGGCCCCGAGGGCCAGCT	0.642																																						uc002orx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(2458-2460)GAG>AAG		Rho guanine nucleotide exchange factor 1 isoform			LYS/GLU,LYS/GLU,LYS/GLU	1,4405		0,1,2202	50.0	51.0	51.0		2458,2359,2503	3.1	0.5	19		51	0,8600		0,0,4300	no	missense,missense,missense	ARHGEF1	NM_004706.3,NM_198977.1,NM_199002.1	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	820/913,787/880,835/928	42410144	1,13005	2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410144G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2458G>A	19.37:g.42410144G>A	ENSP00000346532:p.Glu820Lys					ARHGEF1_uc002ory.2_Missense_Mutation_p.E787K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E658K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E835K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E802K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E574K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E479K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E264K	p.E820K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	26	2567	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	820					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2458G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000400	0.74818	2.27E-4	0.0	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.72942	-0.69;-0.6;-0.7;-0.47	4.1	3.06	0.35304	.	0.245698	0.26696	N	0.022972	T	0.72061	0.3414	L	0.32530	0.975	0.26567	N	0.973628	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.992;0.992;0.981	T	0.60974	-0.7156	10	0.35671	T	0.21	-21.4306	8.1238	0.30986	0.1166:0.0:0.8834:0.0	.	802;835;787;820	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	K	820;787;835;802	ENSP00000346532:E820K;ENSP00000344429:E787K;ENSP00000337261:E835K;ENSP00000367394:E802K	ENSP00000337261:E835K	E	+	1	0	ARHGEF1	47101984	0.984000	0.35163	0.497000	0.27552	0.986000	0.74619	2.056000	0.41355	0.852000	0.35287	0.550000	0.68814	GAG		0.642	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		26	125	0	0	0	0.034045	0	26	125		
ZNF285	26974	broad.mit.edu	37	19	44891096	44891096	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:44891096G>A	ENST00000330997.4	-	4	1375	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF285_ENST00000591679.1_Silent_p.F444F|ZNF285_ENST00000544719.2_Silent_p.F437F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	437					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.F437F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TACATTGGCTGAAGCCCTTTC	0.473																																						uc002ozd.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1309-1311)TTC>TTT		zinc finger protein 285							72.0	68.0	69.0					19																	44891096		2203	4300	6503	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891096G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1311C>T	19.37:g.44891096G>A						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.F444F	p.F437F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1398	-			437			C2H2-type 7.		Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.1311C>T	CCDS12638.1																																																																																				0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354		21	109	0	0	0	0.055883	0	21	109		
ZNF813	126017	broad.mit.edu	37	19	53994369	53994369	+	Nonsense_Mutation	SNP	G	G	T	rs563228256	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:53994369G>T	ENST00000396403.4	+	4	1011	c.883G>T	c.(883-885)Gga>Tga	p.G295*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	295					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.G295*(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.398																																						uc002qbu.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)	1						c.(883-885)GGA>TGA		zinc finger protein 813							77.0	81.0	79.0					19																	53994369		2198	4300	6498	SO:0001587	stop_gained	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994369G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.883G>T	19.37:g.53994369G>T	ENSP00000379684:p.Gly295*					ZNF813_uc010eqq.1_Intron	p.G295*	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1011	+			295						Nonsense_Mutation	SNP	ENST00000396403.4	37	c.883G>T	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.767759	0.90020	.	.	ENSG00000198346	ENST00000396403	.	.	.	1.11	-0.491	0.12045	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5092	0.16870	0.3926:0.0:0.6074:0.0	.	.	.	.	X	295	.	ENSP00000379684:G295X	G	+	1	0	ZNF813	58686181	0.004000	0.15560	0.716000	0.30569	0.720000	0.41350	1.353000	0.34045	0.182000	0.20032	0.186000	0.17326	GGA		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1		NM_001004301		19	119	1	0	1.01871e-10	0.049695	1.11482e-10	19	119		
LILRA2	11027	broad.mit.edu	37	19	55085807	55085807	+	Missense_Mutation	SNP	C	C	T	rs555278253		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55085807C>T	ENST00000251377.3	+	4	243	c.110C>T	c.(109-111)tCt>tTt	p.S37F	LILRA2_ENST00000391737.1_Missense_Mutation_p.S25F|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Missense_Mutation_p.S37F|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S37F|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	37	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S37F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCAGGCTCTGTGATCATC	0.542													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19332	0.0		0.0	False		,,,				2504	0.0					uc002qgg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(109-111)TCT>TTT		leukocyte immunoglobulin-like receptor,							92.0	96.0	95.0					19																	55085807		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085807C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.110C>T	19.37:g.55085807C>T	ENSP00000251377:p.Ser37Phe					LILRA2_uc010ern.2_Missense_Mutation_p.S37F|LILRA2_uc002qgf.2_Missense_Mutation_p.S37F|LILRA2_uc010yfe.1_Missense_Mutation_p.S37F|LILRA2_uc010yff.1_Missense_Mutation_p.S25F|LILRA2_uc010ero.2_Missense_Mutation_p.S25F|LILRA2_uc010yfg.1_Missense_Mutation_p.S37F	p.S37F	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	199	+			37			Extracellular (Potential).|Ig-like C2-type 1.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.110C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152132	0.38021	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	2.6	1.55	0.23275	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.343970	0.16828	U	0.197876	T	0.32041	0.0816	M	0.80183	2.485	0.09310	N	0.999997	P;P;D;D;D	0.89917	0.793;0.902;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.258;0.939;0.997;0.995;0.993	T	0.02950	-1.1090	10	0.87932	D	0	.	4.7241	0.12933	0.0:0.8159:0.0:0.1841	.	37;37;25;37;37	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	F	37;37;37;37;25	ENSP00000388131:S37F;ENSP00000251377:S37F;ENSP00000375618:S37F;ENSP00000251376:S37F;ENSP00000375617:S25F	ENSP00000251376:S37F	S	+	2	0	LILRA2	59777619	0.095000	0.21747	0.187000	0.23214	0.030000	0.12068	1.768000	0.38511	1.464000	0.47987	0.508000	0.49915	TCT		0.542	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2				99	157	0	0	0	0.048971	0	99	157		
NLRP2	55655	broad.mit.edu	37	19	55493697	55493697	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55493697C>T	ENST00000543010.1	+	6	774	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	NLRP2_ENST00000538819.1_Silent_p.L187L|NLRP2_ENST00000448584.2_Silent_p.L211L|NLRP2_ENST00000339757.7_Silent_p.L189L|NLRP2_ENST00000391721.4_Silent_p.L187L|NLRP2_ENST00000537859.1_Silent_p.L189L|NLRP2_ENST00000427260.2_Silent_p.L188L|NLRP2_ENST00000263437.6_Silent_p.L208L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	211	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.L211L(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGGTGGTGCTGTATGGTCC	0.517																																						uc002qij.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(631-633)CTG>TTG		NLR family, pyrin domain containing 2							79.0	81.0	81.0					19																	55493697		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493697C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.631C>T	19.37:g.55493697C>T						NLRP2_uc010yfp.1_Silent_p.L188L|NLRP2_uc010esn.2_Silent_p.L187L|NLRP2_uc010eso.2_Silent_p.L208L|NLRP2_uc010esp.2_Silent_p.L189L	p.L211L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	717	+			211			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.631C>T	CCDS12913.1																																																																																				0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		63	125	0	0	0	0.048971	0	63	125		
ZIM3	114026	broad.mit.edu	37	19	57647056	57647056	+	Missense_Mutation	SNP	G	G	C	rs150862431	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:57647056G>C	ENST00000269834.1	-	5	1034	c.649C>G	c.(649-651)Cac>Gac	p.H217D	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	217					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.H217D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTCTGCGTGAGTTTTCTGA	0.428																																						uc002qnz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(649-651)CAC>GAC		zinc finger, imprinted 3		G	ASP/HIS	1,4405		0,1,2202	162.0	157.0	159.0		649	0.9	0.0	19	dbSNP_134	159	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ZIM3	NM_052882.1	81	0,6,6497	CC,CG,GG		0.0581,0.0227,0.0461	probably-damaging	217/473	57647056	6,13000	2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647056G>C	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.649C>G	19.37:g.57647056G>C	ENSP00000269834:p.His217Asp						p.H217D	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1035	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	217			C2H2-type 2.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.649C>G	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405789	0.42715	2.27E-4	5.81E-4	ENSG00000141946	ENST00000269834	D	0.88975	-2.45	1.97	0.874	0.19124	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95156	0.8430	H	0.94264	3.515	0.28673	N	0.905509	D	0.89917	1.0	D	0.85130	0.997	D	0.88297	0.2947	9	0.87932	D	0	.	9.3422	0.38087	0.0:0.2592:0.7408:0.0	.	217	Q96PE6	ZIM3_HUMAN	D	217	ENSP00000269834:H217D	ENSP00000269834:H217D	H	-	1	0	ZIM3	62338868	0.613000	0.27009	0.004000	0.12327	0.017000	0.09413	1.859000	0.39418	0.366000	0.24427	0.313000	0.20887	CAC		0.428	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1				40	209	0	0	0	0.092188	0	40	209		
MRPL35	51318	broad.mit.edu	37	2	86434448	86434448	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:86434448A>C	ENST00000337109.4	+	3	410	c.376A>C	c.(376-378)Aag>Cag	p.K126Q	MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000254644.8_Missense_Mutation_p.K126Q|MRPL35_ENST00000409180.1_Missense_Mutation_p.K126Q	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	126					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.K126Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGTGAGGAGAAAGGTGAGTCT	0.468																																						uc002srg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(376-378)AAG>CAG		mitochondrial ribosomal protein L35 isoform a							96.0	91.0	93.0					2																	86434448		2203	4300	6503	SO:0001583	missense	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86434448A>C	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.376A>C	2.37:g.86434448A>C	ENSP00000338389:p.Lys126Gln					MRPL35_uc002srf.3_Missense_Mutation_p.K126Q	p.K126Q	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN			3	434	+			126					A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	c.376A>C	CCDS1988.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680494	0.88542	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.15834	2.39;2.63;2.39	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	M	0.62154	1.92	0.54753	D	0.999982	B	0.34103	0.437	B	0.35550	0.205	T	0.02288	-1.1182	10	0.48119	T	0.1	-15.4011	14.9436	0.71012	1.0:0.0:0.0:0.0	.	126	Q9NZE8	RM35_HUMAN	Q	126	ENSP00000254644:K126Q;ENSP00000338389:K126Q;ENSP00000386255:K126Q	ENSP00000254644:K126Q	K	+	1	0	MRPL35	86287959	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.274000	0.58921	2.075000	0.62263	0.524000	0.50904	AAG		0.468	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2		NM_016622		20	56	0	0	0	0.069288	0	20	56		
IMP4	92856	broad.mit.edu	37	2	131103630	131103630	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:131103630G>C	ENST00000259239.3	+	7	1342	c.634G>C	c.(634-636)Gat>Cat	p.D212H	IMP4_ENST00000409935.1_Missense_Mutation_p.D212H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	212	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.D212H(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGTGCCCAAAGATGACAGCCA	0.592																																						uc002tra.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(634-636)GAT>CAT		IMP4, U3 small nucleolar ribonucleoprotein,							122.0	122.0	122.0					2																	131103630		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103630G>C	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.634G>C	2.37:g.131103630G>C	ENSP00000259239:p.Asp212His						p.D212H	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			7	651	+	Colorectal(110;0.1)		212			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.634G>C	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.93|18.93	3.728296|3.728296	0.69074|0.69074	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740|ENST00000452955	T;T;T;T|T	0.22539|0.22743	1.95;1.95;1.95;1.95|1.94	5.74|5.74	5.74|5.74	0.90152|0.90152	Brix domain (3);Anticodon-binding (1);|.	0.155348|.	0.64402|.	D|.	0.000020|.	T|T	0.36963|0.36963	0.0986|0.0986	L|L	0.51914|0.51914	1.62|1.62	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.16396|.	0.017|.	B|.	0.21546|.	0.035|.	T|T	0.00715|0.00715	-1.1597|-1.1597	10|7	0.62326|0.51188	D|T	0.03|0.08	-27.8813|-27.8813	17.8009|17.8009	0.88586|0.88586	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	212|.	Q96G21|.	IMP4_HUMAN|.	H|N	212;212;127;157|200	ENSP00000259239:D212H;ENSP00000386411:D212H;ENSP00000386716:D127H;ENSP00000389701:D157H|ENSP00000409371:K200N	ENSP00000259239:D212H|ENSP00000409371:K200N	D|K	+|+	1|3	0|2	IMP4|IMP4	130820100|130820100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.533000|6.533000	0.73829|0.73829	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.592	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2		NM_033416		18	89	0	0	0	0.038395	0	18	89		
TMEM163	81615	broad.mit.edu	37	2	135308215	135308215	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:135308215G>A	ENST00000281924.6	-	4	448	c.384C>T	c.(382-384)gaC>gaT	p.D128D		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	128						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)	p.D128D(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGGACGTCCAGGATGG	0.502																																						uc002ttx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(382-384)GAC>GAT		transmembrane protein 163							126.0	119.0	121.0					2																	135308215		2203	4300	6503	SO:0001819	synonymous_variant	81615					integral to membrane		g.chr2:135308215G>A		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.384C>T	2.37:g.135308215G>A						TMEM163_uc002tty.2_RNA	p.D128D	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	4	450	-			128			Helical; (Potential).		Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Silent	SNP	ENST00000281924.6	37	c.384C>T	CCDS2172.1																																																																																				0.502	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2		NM_030923		11	76	0	0	0	0.080935	0	11	76		
NXPH2	11249	broad.mit.edu	37	2	139428760	139428761	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:139428760_139428761GT>AA	ENST00000272641.3	-	2	632_633	c.526_527AC>TT	c.(526-528)ACc>TTc	p.T176F		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	176	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.T176S(1)|p.T176>?(1)|p.T176I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGTCTCCAAGGTAGACTGGGGG	0.47																																						uc002tvi.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(3)|skin(1)	4						c.(526-528)ACC>TTC		neurexophilin 2 precursor																																				SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139428760_139428761GT>AA	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.526_527delinsAA	2.37:g.139428760_139428761delinsAA	ENSP00000272641:p.Thr176Phe						p.T176F	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	526_527	-			176			IV (linker domain).		B7WP24|Q494R1|Q75QC3	Missense_Mutation	DNP	ENST00000272641.3	37	c.526_527AC>TT	CCDS46421.1																																																																																				0.470	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1				9	39	0	0	0	0.004672	0	9	39		
SCN3A	6328	broad.mit.edu	37	2	166003482	166003482	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:166003482C>G	ENST00000360093.3	-	12	1929	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E480Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E480Q|RN7SL455P_ENST00000580629.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	480					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E480Q(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCAACAGCTCTCCTAACCCA	0.443																																						uc002ucx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1438-1440)GAG>CAG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						122.0	122.0	122.0					2																	166003482		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003482C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1438G>C	2.37:g.166003482C>G	ENSP00000353206:p.Glu480Gln					SCN3A_uc002ucy.2_Missense_Mutation_p.E480Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E480Q|SCN3A_uc002uda.1_Missense_Mutation_p.E349Q|SCN3A_uc002udb.1_Missense_Mutation_p.E349Q	p.E480Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			12	1930	-			480					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1438G>C		.	.	.	.	.	.	.	.	.	.	C	13.33	2.203501	0.38905	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96011	-3.88;-3.88;-3.83;-3.71	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000005	D	0.89525	0.6740	N	0.08118	0	0.80722	D	1	B;B;P;P;P	0.34997	0.348;0.348;0.479;0.479;0.479	B;B;B;B;B	0.34138	0.085;0.085;0.176;0.176;0.176	D	0.87554	0.2467	10	0.17369	T	0.5	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	480;480;480;480;480	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	480	ENSP00000353206:E480Q;ENSP00000283254:E480Q;ENSP00000386726:E480Q;ENSP00000403348:E480Q	ENSP00000283254:E480Q	E	-	1	0	SCN3A	165711728	1.000000	0.71417	0.997000	0.53966	0.831000	0.47069	3.750000	0.55157	2.780000	0.95670	0.655000	0.94253	GAG		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		33	85	0	0	0	0.059317	0	33	85		
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A	rs541040798	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:179411904G>A	ENST00000591111.1	-	290	89649	c.89425C>T	c.(89425-89427)Cgt>Tgt	p.R29809C	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31450C|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 117. {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.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(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)			ATTGTATTACGTTCTTTCTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.002					uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(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.(86644-86646)CGT>TGT		titin isoform N2-A							268.0	266.0	266.0					2																	179411904		1914	4127	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411904G>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.89425C>T	2.37:g.179411904G>A	ENSP00000465570:p.Arg29809Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22577C|TTN_uc010zfi.1_Missense_Mutation_p.R22510C|TTN_uc010zfj.1_Missense_Mutation_p.R22385C	p.R28882C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86868	-			29809					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.86644C>T		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465124	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73729	0.3624	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.78833	-0.2048	9	0.87932	D	0	.	12.345	0.55116	0.0:0.1285:0.7377:0.1338	.	22385;22510;22577;29809	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	28882;22385;22577;22510;22382	ENSP00000343764:R28882C;ENSP00000434586:R22385C;ENSP00000340554:R22577C;ENSP00000352154:R22510C	ENSP00000340554:R22577C	R	-	1	0	TTN	179120150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.351000	0.59398	1.549000	0.49425	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		56	215	0	0	0	0.048971	0	56	215		
GTF3C3	9330	broad.mit.edu	37	2	197650253	197650253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:197650253G>C	ENST00000263956.3	-	7	1042	c.953C>G	c.(952-954)tCa>tGa	p.S318*	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S318*	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	318					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|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)	p.S318*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGGTGTTTTGAGAAAGCTTC	0.343																																						uc002uts.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|breast(3)|pancreas(1)	7						c.(952-954)TCA>TGA		general transcription factor IIIC, polypeptide							129.0	120.0	123.0					2																	197650253		2202	4300	6502	SO:0001587	stop_gained	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197650253G>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.953C>G	2.37:g.197650253G>C	ENSP00000263956:p.Ser318*					GTF3C3_uc010zgu.1_Nonsense_Mutation_p.S318*|GTF3C3_uc002utu.2_Nonsense_Mutation_p.S318*|GTF3C3_uc002utt.3_5'UTR	p.S318*	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			7	1043	-			318			TPR 5.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Nonsense_Mutation	SNP	ENST00000263956.3	37	c.953C>G	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198426	0.94997	.	.	ENSG00000119041	ENST00000263956;ENST00000448087;ENST00000409364	.	.	.	4.74	4.74	0.60224	.	0.345250	0.27654	N	0.018419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.7519	14.259	0.66073	0.0:0.1498:0.8502:0.0	.	.	.	.	X	318;3;318	.	ENSP00000263956:S318X	S	-	2	0	GTF3C3	197358498	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.620000	0.36976	2.176000	0.68965	0.462000	0.41574	TCA		0.343	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1				11	48	0	0	0	0.080935	0	11	48		
C20orf96	140680	broad.mit.edu	37	20	256641	256641	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:256641G>C	ENST00000360321.2	-	10	1137	c.999C>G	c.(997-999)gtC>gtG	p.V333V	C20orf96_ENST00000382369.5_Silent_p.V298V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	333								p.V333V(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTCAAATATGACCTCTCGGG	0.512																																						uc002wde.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(997-999)GTC>GTG		hypothetical protein LOC140680							103.0	99.0	100.0					20																	256641		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:256641G>C	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.999C>G	20.37:g.256641G>C						C20orf96_uc002wdc.2_Silent_p.V280V|C20orf96_uc002wdd.2_Silent_p.V298V|C20orf96_uc010zpi.1_Silent_p.V280V|C20orf96_uc010zpj.1_3'UTR|C20orf96_uc010zpk.1_3'UTR	p.V333V	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		10	1138	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	333					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.999C>G	CCDS12994.1																																																																																				0.512	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2		NM_153269		18	80	0	0	0	0.038395	0	18	80		
SIRPB2	284759	broad.mit.edu	37	20	1459226	1459226	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:1459226A>C	ENST00000359801.3	-	3	514	c.478T>G	c.(478-480)Tgg>Ggg	p.W160G	SIRPB2_ENST00000537284.1_Missense_Mutation_p.W22G|SIRPB2_ENST00000444444.2_Missense_Mutation_p.W62G|SIRPB2_ENST00000608747.1_5'UTR	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	33	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W160G(1)|p.W259G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGATGATCCACAGGTCTGGT	0.547																																						uc002wfg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(478-480)TGG>GGG		signal-regulatory protein beta 2 isoform 1							51.0	46.0	48.0					20																	1459226		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1459226A>C	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.478T>G	20.37:g.1459226A>C	ENSP00000352849:p.Trp160Gly					SIRPB2_uc002wfh.3_Missense_Mutation_p.W62G|SIRPB2_uc010zpr.1_Missense_Mutation_p.W22G	p.W160G	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			3	706	-			160			Ig-like V-type 2.|Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.478T>G	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539177	0.27475	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000537284;ENST00000381630;ENST00000381628	T;T;T;T	0.02085	4.76;4.53;4.46;4.52	4.29	-3.48	0.04739	Immunoglobulin-like (1);	1.569360	0.03512	N	0.219710	T	0.04272	0.0118	L	0.44542	1.39	0.09310	N	0.999991	P;P;P	0.50819	0.939;0.901;0.549	P;P;P	0.52823	0.71;0.708;0.5	T	0.38735	-0.9647	10	0.26408	T	0.33	-17.7404	5.8246	0.18546	0.3415:0.0:0.4957:0.1629	.	22;62;160	F5H204;E9PCW6;Q5JXA9	.;.;SIRB2_HUMAN	G	160;62;22;62;62	ENSP00000352849:W160G;ENSP00000402438:W62G;ENSP00000445632:W22G;ENSP00000371043:W62G	ENSP00000352849:W160G	W	-	1	0	SIRPB2	1407226	0.407000	0.25352	0.691000	0.30163	0.524000	0.34500	-0.173000	0.09854	-0.596000	0.05821	-0.411000	0.06167	TGG		0.547	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1		NM_178459		10	76	0	0	0	0.069234	0	10	76		
CRNKL1	51340	broad.mit.edu	37	20	20026049	20026049	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:20026049C>T	ENST00000377340.2	-	7	1218	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R384Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R235Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	396					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R396L(1)|p.R396Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATACACTTTCCGTGCATGGGC	0.418																																						uc002wrs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(2)|large_intestine(1)	3						c.(1186-1188)CGG>CAG		crooked neck-like 1 protein							171.0	167.0	168.0					20																	20026049		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20026049C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1187G>A	20.37:g.20026049C>T	ENSP00000366557:p.Arg396Gln						p.R396Q	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			7	1219	-			396			HAT 6.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1187G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619479	0.96649	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.09073	3.02;3.02;3.02	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.63301	-0.6668	10	0.72032	D	0.01	-19.313	20.0466	0.97609	0.0:1.0:0.0:0.0	.	396	Q9BZJ0	CRNL1_HUMAN	Q	384;396;235	ENSP00000366544:R384Q;ENSP00000366557:R396Q;ENSP00000440733:R235Q	ENSP00000366544:R384Q	R	-	2	0	CRNKL1	19974049	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.818000	0.86416	2.729000	0.93468	0.563000	0.77884	CGG		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				44	190	0	0	0	0.104719	0	44	190		
TGM2	7052	broad.mit.edu	37	20	36758657	36758657	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:36758657C>T	ENST00000361475.2	-	13	2201	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	TGM2_ENST00000536701.1_Silent_p.V595V|TGM2_ENST00000536724.1_Silent_p.V616V	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	676					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V676V(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGAAGCCCTTCACAGCCTTCA	0.587																																						uc002xhr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2026-2028)GTG>GTA		transglutaminase 2 isoform a	L-Glutamine(DB00130)						57.0	51.0	53.0					20																	36758657		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36758657C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.2028G>A	20.37:g.36758657C>T						TGM2_uc002xhq.2_Silent_p.V277V|TGM2_uc010zvx.1_Silent_p.V595V|TGM2_uc010zvy.1_Silent_p.V616V	p.V676V	NM_004613	NP_004604	P21980	TGM2_HUMAN			13	2128	-		Myeloproliferative disorder(115;0.00878)	676					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.2028G>A	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2		NM_198951		4	31	0	0	0	0.009096	0	4	31		
CDH22	64405	broad.mit.edu	37	20	44856245	44856245	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:44856245A>T	ENST00000372262.3	-	3	972	c.572T>A	c.(571-573)aTg>aAg	p.M191K	CDH22_ENST00000537909.1_Missense_Mutation_p.M191K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M191K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATCCGAGGCCATCACCTGCAT	0.682																																						uc002xrm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(571-573)ATG>AAG		cadherin 22 precursor							36.0	30.0	32.0					20																	44856245		2202	4299	6501	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44856245A>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.572T>A	20.37:g.44856245A>T	ENSP00000361336:p.Met191Lys					CDH22_uc010ghk.1_Missense_Mutation_p.M191K	p.M191K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			3	973	-		Myeloproliferative disorder(115;0.0122)	191			Extracellular (Potential).|Cadherin 2.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.572T>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.433339	0.62844	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.49139	0.79;0.79	5.0	5.0	0.66597	Cadherin (5);Cadherin-like (1);	0.110120	0.64402	D	0.000010	T	0.25419	0.0618	N	0.02685	-0.53	0.41652	D	0.989137	B	0.28783	0.222	B	0.33960	0.173	T	0.17440	-1.0369	10	0.54805	T	0.06	.	8.6587	0.34079	0.9156:0.0:0.0844:0.0	.	191	Q9UJ99	CAD22_HUMAN	K	191	ENSP00000361336:M191K;ENSP00000437790:M191K	ENSP00000361336:M191K	M	-	2	0	CDH22	44289652	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.910000	0.69931	2.091000	0.63221	0.460000	0.39030	ATG		0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		12	5	0	0	0	0.043863	0	12	5		
ZNF831	128611	broad.mit.edu	37	20	57767955	57767955	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:57767955G>T	ENST00000371030.2	+	1	1881	c.1881G>T	c.(1879-1881)acG>acT	p.T627T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T627T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGATGAGACGTTCAAAAGGA	0.592																																						uc002yan.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(13)|ovary(1)	14						c.(1879-1881)ACG>ACT		zinc finger protein 831							58.0	68.0	64.0					20																	57767955		2052	4194	6246	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767955G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1881G>T	20.37:g.57767955G>T							p.T627T	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1881	+	all_lung(29;0.0085)		627					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1881G>T	CCDS42894.1																																																																																				0.592	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		11	85	1	0	2.68362e-12	0.09319	2.99327e-12	11	85		
TIAM1	7074	broad.mit.edu	37	21	32575277	32575277	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:32575277C>T	ENST00000286827.3	-	13	2911	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	814	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.E814K(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						ATTTTGTTTTCTATTAGAAAT	0.378																																						uc002yow.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2440-2442)GAA>AAA		T-cell lymphoma invasion and metastasis 1							176.0	170.0	172.0					21																	32575277		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.chr21:32575277C>T		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.2440G>A	21.37:g.32575277C>T	ENSP00000286827:p.Glu814Lys					TIAM1_uc011adk.1_Missense_Mutation_p.E814K|TIAM1_uc011adl.1_Intron	p.E814K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			13	2912	-			814			RBD.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2440G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439736	0.83885	.	.	ENSG00000156299	ENST00000286827;ENST00000399841	T	0.42513	0.97	5.18	5.18	0.71444	Raf-like Ras-binding (3);	0.168506	0.51477	D	0.000091	T	0.33498	0.0865	N	0.24115	0.695	0.80722	D	1	P	0.36354	0.549	B	0.34536	0.185	T	0.29549	-1.0008	10	0.72032	D	0.01	.	18.8922	0.92408	0.0:1.0:0.0:0.0	.	814	Q13009	TIAM1_HUMAN	K	814;655	ENSP00000286827:E814K	ENSP00000286827:E814K	E	-	1	0	TIAM1	31497148	1.000000	0.71417	0.487000	0.27428	0.981000	0.71138	7.077000	0.76814	2.685000	0.91497	0.563000	0.77884	GAA		0.378	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		26	207	0	0	0	0.030593	0	26	207		
ITSN1	6453	broad.mit.edu	37	21	35255954	35255954	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:35255954G>A	ENST00000381318.3	+	36	4943	c.4655G>A	c.(4654-4656)cGa>cAa	p.R1552Q	ITSN1_ENST00000399367.3_Missense_Mutation_p.R1547Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.R1552Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1491Q|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1552	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1552Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TATACTCTCCGAGCAGAAAGC	0.537																																						uc002yta.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(4654-4656)CGA>CAA		intersectin 1 isoform ITSN-l							94.0	93.0	93.0					21																	35255954		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35255954G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4655G>A	21.37:g.35255954G>A	ENSP00000370719:p.Arg1552Gln					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.R1547Q|ITSN1_uc002ytj.2_Missense_Mutation_p.R1491Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_Intron	p.R1552Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			36	4923	+			1552			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4655G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155329	0.78114	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.23	5.23	0.72850	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.078878	0.50627	D	0.000113	T	0.64994	0.2649	N	0.26092	0.79	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.989	D;B;B	0.63957	0.92;0.216;0.369	T	0.68228	-0.5464	10	0.66056	D	0.02	.	19.001	0.92834	0.0:0.0:1.0:0.0	.	1491;1547;1552	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	Q	1552;1552;1481;1547;1491;88	ENSP00000370719:R1552Q;ENSP00000370685:R1552Q;ENSP00000382301:R1547Q;ENSP00000387377:R1491Q;ENSP00000409800:R88Q	ENSP00000370685:R1552Q	R	+	2	0	ITSN1	34177824	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.227000	0.65305	2.701000	0.92244	0.650000	0.86243	CGA		0.537	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		29	199	0	0	0	0.037714	0	29	199		
MCM3AP	8888	broad.mit.edu	37	21	47674341	47674341	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:47674341C>T	ENST00000397708.1	-	20	4355	c.4101G>A	c.(4099-4101)ccG>ccA	p.P1367P	MCM3AP_ENST00000291688.1_Silent_p.P1367P|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000430259.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1367					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.P1367P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCTACATCCGGCAACACCA	0.617																																						uc002zir.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(4099-4101)CCG>CCA		minichromosome maintenance complex component 3							98.0	85.0	89.0					21																	47674341		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47674341C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4101G>A	21.37:g.47674341C>T						MCM3AP_uc002zip.1_Silent_p.P108P|MCM3AP_uc002ziq.1_Silent_p.P294P	p.P1367P	NM_003906	NP_003897	O60318	MCM3A_HUMAN			19	4137	-	Breast(49;0.112)		1367					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.4101G>A	CCDS13734.1																																																																																				0.617	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		9	153	0	0	0	0.047766	0	9	153		
UPB1	51733	broad.mit.edu	37	22	24909450	24909450	+	Missense_Mutation	SNP	C	C	A	rs138608016		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:24909450C>A	ENST00000326010.5	+	5	962	c.618C>A	c.(616-618)aaC>aaA	p.N206K	UPB1_ENST00000413389.2_Missense_Mutation_p.N138K	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	206	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.N206N(1)|p.N206K(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTGATTTCAACGAGGTGAGCC	0.512																																						uc003aaf.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.N206N(1)	urinary_tract(1)|ovary(1)	ovary(2)	2						c.(616-618)AAC>AAA		beta-ureidopropionase							52.0	43.0	46.0					22																	24909450		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24909450C>A	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.618C>A	22.37:g.24909450C>A	ENSP00000324343:p.Asn206Lys					UPB1_uc003aae.2_Missense_Mutation_p.N138K|UPB1_uc011ajt.1_Missense_Mutation_p.N206K	p.N206K	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN			5	739	+	Colorectal(2;0.0339)		206			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.618C>A	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755352	0.31046	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.86865	-2.18;-2.18	5.5	-11.0	0.00169	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.181563	0.56097	D	0.000021	D	0.91287	0.7253	M	0.80422	2.495	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95304	0.8406	10	0.44086	T	0.13	-1.2988	20.3621	0.98856	0.0:0.2316:0.0:0.7684	.	206;138	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	K	138;206	ENSP00000406057:N138K;ENSP00000324343:N206K	ENSP00000324343:N206K	N	+	3	2	UPB1	23239450	0.001000	0.12720	0.139000	0.22197	0.420000	0.31355	-1.385000	0.02540	-2.544000	0.00483	-2.049000	0.00408	AAC		0.512	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1				76	49	1	0	5.21738e-30	0.048971	6.01208e-30	76	49		
AP1B1	162	broad.mit.edu	37	22	29730359	29730359	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:29730359G>C	ENST00000405198.1	-	16	2235	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000357586.2_Nonsense_Mutation_p.S735*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S728*|SNORD125_ENST00000459538.1_RNA			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	735					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.S735*(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAGGTGCCTGAGATCTCCAG	0.617																																						uc003afj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2203-2205)TCA>TGA		adaptor-related protein complex 1 beta 1 subunit							78.0	67.0	70.0					22																	29730359		2203	4300	6503	SO:0001587	stop_gained	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.chr22:29730359G>C	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.2204C>G	22.37:g.29730359G>C	ENSP00000384194:p.Ser735*					AP1B1_uc003afi.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afk.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afl.2_Intron|AP1B1_uc003afh.2_5'Flank|AP1B1_uc011ako.1_Nonsense_Mutation_p.S288*|SNORD125_uc010gvn.1_5'Flank	p.S735*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			17	2388	-			735					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Nonsense_Mutation	SNP	ENST00000405198.1	37	c.2204C>G	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643293	0.96704	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000402502;ENST00000415447	.	.	.	5.56	5.56	0.83823	.	0.113150	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-9.6812	14.7062	0.69191	0.0:0.145:0.855:0.0	.	.	.	.	X	735;728;728;735;728;728	.	ENSP00000348297:S728X	S	-	2	0	AP1B1	28060359	1.000000	0.71417	0.974000	0.42286	0.005000	0.04900	3.921000	0.56454	2.616000	0.88540	0.563000	0.77884	TCA		0.617	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		13	37	0	0	0	0.09319	0	13	37		
MAPKAPK3	7867	broad.mit.edu	37	3	50684226	50684226	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50684226C>A	ENST00000446044.1	+	11	1481	c.885C>A	c.(883-885)atC>atA	p.I295I	MAPKAPK3_ENST00000357955.2_Silent_p.I295I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|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)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.I295I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCTGACCATCACTCAGTTCA	0.622																																						uc003day.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(883-885)ATC>ATA		mitogen-activated protein kinase-activated							92.0	80.0	84.0					3																	50684226		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50684226C>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.885C>A	3.37:g.50684226C>A						MAPKAPK3_uc003daz.1_Silent_p.I295I|MAPKAPK3_uc003dba.1_Silent_p.I295I|MAPKAPK3_uc010hlr.1_Silent_p.I295I	p.I295I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	11	1481	+			295			Protein kinase.		B5BU67	Silent	SNP	ENST00000446044.1	37	c.885C>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	9.484	1.098888	0.20552	.	.	ENSG00000114738	ENST00000451680	.	.	.	5.44	1.61	0.23674	.	.	.	.	.	T	0.57681	0.2070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51379	-0.8713	4	.	.	.	-29.9187	9.1231	0.36799	0.0:0.5619:0.0:0.4381	.	.	.	.	N	37	.	.	H	+	1	0	MAPKAPK3	50659230	0.001000	0.12720	0.585000	0.28666	0.973000	0.67179	-0.090000	0.11163	0.422000	0.26005	0.655000	0.94253	CAC		0.622	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1		NM_004635		14	70	1	0	1.5739e-10	0.028581	1.71161e-10	14	70		
MAPKAPK3	7867	broad.mit.edu	37	3	50685381	50685381	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50685381C>T	ENST00000446044.1	+	13	1649	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	MAPKAPK3_ENST00000357955.2_Silent_p.I351I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	351	p38 MAPK-binding site. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|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)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.I351I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGTGAAGATCAAGGACCTGA	0.552																																						uc003day.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1051-1053)ATC>ATT		mitogen-activated protein kinase-activated							119.0	114.0	115.0					3																	50685381		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50685381C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1053C>T	3.37:g.50685381C>T						MAPKAPK3_uc003daz.1_Silent_p.I351I|MAPKAPK3_uc003dba.1_Silent_p.I351I|MAPKAPK3_uc010hlr.1_Silent_p.I351I	p.I351I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	13	1649	+			351					B5BU67	Silent	SNP	ENST00000446044.1	37	c.1053C>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402213	0.25291	.	.	ENSG00000114738	ENST00000451680	.	.	.	5.88	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.1484	11.8237	0.52254	0.0:0.8578:0.0:0.1422	.	.	.	.	X	66	.	.	Q	+	1	0	MAPKAPK3	50660385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.094000	0.41719	1.497000	0.48584	0.655000	0.94253	CAA		0.552	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1		NM_004635		42	147	0	0	0	0.09836	0	42	147		
SLMAP	7871	broad.mit.edu	37	3	57827025	57827025	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:57827025G>A	ENST00000428312.1	+	3	440		c.e3-1		SLMAP_ENST00000383718.3_Splice_Site|SLMAP_ENST00000416870.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000295951.3_Splice_Site			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.?(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTTTCAACCAGTTACCCATGG	0.318																																						uc003dje.1		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e3-1		sarcolemma associated protein							66.0	68.0	67.0					3																	57827025		2203	4300	6503	SO:0001630	splice_region_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57827025G>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.347-1G>A	3.37:g.57827025G>A						SLMAP_uc003djc.1_Splice_Site_p.V116_splice|SLMAP_uc003djd.1_Splice_Site_p.V116_splice|SLMAP_uc003djf.1_Splice_Site_p.V116_splice	p.V116_splice	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	3	552	+								Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Splice_Site	SNP	ENST00000428312.1	37	c.347_splice		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874833	0.72180	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	.	.	.	4.55	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0079	0.58717	0.0799:0.0:0.9201:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLMAP	57802065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.973000	0.93428	1.016000	0.39470	0.655000	0.94253	.		0.318	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159	Intron	51	20	0	0	0	0.048971	0	51	20		
CBLB	868	broad.mit.edu	37	3	105378062	105378062	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:105378062C>T	ENST00000264122.4	-	19	3022	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	CBLB_ENST00000394027.3_Missense_Mutation_p.A879T|CBLB_ENST00000407712.1_Missense_Mutation_p.A116T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	901	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A901T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGCTGGTGCCTGTGAACCA	0.443			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2701-2703)GCA>ACA		Cas-Br-M (murine) ecotropic retroviral							70.0	75.0	74.0					3																	105378062		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105378062C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2701G>A	3.37:g.105378062C>T	ENSP00000264122:p.Ala901Thr					CBLB_uc003dwa.2_Missense_Mutation_p.A116T|CBLB_uc011bhi.1_Missense_Mutation_p.A879T	p.A901T	NM_170662	NP_733762	Q13191	CBLB_HUMAN			19	3023	-			901			Pro-rich.|Interaction with SH3KBP1.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2701G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404418	0.83230	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	D;D;T;D	0.86865	-1.55;-2.14;-1.46;-2.18	5.65	4.78	0.61160	.	0.114197	0.64402	N	0.000011	D	0.88941	0.6574	L	0.27053	0.805	0.80722	D	1	B;D;D	0.69078	0.003;0.997;0.997	B;D;D	0.77004	0.005;0.989;0.989	D	0.90333	0.4353	10	0.87932	D	0	-9.9174	14.3239	0.66505	0.0:0.9288:0.0:0.0712	.	879;901;879	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	T	240;901;116;879	ENSP00000377598:A240T;ENSP00000264122:A901T;ENSP00000384170:A116T;ENSP00000377595:A879T	ENSP00000264122:A901T	A	-	1	0	CBLB	106860752	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.754000	0.74909	1.370000	0.46153	0.655000	0.94253	GCA		0.443	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		4	74	0	0	0	0.014758	0	4	74		
DNAJB11	51726	broad.mit.edu	37	3	186299223	186299223	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:186299223G>C	ENST00000439351.1	+	6	1449	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	174					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E174Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTGTCGGCAAGAGATGCGGAC	0.517																																						uc003fqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(520-522)GAG>CAG		DnaJ (Hsp40) homolog, subfamily B, member 11							96.0	93.0	94.0					3																	186299223		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299223G>C	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.520G>C	3.37:g.186299223G>C	ENSP00000414398:p.Glu174Gln						p.E174Q	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	5	740	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		174					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.520G>C	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919309	0.92249	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.66995	-0.24;-0.24	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.35249	1.045	0.80722	D	1	D	0.61080	0.989	P	0.52031	0.688	T	0.59322	-0.7476	10	0.21540	T	0.41	-27.0749	12.8604	0.57910	0.0787:0.0:0.9213:0.0	.	174	Q9UBS4	DJB11_HUMAN	Q	174	ENSP00000414398:E174Q;ENSP00000265028:E174Q	ENSP00000265028:E174Q	E	+	1	0	DNAJB11	187781917	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1				31	139	0	0	0	0.069456	0	31	139		
FAM193A	8603	broad.mit.edu	37	4	2692602	2692602	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:2692602C>T	ENST00000324666.5	+	13	2186	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	FAM193A_ENST00000502458.1_Missense_Mutation_p.T634M|FAM193A_ENST00000545951.1_Missense_Mutation_p.T612M|FAM193A_ENST00000505311.1_Missense_Mutation_p.T612M|FAM193A_ENST00000382839.3_Missense_Mutation_p.T612M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	612								p.T612M(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCATGGCCACGTCATCAGCC	0.448																																						uc010icl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1834-1836)ACG>ATG		hypothetical protein LOC8603							105.0	98.0	100.0					4																	2692602		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2692602C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1835C>T	4.37:g.2692602C>T	ENSP00000324587:p.Thr612Met					FAM193A_uc010ick.2_Missense_Mutation_p.T812M|FAM193A_uc003gfd.2_Missense_Mutation_p.T612M|FAM193A_uc011bvm.1_Missense_Mutation_p.T634M|FAM193A_uc011bvn.1_Missense_Mutation_p.T612M|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.T466M	p.T612M	NM_003704	NP_003695	P78312	F193A_HUMAN			13	2186	+			612					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1835C>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738170	0.89573	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	.	0.046260	0.85682	D	0.000000	T	0.76615	0.4012	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76454	-0.2953	10	0.54805	T	0.06	-19.8792	18.6414	0.91397	0.0:1.0:0.0:0.0	.	612;634;612;634;612	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	612;612;612;634;466	ENSP00000372290:T612M;ENSP00000324587:T612M;ENSP00000443617:T612M;ENSP00000427505:T634M;ENSP00000427260:T466M	ENSP00000324587:T612M	T	+	2	0	FAM193A	2662400	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.293000	0.78740	2.658000	0.90341	0.549000	0.68633	ACG		0.448	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704		15	92	0	0	0	0.0333	0	15	92		
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:71347033C>T	ENST00000304887.5	+	3	762	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000413702.1_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587																																						uc011cat.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(571-573)GCC>GTC		mucin 7, secreted precursor							359.0	290.0	314.0					4																	71347033		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347033C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.572C>T	4.37:g.71347033C>T	ENSP00000302021:p.Ala191Val					MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA	p.A191V	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	860	+			191			2.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.572C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097885	0.20552	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59772	0.24;0.24;0.24	1.73	1.73	0.24493	.	.	.	.	.	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.17228	-1.0376	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	V	191	ENSP00000407422:A191V;ENSP00000400585:A191V;ENSP00000302021:A191V	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291		6	165	0	0	0	0.047766	0	6	165		
AFM	173	broad.mit.edu	37	4	74363404	74363404	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:74363404C>G	ENST00000226355.3	+	10	1320	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	409	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.L409L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAAAGCCTCAAGATGGTAC	0.338																																						uc003hhb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1225-1227)CTC>CTG		afamin precursor							94.0	91.0	92.0					4																	74363404		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74363404C>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1227C>G	4.37:g.74363404C>G							p.L409L	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1258	+	Breast(15;0.00102)		409			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.1227C>G	CCDS3557.1																																																																																				0.338	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2				13	29	0	0	0	0.024245	0	13	29		
SEC31A	22872	broad.mit.edu	37	4	83776177	83776177	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:83776177G>A	ENST00000395310.2	-	17	2069	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	SEC31A_ENST00000432794.1_Silent_p.I629I|SEC31A_ENST00000448323.1_Silent_p.I629I|SEC31A_ENST00000264405.5_Silent_p.I362I|SEC31A_ENST00000508502.1_Silent_p.I629I|SEC31A_ENST00000355196.2_Silent_p.I629I|SEC31A_ENST00000513858.1_Silent_p.I590I|SEC31A_ENST00000326950.5_Silent_p.I590I|SEC31A_ENST00000508479.1_Silent_p.I629I|SEC31A_ENST00000509142.1_Silent_p.I629I|SEC31A_ENST00000505984.1_Silent_p.I590I|SEC31A_ENST00000348405.4_Silent_p.I590I|SEC31A_ENST00000505472.1_Silent_p.I629I|SEC31A_ENST00000500777.2_Silent_p.I590I|SEC31A_ENST00000443462.2_Silent_p.I624I|SEC31A_ENST00000311785.7_Silent_p.I629I	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	629					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I629I(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCACTGCAGTGATGAGCTTGA	0.348																																						uc003hnf.2		NaN																SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - coding silent(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1885-1887)ATC>ATT		SEC31 homolog A isoform 1							61.0	59.0	59.0					4																	83776177		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83776177G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1887C>T	4.37:g.83776177G>A						SEC31A_uc003hne.2_Silent_p.I362I|SEC31A_uc011ccl.1_Silent_p.I590I|SEC31A_uc003hnl.2_Silent_p.I590I|SEC31A_uc003hng.2_Silent_p.I629I|SEC31A_uc003hnh.2_Silent_p.I629I|SEC31A_uc003hni.2_Silent_p.I629I|SEC31A_uc003hnj.2_Silent_p.I590I|SEC31A_uc011ccm.1_Silent_p.I624I|SEC31A_uc011ccn.1_Silent_p.I629I|SEC31A_uc003hnk.2_Silent_p.I590I|SEC31A_uc003hnm.2_Silent_p.I629I|SEC31A_uc003hnn.1_Silent_p.I629I	p.I629I	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			17	2051	-		Hepatocellular(203;0.114)	629					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.1887C>T	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087062	0.20390	.	.	ENSG00000138674	ENST00000507828;ENST00000512664	.	.	.	5.38	1.43	0.22495	.	.	.	.	.	T	0.65770	0.2723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61594	-0.7031	4	.	.	.	-6.1973	12.6453	0.56731	0.1864:0.0:0.8136:0.0	.	.	.	.	Y	246;144	.	.	H	-	1	0	SEC31A	83995201	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.880000	0.39628	0.193000	0.20303	0.557000	0.71058	CAC		0.348	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211		7	34	0	0	0	0.02938	0	7	34		
MTTP	4547	broad.mit.edu	37	4	100532321	100532321	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:100532321G>C	ENST00000265517.5	+	13	1994	c.1791G>C	c.(1789-1791)ctG>ctC	p.L597L	MTTP_ENST00000457717.1_Silent_p.L597L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.L624L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	597	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L597L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTCGAGTTCTGAAGGAAATGG	0.393																																						uc003hvc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(1789-1791)CTG>CTC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						147.0	136.0	140.0					4																	100532321		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532321G>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1791G>C	4.37:g.100532321G>C						MTTP_uc011cej.1_Silent_p.L624L	p.L597L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2047	+			597			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.1791G>C	CCDS3651.1																																																																																				0.393	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				22	86	0	0	0	0.0918	0	22	86		
CENPE	1062	broad.mit.edu	37	4	104080302	104080302	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:104080302G>C	ENST00000265148.3	-	22	2555	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L	CENPE_ENST00000380026.3_Missense_Mutation_p.F797L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	822					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.F822L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGGGTTTTGAAATTTTGGA	0.348																																						uc003hxb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(4)	9						c.(2464-2466)TTC>TTG		centromere protein E							130.0	132.0	131.0					4																	104080302		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104080302G>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2466C>G	4.37:g.104080302G>C	ENSP00000265148:p.Phe822Leu					CENPE_uc003hxc.1_Missense_Mutation_p.F797L	p.F822L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	22	2556	-			822			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2466C>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105971	0.01828	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.76316	-1.01;-1.01;-1.01	5.03	-4.98	0.03019	.	.	.	.	.	T	0.45637	0.1352	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.46219	-0.9207	9	0.02654	T	1	.	3.701	0.08382	0.2325:0.2751:0.4035:0.0889	.	797;822	Q02224-3;Q02224	.;CENPE_HUMAN	L	822;822;797;822	ENSP00000265148:F822L;ENSP00000369365:F797L;ENSP00000423981:F822L	ENSP00000265148:F822L	F	-	3	2	CENPE	104299751	0.928000	0.31464	0.000000	0.03702	0.581000	0.36288	0.290000	0.18975	-0.974000	0.03550	0.650000	0.86243	TTC		0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					11	71	0	0	0	0.069234	0	11	71		
ANK2	287	broad.mit.edu	37	4	114290876	114290876	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:114290876G>A	ENST00000357077.4	+	43	11578	c.11525G>A	c.(11524-11526)cGg>cAg	p.R3842Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R1748Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R409Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3809Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R933Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1757Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3842					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3842Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTCTCCGCGGAAAACCAGC	0.532																																						uc003ibe.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11524-11526)CGG>CAG		ankyrin 2 isoform 1							80.0	73.0	75.0					4																	114290876		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114290876G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11525G>A	4.37:g.114290876G>A	ENSP00000349588:p.Arg3842Gln					ANK2_uc003ibd.3_Missense_Mutation_p.R1748Q|ANK2_uc003ibf.3_Missense_Mutation_p.R1757Q|ANK2_uc011cgc.1_Missense_Mutation_p.R933Q|ANK2_uc003ibg.3_Missense_Mutation_p.R741Q|ANK2_uc003ibh.3_Missense_Mutation_p.R431Q|ANK2_uc011cgd.1_Missense_Mutation_p.R1144Q	p.R3842Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3809					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11525G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066551	0.36470	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;T;T;T;T;D;D	0.96232	-0.27;-0.25;-0.31;-0.32;-1.03;-2.05;-3.95	5.4	-0.798	0.10905	.	1.211330	0.06474	N	0.731612	D	0.93609	0.7959	M	0.68317	2.08	0.09310	N	1	P;B;D;B;B;B	0.54047	0.824;0.005;0.964;0.104;0.17;0.062	B;B;B;B;B;B	0.39904	0.06;0.003;0.313;0.024;0.01;0.03	D	0.85120	0.0968	10	0.29301	T	0.29	.	6.7793	0.23636	0.3335:0.1096:0.5569:0.0	.	933;792;758;1757;3842;1748	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	Q	1748;792;1757;3842;3809;1748;933;409;852	ENSP00000421067:R1748Q;ENSP00000378044:R1757Q;ENSP00000349588:R3842Q;ENSP00000264366:R3809Q;ENSP00000426944:R933Q;ENSP00000421023:R409Q;ENSP00000422498:R852Q	ENSP00000264366:R3809Q	R	+	2	0	ANK2	114510325	0.351000	0.24887	0.000000	0.03702	0.004000	0.04260	0.544000	0.23253	-0.448000	0.07128	-1.112000	0.02068	CGG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		11	68	0	0	0	0.080935	0	11	68		
FAT4	79633	broad.mit.edu	37	4	126336800	126336800	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:126336800A>C	ENST00000394329.3	+	5	6695	c.6682A>C	c.(6682-6684)Act>Cct	p.T2228P	FAT4_ENST00000335110.5_Missense_Mutation_p.T526P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2228	Cadherin 21. {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.T2228P(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						CTACCATTTAACTGTTCAGGC	0.438																																						uc003ifj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6682-6684)ACT>CCT		FAT tumor suppressor homolog 4 precursor							126.0	124.0	124.0					4																	126336800		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336800A>C	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.6682A>C	4.37:g.126336800A>C	ENSP00000377862:p.Thr2228Pro					FAT4_uc011cgp.1_Missense_Mutation_p.T526P	p.T2228P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6682	+			2228			Cadherin 21.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6682A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218396	0.39201	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02974	4.09;4.09	5.46	2.99	0.34606	Cadherin (4);Cadherin-like (1);	0.236352	0.21020	U	0.081522	T	0.08044	0.0201	M	0.76433	2.335	0.32942	D	0.518481	P;P	0.48834	0.714;0.916	B;P	0.52554	0.34;0.702	T	0.07770	-1.0755	10	0.54805	T	0.06	.	6.9719	0.24654	0.7948:0.0:0.0719:0.1334	.	526;2228	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	P	2228;526	ENSP00000377862:T2228P;ENSP00000335169:T526P	ENSP00000335169:T526P	T	+	1	0	FAT4	126556250	1.000000	0.71417	0.819000	0.32651	0.509000	0.34042	3.062000	0.49971	0.362000	0.24319	0.455000	0.32223	ACT		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		25	121	0	0	0	0.099896	0	25	121		
FASTKD3	79072	broad.mit.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:7867809C>T	ENST00000264669.5	-	2	524	c.388G>A	c.(388-390)Gca>Aca	p.A130T	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A130T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTCCTGCTGCCATAGTGTCA	0.418																																						uc003jeb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(388-390)GCA>ACA		FAST kinase domains 3							51.0	49.0	50.0					5																	7867809		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867809C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.388G>A	5.37:g.7867809C>T	ENSP00000264669:p.Ala130Thr					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.A130T	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	525	-			130					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.388G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138330	0.77775	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.26067	1.76;1.76;1.76	4.43	3.57	0.40892	.	0.369401	0.29438	N	0.012144	T	0.36663	0.0975	M	0.68593	2.085	0.58432	D	0.999999	D	0.61080	0.989	P	0.53146	0.719	T	0.13202	-1.0518	10	0.23302	T	0.38	-6.3781	12.4391	0.55615	0.0:0.9187:0.0:0.0813	.	130	Q14CZ7	FAKD3_HUMAN	T	130;130;113	ENSP00000264669:A130T;ENSP00000426008:A130T;ENSP00000422443:A113T	ENSP00000264669:A130T	A	-	1	0	FASTKD3	7920809	1.000000	0.71417	0.279000	0.24732	0.716000	0.41182	4.732000	0.62029	1.095000	0.41419	0.655000	0.94253	GCA		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		14	61	0	0	0	0.020292	0	14	61		
ELOVL7	79993	broad.mit.edu	37	5	60083198	60083198	+	Silent	SNP	C	C	T	rs547294540		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:60083198C>T	ENST00000508821.1	-	3	341	c.27G>A	c.(25-27)agG>agA	p.R9R	ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000425382.1_Silent_p.R9R|ELOVL7_ENST00000438340.1_Silent_p.R9R	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	9					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R9R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GATGCACAGTCCTCGATGTAA	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19717	0.0		0.0	False		,,,				2504	0.0					uc003jsi.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(25-27)AGG>AGA		elongation of very long chain fatty acids-like							126.0	121.0	122.0					5																	60083198		2203	4300	6503	SO:0001819	synonymous_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60083198C>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.27G>A	5.37:g.60083198C>T						ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.R9R|ELOVL7_uc003jsj.3_5'UTR	p.R9R	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			3	227	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	9					Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	c.27G>A	CCDS34164.1																																																																																				0.338	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1				11	59	0	0	0	0.105934	0	11	59		
GPR98	84059	broad.mit.edu	37	5	89985850	89985850	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:89985850A>T	ENST00000405460.2	+	30	6759	c.6663A>T	c.(6661-6663)gcA>gcT	p.A2221A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2221					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.A2221A(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)		TAACAGAGGCAGTCATTATTA	0.378																																						uc003kju.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6661-6663)GCA>GCT		G protein-coupled receptor 98 precursor							40.0	39.0	39.0					5																	89985850		1831	4079	5910	SO:0001819	synonymous_variant	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.chr5:89985850A>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.6663A>T	5.37:g.89985850A>T						GPR98_uc003kjt.2_5'UTR	p.A2221A	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)	30	6759	+		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)	2221			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6663A>T	CCDS47246.1																																																																																				0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		4	12	0	0	0	0.021553	0	4	12		
TRIM36	55521	broad.mit.edu	37	5	114469698	114469698	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:114469698C>G	ENST00000282369.3	-	8	1514	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	TRIM36_ENST00000514154.1_Missense_Mutation_p.E310Q|TRIM36_ENST00000513154.1_Missense_Mutation_p.E453Q	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	465	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E465Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACTTCTATCTCATTCCATGAC	0.363																																						uc003kqs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(2)|breast(2)	8						c.(1393-1395)GAG>CAG		tripartite motif-containing 36 isoform 1							139.0	128.0	132.0					5																	114469698		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114469698C>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1393G>C	5.37:g.114469698C>G	ENSP00000282369:p.Glu465Gln					TRIM36_uc011cwc.1_Missense_Mutation_p.E453Q|TRIM36_uc003kqt.2_Missense_Mutation_p.E310Q	p.E465Q	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	8	1902	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	465			Fibronectin type-III.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1393G>C	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289593	0.23478	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.59772	0.24;0.24;0.24	5.63	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.204142	0.51477	D	0.000087	T	0.54679	0.1873	L	0.57536	1.79	0.80722	D	1	P;P	0.44521	0.837;0.627	B;B	0.43225	0.412;0.296	T	0.53049	-0.8493	10	0.30854	T	0.27	.	11.5923	0.50953	0.0:0.8059:0.1254:0.0687	.	453;465	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	465;453;310	ENSP00000282369:E465Q;ENSP00000423934:E453Q;ENSP00000424259:E310Q	ENSP00000282369:E465Q	E	-	1	0	TRIM36	114497597	0.957000	0.32711	0.995000	0.50966	0.731000	0.41821	1.422000	0.34826	1.341000	0.45600	0.655000	0.94253	GAG		0.363	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2		NM_018700		14	62	0	0	0	0.020292	0	14	62		
PCDHA1	56147	broad.mit.edu	37	5	140167231	140167231	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:140167231G>A	ENST00000504120.2	+	1	1356	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	PCDHA1_ENST00000394633.3_Silent_p.A452A|PCDHA1_ENST00000378133.3_Silent_p.A452A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A452A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCTGCGTTCG	0.682																																						uc003lhb.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(1354-1356)GCG>GCA		protocadherin alpha 1 isoform 1 precursor							73.0	76.0	75.0					5																	140167231		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167231G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1356G>A	5.37:g.140167231G>A						PCDHA1_uc003lha.2_Silent_p.A452A|PCDHA1_uc003lgz.2_Silent_p.A452A	p.A452A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1356	+			452			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1356G>A	CCDS54913.1																																																																																				0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		40	147	0	0	0	0.104719	0	40	147		
HLA-A	3105	broad.mit.edu	37	6	29911314	29911314	+	Missense_Mutation	SNP	C	C	T	rs199474581		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:29911314C>T	ENST00000396634.1	+	5	954	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	HLA-A_ENST00000376809.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376802.2_Missense_Mutation_p.R205C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	205	Alpha-2.		R -> H (in dbSNP:rs17185861).		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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.R205C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACGCTGCAGCGCACGGGTAC	0.652									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(613-615)CGC>TGC		major histocompatibility complex, class I, A							46.0	41.0	43.0					6																	29911314		1507	2706	4213	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911314C>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.613C>T	6.37:g.29911314C>T	ENSP00000379873:p.Arg205Cys	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.R84C|HLA-A_uc003nok.2_Missense_Mutation_p.R84C|HLA-A_uc003non.2_Missense_Mutation_p.R205C|HLA-A_uc003noo.2_Missense_Mutation_p.R205C|HLA-A_uc010jrr.2_Missense_Mutation_p.R205C|HLA-A_uc003nom.2_Missense_Mutation_p.R84C|HLA-A_uc010klp.2_Missense_Mutation_p.R177C|HLA-A_uc011dmc.1_Missense_Mutation_p.R84C|HLA-A_uc011dmd.1_Missense_Mutation_p.R84C	p.R205C	NM_002116	NP_002107	P30443	1A01_HUMAN			3	613	+			205			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.613C>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	12.46	1.945125	0.34283	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00241	8.46;8.46;8.46;8.46	3.78	1.79	0.24919	MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.735248	0.10331	U	0.687630	T	0.00356	0.0011	M	0.92507	3.315	0.37457	D	0.915048	D;D;D;D;D;D;D	0.89917	0.995;0.976;1.0;0.987;1.0;0.976;1.0	P;P;D;P;D;P;D	0.83275	0.907;0.458;0.992;0.602;0.992;0.458;0.996	T	0.61352	-0.7080	10	0.87932	D	0	.	6.0222	0.19634	0.1877:0.7008:0.0:0.1115	.	84;205;205;205;205;205;205	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	205	ENSP00000379873:R205C;ENSP00000366002:R205C;ENSP00000366005:R205C;ENSP00000365998:R205C	ENSP00000365998:R205C	R	+	1	0	HLA-A	30019293	0.637000	0.27216	0.988000	0.46212	0.389000	0.30415	0.598000	0.24074	0.928000	0.37168	0.485000	0.47835	CGC		0.652	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		8	80	0	0	0	0.047766	0	8	80		
FKBP5	2289	broad.mit.edu	37	6	35554818	35554818	+	Missense_Mutation	SNP	T	T	C	rs61753297		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:35554818T>C	ENST00000539068.1	-	8	1035	c.833A>G	c.(832-834)tAc>tGc	p.Y278C	FKBP5_ENST00000357266.4_Missense_Mutation_p.Y278C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y99C|FKBP5_ENST00000542713.1_Missense_Mutation_p.T248A|FKBP5_ENST00000536438.1_Missense_Mutation_p.Y278C	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	278					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Y278C(1)|p.T248A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CACCTTGAAGTATACGGTTCC	0.408																																						uc011dte.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(832-834)TAC>TGC		FK506 binding protein 5 isoform 1							264.0	208.0	227.0					6																	35554818		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35554818T>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.833A>G	6.37:g.35554818T>C	ENSP00000441205:p.Tyr278Cys					FKBP5_uc003okx.2_Missense_Mutation_p.Y278C|FKBP5_uc011dtf.1_Missense_Mutation_p.Y99C|FKBP5_uc003oky.2_Missense_Mutation_p.Y278C|FKBP5_uc003okz.2_Missense_Mutation_p.T248A	p.Y278C	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			8	1036	-			278			TPR 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.833A>G	CCDS4808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.586954|4.586954	0.86851|0.86851	.|.	.|.	ENSG00000096060|ENSG00000096060	ENST00000542713;ENST00000373875|ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	T|T;T;T;T	0.80738|0.77229	-1.41|-1.08;-1.08;-1.08;-1.08	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Elongated TPR repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87779|0.87779	0.6263|0.6263	M|M	0.87456|0.87456	2.885|2.885	0.35216|0.35216	D|D	0.77555|0.77555	P|D	0.41498|0.89917	0.752|1.0	B|D	0.40375|0.91635	0.327|0.999	D|D	0.90697|0.90697	0.4617|0.4617	9|10	0.02654|0.87932	T|D	1|0	-13.816|-13.816	16.0399|16.0399	0.80667|0.80667	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	248|278	F5H7R1|Q13451	.|FKBP5_HUMAN	A|C	248;246|278;278;278;278;99;241	ENSP00000442340:T248A|ENSP00000444810:Y278C;ENSP00000349811:Y278C;ENSP00000441205:Y278C;ENSP00000445412:Y99C	ENSP00000362982:T246A|ENSP00000338160:Y278C	T|Y	-|-	1|2	0|0	FKBP5|FKBP5	35662796|35662796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.350000|7.350000	0.79385|0.79385	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.408	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2				95	91	0	0	0	0.048971	0	95	91		
POPDC3	64208	broad.mit.edu	37	6	105609536	105609536	+	Silent	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:105609536T>C	ENST00000254765.3	-	2	527	c.249A>G	c.(247-249)gtA>gtG	p.V83V	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	83					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.V83V(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGACAAACAGTACAAAATTCC	0.433																																						uc003prb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(247-249)GTA>GTG		popeye protein 3							146.0	159.0	154.0					6																	105609536		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105609536T>C	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.249A>G	6.37:g.105609536T>C						uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.V83V	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	651	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	83			Helical; (Potential).		B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.249A>G	CCDS5052.1																																																																																				0.433	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1		NM_022361		90	100	0	0	0	0.048971	0	90	100		
T	6862	broad.mit.edu	37	6	166571980	166571980	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:166571980C>A	ENST00000296946.2	-	9	1599	c.1131G>T	c.(1129-1131)cgG>cgT	p.R377R	T_ENST00000366871.3_Silent_p.R319R	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	377					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R377R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGGGGGAGCCCCGGAAGAACT	0.706									Chordoma, Familial Clustering of																													uc003quu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1129-1131)CGG>CGT		transcription factor T							25.0	32.0	29.0					6																	166571980		2202	4298	6500	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571980C>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1131G>T	6.37:g.166571980C>A						T_uc003qut.1_Silent_p.R378R|T_uc003quv.1_Silent_p.R319R	p.R377R	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1624	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	377					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.1131G>T	CCDS5290.1																																																																																				0.706	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2		NM_003181		16	51	1	0	3.32936e-07	0.038395	3.48981e-07	16	51		
FERD3L	222894	broad.mit.edu	37	7	19184975	19184975	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:19184975T>C	ENST00000275461.3	-	1	69	c.11A>G	c.(10-12)tAt>tGt	p.Y4C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	4					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y4C(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCTCTCCGGATAGGCCGCCAT	0.642																																						uc003suo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(10-12)TAT>TGT		nephew of atonal 3							26.0	26.0	26.0					7																	19184975		2203	4298	6501	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184975T>C	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.11A>G	7.37:g.19184975T>C	ENSP00000275461:p.Tyr4Cys					uc003sun.1_RNA	p.Y4C	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	70	-			4					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.11A>G	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705725	0.30232	.	.	ENSG00000146618	ENST00000275461	D	0.96365	-3.99	5.02	-0.511	0.11970	.	0.999656	0.08092	N	0.999233	D	0.88407	0.6428	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.77227	-0.2665	10	0.27785	T	0.31	-1.0258	0.4889	0.00560	0.3009:0.137:0.1546:0.4075	.	4	Q96RJ6	FER3L_HUMAN	C	4	ENSP00000275461:Y4C	ENSP00000275461:Y4C	Y	-	2	0	FERD3L	19151500	0.519000	0.26242	0.306000	0.25113	0.876000	0.50452	0.144000	0.16135	0.031000	0.15407	0.528000	0.53228	TAT		0.642	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1				11	60	0	0	0	0.09319	0	11	60		
PDE1C	5137	broad.mit.edu	37	7	31862705	31862705	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:31862705T>C	ENST00000396191.1	-	14	2019	c.1564A>G	c.(1564-1566)Agg>Ggg	p.R522G	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396184.3_Missense_Mutation_p.R522G|PDE1C_ENST00000396182.2_Missense_Mutation_p.R522G|PDE1C_ENST00000321453.7_Missense_Mutation_p.R522G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R582G	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	522					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R522G(2)|p.R582G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACCTTGGCCCTCCATCTCTCC	0.458																																						uc003tcm.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	skin(3)|central_nervous_system(1)	4						c.(1564-1566)AGG>GGG		phosphodiesterase 1C							202.0	177.0	186.0					7																	31862705		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862705T>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1564A>G	7.37:g.31862705T>C	ENSP00000379494:p.Arg522Gly					PDE1C_uc003tcn.1_Missense_Mutation_p.R522G|PDE1C_uc003tco.1_Missense_Mutation_p.R582G|PDE1C_uc003tcr.2_Missense_Mutation_p.R522G|PDE1C_uc003tcs.2_Missense_Mutation_p.R522G	p.R522G	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2033	-			522					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1564A>G	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196786	0.58126	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73363	-0.74;-0.72;-0.72;-0.68;-0.68	5.79	3.32	0.38043	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.412720	0.27891	N	0.017428	T	0.64148	0.2572	N	0.19112	0.55	0.39400	D	0.966568	P;B;P	0.44521	0.837;0.354;0.704	P;B;B	0.44673	0.457;0.194;0.139	T	0.66400	-0.5933	10	0.66056	D	0.02	.	12.285	0.54788	0.0:0.0:0.2778:0.7222	.	522;582;522	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	G	582;522;522;522;522	ENSP00000379496:R582G;ENSP00000379494:R522G;ENSP00000318105:R522G;ENSP00000379487:R522G;ENSP00000379485:R522G	ENSP00000318105:R522G	R	-	1	2	PDE1C	31829230	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.728000	0.54991	0.412000	0.25729	0.460000	0.39030	AGG		0.458	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1				35	170	0	0	0	0.074837	0	35	170		
SFRP4	6424	broad.mit.edu	37	7	37955842	37955842	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:37955842C>A	ENST00000436072.2	-	1	675	c.298G>T	c.(298-300)Gtg>Ttg	p.V100L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	100	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V100L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGTTGGCACACCGACTTGCAC	0.627																																						uc003tfo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(298-300)GTG>TTG		secreted frizzled-related  protein 4 precursor							64.0	54.0	58.0					7																	37955842		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955842C>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.298G>T	7.37:g.37955842C>A	ENSP00000410715:p.Val100Leu						p.V100L	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	684	-			100			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.298G>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075312	0.36662	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.77750	-1.12	4.28	3.35	0.38373	Frizzled domain (5);	0.068149	0.64402	D	0.000017	T	0.54013	0.1832	N	0.03999	-0.3	0.41078	D	0.985504	B	0.12013	0.005	B	0.16289	0.015	T	0.51100	-0.8748	10	0.16896	T	0.51	.	12.3243	0.55001	0.0:0.7666:0.2334:0.0	.	100	Q6FHJ7	SFRP4_HUMAN	L	100;97	ENSP00000410715:V100L	ENSP00000410715:V100L	V	-	1	0	SFRP4	37922367	0.784000	0.28713	1.000000	0.80357	0.947000	0.59692	1.553000	0.36255	2.205000	0.71048	0.650000	0.86243	GTG		0.627	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014		17	60	1	0	5.03518e-11	0.043863	5.54508e-11	17	60		
YAE1D1	57002	broad.mit.edu	37	7	39612174	39612174	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:39612174G>C	ENST00000223273.2	+	3	593	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	184								p.E184Q(1)									TTCATATGTAGAATGTTGTAG	0.393																																						uc003thc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(550-552)GAA>CAA		hypothetical protein LOC57002							101.0	101.0	101.0					7																	39612174		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612174G>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.550G>C	7.37:g.39612174G>C	ENSP00000223273:p.Glu184Gln						p.E184Q	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			3	559	+			184					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.550G>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192954	0.21954	.	.	ENSG00000241127	ENST00000223273	T	0.47528	0.84	5.93	1.15	0.20763	.	1.026010	0.07653	N	0.932218	T	0.34513	0.0900	L	0.51422	1.61	0.09310	N	1	P	0.39216	0.664	B	0.31191	0.125	T	0.18587	-1.0332	10	0.23302	T	0.38	-0.967	6.4379	0.21833	0.2773:0.1282:0.5945:0.0	.	184	Q9NRH1	CG036_HUMAN	Q	184	ENSP00000223273:E184Q	ENSP00000223273:E184Q	E	+	1	0	C7orf36	39578699	0.021000	0.18746	0.008000	0.14137	0.646000	0.38490	0.679000	0.25291	0.768000	0.33290	0.655000	0.94253	GAA		0.393	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1		NM_020192		20	92	0	0	0	0.049695	0	20	92		
GRM8	2918	broad.mit.edu	37	7	126544099	126544099	+	Silent	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:126544099T>A	ENST00000339582.2	-	5	1753	c.945A>T	c.(943-945)atA>atT	p.I315I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I315I|GRM8_ENST00000358373.3_Silent_p.I315I|GRM8_ENST00000405249.1_Silent_p.I315I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	315					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I315I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGACAGGTGCTATTTTGGATC	0.403										HNSCC(24;0.065)																												uc003vlr.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(943-945)ATA>ATT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						87.0	87.0	87.0					7																	126544099		2203	4298	6501	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544099T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.945A>T	7.37:g.126544099T>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.I315I|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Silent_p.I36I	p.I315I	NM_000845	NP_000836	O00222	GRM8_HUMAN			4	1256	-		Prostate(267;0.186)	315			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.945A>T	CCDS5794.1																																																																																				0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4				35	121	0	0	0	0.059317	0	35	121		
LRGUK	136332	broad.mit.edu	37	7	133812300	133812300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:133812300C>A	ENST00000285928.2	+	1	249	c.180C>A	c.(178-180)taC>taA	p.Y60*	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	60						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.Y60*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCTCCTCCTACCTGCTCCAGC	0.597																																						uc003vrm.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|skin(2)|kidney(1)	5						c.(178-180)TAC>TAA		leucine-rich repeats and guanylate kinase domain							88.0	85.0	86.0					7																	133812300		2203	4300	6503	SO:0001587	stop_gained	136332						ATP binding|kinase activity	g.chr7:133812300C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.180C>A	7.37:g.133812300C>A	ENSP00000285928:p.Tyr60*						p.Y60*	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	196	+			60					Q2M3I1	Nonsense_Mutation	SNP	ENST00000285928.2	37	c.180C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308393	0.81247	.	.	ENSG00000155530	ENST00000285928	.	.	.	3.74	3.74	0.42951	.	0.534248	0.15849	N	0.241632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1419	11.3336	0.49490	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000285928:Y60X	Y	+	3	2	LRGUK	133462840	0.952000	0.32445	0.998000	0.56505	0.256000	0.26092	1.702000	0.37836	2.379000	0.81126	0.655000	0.94253	TAC		0.597	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1		NM_144648		26	154	1	0	1.17739e-12	0.108266	1.32172e-12	26	154		
ARHGEF5	7984	broad.mit.edu	37	7	144062382	144062382	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:144062382G>A	ENST00000056217.5	+	2	2794	c.2620G>A	c.(2620-2622)Ggt>Agt	p.G874S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	874					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G874S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAACTCAGGGGGTCATGCCAA	0.612																																						uc003wel.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(2620-2622)GGT>AGT		rho guanine nucleotide exchange factor 5							53.0	62.0	59.0					7																	144062382		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062382G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2620G>A	7.37:g.144062382G>A	ENSP00000056217:p.Gly874Ser					ARHGEF5_uc003wek.2_Missense_Mutation_p.G874S|ARHGEF5_uc003wem.2_5'Flank	p.G874S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	2738	+	Melanoma(164;0.14)		874					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2620G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	2.586	-0.296311	0.05532	.	.	ENSG00000050327	ENST00000056217	T	0.73469	-0.75	3.99	2.18	0.27775	.	0.984709	0.08224	N	0.978594	T	0.60248	0.2254	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.48758	-0.9007	10	0.45353	T	0.12	0.5026	6.03	0.19675	0.2377:0.0:0.7623:0.0	.	874	Q12774	ARHG5_HUMAN	S	874	ENSP00000056217:G874S	ENSP00000056217:G874S	G	+	1	0	ARHGEF5	143693315	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.086000	0.14935	0.371000	0.24564	-0.266000	0.10368	GGT		0.612	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1		NM_005435		74	140	0	0	0	0.048971	0	74	140		
ANGPT2	285	broad.mit.edu	37	8	6357451	6357451	+	3'UTR	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:6357451G>A	ENST00000325203.5	-	0	5136				MCPH1_ENST00000344683.5_Splice_Site|ANGPT2_ENST00000415216.1_3'UTR			O15123	ANGP2_HUMAN	angiopoietin 2						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCAGCTCCCGTAAGTCAGAT	0.428																																						uc003wqi.2		NaN																	1	Unknown(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.e12+1		microcephalin							143.0	143.0	143.0					8																	6357451		1904	4117	6021	SO:0001624	3_prime_UTR_variant	79648					microtubule organizing center		g.chr8:6357451G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.*3171C>T	8.37:g.6357451G>A						ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR	p.P738_splice	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	12	2282	+		Hepatocellular(245;0.0663)						A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Splice_Site	SNP	ENST00000325203.5	37	c.2214_splice	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153011	0.78001	.	.	ENSG00000147316	ENST00000344683	.	.	.	5.78	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8035	0.57598	0.0791:0.0:0.9209:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCPH1	6344859	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	8.889000	0.92470	1.592000	0.50018	0.591000	0.81541	.		0.428	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1		NM_001147		15	50	0	0	0	0.020292	0	15	50		
KCNU1	157855	broad.mit.edu	37	8	36793051	36793051	+	Silent	SNP	A	A	T	rs369923814		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:36793051A>T	ENST00000399881.3	+	27	3100	c.3063A>T	c.(3061-3063)ccA>ccT	p.P1021P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1021					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.P1021P(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)		TCACCCGGCCAGCCAATGAGT	0.458																																						uc010lvw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(3061-3063)CCA>CCT		potassium channel, subfamily U, member 1							114.0	111.0	112.0					8																	36793051		1937	4159	6096	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793051A>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.3063A>T	8.37:g.36793051A>T							p.P1021P	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3150	+			1021			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.3063A>T	CCDS55220.1																																																																																				0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		71	103	0	0	0	0.048971	0	71	103		
POP1	10940	broad.mit.edu	37	8	99168597	99168597	+	Missense_Mutation	SNP	G	G	A	rs376126108		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:99168597G>A	ENST00000401707.2	+	15	2458	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	POP1_ENST00000349693.3_Missense_Mutation_p.E793K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	793					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.E793K(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGGCCAGTGAAAACCATGT	0.512																																						uc003yij.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2377-2379)GAA>AAA		processing of precursor 1							115.0	115.0	115.0					8																	99168597		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168597G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2377G>A	8.37:g.99168597G>A	ENSP00000385787:p.Glu793Lys					POP1_uc011lgv.1_Missense_Mutation_p.E793K|POP1_uc003yik.2_Missense_Mutation_p.E793K	p.E793K	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2477	+	Breast(36;1.78e-06)		793					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2377G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296412	0.23650	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.38887	1.11;1.11	3.58	3.58	0.41010	.	0.509100	0.17358	N	0.177180	T	0.22781	0.0550	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.15484	0.013	T	0.19289	-1.0310	10	0.06494	T	0.89	-15.3559	8.5513	0.33453	0.109:0.0:0.891:0.0	.	793	Q99575	POP1_HUMAN	K	793	ENSP00000385787:E793K;ENSP00000339529:E793K	ENSP00000339529:E793K	E	+	1	0	POP1	99237773	0.563000	0.26594	0.039000	0.18376	0.236000	0.25371	2.009000	0.40903	1.811000	0.52892	0.591000	0.81541	GAA		0.512	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1		NM_015029		35	216	0	0	0	0.069456	0	35	216		
ALDOB	229	broad.mit.edu	37	9	104192127	104192127	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr9:104192127G>A	ENST00000374855.4	-	3	358	c.234C>T	c.(232-234)atC>atT	p.I78I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	78					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.I78I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CGTGGAAAAGGATCACACCCC	0.517																																						uc004bbk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(232-234)ATC>ATT		aldolase B, fructose-bisphosphate							194.0	177.0	183.0					9																	104192127		2203	4300	6503	SO:0001819	synonymous_variant	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192127G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.234C>T	9.37:g.104192127G>A							p.I78I	NM_000035	NP_000026	P05062	ALDOB_HUMAN			3	316	-		Acute lymphoblastic leukemia(62;0.0559)	78					Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	c.234C>T	CCDS6756.1																																																																																				0.517	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2				151	95	0	0	0	0.048971	0	151	95		
SLC7A3	84889	broad.mit.edu	37	X	70149567	70149567	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:70149567G>C	ENST00000374299.3	-	2	425	c.281C>G	c.(280-282)tCt>tGt	p.S94C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	94					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.S94C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCGAACCAGAACGGGGAAC	0.542																																						uc004dyn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(280-282)TCT>TGT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						89.0	66.0	74.0					X																	70149567		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70149567G>C	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.281C>G	X.37:g.70149567G>C	ENSP00000363417:p.Ser94Cys					SLC7A3_uc004dyo.2_Missense_Mutation_p.S94C	p.S94C	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			2	439	-	Renal(35;0.156)		94			Cytoplasmic (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.281C>G	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711974	0.68730	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.91792	-2.91;-2.91	4.7	4.7	0.59300	Amino acid permease domain (1);	0.098330	0.64402	D	0.000001	D	0.93582	0.7951	M	0.83384	2.64	0.44880	D	0.997894	B	0.24721	0.11	B	0.36418	0.224	D	0.93217	0.6605	10	0.66056	D	0.02	.	15.7505	0.77983	0.0:0.0:1.0:0.0	.	94	Q8WY07	CTR3_HUMAN	C	94	ENSP00000363417:S94C;ENSP00000298085:S94C	ENSP00000298085:S94C	S	-	2	0	SLC7A3	70066292	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	9.475000	0.97721	2.168000	0.68352	0.529000	0.55759	TCT		0.542	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1		NM_032803		10	16	0	0	0	0.080935	0	10	16		
PHKA1	5255	broad.mit.edu	37	X	71839145	71839145	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:71839145C>T	ENST00000373542.4	-	20	2307	c.2148G>A	c.(2146-2148)atG>atA	p.M716I	PHKA1_ENST00000373545.3_Missense_Mutation_p.M657I|PHKA1_ENST00000339490.3_Missense_Mutation_p.M716I|PHKA1_ENST00000541944.1_Missense_Mutation_p.M657I|PHKA1_ENST00000373539.3_Missense_Mutation_p.M716I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	716					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)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.M716I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TAGGAAGATACATGTGAACAT	0.388																																						uc004eax.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(2146-2148)ATG>ATA		phosphorylase kinase, alpha 1 (muscle) isoform							64.0	54.0	57.0					X																	71839145		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71839145C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2148G>A	X.37:g.71839145C>T	ENSP00000362643:p.Met716Ile					PHKA1_uc004eay.3_Missense_Mutation_p.M716I|PHKA1_uc011mqi.1_Missense_Mutation_p.M657I	p.M716I	NM_002637	NP_002628	P46020	KPB1_HUMAN			20	2449	-	Renal(35;0.156)		716					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2148G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137415	0.21123	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91011	-2.76;-2.74;-2.77;-2.71;-2.71	5.17	4.3	0.51218	Glycoside hydrolase 15-related (1);	0.039575	0.85682	D	0.000000	D	0.93259	0.7852	M	0.73753	2.245	0.23238	N	0.998064	D;B;B	0.60575	0.988;0.03;0.08	D;B;B	0.75020	0.985;0.02;0.081	D	0.85312	0.1079	10	0.21540	T	0.41	-25.965	9.1374	0.36883	0.0:0.8926:0.0:0.1074	.	657;716;716	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	I	657;716;657;716;716	ENSP00000362646:M657I;ENSP00000362643:M716I;ENSP00000441251:M657I;ENSP00000342469:M716I;ENSP00000362640:M716I	ENSP00000342469:M716I	M	-	3	0	PHKA1	71755870	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.237000	0.51344	2.140000	0.66376	0.513000	0.50165	ATG		0.388	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1				10	4	0	0	0	0.069234	0	10	4		
MAGEE2	139599	broad.mit.edu	37	X	75003748	75003748	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:75003748A>G	ENST00000373359.2	-	1	1331	c.1139T>C	c.(1138-1140)cTt>cCt	p.L380P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	380	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L380P(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						TTGCTGGACAAGGAGGTAGAT	0.443																																						uc004ecj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1138-1140)CTT>CCT		melanoma antigen family E, 2							115.0	93.0	100.0					X																	75003748		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003748A>G	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.1139T>C	X.37:g.75003748A>G	ENSP00000362457:p.Leu380Pro						p.L380P	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1324	-			380			MAGE 2.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1139T>C	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376637	0.42105	.	.	ENSG00000186675	ENST00000373359	T	0.16743	2.32	2.97	2.97	0.34412	.	.	.	.	.	T	0.42944	0.1225	M	0.90977	3.165	0.53688	D	0.999975	D	0.65815	0.995	D	0.65874	0.939	T	0.44862	-0.9300	9	0.87932	D	0	.	6.8014	0.23754	1.0:0.0:0.0:0.0	.	380	Q8TD90	MAGE2_HUMAN	P	380	ENSP00000362457:L380P	ENSP00000362457:L380P	L	-	2	0	MAGEE2	74920473	1.000000	0.71417	0.715000	0.30552	0.984000	0.73092	2.473000	0.45145	1.408000	0.46895	0.345000	0.21793	CTT		0.443	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1		NM_138703		38	82	0	0	0	0.074837	0	38	82		
PAK3	5063	broad.mit.edu	37	X	110463610	110463610	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:110463610C>A	ENST00000372010.1	+	19	2057	c.1615C>A	c.(1615-1617)Cct>Act	p.P539T	PAK3_ENST00000372007.5_Missense_Mutation_p.P524T|PAK3_ENST00000425146.1_Missense_Mutation_p.P524T|PAK3_ENST00000519681.1_Missense_Mutation_p.P545T|PAK3_ENST00000417227.1_Missense_Mutation_p.P545T|PAK3_ENST00000262836.4_Missense_Mutation_p.P539T|PAK3_ENST00000360648.4_Missense_Mutation_p.P560T|PAK3_ENST00000446737.1_Missense_Mutation_p.P524T|PAK3_ENST00000518291.1_Missense_Mutation_p.P560T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	539					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P560T(1)|p.P524T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTAGCCAAGCCTCTCTCCAG	0.418										TSP Lung(19;0.15)																												uc004epa.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(1615-1617)CCT>ACT		p21-activated kinase 3 isoform d							48.0	40.0	43.0					X																	110463610		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110463610C>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1615C>A	X.37:g.110463610C>A	ENSP00000361080:p.Pro539Thr	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.P524T|PAK3_uc010npu.1_Missense_Mutation_p.P524T|PAK3_uc004eoz.2_Missense_Mutation_p.P524T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P560T|PAK3_uc010npw.1_Missense_Mutation_p.P545T	p.P539T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			15	1642	+			539					A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1615C>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246833	0.80024	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72615	-0.65;-0.65;-0.65;-0.67;-0.65;-0.65;-0.65;-0.67;-0.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78641	0.4315	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.89917	1.0;0.972;0.999;0.996	D;P;D;D	0.81914	0.995;0.81;0.978;0.97	T	0.79581	-0.1744	10	0.62326	D	0.03	.	19.7362	0.96205	0.0:1.0:0.0:0.0	.	545;560;539;524	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	T	524;524;539;545;524;560;560;545;539	ENSP00000410853:P524T;ENSP00000401982:P524T;ENSP00000361080:P539T;ENSP00000429113:P545T;ENSP00000361077:P524T;ENSP00000428921:P560T;ENSP00000353864:P560T;ENSP00000389172:P545T;ENSP00000262836:P539T	ENSP00000262836:P539T	P	+	1	0	PAK3	110350266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.422000	0.80217	2.618000	0.88619	0.600000	0.82982	CCT		0.418	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578		9	16	1	0	0.000274275	0.047766	0.00028239	9	16		
STAG2	10735	broad.mit.edu	37	X	123200039	123200039	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:123200039C>T	ENST00000371160.1	+	22	2401	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	STAG2_ENST00000371157.3_Missense_Mutation_p.S704L|STAG2_ENST00000371144.3_Missense_Mutation_p.S704L|STAG2_ENST00000354548.5_Missense_Mutation_p.S635L|STAG2_ENST00000218089.9_Missense_Mutation_p.S704L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.S704L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	704					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.S704L(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						CATGACCTTTCAAAGTGGGAT	0.289																																						uc004etz.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(1)	5						c.(2110-2112)TCA>TTA		stromal antigen 2 isoform b							62.0	63.0	63.0					X																	123200039		2202	4298	6500	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:123200039C>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.2111C>T	X.37:g.123200039C>T	ENSP00000360202:p.Ser704Leu					STAG2_uc004eua.2_Missense_Mutation_p.S704L|STAG2_uc004eub.2_Missense_Mutation_p.S704L|STAG2_uc004euc.2_Missense_Mutation_p.S704L|STAG2_uc004eud.2_Missense_Mutation_p.S704L|STAG2_uc004eue.2_Missense_Mutation_p.S704L	p.S704L	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			21	2450	+			704					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2111C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033969	0.75504	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.34859	1.74;1.35;1.34;1.34;1.74;1.34	5.76	5.76	0.90799	Armadillo-type fold (1);	0.067608	0.64402	D	0.000007	T	0.47173	0.1431	M	0.65498	2.005	0.80722	D	1	P;B	0.37083	0.581;0.446	B;B	0.42245	0.381;0.103	T	0.44421	-0.9329	10	0.51188	T	0.08	-0.3939	18.992	0.92796	0.0:1.0:0.0:0.0	.	704;704	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	704;635;704;704;704;704	ENSP00000218089:S704L;ENSP00000346555:S635L;ENSP00000360202:S704L;ENSP00000360199:S704L;ENSP00000360187:S704L;ENSP00000360186:S704L	ENSP00000218089:S704L	S	+	2	0	STAG2	123027720	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.089000	0.71384	2.433000	0.82419	0.600000	0.82982	TCA		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		19	51	0	0	0	0.049695	0	19	51		
F8	2157	broad.mit.edu	37	X	154124398	154124398	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:154124398C>G	ENST00000360256.4	-	22	6583	c.6383G>C	c.(6382-6384)gGg>gCg	p.G2128A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2128	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.G2128A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCACTTCTTCCCATCAAGACT	0.413																																						uc004fmt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6382-6384)GGG>GCG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						160.0	153.0	155.0					X																	154124398		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154124398C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6383G>C	X.37:g.154124398C>G	ENSP00000353393:p.Gly2128Ala					F8_uc010nvi.1_3'UTR	p.G2128A	NM_000132	NP_000123	P00451	FA8_HUMAN			22	6554	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2128			F5/8 type C 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6383G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.952237	0.73787	.	.	ENSG00000185010	ENST00000360256	D	0.99382	-5.8	5.65	5.65	0.86999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.159187	0.56097	D	0.000023	D	0.99420	0.9795	M	0.82193	2.58	0.46317	D	0.998988	D	0.89917	1.0	D	0.87578	0.998	D	0.98971	1.0801	10	0.62326	D	0.03	-17.2822	17.1744	0.86837	0.0:1.0:0.0:0.0	.	2128	P00451	FA8_HUMAN	A	2128	ENSP00000353393:G2128A	ENSP00000353393:G2128A	G	-	2	0	F8	153777592	1.000000	0.71417	0.947000	0.38551	0.945000	0.59286	4.857000	0.62939	2.370000	0.80446	0.600000	0.82982	GGG		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4				62	92	0	0	0	0.048971	0	62	92		
EDC4	23644	broad.mit.edu	37	16	67911712	67911712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:67911712delC	ENST00000358933.5	+	7	1097	c.858delC	c.(856-858)atcfs	p.I286fs	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	286					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTAGCCAGATCAAGCAGGGCT	0.582																																						uc002eur.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(856-858)ATCfs		autoantigen RCD8							133.0	91.0	105.0					16																	67911712		2198	4300	6498	SO:0001589	frameshift_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67911712delC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.858delC	16.37:g.67911712delC	ENSP00000351811:p.Ile286fs					EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Frame_Shift_Del_p.I218fs|EDC4_uc010ces.1_Frame_Shift_Del_p.I129fs|EDC4_uc002eus.2_Frame_Shift_Del_p.I16fs	p.I286fs	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	7	1024	+		Ovarian(137;0.0563)	286					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Frame_Shift_Del	DEL	ENST00000358933.5	37	c.858delC	CCDS10849.1																																																																																				0.582	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		55	86	NaN	NaN	NaN	NaN	NaN	55	86	---	---
PHLPP1	23239	broad.mit.edu	37	18	60562283	60562283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:60562283delT	ENST00000262719.5	+	5	2340	c.2106delT	c.(2104-2106)catfs	p.H702fs	PHLPP1_ENST00000400316.4_Frame_Shift_Del_p.H190fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	702					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCAATAATCATTTAGGGGACT	0.438																																						uc002lis.2		NaN																	0					0						c.(568-570)CATfs		PH domain and leucine rich repeat protein							58.0	55.0	56.0					18																	60562283		1869	4102	5971	SO:0001589	frameshift_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60562283delT	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2106delT	18.37:g.60562283delT	ENSP00000262719:p.His702fs						p.H190fs	NM_194449	NP_919431	O60346	PHLP1_HUMAN			6	748	+			702			LRR 3.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Del	DEL	ENST00000262719.5	37	c.570delT	CCDS45881.2																																																																																				0.438	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2		NM_194449		18	28	NaN	NaN	NaN	NaN	NaN	18	28	---	---
