#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
CCNL2	81669	broad.mit.edu	37	1	1325721	1325721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:1325721C>A	ENST00000400809.3	-	8	900	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Nonsense_Mutation_p.E77*	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	299					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCTTTTTTCCACTTCACCC	0.552																																						uc001afi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(895-897)GAA>TAA		cyclin L2 isoform A							98.0	101.0	100.0					1																	1325721		2203	4296	6499	SO:0001587	stop_gained	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325721C>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.895G>T	1.37:g.1325721C>A	ENSP00000383611:p.Glu299*					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afg.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.E299*	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	927	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	299					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Nonsense_Mutation	SNP	ENST00000400809.3	37	c.895G>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124362	0.77436	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	.	.	.	5.66	5.66	0.87406	.	0.139505	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.722	0.91698	0.0:1.0:0.0:0.0	.	.	.	.	X	299;77	.	ENSP00000383611:E299X	E	-	1	0	CCNL2	1315584	1.000000	0.71417	0.904000	0.35570	0.035000	0.12851	6.892000	0.75644	2.682000	0.91365	0.650000	0.86243	GAA		0.552	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2		NM_030937		35	56	1	0	1.59361e-14	0.027894	1.70787e-14	35	56		
PGD	5226	broad.mit.edu	37	1	10471526	10471526	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:10471526G>C	ENST00000270776.8	+	7	609	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PGD_ENST00000538557.1_Missense_Mutation_p.E178Q|PGD_ENST00000541529.1_Missense_Mutation_p.E169Q	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	191					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CAACGGGATAGAGTATGGGGA	0.582																																						uc001arc.2		NaN																	0				ovary(1)	1						c.(571-573)GAG>CAG		phosphogluconate dehydrogenase							140.0	107.0	118.0					1																	10471526		2203	4300	6503	SO:0001583	missense	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10471526G>C	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.571G>C	1.37:g.10471526G>C	ENSP00000270776:p.Glu191Gln					PGD_uc001ard.2_Missense_Mutation_p.E111Q|PGD_uc010oak.1_Missense_Mutation_p.E169Q|PGD_uc010oal.1_Missense_Mutation_p.E178Q	p.E191Q	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	7	661	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	191				Proton donor (By similarity).	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.571G>C	CCDS113.1	.	.	.	.	.	.	.	.	.	.	g	32	5.170360	0.94768	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.68624	-0.34;-0.34;-0.34	4.85	4.85	0.62838	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	H	0.98646	4.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93743	0.7052	10	0.87932	D	0	-43.5885	18.3696	0.90402	0.0:0.0:1.0:0.0	.	169;191;191	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	Q	169;137;191;178	ENSP00000442285:E169Q;ENSP00000270776:E191Q;ENSP00000437822:E178Q	ENSP00000270776:E191Q	E	+	1	0	PGD	10394113	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	9.643000	0.98464	2.401000	0.81631	0.574000	0.79327	GAG		0.582	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1		NM_002631		13	45	0	0	0	0.024245	0	13	45		
EIF4G3	8672	broad.mit.edu	37	1	21177865	21177865	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:21177865G>C	ENST00000264211.8	-	22	3684	c.3490C>G	c.(3490-3492)Cag>Gag	p.Q1164E	EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q768E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q1164E|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q654E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q1170E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q884E|EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q1170E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1164					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTGAGACTGATTGTCTAGC	0.522																																						uc001bec.2		NaN																	0				skin(1)	1						c.(3490-3492)CAG>GAG		eukaryotic translation initiation factor 4							135.0	125.0	129.0					1																	21177865		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21177865G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3490C>G	1.37:g.21177865G>C	ENSP00000264211:p.Gln1164Glu					EIF4G3_uc010odi.1_Missense_Mutation_p.Q768E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q1163E|EIF4G3_uc009vpz.2_Missense_Mutation_p.Q884E|EIF4G3_uc001bed.2_Missense_Mutation_p.Q1164E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q1200E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q1170E	p.Q1164E	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	23	3746	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1164					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3490C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702639	0.30232	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.06294	3.86;3.86;3.69;3.32;3.86;3.56	5.73	5.73	0.89815	.	0.329246	0.34046	N	0.004316	T	0.04003	0.0112	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.32051	0.339;0.354;0.0;0.02;0.018	B;B;B;B;B	0.29353	0.055;0.101;0.002;0.015;0.021	T	0.43426	-0.9392	10	0.06757	T	0.87	-11.3274	19.8928	0.96935	0.0:0.0:1.0:0.0	.	1359;884;768;1170;1164	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	E	1164;1360;1164;884;654;1170;768	ENSP00000264211:Q1164E;ENSP00000383274:Q1164E;ENSP00000364071:Q884E;ENSP00000442010:Q654E;ENSP00000364073:Q1170E;ENSP00000444693:Q768E	ENSP00000264211:Q1164E	Q	-	1	0	EIF4G3	21050452	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.785000	0.75089	2.713000	0.92767	0.591000	0.81541	CAG		0.522	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		39	84	0	0	0	0.013114	0	39	84		
ASAP3	55616	broad.mit.edu	37	1	23768756	23768756	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:23768756G>C	ENST00000336689.3	-	7	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	ASAP3_ENST00000437606.2_Silent_p.L189L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	198					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L198L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCCCGGCTTTGAGCAGATACT	0.567																																						uc001bha.2		NaN																	1	Substitution - coding silent(1)		breast(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(592-594)CTC>CTG		ArfGAP with SH3 domain, ankyrin repeat and PH							91.0	75.0	80.0					1																	23768756		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23768756G>C	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.594C>G	1.37:g.23768756G>C						ASAP3_uc010odz.1_Silent_p.L67L|ASAP3_uc010oea.1_Silent_p.L189L	p.L198L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			7	718	-			198					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.594C>G	CCDS235.1																																																																																				0.567	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		5	14	0	0	0	0.021553	0	5	14		
ARID1A	8289	broad.mit.edu	37	1	27105793	27105793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27105793G>T	ENST00000324856.7	+	20	5775	c.5404G>T	c.(5404-5406)Gag>Tag	p.E1802*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1419*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E130*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1585*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1802					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAGAATAGTGAGGAGAAGCT	0.438			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5404-5406)GAG>TAG		AT rich interactive domain 1A isoform a							71.0	62.0	65.0					1																	27105793		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105793G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5404G>T	1.37:g.27105793G>T	ENSP00000320485:p.Glu1802*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1585*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E648*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E130*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E44*	p.E1802*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5777	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1802					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5404G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.311764|9.311764	0.99133|0.99133	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.215382|.	0.50627|.	D|.	0.000103|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09590|.	T|.	0.72|.	-15.5134|-15.5134	14.5705|14.5705	0.68208|0.68208	0.0:0.1459:0.854:0.0|0.0:0.1459:0.854:0.0	.|.	.|.	.|.	.|.	X|L	1802;1585;1419;130|698	.|.	ENSP00000320485:E1802X|.	E|X	+|+	1|2	0|2	ARID1A|ARID1A	26978380|26978380	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.711000|2.711000	0.47177|0.47177	2.791000|2.791000	0.96007|0.96007	0.591000|0.591000	0.81541|0.81541	GAG|TGA		0.438	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		15	24	1	0	2.23348e-06	0.028581	2.28993e-06	15	24		
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106492G>A	ENST00000324856.7	+	20	6474	c.6103G>A	c.(6103-6105)Gag>Aag	p.E2035K	ARID1A_ENST00000374152.2_Missense_Mutation_p.E1652K|ARID1A_ENST00000540690.1_Missense_Mutation_p.E363K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1818K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2035					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAAAGGAGGAGGAACAGGA	0.557			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6103-6105)GAG>AAG		AT rich interactive domain 1A isoform a							142.0	136.0	138.0					1																	27106492		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106492G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6103G>A	1.37:g.27106492G>A	ENSP00000320485:p.Glu2035Lys					ARID1A_uc001bmu.1_Missense_Mutation_p.E1818K|ARID1A_uc001bmx.1_Missense_Mutation_p.E881K|ARID1A_uc009vsm.1_Missense_Mutation_p.E363K|ARID1A_uc009vsn.1_Missense_Mutation_p.E277K	p.E2035K	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6476	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2035					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6103G>A	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188951|4.188951	0.78789|0.78789	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19|.	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72946|0.72946	0.3524|0.3524	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.76494|.	0.999;0.997;0.734|.	D;D;B|.	0.73708|.	0.981;0.967;0.203|.	T|T	0.74253|0.74253	-0.3725|-0.3725	10|5	0.54805|.	T|.	0.06|.	-8.4613|-8.4613	14.0131|14.0131	0.64509|0.64509	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	1652;2035;1818|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	K|E	2035;1818;1652;363|931	ENSP00000320485:E2035K;ENSP00000387636:E1818K;ENSP00000363267:E1652K;ENSP00000442437:E363K|.	ENSP00000320485:E2035K|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26979079|26979079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.020000|9.020000	0.93667|0.93667	1.472000|1.472000	0.48140|0.48140	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		49	69	0	0	0	0.01441	0	49	69		
ARID1A	8289	broad.mit.edu	37	1	27106953	27106953	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106953G>T	ENST00000324856.7	+	20	6935	c.6564G>T	c.(6562-6564)caG>caT	p.Q2188H	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1805H|ARID1A_ENST00000540690.1_Missense_Mutation_p.Q516H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1971H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2188					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGCAGTGCAGAAGGGCAGTA	0.627			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Deletion - Frameshift(1)		liver(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6562-6564)CAG>CAT		AT rich interactive domain 1A isoform a							78.0	73.0	75.0					1																	27106953		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106953G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6564G>T	1.37:g.27106953G>T	ENSP00000320485:p.Gln2188His					ARID1A_uc001bmu.1_Missense_Mutation_p.Q1971H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q1034H|ARID1A_uc009vsm.1_Missense_Mutation_p.Q516H|ARID1A_uc009vsn.1_Missense_Mutation_p.Q430H	p.Q2188H	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6937	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2188					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6564G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533634|2.533634	0.45073|0.45073	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.35605	.|1.3;1.3;1.3;1.3	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Armadillo-like helical (1);	.|0.113150	.|0.64402	.|D	.|0.000008	.|T	.|0.61527	.|0.2354	M|M	0.71296|0.71296	2.17|2.17	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.87578	.|0.997;0.998;0.997	.|T	.|0.63642	.|-0.6591	.|10	.|0.66056	.|D	.|0.02	-5.1298|-5.1298	18.8522|18.8522	0.92237|0.92237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1805;2188;1971	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	X|H	1085|2188;1971;1805;516	.|ENSP00000320485:Q2188H;ENSP00000387636:Q1971H;ENSP00000363267:Q1805H;ENSP00000442437:Q516H	.|ENSP00000320485:Q2188H	E|Q	+|+	1|3	0|2	ARID1A|ARID1A	26979540|26979540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.216000|5.216000	0.65246|0.65246	2.771000|2.771000	0.95319|0.95319	0.591000|0.591000	0.81541|0.81541	GAA|CAG		0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		41	106	1	0	3.05275e-18	0.013114	3.2965e-18	41	106		
AK2	204	broad.mit.edu	37	1	33490112	33490112	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:33490112C>T	ENST00000487289.1	-	2	165	c.150G>A	c.(148-150)ctG>ctA	p.L50L	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000373449.2_Silent_p.L50L|AK2_ENST00000548033.1_Intron|AK2_ENST00000467905.1_Silent_p.L50L|AK2_ENST00000480134.1_Silent_p.L50L|AK2_ENST00000354858.6_Silent_p.L50L					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCATGGCCCTCAGCATGTCCC	0.468																																						uc001bwp.1		NaN																	0					0						c.(148-150)CTG>CTA		adenylate kinase 2 isoform a							77.0	71.0	73.0					1																	33490112		2203	4296	6499	SO:0001819	synonymous_variant	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33490112C>T	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.150G>A	1.37:g.33490112C>T						uc001bwn.2_Intron|AK2_uc001bwo.1_Silent_p.L50L|AK2_uc010ohq.1_Silent_p.L50L|AK2_uc009vud.1_Intron|AK2_uc010ohr.1_Silent_p.L2L|AK2_uc001bwq.1_Silent_p.L2L	p.L50L	NM_001625	NP_001616	P54819	KAD2_HUMAN			2	192	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	50			AMP (By similarity).			Silent	SNP	ENST00000487289.1	37	c.150G>A																																																																																					0.468	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4		NM_001625		16	29	0	0	0	0.028581	0	16	29		
KIAA0754	643314	broad.mit.edu	37	1	39878981	39878981	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39878981C>T	ENST00000530275.1	+	1	2831	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	879	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			GAGCCCACCTCCCCAGCTGCT	0.697																																						uc009vvt.1		NaN																	0					0						c.(3043-3045)TCC>TTC		hypothetical protein LOC643314							6.0	8.0	7.0					1																	39878981		1778	3963	5741	SO:0001583	missense	643314							g.chr1:39878981C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2636C>T	1.37:g.39878981C>T	ENSP00000431179:p.Ser879Phe					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.S1015F	NM_015038	NP_055853	O94854	K0754_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)		1	3806	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	879			Ala-rich.|1.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3044C>T		.	.	.	.	.	.	.	.	.	.	C	12.05	1.820509	0.32145	.	.	ENSG00000255103	ENST00000530275	T	0.25250	1.81	4.34	1.4	0.22301	.	.	.	.	.	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	P	0.36048	0.534	B	0.31751	0.135	T	0.15752	-1.0426	9	0.59425	D	0.04	.	5.8061	0.18440	0.0:0.6534:0.1602:0.1865	.	879	O94854	K0754_HUMAN	F	879	ENSP00000431179:S879F	ENSP00000431179:S879F	S	+	2	0	RP4-562N20.1	39651568	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.136000	0.10405	0.129000	0.18514	0.462000	0.41574	TCC		0.697	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		12	17	0	0	0	0.024245	0	12	17		
MACF1	23499	broad.mit.edu	37	1	39910468	39910468	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39910468G>T	ENST00000372915.3	+	79	19350	c.19263G>T	c.(19261-19263)caG>caT	p.Q6421H	MACF1_ENST00000361689.2_Missense_Mutation_p.Q4463H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6559H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4333H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q6522H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4965H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4463H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4463H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6421					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)			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)			TTTTGGAGCAGAAGTGGCATG	0.438																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14893-14895)CAG>CAT		microfilament and actin filament cross-linker							112.0	101.0	105.0					1																	39910468		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.chr1:39910468G>T	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.19263G>T	1.37:g.39910468G>T	ENSP00000362006:p.Gln6421His					MACF1_uc010ois.1_Missense_Mutation_p.Q4463H	p.Q4965H	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)		45	15026	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14895G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.975614|3.975614	0.74360|0.74360	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.36878	.|1.23;1.23;1.23;1.23;1.23;1.23	6.16|6.16	0.343|0.343	0.16001|0.16001	.|.	.|0.207893	.|0.33959	.|N	.|0.004392	.|T	.|0.41604	.|0.1166	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.996	.|D;D	.|0.64042	.|0.921;0.921	.|T	.|0.23868	.|-1.0176	.|10	.|0.72032	.|D	.|0.01	.|.	7.4148|7.4148	0.27038|0.27038	0.2368:0.2135:0.5497:0.0|0.2368:0.2135:0.5497:0.0	.|.	.|6421;4463	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	X|H	3467|4463;6421;4463;4463;4333;4965	.|ENSP00000439537:Q4463H;ENSP00000362006:Q6421H;ENSP00000354573:Q4463H;ENSP00000313438:Q4463H;ENSP00000444364:Q4333H;ENSP00000289893:Q4965H	.|ENSP00000289893:Q4965H	E|Q	+|+	1|3	0|2	MACF1|MACF1	39683055|39683055	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	1.882000|1.882000	0.39648|0.39648	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		30	36	1	0	2.48696e-23	0.015359	2.74823e-23	30	36		
LEPRE1	64175	broad.mit.edu	37	1	43232529	43232529	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:43232529G>C	ENST00000296388.5	-	1	165	c.114C>G	c.(112-114)ctC>ctG	p.L38L	LEPRE1_ENST00000397054.3_Silent_p.L38L|C1orf50_ENST00000372525.5_5'Flank|LEPRE1_ENST00000236040.4_Silent_p.L38L|C1orf50_ENST00000536543.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	38					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)			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)	CCTCGGCGAAGAGCAGATCAG	0.711																																						uc001chv.2		NaN																	0				ovary(3)|lung(1)	4						c.(112-114)CTC>CTG		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						31.0	27.0	28.0					1																	43232529		2148	4228	6376	SO:0001819	synonymous_variant	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.chr1:43232529G>C	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.114C>G	1.37:g.43232529G>C						LEPRE1_uc001chw.2_Silent_p.L38L|LEPRE1_uc001chx.3_Silent_p.L38L|LEPRE1_uc001chy.3_Silent_p.L38L|LEPRE1_uc001chz.2_Silent_p.L38L|C1orf50_uc001cia.3_5'Flank	p.L38L	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			1	227	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	38			TPR 1.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.114C>G	CCDS472.2																																																																																				0.711	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2		NM_022356		33	53	0	0	0	0.027894	0	33	53		
CACHD1	57685	broad.mit.edu	37	1	65095063	65095063	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:65095063C>A	ENST00000371073.2	+	5	543	c.543C>A	c.(541-543)aaC>aaA	p.N181K	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.N130K			Q5VU97	CAHD1_HUMAN	cache domain containing 1	181					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGAAATCCAACCCTGGAATTA	0.453																																						uc001dbo.1		NaN																	0				ovary(2)	2						c.(388-390)AAC>AAA		cache domain containing 1							149.0	137.0	141.0					1																	65095063		1871	4119	5990	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65095063C>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.543C>A	1.37:g.65095063C>A	ENSP00000360113:p.Asn181Lys					CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	p.N130K	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			5	495	+			181			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.390C>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.960266	0.74016	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22743	1.94;1.95	5.75	3.88	0.44766	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.06826	-1.0805	10	0.45353	T	0.12	-32.1413	12.4551	0.55700	0.0:0.8641:0.0:0.1359	.	181	Q5VU97	CAHD1_HUMAN	K	181;130	ENSP00000360113:N181K;ENSP00000290039:N130K	ENSP00000290039:N130K	N	+	3	2	CACHD1	64867651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.435000	0.44811	0.778000	0.33520	0.655000	0.94253	AAC		0.453	CACHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_020925		26	52	1	0	6.38683e-12	0.008361	6.81902e-12	26	52		
ST6GALNAC3	256435	broad.mit.edu	37	1	77094406	77094406	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:77094406G>A	ENST00000328299.3	+	5	981	c.833G>A	c.(832-834)aGg>aAg	p.R278K		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	278					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGGGGTCATAGGTTTATCACT	0.378																																						uc001dhh.2		NaN																	0				ovary(3)|skin(2)	5						c.(832-834)AGG>AAG		sialyltransferase 7C isoform 1							139.0	142.0	141.0					1																	77094406		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094406G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.833G>A	1.37:g.77094406G>A	ENSP00000329214:p.Arg278Lys					ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R177K	p.R278K	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			5	996	+			278			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.833G>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.758293	0.89843	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.28255	1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.74258	2.255	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.33085	-0.9882	10	0.30854	T	0.27	-11.6428	19.3735	0.94500	0.0:0.0:1.0:0.0	.	177;278	B4DM98;Q8NDV1	.;SIA7C_HUMAN	K	278;277;176	ENSP00000329214:R278K	ENSP00000329214:R278K	R	+	2	0	ST6GALNAC3	76866994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.398000	0.97281	2.644000	0.89710	0.645000	0.84053	AGG		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1		NM_152996		16	32	0	0	0	0.00499	0	16	32		
TMEM56	148534	broad.mit.edu	37	1	95609471	95609471	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:95609471C>G	ENST00000370203.4	+	2	305	c.14C>G	c.(13-15)aCa>aGa	p.T5R	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.T5R|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	5						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GAGATCAACACAAAACTGCTC	0.313																																						uc001drb.2		NaN																	0					0						c.(13-15)ACA>AGA		transmembrane protein 56							116.0	117.0	116.0					1																	95609471		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95609471C>G		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.14C>G	1.37:g.95609471C>G	ENSP00000359222:p.Thr5Arg					RWDD3_uc001drd.3_Missense_Mutation_p.T5R|TMEM56_uc001drc.2_Missense_Mutation_p.T5R	p.T5R	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	2	305	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	5					B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.14C>G	CCDS753.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607430	0.28623	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	.	.	.	5.18	-4.62	0.03370	.	0.780621	0.12051	N	0.504053	T	0.08447	0.0210	M	0.63428	1.95	0.31558	N	0.65791	P;P	0.42409	0.779;0.779	B;B	0.31191	0.125;0.125	T	0.13495	-1.0507	8	0.27082	T	0.32	2.3211	3.6151	0.08074	0.3744:0.1659:0.3793:0.0804	.	5;5	C9JJM2;Q96MV1	.;TMM56_HUMAN	R	5	.	ENSP00000359222:T5R	T	+	2	0	TMEM56	95382059	0.062000	0.20869	0.000000	0.03702	0.000000	0.00434	0.113000	0.15499	-0.714000	0.04975	-1.132000	0.01976	ACA		0.313	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1		NM_152487		17	16	0	0	0	0.014323	0	17	16		
PHTF1	10745	broad.mit.edu	37	1	114247322	114247322	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:114247322A>C	ENST00000369604.1	-	14	2252	c.1769T>G	c.(1768-1770)aTt>aGt	p.I590S	PHTF1_ENST00000369600.1_Missense_Mutation_p.I537S|PHTF1_ENST00000369598.1_Missense_Mutation_p.I545S|PHTF1_ENST00000393357.2_Missense_Mutation_p.I590S|PHTF1_ENST00000369596.2_Missense_Mutation_p.I537S|PHTF1_ENST00000357783.2_Missense_Mutation_p.I590S|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	590					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATATTTTAATATTCTCCAC	0.353																																						uc009wgp.1		NaN																	0				ovary(1)	1						c.(1768-1770)ATT>AGT		putative homeodomain transcription factor 1							79.0	86.0	83.0					1																	114247322		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114247322A>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1769T>G	1.37:g.114247322A>C	ENSP00000358617:p.Ile590Ser					PHTF1_uc001edn.2_Missense_Mutation_p.I590S|PHTF1_uc001edm.2_Missense_Mutation_p.I347S	p.I590S	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2221	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	590					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1769T>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592446	0.86953	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79009	-0.1978	9	0.87932	D	0	-25.3126	15.7935	0.78388	1.0:0.0:0.0:0.0	.	590;590	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	S	545;590;537;545;537;590;590	.	ENSP00000350428:I590S	I	-	2	0	PHTF1	114048845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.136000	0.66102	0.482000	0.46254	ATT		0.353	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1		NM_006608		10	25	0	0	0	0.008291	0	10	25		
CSDE1	7812	broad.mit.edu	37	1	115261332	115261332	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:115261332C>T	ENST00000358528.4	-	19	2677	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N	NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000534699.1_Missense_Mutation_p.D751N|CSDE1_ENST00000261443.5_Missense_Mutation_p.D720N|CSDE1_ENST00000369530.1_Missense_Mutation_p.D766N|CSDE1_ENST00000339438.6_Missense_Mutation_p.D720N|CSDE1_ENST00000438362.2_Missense_Mutation_p.D797N|CSDE1_ENST00000530886.1_Missense_Mutation_p.D621N	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	751					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAACCGATCAGGTCGAGGA	0.502																																						uc001efk.2		NaN																	0				ovary(1)	1						c.(2251-2253)GAT>AAT		upstream of NRAS isoform 1							70.0	63.0	65.0					1																	115261332		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115261332C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2251G>A	1.37:g.115261332C>T	ENSP00000351329:p.Asp751Asn					NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Missense_Mutation_p.D797N|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D720N|CSDE1_uc001efm.2_Missense_Mutation_p.D766N|CSDE1_uc009wgv.2_Missense_Mutation_p.D751N|CSDE1_uc001efn.2_Missense_Mutation_p.D720N	p.D751N	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	2717	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	751					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.2251G>A	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885262	0.72410	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.95	5.95	0.96441	.	0.149182	0.64402	D	0.000007	T	0.63070	0.2480	L	0.53249	1.67	0.80722	D	1	P;P;P	0.49961	0.799;0.734;0.93	B;B;P	0.49683	0.395;0.239;0.619	T	0.65463	-0.6162	9	0.66056	D	0.02	-9.9604	20.3932	0.98965	0.0:1.0:0.0:0.0	.	766;751;797	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	720;797;751;720;621;766;751	.	ENSP00000261443:D720N	D	-	1	0	CSDE1	115062855	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.433000	0.80362	2.824000	0.97209	0.655000	0.94253	GAT		0.502	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1		NM_007158		12	31	0	0	0	0.016723	0	12	31		
PTGFRN	5738	broad.mit.edu	37	1	117529499	117529499	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:117529499C>T	ENST00000393203.2	+	9	2697	c.2550C>T	c.(2548-2550)atC>atT	p.I850I		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	850					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTGTCTCATCGGGTACTGCA	0.607																																						uc001egv.1		NaN																	0				liver(1)	1						c.(2548-2550)ATC>ATT		prostaglandin F2 receptor negative regulator							112.0	104.0	107.0					1																	117529499		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529499C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2550C>T	1.37:g.117529499C>T							p.I850I	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2687	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	850			Helical; (Potential).		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.2550C>T	CCDS890.1																																																																																				0.607	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1		NM_020440		53	77	0	0	0	0.01441	0	53	77		
CD5L	922	broad.mit.edu	37	1	157803159	157803159	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:157803159C>T	ENST00000368174.4	-	5	958	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	288	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGACTTCCCACAGCCCAGT	0.587																																						uc001frk.3		NaN																	0				ovary(1)	1						c.(862-864)GGG>AGG		CD5 molecule-like precursor							131.0	133.0	132.0					1																	157803159		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803159C>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.862G>A	1.37:g.157803159C>T	ENSP00000357156:p.Gly288Arg						p.G288R	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1005	-	all_hematologic(112;0.0378)		288			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.862G>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863118	0.71949	.	.	ENSG00000073754	ENST00000368174	T	0.37915	1.17	4.88	4.88	0.63580	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.45617	0.1351	M	0.65498	2.005	0.41100	D	0.985665	D	0.71674	0.998	D	0.74023	0.982	T	0.49390	-0.8945	10	0.87932	D	0	.	9.0251	0.36224	0.0:0.9018:0.0:0.0981	.	288	O43866	CD5L_HUMAN	R	288	ENSP00000357156:G288R	ENSP00000357156:G288R	G	-	1	0	CD5L	156069783	1.000000	0.71417	0.994000	0.49952	0.597000	0.36814	4.581000	0.60949	2.513000	0.84729	0.655000	0.94253	GGG		0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1		NM_005894		43	125	0	0	0	0.013114	0	43	125		
MAEL	84944	broad.mit.edu	37	1	166973535	166973535	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:166973535C>T	ENST00000367872.4	+	6	886	c.642C>T	c.(640-642)taC>taT	p.Y214Y	MAEL_ENST00000367870.2_Silent_p.Y183Y|MAEL_ENST00000491055.1_3'UTR|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	214					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CACCTATCTACTGCAAGGTAA	0.343																																						uc001gdy.1		NaN																	0				skin(1)	1						c.(640-642)TAC>TAT		maelstrom homolog							66.0	68.0	68.0					1																	166973535		2203	4300	6503	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166973535C>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.642C>T	1.37:g.166973535C>T						MAEL_uc001gdz.1_Silent_p.Y183Y|MAEL_uc009wvf.1_RNA	p.Y214Y	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			6	713	+			214					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.642C>T	CCDS1257.1																																																																																				0.343	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1		NM_032858		5	31	0	0	0	0.00308	0	5	31		
FMO3	2328	broad.mit.edu	37	1	171085395	171085395	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:171085395G>A	ENST00000367755.4	+	8	1342	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	FMO3_ENST00000392085.2_Missense_Mutation_p.E411K|FMO3_ENST00000542847.1_Missense_Mutation_p.E391K|FMO3_ENST00000538429.1_Missense_Mutation_p.E348K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	411					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.E411Q(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGATATTAATGAGAAAATGGA	0.358																																						uc001ghi.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1231-1233)GAG>AAG		flavin containing monooxygenase 3							133.0	133.0	133.0					1																	171085395		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171085395G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1231G>A	1.37:g.171085395G>A	ENSP00000356729:p.Glu411Lys					FMO3_uc001ghh.2_Missense_Mutation_p.E411K|FMO3_uc010pmb.1_Missense_Mutation_p.E391K|FMO3_uc010pmc.1_Missense_Mutation_p.E348K	p.E411K	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			8	1342	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		411					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1231G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722038	0.03182	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.71	1.73	0.24493	.	0.506092	0.22730	N	0.056334	T	0.10035	0.0246	N	0.25380	0.74	0.35227	D	0.776552	B;B;B	0.25272	0.122;0.0;0.0	B;B;B	0.23275	0.045;0.005;0.006	T	0.25572	-1.0128	10	0.02654	T	1	-4.9741	8.0579	0.30617	0.3606:0.0:0.6394:0.0	.	348;391;411	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	K	411;411;391;348	ENSP00000356729:E411K;ENSP00000375935:E411K;ENSP00000444073:E391K;ENSP00000439500:E348K	ENSP00000356729:E411K	E	+	1	0	FMO3	169352019	0.933000	0.31639	0.183000	0.23137	0.614000	0.37383	0.235000	0.17948	0.177000	0.19895	0.644000	0.83932	GAG		0.358	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		11	23	0	0	0	0.020292	0	11	23		
SUCO	51430	broad.mit.edu	37	1	172558282	172558282	+	Missense_Mutation	SNP	C	C	G	rs201179674		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:172558282C>G	ENST00000263688.3	+	18	2260	c.2041C>G	c.(2041-2043)Ctg>Gtg	p.L681V	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.L832V|SUCO_ENST00000608151.1_Missense_Mutation_p.L833V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	681					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATTGCAACCTCTGAGTGGAGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		21242	0.0		0.001	False		,,,				2504	0.0					uc001giq.3		NaN																	0				ovary(2)	2						c.(2041-2043)CTG>GTG		chromosome 1 open reading frame 9 protein							100.0	99.0	99.0					1																	172558282		2203	4299	6502	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558282C>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2041C>G	1.37:g.172558282C>G	ENSP00000263688:p.Leu681Val					C1orf9_uc010pmm.1_Missense_Mutation_p.L681V|C1orf9_uc009wwd.2_Missense_Mutation_p.L637V|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	p.L681V	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2357	+		Breast(1374;0.212)	681					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2041C>G	CCDS1303.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.007	-2.015794	0.00422	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	3.4	0.38934	.	0.565097	0.19243	N	0.119102	T	0.08088	0.0202	N	0.19112	0.55	0.21897	N	0.999488	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.12837	0.005;0.008;0.003	T	0.37686	-0.9695	9	0.08381	T	0.77	-0.0035	8.1539	0.31156	0.0:0.7517:0.0:0.2483	.	681;833;681	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	833;681	.	ENSP00000263688:L681V	L	+	1	2	C1orf9	170824905	0.000000	0.05858	0.287000	0.24848	0.455000	0.32408	-0.041000	0.12084	0.614000	0.30107	0.563000	0.77884	CTG		0.408	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1		NM_016227		15	81	0	0	0	0.007413	0	15	81		
SLC9C2	284525	broad.mit.edu	37	1	173517647	173517647	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:173517647C>G	ENST00000367714.3	-	12	1764	c.1342G>C	c.(1342-1344)Gcc>Ccc	p.A448P	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A346P	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	448					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TGCTGAGTGGCATTTTGCAAG	0.363																																						uc001giz.2		NaN																	0				ovary(2)	2						c.(1342-1344)GCC>CCC		solute carrier family 9, member 11							127.0	119.0	122.0					1																	173517647		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173517647C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1342G>C	1.37:g.173517647C>G	ENSP00000356687:p.Ala448Pro					SLC9A11_uc009wwe.2_Missense_Mutation_p.A6P|SLC9A11_uc010pmq.1_RNA	p.A448P	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			12	1765	-			448					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1342G>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037505	0.35989	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.27557	1.66;1.66	4.63	2.75	0.32379	.	0.249250	0.27941	N	0.017238	T	0.29355	0.0731	L	0.57536	1.79	0.24991	N	0.991538	D	0.76494	0.999	D	0.67231	0.95	T	0.06954	-1.0798	10	0.56958	D	0.05	-4.0231	7.1988	0.25868	0.0:0.7909:0.0:0.2091	.	448	Q5TAH2	S9A11_HUMAN	P	448;346	ENSP00000356687:A448P;ENSP00000445437:A346P	ENSP00000356687:A448P	A	-	1	0	SLC9A11	171784270	1.000000	0.71417	0.996000	0.52242	0.228000	0.25075	1.225000	0.32551	0.500000	0.27991	-0.490000	0.04691	GCC		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527		14	26	0	0	0	0.006122	0	14	26		
CEP350	9857	broad.mit.edu	37	1	179989148	179989148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:179989148C>T	ENST00000367607.3	+	12	2657	c.2239C>T	c.(2239-2241)Caa>Taa	p.Q747*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	747					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCACCATTCTCAACCACAGCC	0.383																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(2239-2241)CAA>TAA		centrosome-associated protein 350							146.0	150.0	148.0					1																	179989148		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:179989148C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2239C>T	1.37:g.179989148C>T	ENSP00000356579:p.Gln747*					CEP350_uc009wxl.2_Nonsense_Mutation_p.Q746*|CEP350_uc001gnu.2_Nonsense_Mutation_p.Q581*	p.Q747*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	2622	+			747					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.2239C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	42	9.658541	0.99231	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.68	5.68	0.88126	.	0.154508	0.30365	N	0.009799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9663	0.53038	0.0:0.9197:0.0:0.0803	.	.	.	.	X	747	.	.	Q	+	1	0	CEP350	178255771	0.999000	0.42202	0.996000	0.52242	0.995000	0.86356	3.500000	0.53318	2.702000	0.92279	0.655000	0.94253	CAA		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		45	92	0	0	0	0.01441	0	45	92		
CEP350	9857	broad.mit.edu	37	1	180063622	180063622	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:180063622G>A	ENST00000367607.3	+	34	8800	c.8382G>A	c.(8380-8382)aaG>aaA	p.K2794K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2794					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGACCAAAAGAAAGTAACAC	0.388																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(8380-8382)AAG>AAA		centrosome-associated protein 350							68.0	69.0	69.0					1																	180063622		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180063622G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8382G>A	1.37:g.180063622G>A						CEP350_uc009wxl.2_Silent_p.K2793K|CEP350_uc001gnv.2_Silent_p.K929K|CEP350_uc001gnw.1_Silent_p.K551K|CEP350_uc001gnx.1_Silent_p.K551K	p.K2794K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	8765	+			2794					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.8382G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002521	0.02128	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.31	2.29	0.28610	.	.	.	.	.	T	0.32133	0.0819	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	.	6.4701	0.22003	0.2211:0.1388:0.64:0.0	.	.	.	.	K	969	.	.	E	+	1	0	CEP350	178330245	0.954000	0.32549	0.001000	0.08648	0.680000	0.39746	0.771000	0.26633	0.687000	0.31509	0.591000	0.81541	GAA		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		3	8	0	0	0	0.014758	0	3	8		
PRG4	10216	broad.mit.edu	37	1	186276169	186276169	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:186276169C>A	ENST00000445192.2	+	7	1363	c.1318C>A	c.(1318-1320)Ccc>Acc	p.P440T	PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P397T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	440	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P440T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCCCCAAGAAGCC	0.652																																						uc001gru.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(1318-1320)CCC>ACC		proteoglycan 4 isoform A							76.0	84.0	81.0					1																	186276169		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276169C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1318C>A	1.37:g.186276169C>A	ENSP00000399679:p.Pro440Thr					PRG4_uc001grt.3_Missense_Mutation_p.P399T|PRG4_uc009wyl.2_Missense_Mutation_p.P347T|PRG4_uc009wym.2_Missense_Mutation_p.P306T|PRG4_uc010poo.1_Intron	p.P440T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1369	+			440			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|12.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1318C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.055	-0.194511	0.06259	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.44;3.51;3.41;3.54	3.56	-3.32	0.04973	.	2.159030	0.03971	U	0.291606	T	0.06826	0.0174	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.004;0.007	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.44283	-0.9338	9	.	.	.	.	11.4615	0.50213	0.1053:0.4341:0.4606:0.0	.	306;347;440;399	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	397;306;399;347;440	ENSP00000356456:P397T;ENSP00000356453:P399T;ENSP00000356455:P347T;ENSP00000399679:P440T	.	P	+	1	0	PRG4	184542792	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-0.227000	0.09884	-1.583000	0.00853	CCC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		5	99	1	0	0.000602214	0.014758	0.000608644	5	99		
CDC73	79577	broad.mit.edu	37	1	193121533	193121533	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:193121533A>G	ENST00000367435.3	+	10	1115	c.931A>G	c.(931-933)Act>Gct	p.T311A		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	311	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTGACACTATGGGAAC	0.333																																						uc001gtb.2		NaN																	0				parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(931-933)ACT>GCT		parafibromin							138.0	122.0	128.0					1																	193121533		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193121533A>G	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.931A>G	1.37:g.193121533A>G	ENSP00000356405:p.Thr311Ala						p.T311A	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			10	1174	+			311					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.931A>G	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632241	0.87660	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80759	-0.1239	10	0.35671	T	0.21	-14.9084	14.1678	0.65488	1.0:0.0:0.0:0.0	.	311	Q6P1J9	CDC73_HUMAN	A	311	ENSP00000356405:T311A	ENSP00000356405:T311A	T	+	1	0	CDC73	191388156	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.743000	0.74848	1.988000	0.58038	0.477000	0.44152	ACT		0.333	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2		NM_024529		12	11	0	0	0	0.028581	0	12	11		
FAM71A	149647	broad.mit.edu	37	1	212798352	212798352	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:212798352A>T	ENST00000294829.3	+	1	564	c.133A>T	c.(133-135)Ata>Tta	p.I45L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	45						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTATGCACCGATATTTGAGAG	0.512																																						uc001hjk.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(133-135)ATA>TTA		hypothetical protein LOC149647							180.0	162.0	168.0					1																	212798352		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798352A>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.133A>T	1.37:g.212798352A>T	ENSP00000294829:p.Ile45Leu					uc010pth.1_Intron	p.I45L	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	537	+			45					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.133A>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347678	0.41599	.	.	ENSG00000162771	ENST00000294829	T	0.04654	3.58	4.57	2.17	0.27698	.	0.170280	0.38897	N	0.001534	T	0.07188	0.0182	M	0.70275	2.135	0.09310	N	1	P	0.41978	0.767	B	0.40940	0.344	T	0.17899	-1.0354	10	0.62326	D	0.03	-21.5749	6.5421	0.22387	0.8039:0.0:0.1961:0.0	.	45	Q8IYT1	FA71A_HUMAN	L	45	ENSP00000294829:I45L	ENSP00000294829:I45L	I	+	1	0	FAM71A	210864975	0.095000	0.21747	0.008000	0.14137	0.989000	0.77384	1.169000	0.31871	0.344000	0.23847	0.477000	0.44152	ATA		0.512	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1		NM_153606		44	114	0	0	0	0.01441	0	44	114		
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:228362441C>A	ENST00000366711.3	+	2	392	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	130					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.S130R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662																																						uc001hsl.3		NaN																	2	Substitution - Missense(2)		prostate(1)|central_nervous_system(1)		0						c.(388-390)AGC>AGA		hypothetical protein LOC200205 precursor							24.0	24.0	24.0					1																	228362441		2199	4296	6495	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362441C>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.390C>A	1.37:g.228362441C>A	ENSP00000355672:p.Ser130Arg					C1orf69_uc010pvw.1_5'UTR	p.S130R	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	479	+		Prostate(94;0.0405)	130						Missense_Mutation	SNP	ENST00000366711.3	37	c.390C>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	7.793	0.711906	0.15306	.	.	ENSG00000181873	ENST00000366711	T	0.75154	-0.91	4.65	0.706	0.18133	Glycine cleavage T-protein, N-terminal (1);	0.591122	0.18565	N	0.137486	T	0.57651	0.2068	N	0.25647	0.755	0.20307	N	0.999915	B	0.12013	0.005	B	0.20384	0.029	T	0.42582	-0.9443	10	0.28530	T	0.3	-8.2527	8.9387	0.35715	0.0:0.6235:0.0:0.3765	.	130	Q5T440	CAF17_HUMAN	R	130	ENSP00000355672:S130R	ENSP00000355672:S130R	S	+	3	2	IBA57	226429064	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-0.053000	0.11846	-0.022000	0.13986	0.655000	0.94253	AGC		0.662	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1		NM_001010867		6	36	1	0	0.00448238	0.004482	0.00451417	6	36		
OBSCN	84033	broad.mit.edu	37	1	228400372	228400372	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:228400372C>G	ENST00000422127.1	+	2	932	c.888C>G	c.(886-888)ctC>ctG	p.L296L	OBSCN_ENST00000570156.2_Silent_p.L296L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L296L|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	296	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTTCGTGCTCAAGATCCTCT	0.657																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(886-888)CTC>CTG		obscurin, cytoskeletal calmodulin and							47.0	55.0	52.0					1																	228400372		2117	4214	6331	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400372C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.888C>G	1.37:g.228400372C>G						OBSCN_uc001hsn.2_Silent_p.L296L|uc001hsm.1_RNA	p.L296L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			2	932	+		Prostate(94;0.0405)	296			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.888C>G	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		42	110	0	0	0	0.01441	0	42	110		
GALNT2	2590	broad.mit.edu	37	1	230398367	230398367	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:230398367C>G	ENST00000366672.4	+	12	1257	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.F357L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	395					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACAAAAATTTCTATTATGCAG	0.448																																						uc010pwa.1		NaN																	0				ovary(2)	2						c.(1183-1185)TTC>TTG		polypeptide N-acetylgalactosaminyltransferase 2							149.0	172.0	164.0					1																	230398367		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230398367C>G	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1185C>G	1.37:g.230398367C>G	ENSP00000355632:p.Phe395Leu					GALNT2_uc010pvy.1_Missense_Mutation_p.F357L|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Missense_Mutation_p.F7L	p.F395L	NM_004481	NP_004472	Q10471	GALT2_HUMAN			12	1257	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	395			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1185C>G	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420402	0.42918	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.69926	-0.44;-0.44	4.76	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.40543	1.245	0.80722	D	1	B;B	0.24920	0.114;0.072	B;B	0.15484	0.006;0.013	T	0.50457	-0.8826	10	0.45353	T	0.12	.	10.7858	0.46405	0.0:0.7787:0.0:0.2213	.	395;357	Q10471;G3V1S6	GALT2_HUMAN;.	L	357;395;276	ENSP00000445017:F357L;ENSP00000355632:F395L	ENSP00000355632:F395L	F	+	3	2	GALNT2	228464990	1.000000	0.71417	0.882000	0.34594	0.959000	0.62525	3.228000	0.51270	0.545000	0.28902	0.462000	0.41574	TTC		0.448	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481		65	146	0	0	0	0.01441	0	65	146		
OR2G3	81469	broad.mit.edu	37	1	247768909	247768909	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:247768909T>A	ENST00000320002.2	+	1	54	c.22T>A	c.(22-24)Tcc>Acc	p.S8T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAATGAGAGTTCCCTAATGGA	0.468																																						uc010pyz.1		NaN																	0				central_nervous_system(1)	1						c.(22-24)TCC>ACC		olfactory receptor, family 2, subfamily G,							153.0	155.0	154.0					1																	247768909		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247768909T>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.22T>A	1.37:g.247768909T>A	ENSP00000326301:p.Ser8Thr						p.S8T	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	22	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		8			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.22T>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471907	0.26423	.	.	ENSG00000177476	ENST00000320002	T	0.00515	6.87	3.64	-2.69	0.06022	.	0.779554	0.10473	U	0.670597	T	0.00356	0.0011	L	0.28400	0.85	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.28235	-1.0050	10	0.30078	T	0.28	.	6.8695	0.24113	0.1433:0.0:0.4957:0.361	.	8	Q8NGZ4	OR2G3_HUMAN	T	8	ENSP00000326301:S8T	ENSP00000326301:S8T	S	+	1	0	OR2G3	245835532	0.000000	0.05858	0.001000	0.08648	0.266000	0.26442	-2.421000	0.01031	-0.609000	0.05724	0.398000	0.26397	TCC		0.468	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1				23	37	0	0	0	0.010818	0	23	37		
SKIDA1	387640	broad.mit.edu	37	10	21804750	21804750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:21804750C>A	ENST00000449193.2	-	4	4254	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.E589*	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	587						nucleus (GO:0005634)											CAGGGATTCTCGGCTTTAGTT	0.433																																						uc009xkd.2		NaN																	0				ovary(1)	1						c.(2002-2004)GAG>TAG		hypothetical protein LOC387640							52.0	54.0	53.0					10																	21804750		1951	4175	6126	SO:0001587	stop_gained	387640					nucleus	nucleotide binding	g.chr10:21804750C>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2002G>T	10.37:g.21804750C>A	ENSP00000410041:p.Glu668*					uc001iqp.1_Intron	p.E668*	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4255	-			587					B1ANA5|Q6ZMX4|Q8N3C3	Nonsense_Mutation	SNP	ENST00000449193.2	37	c.2002G>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739046	0.69304	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.76	5.76	0.90799	.	0.495328	0.20615	N	0.088893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.51	18.6214	0.91322	0.0:1.0:0.0:0.0	.	.	.	.	X	668;589	.	ENSP00000442432:E589X	E	-	1	0	C10orf140	21844756	0.994000	0.37717	0.991000	0.47740	0.112000	0.19704	2.515000	0.45512	2.737000	0.93849	0.644000	0.83932	GAG		0.433	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		14	18	1	0	9.16793e-09	0.00499	9.53733e-09	14	18		
BLOC1S2	282991	broad.mit.edu	37	10	102045870	102045870	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:102045870C>T	ENST00000370372.2	-	2	208	c.156G>A	c.(154-156)ctG>ctA	p.L52L	BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_Silent_p.L9L	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	52					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GTTCCCCAGTCAGGTAAGTGG	0.597																																						uc001kqw.1		NaN																	0				ovary(1)	1						c.(154-156)CTG>CTA		biogenesis of lysosome-related organelles							120.0	108.0	112.0					10																	102045870		2203	4300	6503	SO:0001819	synonymous_variant	282991				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	g.chr10:102045870C>T	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.156G>A	10.37:g.102045870C>T						BLOC1S2_uc001kqv.1_Silent_p.L9L	p.L52L	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)	2	179	-		Colorectal(252;0.117)	52					B4DQV2|Q5W040|Q8WUI8	Silent	SNP	ENST00000370372.2	37	c.156G>A	CCDS7490.1																																																																																				0.597	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2		NM_173809		70	167	0	0	0	0.01441	0	70	167		
INPP5A	3632	broad.mit.edu	37	10	134591246	134591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:134591246G>A	ENST00000368594.3	+	13	1326	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	350					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGTGACCGCATCCTCATG	0.652																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NaN																	0				skin(1)	1						c.(1048-1050)CGC>CAC		inositol polyphosphate-5-phosphatase A							96.0	72.0	80.0					10																	134591246		2202	4297	6499	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134591246G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1049G>A	10.37:g.134591246G>A	ENSP00000357583:p.Arg350His					INPP5A_uc001llo.1_Missense_Mutation_p.R350H|INPP5A_uc001llq.2_Missense_Mutation_p.R245H	p.R350H	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	13	1297	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	350					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.1049G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	32	5.128457	0.94473	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898;ENST00000445580	T;T;D	0.95272	-1.38;-1.38;-3.66	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.966;0.998	D	0.98737	1.0715	10	0.87932	D	0	-25.1995	17.3108	0.87210	0.0:0.0:1.0:0.0	.	293;350;350	F5GWM1;Q14642;Q5T1B5	.;I5P1_HUMAN;.	H	350;350;293;267;32	ENSP00000357583:R350H;ENSP00000357582:R350H;ENSP00000390749:R32H	ENSP00000357582:R350H	R	+	2	0	INPP5A	134441236	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	8.878000	0.92393	2.166000	0.68216	0.491000	0.48974	CGC		0.652	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		NM_005539		36	56	0	0	0	0.007835	0	36	56		
CDHR5	53841	broad.mit.edu	37	11	621088	621088	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:621088G>A	ENST00000358353.3	-	8	1103	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	CDHR5_ENST00000349570.7_Missense_Mutation_p.H261Y|CDHR5_ENST00000397542.2_Missense_Mutation_p.H261Y			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	261	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCAGTATGTGCCCCGTGGGG	0.672																																						uc001lqj.2		NaN																	0					0						c.(781-783)CAC>TAC		mucin and cadherin-like isoform 1							38.0	34.0	35.0					11																	621088		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621088G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.781C>T	11.37:g.621088G>A	ENSP00000351118:p.His261Tyr					CDHR5_uc001lqk.2_Missense_Mutation_p.H261Y|CDHR5_uc009ycc.2_Missense_Mutation_p.H95Y|CDHR5_uc009ycd.2_Missense_Mutation_p.H261Y|CDHR5_uc001lql.2_Missense_Mutation_p.H261Y|CDHR5_uc001lqm.2_Missense_Mutation_p.H95Y|CDHR5_uc009yce.1_Missense_Mutation_p.H230Y	p.H261Y	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			7	886	-			261			Cadherin 3.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.781C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325039	0.24080	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	D;D;D	0.82081	-1.57;-1.57;-1.57	4.08	1.7	0.24286	Cadherin (2);Cadherin-like (1);	0.500739	0.15016	N	0.285243	T	0.67221	0.2870	L	0.35288	1.05	0.09310	N	1	B;B;B;B;B	0.27625	0.004;0.095;0.095;0.183;0.183	B;B;B;B;B	0.30782	0.003;0.028;0.034;0.069;0.12	T	0.53968	-0.8363	10	0.02654	T	1	-23.2837	4.7218	0.12922	0.3446:0.0:0.6554:0.0	.	261;261;254;261;261	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	Y	261	ENSP00000380676:H261Y;ENSP00000351118:H261Y;ENSP00000345726:H261Y	ENSP00000326527:H261Y	H	-	1	0	CDHR5	611088	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	0.072000	0.14617	0.856000	0.35383	0.561000	0.74099	CAC		0.672	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		28	49	0	0	0	0.013726	0	28	49		
PIDD1	55367	broad.mit.edu	37	11	801284	801284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:801284G>T	ENST00000347755.5	-	9	1705	c.1564C>A	c.(1564-1566)Cag>Aag	p.Q522K	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.Q522K	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GGACCGCTCTGTGACAGGCAC	0.677																																						uc001lro.1		NaN																	0					0						c.(1564-1566)CAG>AAG		leucine rich repeat and death domain containing							21.0	27.0	25.0					11																	801284		2193	4293	6486	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:801284G>T																												ENST00000347755.5:c.1564C>A	11.37:g.801284G>T	ENSP00000337797:p.Gln522Lys					LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.Q522K|LRDD_uc001lrl.1_Missense_Mutation_p.Q376K|LRDD_uc001lrm.1_Missense_Mutation_p.Q209K|LRDD_uc001lrn.1_Missense_Mutation_p.Q376K|LRDD_uc001lrp.1_Missense_Mutation_p.Q160K	p.Q522K	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1706	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	522			ZU5 2.			Missense_Mutation	SNP	ENST00000347755.5	37	c.1564C>A	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796956	0.70567	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.41400	1.0;1.0	4.59	4.59	0.56863	ZU5 (2);	0.000000	0.64402	D	0.000001	T	0.54806	0.1881	L	0.34521	1.04	0.49483	D	0.999795	D;D;D;D	0.76494	0.999;0.999;0.996;0.998	D;D;D;D	0.87578	0.972;0.998;0.979;0.995	T	0.59134	-0.7511	10	0.66056	D	0.02	.	17.1832	0.86860	0.0:0.0:1.0:0.0	.	209;522;376;522	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	K	522	ENSP00000416801:Q522K;ENSP00000337797:Q522K	ENSP00000337797:Q522K	Q	-	1	0	PIDD	791284	1.000000	0.71417	0.028000	0.17463	0.154000	0.21943	5.818000	0.69236	2.374000	0.81015	0.561000	0.74099	CAG		0.677	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1				27	51	1	0	7.63505e-26	0.012213	8.47013e-26	27	51		
NUP98	4928	broad.mit.edu	37	11	3720533	3720533	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:3720533C>A	ENST00000324932.7	-	25	4208	c.3788G>T	c.(3787-3789)tGg>tTg	p.W1263L	NUP98_ENST00000355260.3_Missense_Mutation_p.W1263L|NUP98_ENST00000359171.4_Missense_Mutation_p.W1263L|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1280					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGGTGGCCccatagggcttc	0.473			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(3787-3789)TGG>TTG		nucleoporin 98kD isoform 1							77.0	80.0	79.0					11																	3720533		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720533C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3788G>T	11.37:g.3720533C>A	ENSP00000316032:p.Trp1263Leu					NUP98_uc001lyi.2_Missense_Mutation_p.W1263L|NUP98_uc001lyg.2_Missense_Mutation_p.W228L	p.W1263L	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4079	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1280					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3788G>T	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.020024|5.020024	0.93462|0.93462	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78117|0.78117	0.4233|0.4233	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.997	T|T	0.79203|0.79203	-0.1900|-0.1900	5|9	.|0.72032	.|D	.|0.01	-5.4145|-5.4145	18.6268|18.6268	0.91342|0.91342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1263;1263;1177	.|P52948-2;P52948-5;P52948-6	.|.;.;.	I|L	215|1263	.|.	.|ENSP00000316032:W1263L	M|W	-|-	3|2	0|0	NUP98|NUP98	3677109|3677109	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	6.998000|6.998000	0.76277|0.76277	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.473	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		40	40	1	0	5.73435e-26	0.01441	6.38649e-26	40	40		
ZNF214	7761	broad.mit.edu	37	11	7022651	7022651	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:7022651T>G	ENST00000278314.4	-	3	578	c.263A>C	c.(262-264)cAa>cCa	p.Q88P	ZNF214_ENST00000536068.1_Missense_Mutation_p.Q88P|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATCTGTCCCTTGAACAGTTTC	0.438																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NaN																	0				skin(1)	1						c.(262-264)CAA>CCA		zinc finger protein 214							319.0	314.0	315.0					11																	7022651		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022651T>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.263A>C	11.37:g.7022651T>G	ENSP00000278314:p.Gln88Pro					ZNF214_uc010ray.1_Missense_Mutation_p.Q88P|ZNF214_uc009yfh.1_Missense_Mutation_p.Q88P	p.Q88P	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	566	-			88					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.263A>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223801	0.39300	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.07688	3.17;3.17	4.14	1.62	0.23740	.	0.687923	0.12123	N	0.497524	T	0.04497	0.0123	N	0.08118	0	0.29024	N	0.886132	B	0.12630	0.006	B	0.12837	0.008	T	0.38650	-0.9651	10	0.31617	T	0.26	.	9.1874	0.37178	0.0:0.0:0.3546:0.6453	.	88	Q9UL59	ZN214_HUMAN	P	88	ENSP00000278314:Q88P;ENSP00000445373:Q88P	ENSP00000278314:Q88P	Q	-	2	0	ZNF214	6979227	0.002000	0.14202	0.018000	0.16275	0.043000	0.13939	1.113000	0.31184	0.205000	0.20568	0.533000	0.62120	CAA		0.438	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1				122	166	0	0	0	0.01441	0	122	166		
MICAL2	9645	broad.mit.edu	37	11	12247845	12247845	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:12247845G>A	ENST00000256194.4	+	14	2104	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	MICAL2_ENST00000527546.1_Missense_Mutation_p.D606N|MICAL2_ENST00000342902.5_Missense_Mutation_p.D606N|MICAL2_ENST00000379612.3_Missense_Mutation_p.D606N|MICAL2_ENST00000537344.1_Missense_Mutation_p.D606N	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	606	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCAGGAGCCTGACAAGCTCAG	0.572																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(1816-1818)GAC>AAC		microtubule associated monoxygenase, calponin							130.0	112.0	118.0					11																	12247845		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12247845G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1816G>A	11.37:g.12247845G>A	ENSP00000256194:p.Asp606Asn					MICAL2_uc010rch.1_Missense_Mutation_p.D606N|MICAL2_uc001mka.2_Missense_Mutation_p.D606N|MICAL2_uc010rci.1_Missense_Mutation_p.D606N|MICAL2_uc001mkb.2_Missense_Mutation_p.D606N|MICAL2_uc001mkc.2_Missense_Mutation_p.D606N|MICAL2_uc001mkd.2_Missense_Mutation_p.D435N|MICAL2_uc010rcj.1_Missense_Mutation_p.D8N	p.D606N	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	14	2104	+			606			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1816G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667590	0.88348	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.28	5.28	0.74379	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	M	0.92604	3.325	0.80722	D	1	P;D;D;D;D;D	0.76494	0.864;0.999;0.999;0.985;0.999;0.985	P;D;D;D;D;D	0.91635	0.827;0.999;0.999;0.94;0.999;0.911	D	0.90621	0.4559	10	0.62326	D	0.03	.	18.526	0.90973	0.0:0.0:1.0:0.0	.	139;606;606;606;606;606	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	N	606;139;606;606;606;606	ENSP00000441689:D606N;ENSP00000256194:D606N;ENSP00000433965:D606N;ENSP00000344894:D606N;ENSP00000368932:D606N	ENSP00000256194:D606N	D	+	1	0	MICAL2	12204421	1.000000	0.71417	0.963000	0.40424	0.534000	0.34807	9.869000	0.99810	2.466000	0.83321	0.563000	0.77884	GAC		0.572	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		30	57	0	0	0	0.010818	0	30	57		
KCNJ11	3767	broad.mit.edu	37	11	17409117	17409117	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:17409117G>T	ENST00000339994.4	-	1	1089	c.522C>A	c.(520-522)gcC>gcA	p.A174A	KCNJ11_ENST00000528731.1_Silent_p.A87A|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	174					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CCCTGCGGTGGGCTTGGGCAG	0.597											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mna.2		NaN																	0				ovary(1)	1						c.(520-522)GCC>GCA		potassium inwardly-rectifying channel J11							68.0	55.0	60.0					11																	17409117		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409117G>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.522C>A	11.37:g.17409117G>T			OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_uc001mnb.3_Silent_p.A87A	p.A174A	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1090	-			174					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.522C>A	CCDS31436.1																																																																																				0.597	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1		NM_000525		17	21	1	0	3.62473e-10	0.012319	3.82685e-10	17	21		
ANO3	63982	broad.mit.edu	37	11	26655840	26655840	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:26655840T>C	ENST00000256737.3	+	19	2815	c.1963T>C	c.(1963-1965)Tat>Cat	p.Y655H	ANO3_ENST00000525139.1_Missense_Mutation_p.Y639H|ANO3_ENST00000537978.1_Missense_Mutation_p.Y639H|ANO3_ENST00000531568.1_Missense_Mutation_p.Y509H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	655					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCCATCTTCTATATCGCTTT	0.368																																						uc001mqt.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1963-1965)TAT>CAT		transmembrane protein 16C							104.0	91.0	95.0					11																	26655840		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26655840T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1963T>C	11.37:g.26655840T>C	ENSP00000256737:p.Tyr655His					ANO3_uc010rdr.1_Missense_Mutation_p.Y639H|ANO3_uc010rds.1_Missense_Mutation_p.Y494H|ANO3_uc010rdt.1_Missense_Mutation_p.Y509H	p.Y655H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			19	2108	+			655			Helical; (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1963T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027318	0.75390	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88583	0.3138	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	557;655	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	639;639;655;557;509	ENSP00000440737:Y639H;ENSP00000432576:Y639H;ENSP00000256737:Y655H;ENSP00000432394:Y509H	ENSP00000256737:Y655H	Y	+	1	0	ANO3	26612416	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1		NM_031418		10	11	0	0	0	0.008291	0	10	11		
RAG1	5896	broad.mit.edu	37	11	36595001	36595001	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:36595001G>A	ENST00000299440.5	+	2	259	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	49	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K49N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGGAAAAGAAGGATTCCT	0.438									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(145-147)AAG>AAA		recombination activating gene 1							53.0	59.0	57.0					11																	36595001		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595001G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.147G>A	11.37:g.36595001G>A						RAG1_uc001mwt.2_RNA	p.K49K	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	271	+	all_lung(20;0.226)	all_hematologic(20;0.107)	49			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.147G>A	CCDS7902.1																																																																																				0.438	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1		NM_000448		11	23	0	0	0	0.008291	0	11	23		
OR4C46	119749	broad.mit.edu	37	11	51515382	51515382	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:51515382T>G	ENST00000328188.1	+	1	101	c.101T>G	c.(100-102)aTc>aGc	p.I34S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTCATCTATATCATCACTGTG	0.433																																						uc010ric.1		NaN																	0				ovary(1)	1						c.(100-102)ATC>AGC		olfactory receptor, family 4, subfamily C,							219.0	206.0	210.0					11																	51515382		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515382T>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.101T>G	11.37:g.51515382T>G	ENSP00000329056:p.Ile34Ser						p.I34S	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	101	+			34			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.101T>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	9.467	1.094683	0.20471	.	.	ENSG00000185926	ENST00000328188	T	0.03181	4.02	2.63	1.46	0.22682	.	0.905488	0.09075	U	0.852172	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40757	-0.9546	10	0.59425	D	0.04	.	5.8978	0.18949	0.0:0.1424:0.0:0.8576	.	34	A6NHA9	O4C46_HUMAN	S	34	ENSP00000329056:I34S	ENSP00000329056:I34S	I	+	2	0	OR4C46	51371958	0.001000	0.12720	0.008000	0.14137	0.020000	0.10135	0.988000	0.29616	0.276000	0.22118	0.113000	0.15668	ATC		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1		NM_001004703		51	86	0	0	0	0.01441	0	51	86		
OR5D18	219438	broad.mit.edu	37	11	55587569	55587569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:55587569C>A	ENST00000333976.4	+	1	484	c.464C>A	c.(463-465)tCa>tAa	p.S155*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGGGAGTCTCATGTTCCTTG	0.478																																						uc010rin.1		NaN																	0				skin(2)|ovary(1)	3						c.(463-465)TCA>TAA		olfactory receptor, family 5, subfamily D,							196.0	184.0	188.0					11																	55587569		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587569C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.464C>A	11.37:g.55587569C>A	ENSP00000335025:p.Ser155*						p.S155*	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	464	+		all_epithelial(135;0.208)	155			Helical; Name=4; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.464C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	6.488	0.458262	0.12342	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	0.145	0.14829	.	1.121980	0.06919	N	0.809045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	1.0901	3.9922	0.09541	0.0:0.281:0.3498:0.3692	.	.	.	.	X	155	.	ENSP00000335025:S155X	S	+	2	0	OR5D18	55344145	0.003000	0.15002	0.001000	0.08648	0.062000	0.15995	0.000000	0.12993	0.224000	0.20940	0.567000	0.79289	TCA		0.478	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		42	70	1	0	3.50607e-19	0.01441	3.80047e-19	42	70		
FAM111B	374393	broad.mit.edu	37	11	58893255	58893255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:58893255G>A	ENST00000343597.3	+	4	1876	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	FAM111B_ENST00000411426.1_Nonsense_Mutation_p.W532*|FAM111B_ENST00000529618.1_Nonsense_Mutation_p.W532*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	562							catalytic activity (GO:0003824)	p.W562*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCAGGACTATGGCGACAGATT	0.373																																						uc001nnl.2		NaN																	1	Substitution - Nonsense(1)	p.W562*(1)	ovary(1)	ovary(2)	2						c.(1684-1686)TGG>TAG		hypothetical protein LOC374393 isoform a							111.0	103.0	106.0					11																	58893255		2201	4295	6496	SO:0001587	stop_gained	374393						catalytic activity	g.chr11:58893255G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1685G>A	11.37:g.58893255G>A	ENSP00000341565:p.Trp562*					FAM111B_uc001nnm.2_Nonsense_Mutation_p.W532*|FAM111B_uc010rko.1_Nonsense_Mutation_p.W532*	p.W562*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1928	+			562					B4E2G2|Q6P661	Nonsense_Mutation	SNP	ENST00000343597.3	37	c.1685G>A	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964519	0.53507	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	.	.	.	4.48	-6.86	0.01676	.	0.999489	0.08096	N	0.998554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	2.7921	0.05391	0.541:0.0799:0.12:0.259	.	.	.	.	X	532;532;562	.	ENSP00000341565:W562X	W	+	2	0	FAM111B	58649831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.114000	0.03293	-1.400000	0.02061	-0.262000	0.10625	TGG		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1		NM_198947		14	37	0	0	0	0.020292	0	14	37		
CD6	923	broad.mit.edu	37	11	60777201	60777201	+	Silent	SNP	G	G	A	rs371204521		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:60777201G>A	ENST00000313421.7	+	5	1125	c.939G>A	c.(937-939)gaG>gaA	p.E313E	CD6_ENST00000352009.5_Silent_p.E313E|CD6_ENST00000452451.2_Silent_p.E313E|CD6_ENST00000344028.5_Silent_p.E313E|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.E313E	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	313	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTGCGGTTGAGAGGCCCAAGG	0.592																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NaN																	0				pancreas(1)	1						c.(937-939)GAG>GAA		CD6 molecule precursor		G		0,4406		0,0,2203	80.0	69.0	73.0		939	-7.7	0.0	11		73	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CD6	NM_006725.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		313/669	60777201	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777201G>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.939G>A	11.37:g.60777201G>A						CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Silent_p.E313E|CD6_uc001nqr.2_Silent_p.E313E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.E313E	p.E313E	NM_006725	NP_006716	P30203	CD6_HUMAN			5	1162	+			313			SRCR 3.|Extracellular (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.939G>A	CCDS7999.1																																																																																				0.592	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1		NM_006725		29	54	0	0	0	0.013726	0	29	54		
DPP3	10072	broad.mit.edu	37	11	66262701	66262701	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66262701G>A	ENST00000360510.2	+	13	1479	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	DPP3_ENST00000532677.1_Missense_Mutation_p.D491N|DPP3_ENST00000453114.1_Missense_Mutation_p.D472N|DPP3_ENST00000530165.1_Missense_Mutation_p.D442N|DPP3_ENST00000541961.1_Missense_Mutation_p.D472N|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.D492N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	472					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTCAACTTTGACCAGGAAAC	0.627																																						uc001oig.1		NaN																	0				ovary(1)|skin(1)	2						c.(1414-1416)GAC>AAC		dipeptidyl peptidase III							83.0	84.0	83.0					11																	66262701		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66262701G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1414G>A	11.37:g.66262701G>A	ENSP00000353701:p.Asp472Asn					DPP3_uc001oif.1_Missense_Mutation_p.D472N|DPP3_uc010rpe.1_Missense_Mutation_p.D461N|DPP3_uc001oih.1_5'Flank	p.D472N	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			13	1476	+			472					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1414G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339793	0.81911	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.86	5.86	0.93980	.	0.043596	0.85682	D	0.000000	T	0.52964	0.1767	M	0.84846	2.72	0.54753	D	0.999984	P;P	0.41673	0.515;0.759	P;P	0.45099	0.469;0.453	T	0.58312	-0.7658	10	0.56958	D	0.05	.	17.6719	0.88221	0.0:0.0:1.0:0.0	.	491;472	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	492;491;472;472;472;442;370	ENSP00000432782:D492N;ENSP00000435284:D491N;ENSP00000353701:D472N;ENSP00000389943:D472N;ENSP00000440502:D472N;ENSP00000436941:D442N	ENSP00000353701:D472N	D	+	1	0	DPP3	66019277	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.103000	0.57783	2.778000	0.95560	0.591000	0.81541	GAC		0.627	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2				52	80	0	0	0	0.01441	0	52	80		
BBS1	582	broad.mit.edu	37	11	66288833	66288833	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66288833C>G	ENST00000318312.7	+	9	867	c.816C>G	c.(814-816)atC>atG	p.I272M	BBS1_ENST00000455748.2_Missense_Mutation_p.I175M|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000537537.1_Missense_Mutation_p.I160M|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.I309M|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	272					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ATGGAAACATCTATATTCTGA	0.552									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	0				ovary(1)	1						c.(814-816)ATC>ATG		Bardet-Biedl syndrome 1							52.0	51.0	51.0					11																	66288833		2200	4295	6495	SO:0001583	missense	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66288833C>G	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.816C>G	11.37:g.66288833C>G	ENSP00000317469:p.Ile272Met					BBS1_uc001oii.1_Missense_Mutation_p.I309M|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.I175M|BBS1_uc001oik.1_Missense_Mutation_p.I196M|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	p.I272M	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			9	828	+			272					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.816C>G	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907638	0.52333	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000537537;ENST00000525809;ENST00000455748	T;T;D;D;T	0.92965	0.04;0.04;-3.14;-3.14;0.04	5.72	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	D	0.90259	0.6954	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.40230	0.708;0.644;0.644;0.459	B;B;B;B	0.35931	0.156;0.192;0.214;0.151	D	0.90150	0.4220	9	0.66056	D	0.02	.	12.9544	0.58418	0.0:0.6885:0.3115:0.0	.	175;160;272;309	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	M	309;272;160;181;175	ENSP00000398526:I309M;ENSP00000317469:I272M;ENSP00000439873:I160M;ENSP00000431187:I181M;ENSP00000405764:I175M	ENSP00000317469:I272M	I	+	3	3	BBS1;CTD-3074O7.11	66045409	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	3.016000	0.49607	1.374000	0.46228	0.650000	0.86243	ATC		0.552	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2				16	25	0	0	0	0.007413	0	16	25		
PITPNM1	9600	broad.mit.edu	37	11	67262389	67262389	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:67262389C>A	ENST00000534749.1	-	17	2858	c.2670G>T	c.(2668-2670)gaG>gaT	p.E890D	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.E889D|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E890D			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	890					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGACGGCTCCTCGCATTCCG	0.692																																					GBM(28;144 709 4607 5525)	uc001olx.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(2668-2670)GAG>GAT		phosphatidylinositol transfer protein,							98.0	89.0	92.0					11																	67262389		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262389C>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2670G>T	11.37:g.67262389C>A	ENSP00000437286:p.Glu890Asp					PITPNM1_uc001olw.2_Missense_Mutation_p.E172D|PITPNM1_uc001oly.2_Missense_Mutation_p.E890D|PITPNM1_uc001olz.2_Missense_Mutation_p.E889D	p.E890D	NM_004910	NP_004901	O00562	PITM1_HUMAN			17	2859	-			890					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2670G>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018348	0.07681	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.43688	0.94;0.96;0.94	4.32	2.27	0.28462	.	0.348665	0.21247	N	0.077714	T	0.16938	0.0407	N	0.03967	-0.31	0.38168	D	0.939246	B;B	0.27068	0.167;0.084	B;B	0.27796	0.083;0.028	T	0.07366	-1.0776	10	0.21014	T	0.42	-23.8781	6.5726	0.22547	0.0:0.7142:0.1826:0.1031	.	889;890	O00562-2;O00562	.;PITM1_HUMAN	D	890;889;890	ENSP00000437286:E890D;ENSP00000398787:E889D;ENSP00000348772:E890D	ENSP00000348772:E890D	E	-	3	2	PITPNM1	67018965	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	1.471000	0.35365	0.956000	0.37904	0.491000	0.48974	GAG		0.692	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910		84	130	1	0	1.21526e-53	0.01441	1.37504e-53	84	130		
LRP5	4041	broad.mit.edu	37	11	68174203	68174203	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:68174203C>T	ENST00000294304.7	+	9	2119	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	671	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCCCGCTCACGGGCGTCA	0.587																																						uc001ont.2		NaN																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2011-2013)CTC>CTT		low density lipoprotein receptor-related protein							56.0	49.0	52.0					11																	68174203		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68174203C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2013C>T	11.37:g.68174203C>T						LRP5_uc009ysg.2_Silent_p.L81L	p.L671L	NM_002335	NP_002326	O75197	LRP5_HUMAN			9	2088	+			671			Beta-propeller 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2013C>T	CCDS8181.1																																																																																				0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1		NM_002335		10	29	0	0	0	0.008291	0	10	29		
ANO1	55107	broad.mit.edu	37	11	70028637	70028637	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:70028637C>T	ENST00000355303.5	+	24	2738	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ANO1_ENST00000538023.1_Silent_p.F811F|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000530676.1_Silent_p.F665F|ANO1_ENST00000531349.1_Silent_p.F520F|ANO1_ENST00000398543.2_Silent_p.F665F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	811					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CGTCTGACTTCATCCCGCGCC	0.612																																						uc001opj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2431-2433)TTC>TTT		anoctamin 1, calcium activated chloride channel							75.0	80.0	78.0					11																	70028637		2075	4204	6279	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70028637C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2433C>T	11.37:g.70028637C>T						ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.F520F|ANO1_uc010rql.1_5'UTR	p.F811F	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			24	2738	+			811			Helical; (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2433C>T	CCDS44663.1																																																																																				0.612	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1		NM_018043		22	42	0	0	0	0.00632	0	22	42		
RSF1	51773	broad.mit.edu	37	11	77411897	77411897	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:77411897C>T	ENST00000308488.6	-	6	2679	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	RSF1_ENST00000360355.2_Missense_Mutation_p.D762N|RSF1_ENST00000480887.1_Missense_Mutation_p.D541N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	793					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTTTCTGATCTCTGATCTCA	0.383																																						uc001oyn.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(2377-2379)GAT>AAT		remodeling and spacing factor 1							144.0	144.0	144.0					11																	77411897		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77411897C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2377G>A	11.37:g.77411897C>T	ENSP00000311513:p.Asp793Asn					RSF1_uc001oym.2_Missense_Mutation_p.D541N	p.D793N	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2497	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		793					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.2377G>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125166	0.77436	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	D;D;D;D	0.87103	-2.18;-2.17;-2.2;-2.21	5.83	5.83	0.93111	.	0.122832	0.36628	N	0.002482	D	0.90079	0.6901	L	0.34521	1.04	0.58432	D	0.999994	D	0.71674	0.998	D	0.64595	0.927	D	0.90186	0.4246	10	0.56958	D	0.05	-9.5046	19.7442	0.96245	0.0:1.0:0.0:0.0	.	793	Q96T23	RSF1_HUMAN	N	793;541;762;594	ENSP00000311513:D793N;ENSP00000434509:D541N;ENSP00000353511:D762N;ENSP00000432022:D594N	ENSP00000311513:D793N	D	-	1	0	RSF1	77089545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.153000	0.77428	2.770000	0.95276	0.655000	0.94253	GAT		0.383	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2		NM_016578		18	27	0	0	0	0.008871	0	18	27		
JRKL	8690	broad.mit.edu	37	11	96124087	96124087	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:96124087G>C	ENST00000332349.4	+	2	521	c.274G>C	c.(274-276)Gca>Cca	p.A92P	JRKL_ENST00000458427.1_Missense_Mutation_p.A92P|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	92	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCAGCAAAGAGCAAAAGGGAA	0.443																																						uc009ywu.2		NaN																	0					0						c.(274-276)GCA>CCA		jerky homolog-like							93.0	93.0	93.0					11																	96124087		2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96124087G>C	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.274G>C	11.37:g.96124087G>C	ENSP00000333350:p.Ala92Pro					CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.A92P	p.A92P	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	2	526	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	92			HTH CENPB-type.		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.274G>C	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448713	0.63178	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.26067	1.76;1.76	4.65	3.73	0.42828	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.39475	N	0.001346	T	0.41743	0.1172	M	0.69823	2.125	0.36173	D	0.848885	D	0.64830	0.994	P	0.60541	0.876	T	0.49634	-0.8919	10	0.38643	T	0.18	-14.0209	8.8447	0.35164	0.1064:0.0:0.8936:0.0	.	92	Q9Y4A0	JERKL_HUMAN	P	92	ENSP00000333350:A92P;ENSP00000389989:A92P	ENSP00000333350:A92P	A	+	1	0	JRKL	95763735	1.000000	0.71417	0.821000	0.32701	0.994000	0.84299	4.867000	0.63013	0.956000	0.37904	0.407000	0.27541	GCA		0.443	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2		NM_003772		46	17	0	0	0	0.01441	0	46	17		
IL10RA	3587	broad.mit.edu	37	11	117866303	117866303	+	Splice_Site	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:117866303G>T	ENST00000227752.3	+	6	808		c.e6-1		IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha						cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGGGCCTGCAGATTTCACCGT	0.577																																						uc001prv.2		NaN																	0				ovary(1)	1						c.e6-1		interleukin 10 receptor, alpha precursor							180.0	149.0	160.0					11																	117866303		2200	4296	6496	SO:0001630	splice_region_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117866303G>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.689-1G>T	11.37:g.117866303G>T						IL10RA_uc010rxl.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxm.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxn.1_Splice_Site_p.Y81_splice|IL10RA_uc001prw.2_Splice_Site_p.Y81_splice	p.Y230_splice	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	6	766	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						A8K6I0|B0YJ27	Splice_Site	SNP	ENST00000227752.3	37	c.689_splice	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681678	0.47991	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5002	0.67716	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL10RA	117371513	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.423000	0.59861	2.574000	0.86865	0.563000	0.77884	.		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			Intron	94	24	1	0	9.50027e-55	0.01441	1.07923e-54	94	24		
KMT2A	4297	broad.mit.edu	37	11	118355688	118355688	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:118355688G>C	ENST00000389506.5	+	10	4330	c.4330G>C	c.(4330-4332)Gag>Cag	p.E1444Q	KMT2A_ENST00000354520.4_Intron|KMT2A_ENST00000534358.1_Missense_Mutation_p.E1444Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1444		Breakpoint for translocation to form KMT2A-GAS7 oncogene.|Breakpoint for translocation to form KMT2A-LPP.			anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGGGCATGTAGAGGTAAGGCA	0.423																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4330-4332)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia							142.0	115.0	124.0					11																	118355688		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118355688G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4330G>C	11.37:g.118355688G>C	ENSP00000374157:p.Glu1444Gln					MLL_uc001ptb.2_Missense_Mutation_p.E1444Q|MLL_uc001pte.1_Intron	p.E1444Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	10	4353	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1444			PHD-type 1.	Breakpoint for translocation to form MLL- LPP.|Breakpoint for translocation to form MLL- GAS7 oncogene.	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4330G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162889	0.78226	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000359313	T;T	0.64618	-0.11;-0.11	5.58	5.58	0.84498	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.78831	-0.2049	10	0.62326	D	0.03	.	19.5746	0.95436	0.0:0.0:1.0:0.0	.	1444;1444	E9PQG7;Q03164	.;MLL1_HUMAN	Q	1444;1444;354	ENSP00000436786:E1444Q;ENSP00000374157:E1444Q	ENSP00000352262:E354Q	E	+	1	0	MLL	117860898	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.414000	0.97362	2.638000	0.89438	0.655000	0.94253	GAG		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		12	21	0	0	0	0.010729	0	12	21		
OR8A1	390275	broad.mit.edu	37	11	124440079	124440079	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:124440079G>A	ENST00000284287.3	+	1	187	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	39					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAAGAGAGCAGACCTCCAGCT	0.527																																						uc010san.1		NaN																	0				ovary(1)	1						c.(115-117)GAC>AAC		olfactory receptor, family 8, subfamily A,							100.0	92.0	95.0					11																	124440079		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440079G>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.115G>A	11.37:g.124440079G>A	ENSP00000284287:p.Asp39Asn						p.D39N	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	115	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	39			Extracellular (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.115G>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021906	0.54576	.	.	ENSG00000196119	ENST00000284287	T	0.00174	8.62	5.08	5.08	0.68730	.	0.306550	0.23032	N	0.052725	T	0.00178	0.0005	N	0.20574	0.59	0.30814	N	0.738527	B	0.26845	0.161	B	0.25759	0.063	T	0.61686	-0.7012	10	0.66056	D	0.02	.	18.2469	0.89989	0.0:0.0:1.0:0.0	.	39	Q8NGG7	OR8A1_HUMAN	N	39	ENSP00000284287:D39N	ENSP00000284287:D39N	D	+	1	0	OR8A1	123945289	0.002000	0.14202	0.951000	0.38953	0.394000	0.30568	0.731000	0.26058	2.636000	0.89361	0.585000	0.79938	GAC		0.527	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1		NM_001005194		15	28	0	0	0	0.006122	0	15	28		
ARHGAP32	9743	broad.mit.edu	37	11	128844063	128844063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:128844063G>C	ENST00000310343.9	-	20	2986	c.2987C>G	c.(2986-2988)tCa>tGa	p.S996*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.S647*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.S922*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.S647*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	996					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGACTGCTTGAGACAGACTG	0.473																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(2986-2988)TCA>TGA		Rho GTPase-activating protein isoform 1							116.0	119.0	118.0					11																	128844063		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844063G>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2987C>G	11.37:g.128844063G>C	ENSP00000310561:p.Ser996*					ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.S956*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.S647*	p.S996*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			20	2987	-			996					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.2987C>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.855816	0.97030	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	.	.	.	5.56	2.51	0.30379	.	0.925406	0.09306	N	0.820295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	8.9329	0.35682	0.2497:0.0:0.7503:0.0	.	.	.	.	X	996;647;922;930;647	.	ENSP00000310561:S996X	S	-	2	0	ARHGAP32	128349273	0.015000	0.18098	0.000000	0.03702	0.991000	0.79684	2.021000	0.41020	0.313000	0.23062	0.655000	0.94253	TCA		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		21	43	0	0	0	0.010504	0	21	43		
SPATA19	219938	broad.mit.edu	37	11	133715054	133715054	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:133715054G>C	ENST00000299140.3	-	2	164	c.110C>G	c.(109-111)tCt>tGt	p.S37C	SPATA19_ENST00000532889.1_Missense_Mutation_p.S37C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATGTAGTACAGACACAGCCTC	0.458																																						uc001qgv.1		NaN																	0					0						c.(109-111)TCT>TGT		spermatogenesis associated 19 precursor							163.0	151.0	155.0					11																	133715054		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715054G>C	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.110C>G	11.37:g.133715054G>C	ENSP00000299140:p.Ser37Cys						p.S37C	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	161	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	37					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.110C>G	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637064	0.67130	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.56776	0.44;0.44	5.33	4.38	0.52667	.	0.372460	0.23405	N	0.048525	T	0.57169	0.2035	L	0.32530	0.975	0.32183	N	0.580147	D	0.71674	0.998	P	0.61477	0.889	T	0.66590	-0.5885	10	0.87932	D	0	-22.0011	11.0863	0.48089	0.0:0.0:0.8147:0.1853	.	37	Q7Z5L4	SPT19_HUMAN	C	37	ENSP00000299140:S37C;ENSP00000435248:S37C	ENSP00000299140:S37C	S	-	2	0	SPATA19	133220264	0.960000	0.32886	0.963000	0.40424	0.984000	0.73092	2.262000	0.43285	1.186000	0.42985	0.563000	0.77884	TCT		0.458	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1		NM_174927		34	60	0	0	0	0.011902	0	34	60		
A2M	2	broad.mit.edu	37	12	9248286	9248286	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:9248286A>G	ENST00000318602.7	-	16	2169	c.1862T>C	c.(1861-1863)cTg>cCg	p.L621P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	621					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCTGGTAGCAGGTTGTAAAC	0.368																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(1861-1863)CTG>CCG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						88.0	83.0	85.0					12																	9248286		1832	4085	5917	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9248286A>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1862T>C	12.37:g.9248286A>G	ENSP00000323929:p.Leu621Pro					A2M_uc009zgk.1_Missense_Mutation_p.L471P	p.L621P	NM_000014	NP_000005	P01023	A2MG_HUMAN			16	1975	-			621					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1862T>C	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	6.465	0.453985	0.12283	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.32023	1.47	5.65	5.65	0.86999	.	0.000000	0.50627	D	0.000106	T	0.62134	0.2403	M	0.88105	2.93	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.69975	-0.4999	10	0.87932	D	0	.	14.9885	0.71368	1.0:0.0:0.0:0.0	.	621	P01023	A2MG_HUMAN	P	621;636	ENSP00000323929:L621P	ENSP00000323929:L621P	L	-	2	0	A2M	9139553	1.000000	0.71417	0.852000	0.33557	0.094000	0.18550	4.183000	0.58317	2.276000	0.75962	0.528000	0.53228	CTG		0.368	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		12	58	0	0	0	0.007413	0	12	58		
PTPRO	5800	broad.mit.edu	37	12	15677896	15677896	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:15677896G>C	ENST00000281171.4	+	11	2370	c.2040G>C	c.(2038-2040)aaG>aaC	p.K680N	PTPRO_ENST00000348962.2_Missense_Mutation_p.K680N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	680	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAATTAAAAAGAGTGTATGTT	0.343																																						uc001rcv.1		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2038-2040)AAG>AAC		receptor-type protein tyrosine phosphatase O							66.0	68.0	67.0					12																	15677896		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15677896G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2040G>C	12.37:g.15677896G>C	ENSP00000281171:p.Lys680Asn					PTPRO_uc001rcw.1_Missense_Mutation_p.K680N	p.K680N	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			11	2214	+		Hepatocellular(102;0.244)	680			Fibronectin type-III 7.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2040G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091224	0.55968	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;D	0.85339	3.8;-1.97	4.45	4.45	0.53987	Fibronectin, type III (2);	0.000000	0.49305	D	0.000141	T	0.77772	0.4180	N	0.19112	0.55	0.80722	D	1	P;P	0.47910	0.902;0.842	B;B	0.43301	0.415;0.236	T	0.77619	-0.2520	10	0.28530	T	0.3	.	17.644	0.88144	0.0:0.0:1.0:0.0	.	680;680	Q16827-2;Q16827	.;PTPRO_HUMAN	N	680	ENSP00000281171:K680N;ENSP00000343434:K680N	ENSP00000281171:K680N	K	+	3	2	PTPRO	15569163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.973000	0.70456	2.452000	0.82932	0.591000	0.81541	AAG		0.343	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1				10	31	0	0	0	0.010729	0	10	31		
PDE3A	5139	broad.mit.edu	37	12	20766459	20766459	+	Missense_Mutation	SNP	C	C	G	rs199757276		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:20766459C>G	ENST00000359062.3	+	3	1134	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	365				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). {ECO:0000305}.	blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCAGACCCTTCTCTTCCACCA	0.557																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1093-1095)TCT>TGT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						109.0	99.0	102.0					12																	20766459		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766459C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1094C>G	12.37:g.20766459C>G	ENSP00000351957:p.Ser365Cys						p.S365C	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1116	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	365	HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).				O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1094C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949668	0.92660	.	.	ENSG00000172572	ENST00000359062	T	0.51817	0.69	5.86	5.86	0.93980	.	.	.	.	.	T	0.68568	0.3015	M	0.69358	2.11	0.58432	D	0.999998	D	0.89917	1.0	D	0.66847	0.947	T	0.67593	-0.5631	9	0.62326	D	0.03	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	365	Q14432	PDE3A_HUMAN	C	365	ENSP00000351957:S365C	ENSP00000351957:S365C	S	+	2	0	PDE3A	20657726	0.999000	0.42202	0.999000	0.59377	0.967000	0.64934	4.239000	0.58694	2.937000	0.99478	0.650000	0.86243	TCT		0.557	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				60	45	0	0	0	0.01441	0	60	45		
ABCC9	10060	broad.mit.edu	37	12	22059097	22059097	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:22059097A>G	ENST00000261201.4	-	10	1580	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	ABCC9_ENST00000345162.2_Silent_p.S527S|ABCC9_ENST00000261200.4_Silent_p.S527S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	527	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTTGAGACTAGATAGTTCTT	0.368																																						uc001rfi.1		NaN																	0				ovary(4)|skin(2)	6						c.(1579-1581)TCT>TCC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						197.0	173.0	181.0					12																	22059097		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22059097A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1581T>C	12.37:g.22059097A>G						ABCC9_uc001rfh.2_Silent_p.S527S|ABCC9_uc001rfj.1_Silent_p.S527S	p.S527S	NM_005691	NP_005682	O60706	ABCC9_HUMAN			10	1601	-			527			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.1581T>C	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		18	45	0	0	0	0.027356	0	18	45		
NCKAP5L	57701	broad.mit.edu	37	12	50189001	50189001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:50189001G>C	ENST00000335999.6	-	8	2843	c.2642C>G	c.(2641-2643)tCa>tGa	p.S881*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	877										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCGATGGCTGAGTGTGGGGC	0.662																																						uc009zlk.2		NaN																	0				central_nervous_system(1)	1						c.(2641-2643)TCA>TGA		NCK-associated protein 5-like							51.0	57.0	55.0					12																	50189001		2015	4178	6193	SO:0001587	stop_gained	57701							g.chr12:50189001G>C	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2642C>G	12.37:g.50189001G>C	ENSP00000337998:p.Ser881*					NCKAP5L_uc001rvc.3_Nonsense_Mutation_p.S85*|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S474*	p.S881*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2844	-			877					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Nonsense_Mutation	SNP	ENST00000335999.6	37	c.2642C>G	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	41	8.711099	0.98925	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	5.12	5.12	0.69794	.	0.000000	0.37095	N	0.002258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.995	11.9484	0.52940	0.0853:0.0:0.9147:0.0	.	.	.	.	X	881;855	.	ENSP00000337998:S881X	S	-	2	0	NCKAP5L	48475268	1.000000	0.71417	0.977000	0.42913	0.956000	0.61745	8.915000	0.92740	2.548000	0.85928	0.462000	0.41574	TCA		0.662	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		XM_035497		94	72	0	0	0	0.01441	0	94	72		
BIN2	51411	broad.mit.edu	37	12	51707619	51707619	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:51707619G>A	ENST00000267012.4	-	2	211	c.150C>T	c.(148-150)ttC>ttT	p.F50F	BIN2_ENST00000452142.2_Silent_p.F50F|BIN2_ENST00000544402.1_Silent_p.F24F|BIN2_ENST00000604560.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	50	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTTGTTGGTAGAAGTTGCTAG	0.468																																						uc001ryg.2		NaN																	0				ovary(1)	1						c.(148-150)TTC>TTT		bridging integrator 2							177.0	144.0	155.0					12																	51707619		2203	4300	6503	SO:0001819	synonymous_variant	51411					cytoplasm	protein binding	g.chr12:51707619G>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.150C>T	12.37:g.51707619G>A						BIN2_uc009zlz.2_Silent_p.F50F|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Silent_p.F24F	p.F50F	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			2	202	-			50			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	c.150C>T	CCDS8811.1																																																																																				0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1				34	43	0	0	0	0.027894	0	34	43		
KRT79	338785	broad.mit.edu	37	12	53215788	53215788	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:53215788C>G	ENST00000330553.5	-	9	1510	c.1476G>C	c.(1474-1476)ggG>ggC	p.G492G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	492	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.G492G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCCCACTCCCACCCAGGG	0.612																																						uc001sbb.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1474-1476)GGG>GGC		keratin 6L							51.0	44.0	46.0					12																	53215788		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53215788C>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1476G>C	12.37:g.53215788C>G						KRT79_uc001sba.2_Silent_p.G263G	p.G492G	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			9	1509	-			492			Tail.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.1476G>C	CCDS8839.1																																																																																				0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		39	55	0	0	0	0.009718	0	39	55		
GLI1	2735	broad.mit.edu	37	12	57861869	57861869	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:57861869C>T	ENST00000228682.2	+	10	1261	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	GLI1_ENST00000543426.1_Silent_p.D262D|GLI1_ENST00000546141.1_Silent_p.D349D	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	390					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ATGGTCCTGACGCCCATGTGA	0.572																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1168-1170)GAC>GAT		GLI family zinc finger 1 isoform 1							93.0	71.0	79.0					12																	57861869		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861869C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1170C>T	12.37:g.57861869C>T						GLI1_uc009zpq.2_Silent_p.D262D	p.D390D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1248	+			390					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.1170C>T	CCDS8940.1																																																																																				0.572	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		23	67	0	0	0	0.027356	0	23	67		
LRRIQ1	84125	broad.mit.edu	37	12	85450509	85450509	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:85450509A>G	ENST00000393217.2	+	8	1999	c.1938A>G	c.(1936-1938)ccA>ccG	p.P646P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	646										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGGAGAACCCAAAAGACAATG	0.308																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1936-1938)CCA>CCG		leucine-rich repeats and IQ motif containing 1							62.0	64.0	63.0					12																	85450509		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85450509A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1938A>G	12.37:g.85450509A>G						LRRIQ1_uc001tab.1_Silent_p.P646P|LRRIQ1_uc001taa.1_Silent_p.P621P	p.P646P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2049	+			646					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1938A>G	CCDS41816.1																																																																																				0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		6	13	0	0	0	0.021553	0	6	13		
C12orf42	374470	broad.mit.edu	37	12	103699968	103699968	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:103699968C>T	ENST00000378113.2	-	5	640	c.415G>A	c.(415-417)Gag>Aag	p.E139K	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_Missense_Mutation_p.E72K|C12orf42_ENST00000548883.1_Missense_Mutation_p.E139K	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	139										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATGGGGCCTCATCAGTTTCA	0.463																																						uc001tjt.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(415-417)GAG>AAG		hypothetical protein LOC374470							74.0	76.0	75.0					12																	103699968		1859	4108	5967	SO:0001583	missense	374470							g.chr12:103699968C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.415G>A	12.37:g.103699968C>T	ENSP00000367353:p.Glu139Lys					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E139K|C12orf42_uc001tju.2_Missense_Mutation_p.E44K	p.E139K	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			5	503	-			139					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.415G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093132	0.36952	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.34	1.56	0.23342	.	0.623523	0.13279	N	0.399857	T	0.31009	0.0783	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.40101	0.319	T	0.12041	-1.0563	10	0.59425	D	0.04	-2.4197	6.097	0.20025	0.0:0.6868:0.0:0.3132	.	139	Q96LP6	CL042_HUMAN	K	139;72;139;139	ENSP00000447908:E139K;ENSP00000449362:E72K;ENSP00000367353:E139K;ENSP00000447795:E139K	ENSP00000367353:E139K	E	-	1	0	C12orf42	102224098	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.101000	0.15251	0.372000	0.24591	0.549000	0.68633	GAG		0.463	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1		NM_198521		17	14	0	0	0	0.010504	0	17	14		
TBX5	6910	broad.mit.edu	37	12	114832653	114832653	+	Missense_Mutation	SNP	C	C	T	rs557183241		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:114832653C>T	ENST00000310346.4	-	6	1222	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TBX5_ENST00000405440.2_Missense_Mutation_p.V186M|TBX5_ENST00000349716.5_Missense_Mutation_p.V136M|TBX5_ENST00000552726.1_5'Flank|TBX5_ENST00000526441.1_Missense_Mutation_p.V186M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	186					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCGCTTTCACGATGTGTAAT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18011	0.0		0.0	False		,,,				2504	0.0				NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(556-558)GTG>ATG		T-box 5 isoform 1							208.0	213.0	212.0					12																	114832653		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832653C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.556G>A	12.37:g.114832653C>T	ENSP00000309913:p.Val186Met					TBX5_uc001tvp.2_Missense_Mutation_p.V186M|TBX5_uc001tvq.2_Missense_Mutation_p.V136M|TBX5_uc010syv.1_Missense_Mutation_p.V186M	p.V186M	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1051	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		186			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.556G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578652	0.86645	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.95464	0.8545	10	0.72032	D	0.01	.	19.8996	0.96980	0.0:1.0:0.0:0.0	.	186;186	Q99593-2;Q99593	.;TBX5_HUMAN	M	136;186;83;186;186	ENSP00000337723:V136M;ENSP00000309913:V186M;ENSP00000384152:V186M;ENSP00000433292:V186M	ENSP00000309913:V186M	V	-	1	0	TBX5	113317036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GTG		0.363	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		109	101	0	0	0	0.01441	0	109	101		
DNAH10	196385	broad.mit.edu	37	12	124345628	124345628	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:124345628C>T	ENST00000409039.3	+	38	6490	c.6465C>T	c.(6463-6465)atC>atT	p.I2155I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2155	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTACGGCATCCTGGACCCAA	0.488																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6463-6465)ATC>ATT		dynein, axonemal, heavy chain 10							74.0	73.0	73.0					12																	124345628		1893	4126	6019	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124345628C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6465C>T	12.37:g.124345628C>T							p.I2155I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	38	6490	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2155			AAA 2 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.6465C>T	CCDS9255.2																																																																																				0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				31	36	0	0	0	0.015359	0	31	36		
PIWIL1	9271	broad.mit.edu	37	12	130834457	130834457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:130834457G>A	ENST00000245255.3	+	9	1261	c.989G>A	c.(988-990)aGc>aAc	p.S330N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	330	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AATCCCAAGAGCACCTTTAAG	0.408																																						uc001uik.2		NaN																	0				ovary(2)	2						c.(988-990)AGC>AAC		piwi-like 1							95.0	95.0	95.0					12																	130834457		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130834457G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.989G>A	12.37:g.130834457G>A	ENSP00000245255:p.Ser330Asn					PIWIL1_uc001uij.1_Missense_Mutation_p.S330N	p.S330N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	9	1079	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		330			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.989G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360517	0.11296	.	.	ENSG00000125207	ENST00000245255	T	0.13538	2.58	5.57	5.57	0.84162	Argonaute/Dicer protein, PAZ (4);	0.178361	0.64402	D	0.000011	T	0.11110	0.0271	L	0.41573	1.285	0.37350	D	0.910755	B;B	0.06786	0.001;0.0	B;B	0.16289	0.015;0.005	T	0.06643	-1.0815	10	0.05436	T	0.98	-22.7442	14.1758	0.65539	0.0:0.1495:0.8505:0.0	.	330;330	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	330	ENSP00000245255:S330N	ENSP00000245255:S330N	S	+	2	0	PIWIL1	129400410	0.983000	0.35010	0.998000	0.56505	0.359000	0.29487	2.777000	0.47717	2.608000	0.88229	0.563000	0.77884	AGC		0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1				14	46	0	0	0	0.00499	0	14	46		
FLT3	2322	broad.mit.edu	37	13	28597565	28597565	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:28597565C>G	ENST00000241453.7	-	19	2421	c.2340G>C	c.(2338-2340)ttG>ttC	p.L780F	FLT3_ENST00000380982.4_Missense_Mutation_p.L780F|FLT3_ENST00000537084.1_Missense_Mutation_p.L780F	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCACATTCAAGTCCTCCT	0.353			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NaN		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2338-2340)TTG>TTC		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						149.0	135.0	140.0					13																	28597565		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28597565C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2340G>C	13.37:g.28597565C>G	ENSP00000241453:p.Leu780Phe					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L780F	p.L780F	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	19	2422	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	780			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2340G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	9.605	1.129688	0.21041	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.82893	-1.66;-1.66;-1.66	5.28	2.3	0.28687	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.104523	0.41605	D	0.000858	T	0.63768	0.2539	N	0.17764	0.52	0.40395	D	0.979587	B;B	0.14805	0.011;0.005	B;B	0.17433	0.018;0.012	T	0.48305	-0.9047	10	0.10111	T	0.7	.	4.3448	0.11127	0.2828:0.4912:0.1473:0.0787	.	780;780	P36888-2;P36888	.;FLT3_HUMAN	F	780	ENSP00000241453:L780F;ENSP00000370369:L780F;ENSP00000438139:L780F	ENSP00000241453:L780F	L	-	3	2	FLT3	27495565	0.351000	0.24887	0.924000	0.36721	0.969000	0.65631	-0.042000	0.12063	0.716000	0.32124	0.655000	0.94253	TTG		0.353	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2				7	25	0	0	0	0.00308	0	7	25		
FRY	10129	broad.mit.edu	37	13	32783164	32783164	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:32783164C>G	ENST00000380250.3	+	32	4689	c.4193C>G	c.(4192-4194)tCt>tGt	p.S1398C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1398						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGACTGCTTCTCACGGGCTG	0.592																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(4192-4194)TCT>TGT		furry homolog							62.0	67.0	65.0					13																	32783164		1986	4161	6147	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783164C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4193C>G	13.37:g.32783164C>G	ENSP00000369600:p.Ser1398Cys					FRY_uc010tdw.1_RNA	p.S1398C	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	32	4689	+		Lung SC(185;0.0271)	1398					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4193C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345614	0.24426	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24723	1.84	5.18	4.26	0.50523	.	0.325634	0.33610	N	0.004732	T	0.27419	0.0673	L	0.44542	1.39	0.20307	N	0.999915	B	0.23591	0.088	B	0.37304	0.246	T	0.27905	-1.0060	10	0.51188	T	0.08	.	9.4562	0.38756	0.0:0.7398:0.184:0.0763	.	1398	Q5TBA9	FRY_HUMAN	C	1398;235	ENSP00000369600:S1398C	ENSP00000369600:S1398C	S	+	2	0	FRY	31681164	0.003000	0.15002	0.248000	0.24265	0.553000	0.35397	1.941000	0.40233	1.135000	0.42183	0.484000	0.47621	TCT		0.592	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		38	91	0	0	0	0.027894	0	38	91		
ALG5	29880	broad.mit.edu	37	13	37563687	37563687	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:37563687A>G	ENST00000239891.3	-	5	447	c.381T>C	c.(379-381)taT>taC	p.Y127Y	ALG5_ENST00000413537.2_Silent_p.Y127Y|ALG5_ENST00000443765.1_Silent_p.Y97Y|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	127					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCACTTCCATATTTCTGGC	0.284																																						uc001uvy.2		NaN																	0					0						c.(379-381)TAT>TAC		dolichyl-phosphate beta-glucosyltransferase							92.0	87.0	89.0					13																	37563687		2202	4299	6501	SO:0001819	synonymous_variant	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37563687A>G	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.381T>C	13.37:g.37563687A>G						ALG5_uc010teq.1_Silent_p.Y97Y|ALG5_uc010ter.1_RNA	p.Y127Y	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	5	448	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	127			Lumenal (Potential).		B4DR37|Q5TBA6	Silent	SNP	ENST00000239891.3	37	c.381T>C	CCDS9361.1																																																																																				0.284	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2		NM_013338		19	34	0	0	0	0.016522	0	19	34		
TSC22D1	8848	broad.mit.edu	37	13	45147390	45147390	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:45147390C>T	ENST00000458659.2	-	1	3311	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	941					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCTACTCCCATCTGAAACT	0.547																																						uc001uzn.3		NaN																	0					0						c.(2821-2823)GGG>AGG		TSC22 domain family, member 1 isoform 1							88.0	82.0	84.0					13																	45147390		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45147390C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2821G>A	13.37:g.45147390C>T	ENSP00000397435:p.Gly941Arg					TSC22D1_uc001uzo.1_Intron	p.G941R	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	3312	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	941					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2821G>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776984	0.49786	.	.	ENSG00000102804	ENST00000458659	T	0.37584	1.19	5.16	4.32	0.51571	.	0.099916	0.44285	N	0.000479	T	0.27765	0.0683	L	0.32530	0.975	0.80722	D	1	B	0.25904	0.137	B	0.26094	0.066	T	0.05178	-1.0901	10	0.23891	T	0.37	.	12.9887	0.58606	0.0:0.9223:0.0:0.0777	.	941	Q15714	T22D1_HUMAN	R	941	ENSP00000397435:G941R	ENSP00000397435:G941R	G	-	1	0	TSC22D1	44045390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.930000	0.56522	1.405000	0.46838	0.561000	0.74099	GGG		0.547	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022		30	16	0	0	0	0.010818	0	30	16		
DACH1	1602	broad.mit.edu	37	13	72440381	72440381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:72440381G>C	ENST00000359684.2	-	1	526	c.527C>G	c.(526-528)tCa>tGa	p.S176*	DACH1_ENST00000313174.7_Nonsense_Mutation_p.S176*|DACH1_ENST00000305425.4_Nonsense_Mutation_p.S176*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.S176*			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	176					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)			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)		GGACGGGGTTGAGTACACGGG	0.607																																						uc010thn.1		NaN																	0				breast(1)	1						c.(520-522)TCA>TGA		dachshund homolog 1 isoform a							21.0	23.0	22.0					13																	72440381		2003	4186	6189	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440381G>C	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.527C>G	13.37:g.72440381G>C	ENSP00000352712:p.Ser176*					DACH1_uc010tho.1_Nonsense_Mutation_p.S174*|DACH1_uc010thp.1_Nonsense_Mutation_p.S174*	p.S174*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	2	944	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	174					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.521C>G		.	.	.	.	.	.	.	.	.	.	G	42	9.482912	0.99183	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	4.0	4.0	0.46444	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.4282	15.6931	0.77469	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000304994:S176X	S	-	2	0	DACH1	71338382	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.828000	0.92047	1.759000	0.51996	0.305000	0.20034	TCA		0.607	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		6	14	0	0	0	0.021553	0	6	14		
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:73636090C>T	ENST00000377687.4	+	2	889	c.353C>T	c.(352-354)tCa>tTa	p.S118L	KLF5_ENST00000539231.1_Missense_Mutation_p.S27L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	118					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GACAGTGCCTCAGTCGTAGAC	0.443																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(352-354)TCA>TTA		Kruppel-like factor 5							182.0	170.0	174.0					13																	73636090		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636090C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.353C>T	13.37:g.73636090C>T	ENSP00000366915:p.Ser118Leu					KLF5_uc001vjd.2_Missense_Mutation_p.S27L	p.S118L	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	677	+		Prostate(6;0.00187)|Breast(118;0.0735)	118					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.353C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667313	0.88348	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.13538	2.92;2.58	6.04	6.04	0.98038	.	0.160337	0.51477	D	0.000089	T	0.35970	0.0950	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.00247	-1.1881	10	0.46703	T	0.11	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	118	Q13887	KLF5_HUMAN	L	27;118;98	ENSP00000440407:S27L;ENSP00000366915:S118L	ENSP00000366915:S118L	S	+	2	0	KLF5	72534091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.591000	0.61019	2.873000	0.98535	0.563000	0.77884	TCA		0.443	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				33	110	0	0	0	0.027894	0	33	110		
RBM26	64062	broad.mit.edu	37	13	79942951	79942951	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:79942951C>A	ENST00000438737.2	-	6	1249	c.809G>T	c.(808-810)aGt>aTt	p.S270I	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000267229.7_Missense_Mutation_p.S270I|RBM26_ENST00000438724.1_Missense_Mutation_p.S270I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	270					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCAGACCAACTTTCGGTAGT	0.433																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(808-810)AGT>ATT		RNA binding motif protein 26							195.0	176.0	182.0					13																	79942951		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79942951C>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.809G>T	13.37:g.79942951C>A	ENSP00000387531:p.Ser270Ile					RBM26_uc001vky.2_Missense_Mutation_p.S270I|RBM26_uc001vla.2_Missense_Mutation_p.S270I|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	p.S270I	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	6	823	-		Acute lymphoblastic leukemia(28;0.0279)	270					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.809G>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.241345	0.79912	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.52983	0.64;0.65	5.92	5.92	0.95590	.	0.039607	0.85682	D	0.000000	T	0.52041	0.1710	L	0.31926	0.97	0.80722	D	1	P;D;P	0.67145	0.791;0.996;0.876	P;P;P	0.59171	0.526;0.853;0.526	T	0.41680	-0.9495	9	.	.	.	-17.3829	13.5183	0.61553	0.0:0.929:0.0:0.071	.	270;270;270	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	I	270;271;270;270	ENSP00000267229:S270I;ENSP00000390222:S270I	.	S	-	2	0	RBM26	78840952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.600000	0.67599	2.810000	0.96702	0.585000	0.79938	AGT		0.433	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		37	67	1	0	9.14704e-12	0.00874	9.72944e-12	37	67		
KDELC1	79070	broad.mit.edu	37	13	103445990	103445990	+	Silent	SNP	C	C	T	rs144061173		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:103445990C>T	ENST00000376004.4	-	3	891	c.555G>A	c.(553-555)caG>caA	p.Q185Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	185						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCTCTGCCTCTGTCCAAATC	0.383																																						uc001vpq.3		NaN																	0				ovary(1)	1						c.(553-555)CAG>CAA		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							148.0	141.0	143.0					13																	103445990		2203	4300	6503	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103445990C>T	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.555G>A	13.37:g.103445990C>T						KDELC1_uc001vpr.3_5'UTR	p.Q185Q	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			3	939	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		185					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.555G>A	CCDS9504.1																																																																																				0.383	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1				34	84	0	0	0	0.023175	0	34	84		
POTEG	404785	broad.mit.edu	37	14	19553758	19553758	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:19553758G>C	ENST00000409832.3	+	1	394	c.342G>C	c.(340-342)aaG>aaC	p.K114N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	114										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGCGGCAAGAGCAAAGTGG	0.597																																						uc001vuz.1		NaN																	0				ovary(1)	1						c.(340-342)AAG>AAC		POTE ankyrin domain family, member G							377.0	410.0	399.0					14																	19553758		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553758G>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.342G>C	14.37:g.19553758G>C	ENSP00000386971:p.Lys114Asn					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.K114N	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	394	+			114					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.342G>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	9.404	1.078781	0.20227	.	.	ENSG00000222036	ENST00000409832	T	0.28666	1.6	0.406	0.406	0.16366	.	.	.	.	.	T	0.25457	0.0619	L	0.38175	1.15	0.09310	N	1	B	0.30634	0.288	B	0.37550	0.253	T	0.32955	-0.9887	8	0.48119	T	0.1	.	.	.	.	.	114	Q6S5H5	POTEG_HUMAN	N	114	ENSP00000386971:K114N	ENSP00000386971:K114N	K	+	3	2	POTEG	18623758	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.097000	0.11042	0.441000	0.26529	0.165000	0.16767	AAG		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1		NM_001005356		61	680	0	0	0	0.01441	0	61	680		
SYNE2	23224	broad.mit.edu	37	14	64690078	64690078	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:64690078A>G	ENST00000344113.4	+	112	20505	c.20293A>G	c.(20293-20295)Atg>Gtg	p.M6765V	SYNE2_ENST00000554805.1_Missense_Mutation_p.M548V|SYNE2_ENST00000555002.1_Missense_Mutation_p.M3422V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M6681V|SYNE2_ENST00000358025.3_Missense_Mutation_p.M6788V|SYNE2_ENST00000441438.2_Missense_Mutation_p.M310V|SYNE2_ENST00000394768.2_Missense_Mutation_p.M3150V|SYNE2_ENST00000458046.2_Missense_Mutation_p.M436V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.M3150V|SYNE2_ENST00000555022.1_Missense_Mutation_p.M643V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6765					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGATTTAATGGCCTTGCA	0.428																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20293-20295)ATG>GTG		spectrin repeat containing, nuclear envelope 2							94.0	91.0	92.0					14																	64690078		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64690078A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20293A>G	14.37:g.64690078A>G	ENSP00000341781:p.Met6765Val					SYNE2_uc001xgl.2_Missense_Mutation_p.M6788V|SYNE2_uc010apy.2_Missense_Mutation_p.M3150V|SYNE2_uc001xgn.2_Missense_Mutation_p.M1727V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M735V|SYNE2_uc001xgq.2_Missense_Mutation_p.M1144V|SYNE2_uc001xgr.2_Missense_Mutation_p.M548V|SYNE2_uc010tsi.1_Missense_Mutation_p.M422V|SYNE2_uc001xgs.2_Missense_Mutation_p.M436V|SYNE2_uc001xgt.2_Missense_Mutation_p.M310V	p.M6765V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	112	20523	+			6765			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20293A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.240136	0.22711	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.56103	0.87;4.17;0.87;0.48;4.22;4.17;3.82;3.33;3.0;2.8	6.03	0.425	0.16473	.	0.477525	0.19601	N	0.110395	T	0.32793	0.0841	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.002;0.001;0.0;0.001;0.001	T	0.23332	-1.0191	10	0.07644	T	0.81	.	7.0151	0.24883	0.5168:0.3414:0.1418:0.0	.	422;3150;310;436;1167;6681;6765;6788	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	V	6788;3150;6765;6681;6687;3422;3150;643;548;436;310	ENSP00000350719:M6788V;ENSP00000349969:M3150V;ENSP00000341781:M6765V;ENSP00000452570:M6681V;ENSP00000450831:M3422V;ENSP00000378249:M3150V;ENSP00000451009:M643V;ENSP00000450605:M548V;ENSP00000391937:M436V;ENSP00000396794:M310V	ENSP00000261678:M6687V	M	+	1	0	SYNE2	63759831	0.011000	0.17503	0.959000	0.39883	0.915000	0.54546	0.275000	0.18698	0.144000	0.18951	0.533000	0.62120	ATG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		15	28	0	0	0	0.00499	0	15	28		
PAPOLA	10914	broad.mit.edu	37	14	97022284	97022284	+	Splice_Site	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:97022284G>A	ENST00000216277.8	+	18	1985	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	PAPOLA_ENST00000392990.2_Splice_Site_p.G589S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	589	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAGCTCAGGGGGTAAGGAGAT	0.403																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(1765-1767)GGT>AGT		poly(A) polymerase alpha							75.0	77.0	76.0					14																	97022284		2203	4300	6503	SO:0001630	splice_region_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022284G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1765+1G>A	14.37:g.97022284G>A						PAPOLA_uc001yfr.2_Missense_Mutation_p.G588S|PAPOLA_uc010twv.1_Missense_Mutation_p.G589S|PAPOLA_uc010avp.2_Missense_Mutation_p.G339S	p.G589S	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	18	1975	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	589			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1765G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495853	0.64186	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.81	5.81	0.92471	.	0.057530	0.64402	D	0.000001	T	0.63307	0.2500	L	0.56769	1.78	0.80722	D	1	B;B;B	0.20052	0.041;0.024;0.024	B;B;B	0.18561	0.018;0.022;0.012	T	0.60535	-0.7244	9	0.07482	T	0.82	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	605;605;589	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	S	589;605;589;339	.	ENSP00000216277:G589S	G	+	1	0	PAPOLA	96092037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.722000	0.74735	2.906000	0.99361	0.655000	0.94253	GGT		0.403	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			Missense_Mutation	32	29	0	0	0	0.015359	0	32	29		
DYNC1H1	1778	broad.mit.edu	37	14	102461424	102461424	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102461424G>A	ENST00000360184.4	+	14	3599	c.3435G>A	c.(3433-3435)caG>caA	p.Q1145Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1145	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCATTCCCAGATCTCAAAGG	0.463																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(3433-3435)CAG>CAA		cytoplasmic dynein 1 heavy chain 1							106.0	97.0	100.0					14																	102461424		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102461424G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3435G>A	14.37:g.102461424G>A							p.Q1145Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			14	3599	+			1145			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.3435G>A	CCDS9966.1																																																																																				0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		21	35	0	0	0	0.012319	0	21	35		
DYNC1H1	1778	broad.mit.edu	37	14	102476256	102476256	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102476256G>C	ENST00000360184.4	+	30	6218	c.6054G>C	c.(6052-6054)atG>atC	p.M2018I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2018	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATCACCATGAACCCTGGCT	0.547																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6052-6054)ATG>ATC		cytoplasmic dynein 1 heavy chain 1							63.0	59.0	60.0					14																	102476256		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476256G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6054G>C	14.37:g.102476256G>C	ENSP00000348965:p.Met2018Ile						p.M2018I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			30	6218	+			2018			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.6054G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186604	0.94885	.	.	ENSG00000197102	ENST00000360184	T	0.42131	0.98	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79885	-0.1614	10	0.87932	D	0	.	19.3801	0.94529	0.0:0.0:1.0:0.0	.	2018	Q14204	DYHC1_HUMAN	I	2018	ENSP00000348965:M2018I	ENSP00000348965:M2018I	M	+	3	0	DYNC1H1	101546009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.644000	0.89710	0.655000	0.94253	ATG		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		31	50	0	0	0	0.017118	0	31	50		
RORA	6095	broad.mit.edu	37	15	60919554	60919554	+	Intron	SNP	C	C	T	rs139672315		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:60919554C>T	ENST00000335670.6	-	2	297				RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000309157.4_Missense_Mutation_p.G7E|RORA_ENST00000261523.5_Missense_Mutation_p.G7E|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCACTGTCTCCTGGGGCCCC	0.547																																						uc002agv.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(19-21)GGA>GAA		RAR-related orphan receptor A isoform b							178.0	163.0	168.0					15																	60919554		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60919554C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51301G>A	15.37:g.60919554C>T						RORA_uc002agw.2_Missense_Mutation_p.G7E|RORA_uc002agx.2_Intron	p.G7E	NM_134260	NP_599022	P35398	RORA_HUMAN			1	176	-			7			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.20G>A	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014381	0.35511	.	.	ENSG00000069667	ENST00000309157;ENST00000261523	D;D	0.95412	-3.7;-3.58	3.08	0.137	0.14787	.	.	.	.	.	D	0.86560	0.5962	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.76318	-0.3003	9	0.38643	T	0.18	.	5.3724	0.16146	0.0:0.6017:0.0:0.3983	.	7;7	P35398-3;P35398	.;RORA_HUMAN	E	7	ENSP00000309753:G7E;ENSP00000261523:G7E	ENSP00000261523:G7E	G	-	2	0	RORA	58706846	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.402000	0.07223	0.033000	0.15463	-0.150000	0.13652	GGA		0.547	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2				44	87	0	0	0	0.01441	0	44	87		
SV2B	9899	broad.mit.edu	37	15	91769539	91769539	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:91769539A>G	ENST00000394232.1	+	2	516	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	SV2B_ENST00000330276.4_Missense_Mutation_p.S16G|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	16					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTATGCTCCCAGTGATGGCTA	0.522																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(46-48)AGT>GGT		synaptic vesicle protein 2B homolog							96.0	80.0	85.0					15																	91769539		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769539A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.46A>G	15.37:g.91769539A>G	ENSP00000377779:p.Ser16Gly					SV2B_uc002bqt.2_Missense_Mutation_p.S16G|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.S16G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	437	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		16			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.46A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	9.297	1.052137	0.19827	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.61392	0.11;0.11	5.3	5.3	0.74995	.	0.886763	0.10156	N	0.709027	T	0.47655	0.1457	L	0.34521	1.04	0.30169	N	0.801465	B	0.12013	0.005	B	0.11329	0.006	T	0.39099	-0.9630	10	0.13470	T	0.59	-0.0785	14.063	0.64810	1.0:0.0:0.0:0.0	.	16	Q7L1I2	SV2B_HUMAN	G	16	ENSP00000377779:S16G;ENSP00000332818:S16G	ENSP00000332818:S16G	S	+	1	0	SV2B	89570543	0.023000	0.18921	0.841000	0.33234	0.656000	0.38851	0.993000	0.29680	2.012000	0.59069	0.460000	0.39030	AGT		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		20	30	0	0	0	0.014323	0	20	30		
MLST8	64223	broad.mit.edu	37	16	2256159	2256159	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:2256159C>G	ENST00000569417.1	+	2	427	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G	MLST8_ENST00000382450.4_Missense_Mutation_p.R25G|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.R25G|MLST8_ENST00000301725.7_Missense_Mutation_p.R44G|MLST8_ENST00000397124.1_Missense_Mutation_p.R25G|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000564088.1_Missense_Mutation_p.R25G|MLST8_ENST00000565250.1_Missense_Mutation_p.R25G	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	25					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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CCACACCGTGCGCTTCTGGCA	0.706																																						uc002coz.2		NaN																	0					0						c.(73-75)CGC>GGC		G protein beta subunit-like							44.0	48.0	47.0					16																	2256159		2057	4187	6244	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256159C>G		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.73C>G	16.37:g.2256159C>G	ENSP00000456405:p.Arg25Gly					MLST8_uc002coy.2_Missense_Mutation_p.R25G|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R25G|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R25G|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R25G|MLST8_uc010uvy.1_Missense_Mutation_p.R25G|MLST8_uc002cpg.2_Missense_Mutation_p.R44G|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R25G	p.R25G	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			2	192	+			25			WD 1.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.73C>G	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970142	0.92855	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.66815	0.93;1.42;0.93;-0.23	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.997	D;D;D	0.91635	0.999;0.979;0.978	D	0.89676	0.3887	10	0.87932	D	0	-45.0737	17.0826	0.86603	0.0:1.0:0.0:0.0	.	25;44;25	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	G	25;25;25;44	ENSP00000371888:R25G;ENSP00000301724:R25G;ENSP00000380313:R25G;ENSP00000301725:R44G	ENSP00000301724:R25G	R	+	1	0	MLST8	2196160	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.564000	0.67359	2.370000	0.80446	0.436000	0.28706	CGC		0.706	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2		NM_022372		46	64	0	0	0	0.01441	0	46	64		
PRSS8	5652	broad.mit.edu	37	16	31144121	31144121	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31144121G>A	ENST00000317508.6	-	4	683	c.420C>T	c.(418-420)ctC>ctT	p.L140L	PRSS8_ENST00000568261.1_Silent_p.L86L|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TGGGTCTGCTGAGTTGGAGGA	0.642																																						uc002ebc.3		NaN																	0					0						c.(418-420)CTC>CTT		prostasin preproprotein							150.0	166.0	160.0					16																	31144121		2190	4280	6470	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31144121G>A	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.420C>T	16.37:g.31144121G>A						PRSS8_uc010vfe.1_Silent_p.L86L	p.L140L	NM_002773	NP_002764	Q16651	PRSS8_HUMAN			4	752	-			140			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.420C>T	CCDS45469.1																																																																																				0.642	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1		NM_002773		279	88	0	0	0	0.01441	0	279	88		
FUS	2521	broad.mit.edu	37	16	31202302	31202302	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31202302A>G	ENST00000254108.7	+	14	1517	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	FUS_ENST00000380244.3_Missense_Mutation_p.D470G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.D472G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	471	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TACGGGGATGATCGTCGTGGT	0.592			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2		NaN		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	0				soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(1411-1413)GAT>GGT		fusion (involved in t(12;16) in malignant							63.0	75.0	71.0					16																	31202302		2196	4300	6496	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202302A>G	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1412A>G	16.37:g.31202302A>G	ENSP00000254108:p.Asp471Gly					FUS_uc002ebh.2_Missense_Mutation_p.D470G|FUS_uc002ebg.2_Missense_Mutation_p.D266G|FUS_uc002ebi.2_Missense_Mutation_p.D472G|FUS_uc002ebj.2_Missense_Mutation_p.D267G	p.D471G	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	14	1495	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	471			Arg/Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.1412A>G	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260348	0.59431	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.95035	-3.59	5.45	4.36	0.52297	.	0.122583	0.52532	D	0.000066	D	0.88321	0.6405	N	0.24115	0.695	0.42382	D	0.992496	B;B;B;B;B	0.28713	0.22;0.1;0.161;0.22;0.1	B;B;B;B;B	0.27380	0.036;0.036;0.079;0.036;0.036	T	0.83251	-0.0053	10	0.27082	T	0.32	-11.6659	10.4555	0.44548	0.922:0.0:0.078:0.0	.	471;471;470;245;471	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	G	471;400	ENSP00000254108:D471G	ENSP00000254108:D471G	D	+	2	0	FUS	31109803	1.000000	0.71417	0.963000	0.40424	0.745000	0.42441	6.151000	0.71806	0.905000	0.36596	0.482000	0.46254	GAT		0.592	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960		53	101	0	0	0	0.01441	0	53	101		
NUP93	9688	broad.mit.edu	37	16	56870618	56870618	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:56870618G>A	ENST00000308159.5	+	17	2009	c.1888G>A	c.(1888-1890)Gac>Aac	p.D630N	NUP93_ENST00000564887.1_Missense_Mutation_p.D507N|NUP93_ENST00000542526.1_Missense_Mutation_p.D507N|NUP93_ENST00000569842.1_Missense_Mutation_p.D630N	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	630					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAAGCTGTATGACCTTGCCAA	0.428																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NaN																	0				ovary(1)|lung(1)	2						c.(1888-1890)GAC>AAC		nucleoporin 93kDa							83.0	76.0	78.0					16																	56870618		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56870618G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1888G>A	16.37:g.56870618G>A	ENSP00000310668:p.Asp630Asn					NUP93_uc002ekb.2_Missense_Mutation_p.D507N|NUP93_uc010vhi.1_Missense_Mutation_p.D507N	p.D630N	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			17	2009	+			630					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1888G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458228	0.96240	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.43688	0.94;0.94	5.41	5.41	0.78517	.	0.042120	0.85682	D	0.000000	T	0.55369	0.1916	M	0.61703	1.905	0.80722	D	1	P	0.45986	0.87	P	0.53360	0.724	T	0.42732	-0.9434	10	0.20519	T	0.43	-24.9908	19.558	0.95361	0.0:0.0:1.0:0.0	.	630	Q8N1F7	NUP93_HUMAN	N	630;507	ENSP00000310668:D630N;ENSP00000440235:D507N	ENSP00000310668:D630N	D	+	1	0	NUP93	55428119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.388000	0.97237	2.697000	0.92050	0.655000	0.94253	GAC		0.428	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4		NM_014669		14	20	0	0	0	0.028581	0	14	20		
SMYD4	114826	broad.mit.edu	37	17	1686727	1686727	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:1686727C>G	ENST00000305513.7	-	9	2231	c.2064G>C	c.(2062-2064)gaG>gaC	p.E688D		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	688							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACAGGAAGCTCTCGGCGTCAC	0.612																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.(2062-2064)GAG>GAC		SET and MYND domain containing 4							29.0	28.0	28.0					17																	1686727		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1686727C>G	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2064G>C	17.37:g.1686727C>G	ENSP00000304360:p.Glu688Asp					SMYD4_uc002ftn.1_Missense_Mutation_p.E543D	p.E688D	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			9	2232	-			688					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.2064G>C	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791406	0.31685	.	.	ENSG00000186532	ENST00000305513	T	0.64438	-0.1	5.75	4.79	0.61399	Tetratricopeptide-like helical (1);	0.344622	0.37906	N	0.001883	T	0.60183	0.2249	M	0.76574	2.34	0.27978	N	0.936157	B	0.33583	0.418	B	0.36134	0.218	T	0.54002	-0.8358	10	0.20046	T	0.44	-21.2021	10.013	0.41997	0.0:0.8315:0.0:0.1685	.	688	Q8IYR2	SMYD4_HUMAN	D	688	ENSP00000304360:E688D	ENSP00000304360:E688D	E	-	3	2	SMYD4	1633477	0.176000	0.23096	0.981000	0.43875	0.201000	0.24016	1.558000	0.36309	1.444000	0.47605	0.555000	0.69702	GAG		0.612	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082		16	50	0	0	0	0.00499	0	16	50		
KIF1C	10749	broad.mit.edu	37	17	4910784	4910784	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:4910784G>A	ENST00000320785.5	+	16	1795	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	480					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGCTGAGATGGGGGTGGCCGT	0.607																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	0				breast(2)	2						c.(1438-1440)GGG>AGG		kinesin family member 1C							102.0	110.0	107.0					17																	4910784		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4910784G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1438G>A	17.37:g.4910784G>A	ENSP00000320821:p.Gly480Arg						p.G480R	NM_006612	NP_006603	O43896	KIF1C_HUMAN			16	1764	+			480					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1438G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229220	0.95173	.	.	ENSG00000129250	ENST00000320785	T	0.79454	-1.27	5.04	5.04	0.67666	.	.	.	.	.	D	0.89139	0.6630	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90527	0.4493	9	0.87932	D	0	.	16.6945	0.85332	0.0:0.0:1.0:0.0	.	480	O43896	KIF1C_HUMAN	R	480	ENSP00000320821:G480R	ENSP00000320821:G480R	G	+	1	0	KIF1C	4851508	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.863000	0.87023	2.728000	0.93425	0.655000	0.94253	GGG		0.607	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				65	311	0	0	0	0.01441	0	65	311		
RABEP1	9135	broad.mit.edu	37	17	5257704	5257704	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:5257704A>G	ENST00000546142.2	+	8	1201	c.1014A>G	c.(1012-1014)gcA>gcG	p.A338A	RABEP1_ENST00000341923.6_Silent_p.A338A|RABEP1_ENST00000262477.6_Silent_p.A338A|RABEP1_ENST00000408982.2_Silent_p.A338A|RABEP1_ENST00000537505.1_Silent_p.A295A			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	338					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAAAAAGCAGATGTTGAGG	0.323																																						uc002gbm.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1012-1014)GCA>GCG		rabaptin, RAB GTPase binding effector protein 1							132.0	122.0	125.0					17																	5257704		1825	4088	5913	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5257704A>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1014A>G	17.37:g.5257704A>G						RABEP1_uc010clc.1_Silent_p.A331A|RABEP1_uc010cld.1_Silent_p.A295A|RABEP1_uc010vsw.1_Silent_p.A295A|RABEP1_uc002gbl.3_Silent_p.A338A	p.A338A	NM_004703	NP_004694	Q15276	RABE1_HUMAN			8	1238	+			338			Potential.		B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1014A>G	CCDS45592.1																																																																																				0.323	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1		NM_004703		8	30	0	0	0	0.006214	0	8	30		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	G	rs11540652		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7577538C>G	ENST00000269305.4	-	7	932	c.743G>C	c.(742-744)cGg>cCg	p.R248P	TP53_ENST00000413465.2_Missense_Mutation_p.R248P|TP53_ENST00000420246.2_Missense_Mutation_p.R248P|TP53_ENST00000455263.2_Missense_Mutation_p.R248P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248P|TP53_ENST00000445888.2_Missense_Mutation_p.R248P	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							152.0	112.0	126.0					17																	7577538		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.chr17:7577538C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>C	17.37:g.7577538C>G	ENSP00000269305:p.Arg248Pro	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.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P	p.R248P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.743G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061628	0.76187	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.62	3.65	0.41850	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	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999;0.999	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	P	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248P;ENSP00000352610:R248P;ENSP00000269305:R248P;ENSP00000398846:R248P;ENSP00000391127:R248P;ENSP00000391478:R248P;ENSP00000425104:R116P;ENSP00000423862:R155P	ENSP00000269305:R248P	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		124	21	0	0	0	0.01441	0	124	21		
GUCY2D	3000	broad.mit.edu	37	17	7906989	7906989	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7906989G>A	ENST00000254854.4	+	2	774	c.624G>A	c.(622-624)cgG>cgA	p.R208R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	208					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TCAGGGCCCGGGGCCTGCCTG	0.711																																						uc002gjt.2		NaN																	0				skin(1)	1						c.(622-624)CGG>CGA		guanylate cyclase 2D, membrane (retina-specific)							9.0	10.0	9.0					17																	7906989		2052	4125	6177	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7906989G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.624G>A	17.37:g.7906989G>A							p.R208R	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			2	698	+		Prostate(122;0.157)	208			Extracellular (Potential).		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.624G>A	CCDS11127.1																																																																																				0.711	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2				10	52	0	0	0	0.010729	0	10	52		
MYH4	4622	broad.mit.edu	37	17	10364372	10364372	+	Splice_Site	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10364372C>G	ENST00000255381.2	-	12	1119		c.e12-1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCACAGCACTCTGTCAAAAGA	0.473																																						uc002gmn.2		NaN																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.e12-1		myosin, heavy polypeptide 4, skeletal muscle							120.0	105.0	110.0					17																	10364372		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10364372C>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1009-1G>C	17.37:g.10364372C>G						uc002gml.1_Intron	p.S337_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			12	1120	-									Splice_Site	SNP	ENST00000255381.2	37	c.1009_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624121	0.87560	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3365	0.94320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10305097	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.892000	0.69790	2.726000	0.93360	0.650000	0.86243	.		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533	Intron	22	103	0	0	0	0.009535	0	22	103		
MYH1	4619	broad.mit.edu	37	17	10409366	10409366	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10409366A>G	ENST00000226207.5	-	18	2113	c.2019T>C	c.(2017-2019)ttT>ttC	p.F673F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	673	Actin-binding. {ECO:0000250}.|Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCACCGCACAAAGTGGGGGT	0.423																																						uc002gmo.2		NaN																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2017-2019)TTT>TTC		myosin, heavy chain 1, skeletal muscle, adult							131.0	133.0	132.0					17																	10409366		2203	4297	6500	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409366A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2019T>C	17.37:g.10409366A>G						uc002gml.1_Intron	p.F673F	NM_005963	NP_005954	P12882	MYH1_HUMAN			18	2113	-			673			Myosin head-like.|Actin-binding (By similarity).		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2019T>C	CCDS11155.1																																																																																				0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		35	166	0	0	0	0.01441	0	35	166		
KCNJ12	3768	broad.mit.edu	37	17	21319580	21319580	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:21319580C>G	ENST00000583088.1	+	3	1821	c.926C>G	c.(925-927)aCc>aGc	p.T309S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T309S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	309					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACAGCCATGACCACCCAGGCC	0.607										Prostate(3;0.18)																												uc002gyv.1		NaN																	0				ovary(3)|skin(1)	4						c.(925-927)ACC>AGC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						100.0	99.0	99.0					17																	21319580		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319580C>G	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.926C>G	17.37:g.21319580C>G	ENSP00000463778:p.Thr309Ser	Prostate(3;0.18)					p.T309S	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1631	+			309			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.926C>G	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258688	0.80246	.	.	ENSG00000184185	ENST00000331718	D	0.94966	-3.57	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96814	0.9599	10	0.46703	T	0.11	.	18.8312	0.92141	0.0:1.0:0.0:0.0	.	309	Q14500	IRK12_HUMAN	S	309	ENSP00000328150:T309S	ENSP00000328150:T309S	T	+	2	0	KCNJ12	21260173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.686000	0.84128	2.455000	0.83008	0.561000	0.74099	ACC		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012		22	268	0	0	0	0.027356	0	22	268		
HNF1B	6928	broad.mit.edu	37	17	36070615	36070615	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:36070615G>A	ENST00000225893.4	-	5	1463	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HNF1B_ENST00000560016.1_Missense_Mutation_p.H368Y|HNF1B_ENST00000561193.1_Missense_Mutation_p.H342Y|HNF1B_ENST00000427275.2_Missense_Mutation_p.H342Y	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	368					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGCCATGGTGACTGATTGTT	0.537																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3		NaN																	0				ovary(3)	3						c.(1102-1104)CAC>TAC		hepatocyte nuclear factor 1-beta isoform 1							84.0	73.0	77.0					17																	36070615		2203	4300	6503	SO:0001583	missense	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070615G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1102C>T	17.37:g.36070615G>A	ENSP00000225893:p.His368Tyr					HNF1B_uc010wdi.1_Missense_Mutation_p.H342Y	p.H368Y	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1323	-		Breast(25;0.00765)|Ovarian(249;0.15)	368					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1102C>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352184	0.82132	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.97505	-4.41;-4.41	5.7	5.7	0.88788	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.949;0.996	D	0.98623	1.0668	10	0.52906	T	0.07	-6.1206	18.836	0.92162	0.0:0.0:1.0:0.0	.	342;368	E0YMJ6;P35680	.;HNF1B_HUMAN	Y	368;342;368;256	ENSP00000225893:H368Y;ENSP00000412212:H342Y	ENSP00000225893:H368Y	H	-	1	0	HNF1B	33144728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.428000	0.97476	2.698000	0.92095	0.655000	0.94253	CAC		0.537	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3		NM_000458		21	46	0	0	0	0.016522	0	21	46		
MED1	5469	broad.mit.edu	37	17	37563898	37563898	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37563898G>C	ENST00000300651.6	-	17	4799	c.4576C>G	c.(4576-4578)Cat>Gat	p.H1526D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.H1526Y(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTGATGCTATGAGATTTTTTC	0.428										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4576-4578)CAT>GAT		mediator complex subunit 1							216.0	196.0	203.0					17																	37563898		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563898G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4576C>G	17.37:g.37563898G>C	ENSP00000300651:p.His1526Asp	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.H1354D|MED1_uc002hru.2_Intron	p.H1526D	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4788	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1526			Lys-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4576C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598538	0.46318	.	.	ENSG00000125686	ENST00000300651	T	0.37058	1.22	5.78	4.8	0.61643	.	.	.	.	.	T	0.25344	0.0616	N	0.24115	0.695	0.37463	D	0.915284	B	0.02656	0.0	B	0.01281	0.0	T	0.10567	-1.0624	9	0.54805	T	0.06	-8.8229	10.344	0.43895	0.0698:0.1359:0.7943:0.0	.	1526	Q15648	MED1_HUMAN	D	1526	ENSP00000300651:H1526D	ENSP00000300651:H1526D	H	-	1	0	MED1	34817424	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.021000	0.88750	1.431000	0.47355	-0.165000	0.13383	CAT		0.428	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774		21	83	0	0	0	0.016522	0	21	83		
MIEN1	84299	broad.mit.edu	37	17	37885818	37885818	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37885818A>G	ENST00000394231.3	-	4	596	c.305T>C	c.(304-306)cTa>cCa	p.L102P	MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_3'UTR			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	102					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										GATCTTTTCTAGGGTTTCTCC	0.542																																						uc002hsq.2		NaN																	0					0						c.(304-306)CTA>CCA		hypothetical protein LOC84299							237.0	219.0	225.0					17																	37885818		2203	4300	6503	SO:0001583	missense	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37885818A>G	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.305T>C	17.37:g.37885818A>G	ENSP00000377778:p.Leu102Pro						p.L102P	NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	345	-	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		102						Missense_Mutation	SNP	ENST00000394231.3	37	c.305T>C	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988465	0.74589	.	.	ENSG00000141741	ENST00000394231	T	0.51071	0.72	5.8	5.8	0.92144	.	0.181621	0.33980	N	0.004371	T	0.43831	0.1265	L	0.39245	1.2	0.80722	D	1	P	0.43094	0.799	B	0.42214	0.38	T	0.35051	-0.9804	10	0.40728	T	0.16	-23.1607	15.1273	0.72493	1.0:0.0:0.0:0.0	.	102	Q9BRT3	MIEN1_HUMAN	P	102	ENSP00000377778:L102P	ENSP00000377778:L102P	L	-	2	0	C17orf37	35139344	0.989000	0.36119	0.997000	0.53966	0.984000	0.73092	7.848000	0.86902	2.216000	0.71823	0.482000	0.46254	CTA		0.542	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3		NM_032339		40	190	0	0	0	0.009718	0	40	190		
PLEKHH3	79990	broad.mit.edu	37	17	40823016	40823016	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:40823016C>G	ENST00000591022.1	-	9	1804	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	PLEKHH3_ENST00000293349.6_Intron|PLEKHH3_ENST00000412503.1_Intron|PLEKHH3_ENST00000456950.2_Intron	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	473	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ATTTACTTCTCAAACCTGGTG	0.637																																						uc002iau.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1417-1419)GAG>CAG		pleckstrin homology domain containing, family H							54.0	63.0	60.0					17																	40823016		2123	4235	6358	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823016C>G	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1417G>C	17.37:g.40823016C>G	ENSP00000468678:p.Glu473Gln					PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_Intron|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Intron	p.E473Q	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1884	-		Breast(137;0.00116)	473			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1417G>C	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169487	0.78452	.	.	ENSG00000068137	ENST00000293349	.	.	.	5.16	5.16	0.70880	Band 4.1 domain (1);FERM domain (1);	0.000000	0.47093	D	0.000244	T	0.77922	0.4203	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.80037	-0.1550	9	0.66056	D	0.02	.	18.2783	0.90091	0.0:1.0:0.0:0.0	.	473	Q7Z736	PKHH3_HUMAN	Q	473	.	ENSP00000293349:E473Q	E	-	1	0	PLEKHH3	38076542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.055000	0.57441	2.420000	0.82092	0.561000	0.74099	GAG		0.637	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1		NM_024927		69	252	0	0	0	0.01441	0	69	252		
DCAF7	10238	broad.mit.edu	37	17	61628110	61628110	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:61628110G>C	ENST00000310827.4	+	1	289	c.72G>C	c.(70-72)tgG>tgC	p.W24C	DCAF7_ENST00000431926.1_Missense_Mutation_p.W24C|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.W24C	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	24					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CGATGAACTGGAGTGTGCGGC	0.642																																						uc002jbc.2		NaN																	0				ovary(1)	1						c.(70-72)TGG>TGC		WD-repeat protein							62.0	68.0	66.0					17																	61628110		1997	4164	6161	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61628110G>C	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.72G>C	17.37:g.61628110G>C	ENSP00000308344:p.Trp24Cys					DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.W24C	p.W24C	NM_005828	NP_005819	P61962	DCAF7_HUMAN			1	289	+			24					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.72G>C		.	.	.	.	.	.	.	.	.	.	G	31	5.059464	0.93846	.	.	ENSG00000136485	ENST00000310827;ENST00000431926;ENST00000415273	T;T;T	0.66460	-0.16;-0.21;1.38	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.93808	3.46	0.80722	D	1	P;D	0.89917	0.943;1.0	P;D	0.70935	0.759;0.971	D	0.89826	0.3992	10	0.87932	D	0	-17.3123	19.6415	0.95760	0.0:0.0:1.0:0.0	.	24;24	B4E039;P61962	.;DCAF7_HUMAN	C	24	ENSP00000308344:W24C;ENSP00000402312:W24C;ENSP00000403920:W24C	ENSP00000308344:W24C	W	+	3	0	DCAF7	58981842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.115000	0.94336	2.651000	0.90000	0.561000	0.74099	TGG		0.642	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005828		28	97	0	0	0	0.027356	0	28	97		
ABCA8	10351	broad.mit.edu	37	17	66913593	66913593	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:66913593C>T	ENST00000269080.2	-	15	2065		c.e15-1		ABCA8_ENST00000430352.2_Splice_Site|ABCA8_ENST00000586539.1_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTTTCCTGTCTGAAAAAGAA	0.373																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.e15-1		ATP-binding cassette, sub-family A member 8							66.0	75.0	72.0					17																	66913593		2203	4300	6503	SO:0001630	splice_region_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66913593C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1928-1G>A	17.37:g.66913593C>T						ABCA8_uc002jhq.2_Splice_Site_p.D683_splice|ABCA8_uc010wqq.1_Splice_Site_p.D683_splice|ABCA8_uc010wqr.1_Splice_Site_p.D622_splice|ABCA8_uc002jhr.2_Splice_Site_p.D683_splice	p.D643_splice	NM_007168	NP_009099	O94911	ABCA8_HUMAN			15	2107	-	Breast(10;4.56e-13)							A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	c.1928_splice	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710345	0.30322	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2483	0.87034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA8	64425188	1.000000	0.71417	0.994000	0.49952	0.032000	0.12392	6.893000	0.75649	2.554000	0.86153	0.549000	0.68633	.		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168	Intron	19	66	0	0	0	0.007413	0	19	66		
PYCR1	5831	broad.mit.edu	37	17	79892301	79892301	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:79892301G>A	ENST00000329875.8	-	6	762	c.698C>T	c.(697-699)tCt>tTt	p.S233F	RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000337943.5_Missense_Mutation_p.S233F|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.S260F|PYCR1_ENST00000403172.4_Missense_Mutation_p.S202F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	233					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CCCACCAGGAGAGCTGACGTT	0.637																																						uc002kcr.1		NaN																	0					0						c.(697-699)TCT>TTT		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						55.0	42.0	47.0					17																	79892301		2203	4298	6501	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892301G>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.698C>T	17.37:g.79892301G>A	ENSP00000328858:p.Ser233Phe					PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.S233F|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.S260F|PYCR1_uc002kct.1_Missense_Mutation_p.S233F|PYCR1_uc002kcu.1_Missense_Mutation_p.S202F|PYCR1_uc010wve.1_Missense_Mutation_p.S154F	p.S233F	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	976	-	all_neural(118;0.0878)|Ovarian(332;0.12)		233					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.698C>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121078	0.77436	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000402252;ENST00000405481	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.28	3.47	3.47	0.39725	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	H	0.97440	4.005	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	0.97110	1.0;0.953;0.921;0.921;0.921	D	0.98476	1.0603	10	0.87932	D	0	.	15.159	0.72767	0.0:0.0:1.0:0.0	.	174;260;233;233;233	B7Z8T1;B4DMU0;E7D7X9;P32322;A6NFM2	.;.;.;P5CR1_HUMAN;.	F	233;233;260;174	ENSP00000336579:S233F;ENSP00000328858:S233F;ENSP00000384949:S260F;ENSP00000386002:S174F	ENSP00000328858:S233F	S	-	2	0	PYCR1	77485592	1.000000	0.71417	0.950000	0.38849	0.918000	0.54935	7.587000	0.82613	1.780000	0.52325	0.561000	0.74099	TCT		0.637	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1				5	40	0	0	0	0.014758	0	5	40		
DUS1L	64118	broad.mit.edu	37	17	80017896	80017896	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:80017896C>T	ENST00000354321.7	-	10	1581	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	DUS1L_ENST00000306796.5_Missense_Mutation_p.E366K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	366							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GACAGGACCTCCGTGCCACCC	0.652																																						uc002kdq.2		NaN																	0				skin(1)	1						c.(1096-1098)GAG>AAG		PP3111 protein							127.0	112.0	117.0					17																	80017896		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80017896C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1096G>A	17.37:g.80017896C>T	ENSP00000346280:p.Glu366Lys					DUS1L_uc002kdp.2_Missense_Mutation_p.E235K|DUS1L_uc002kdr.2_Missense_Mutation_p.E366K|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	p.E366K	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		10	1515	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		366					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.1096G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832459	0.32421	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T	0.32515	1.45;1.45	5.03	5.03	0.67393	.	0.490333	0.23215	N	0.050636	T	0.26774	0.0655	L	0.41236	1.265	0.58432	D	0.999995	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.06303	-1.0834	10	0.14252	T	0.57	-7.689	17.5078	0.87750	0.0:1.0:0.0:0.0	.	366;235	Q6P1R4;Q9BTJ3	DUS1L_HUMAN;.	K	366;366;229;233	ENSP00000346280:E366K;ENSP00000303515:E366K	ENSP00000303515:E366K	E	-	1	0	DUS1L	77611185	0.963000	0.33076	0.060000	0.19600	0.031000	0.12232	3.286000	0.51724	2.608000	0.88229	0.563000	0.77884	GAG		0.652	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1		NM_022156		23	102	0	0	0	0.021523	0	23	102		
USP14	9097	broad.mit.edu	37	18	179002	179002	+	Missense_Mutation	SNP	G	G	A	rs141269921		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:179002G>A	ENST00000261601.7	+	4	356	c.265G>A	c.(265-267)Gta>Ata	p.V89I	USP14_ENST00000582707.1_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.V78I|USP14_ENST00000383589.2_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	89					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AACTGTCTTCGTAGAAGACAT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17965	0.0		0.001	False		,,,				2504	0.0					uc002kkf.1		NaN																	0				ovary(2)	2						c.(265-267)GTA>ATA		ubiquitin specific protease 14 isoform a							66.0	61.0	63.0					18																	179002		2203	4300	6503	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:179002G>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.265G>A	18.37:g.179002G>A	ENSP00000261601:p.Val89Ile					USP14_uc002kkg.1_Intron|USP14_uc010wyr.1_Missense_Mutation_p.V78I	p.V89I	NM_005151	NP_005142	P54578	UBP14_HUMAN			4	481	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	89					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.265G>A	CCDS32780.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.03	2.711069	0.48517	.	.	ENSG00000101557	ENST00000261601;ENST00000400266	T;T	0.31510	1.49;1.5	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	N	0.21583	0.68	0.80722	D	1	D;B	0.54772	0.968;0.105	P;B	0.56343	0.796;0.006	T	0.02282	-1.1183	10	0.17369	T	0.5	.	19.9291	0.97113	0.0:0.0:1.0:0.0	.	78;89	B7Z4N8;P54578	.;UBP14_HUMAN	I	89;78	ENSP00000261601:V89I;ENSP00000383125:V78I	ENSP00000261601:V89I	V	+	1	0	USP14	169002	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	7.155000	0.77445	2.808000	0.96608	0.551000	0.68910	GTA		0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3		NM_005151		25	22	0	0	0	0.010818	0	25	22		
L3MBTL4	91133	broad.mit.edu	37	18	6301906	6301906	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:6301906A>C	ENST00000284898.6	-	4	323	c.123T>G	c.(121-123)agT>agG	p.S41R	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S41R|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.S41R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S41R	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	41					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATTACCGTGACTCAAAGGGG	0.338																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NaN																	0				skin(2)|pancreas(1)	3						c.(121-123)AGT>AGG		l(3)mbt-like 4							274.0	260.0	265.0					18																	6301906		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6301906A>C	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.123T>G	18.37:g.6301906A>C	ENSP00000284898:p.Ser41Arg					L3MBTL4_uc010dkt.2_Missense_Mutation_p.S41R	p.S41R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			4	283	-		Colorectal(10;0.0249)	41					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.123T>G	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	.	7.133	0.580242	0.13686	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14022	2.54;2.54;2.54;2.76	5.23	-1.52	0.08637	.	0.201111	0.31167	N	0.008126	T	0.05868	0.0153	N	0.24115	0.695	0.09310	N	1	B	0.27625	0.183	B	0.22386	0.039	T	0.40213	-0.9575	10	0.13853	T	0.58	.	5.1103	0.14806	0.4938:0.1566:0.3496:0.0	.	41	Q8NA19	LMBL4_HUMAN	R	41	ENSP00000382976:S41R;ENSP00000318543:S41R;ENSP00000284898:S41R;ENSP00000382975:S41R	ENSP00000284898:S41R	S	-	3	2	L3MBTL4	6291906	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.226000	0.17776	-0.415000	0.07484	-0.334000	0.08254	AGT		0.338	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2		NM_173464		25	118	0	0	0	0.012213	0	25	118		
ANKRD12	23253	broad.mit.edu	37	18	9281059	9281059	+	Missense_Mutation	SNP	G	G	A	rs560288198		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:9281059G>A	ENST00000262126.4	+	13	6364	c.6124G>A	c.(6124-6126)Gaa>Aaa	p.E2042K	snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E2019K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E2019K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2042						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGCATTTACGAAATCCAGGA	0.418																																						uc002knv.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(6124-6126)GAA>AAA		ankyrin repeat domain 12 isoform 1							143.0	139.0	141.0					18																	9281059		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9281059G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6124G>A	18.37:g.9281059G>A	ENSP00000262126:p.Glu2042Lys					ANKRD12_uc002knw.2_Missense_Mutation_p.E2019K|ANKRD12_uc002knx.2_Missense_Mutation_p.E2019K	p.E2042K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			13	6381	+			2042					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.6124G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755754	0.89843	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.71103	-0.54;-0.54	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.83273	-0.0042	10	0.87932	D	0	-26.6485	19.6028	0.95570	0.0:0.0:1.0:0.0	.	2019;2042	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	2019;2042	ENSP00000372932:E2019K;ENSP00000262126:E2042K	ENSP00000262126:E2042K	E	+	1	0	ANKRD12	9271059	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	9.869000	0.99810	2.648000	0.89879	0.591000	0.81541	GAA		0.418	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208		48	79	0	0	0	0.01441	0	48	79		
CELF4	56853	broad.mit.edu	37	18	34901838	34901838	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:34901838G>A	ENST00000591282.1	-	3	375	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CELF4_ENST00000334919.5_Missense_Mutation_p.R126W|CELF4_ENST00000591287.1_Missense_Mutation_p.R126W|CELF4_ENST00000588597.1_Missense_Mutation_p.R126W|CELF4_ENST00000420428.2_Missense_Mutation_p.R126W|CELF4_ENST00000361795.5_Missense_Mutation_p.R126W|CELF4_ENST00000412753.1_Missense_Mutation_p.R126W|CELF4_ENST00000603232.1_Missense_Mutation_p.R126W|CELF4_ENST00000601019.1_Missense_Mutation_p.R126W			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	126	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGATCGGCCGGTTCATCTGC	0.627											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lae.2		NaN																	0				ovary(2)	2						c.(376-378)CGG>TGG		bruno-like 4, RNA binding protein isoform 1							58.0	49.0	52.0					18																	34901838		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34901838G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.376C>T	18.37:g.34901838G>A	ENSP00000464794:p.Arg126Trp		OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	CELF4_uc010dnd.1_Missense_Mutation_p.R126W|CELF4_uc002lag.2_Missense_Mutation_p.R126W|CELF4_uc002laf.2_Missense_Mutation_p.R122W|CELF4_uc002lai.2_Missense_Mutation_p.R122W	p.R126W	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			3	772	-			126			RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.376C>T	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.969503|3.969503	0.74246|0.74246	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361683|ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	.|T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86	5.19|5.19	4.23|4.23	0.50019|0.50019	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.107759	.|0.64402	.|D	.|0.000010	T|T	0.63593|0.63593	0.2524|0.2524	M|M	0.65320|0.65320	2|2	0.50813|0.50813	D|D	0.999897|0.999897	.|D;D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0;0.998	.|D;D;D;D;P	.|0.87578	.|0.921;0.917;0.998;0.992;0.836	T|T	0.66460|0.66460	-0.5918|-0.5918	6|10	0.56958|0.87932	D|D	0.05|0	-11.1095|-11.1095	11.7713|11.7713	0.51960|0.51960	0.0:0.0:0.745:0.255|0.0:0.0:0.745:0.255	.|.	.|126;126;126;126;126	.|Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.|.;.;.;.;CELF4_HUMAN	L|W	20|126	.|ENSP00000355089:R126W;ENSP00000406823:R126W;ENSP00000410584:R126W;ENSP00000335631:R126W	ENSP00000355189:P20L|ENSP00000335631:R126W	P|R	-|-	2|1	0|2	CELF4|CELF4	33155836|33155836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	1.157000|1.157000	0.31724|0.31724	2.413000|2.413000	0.81919|0.81919	0.484000|0.484000	0.47621|0.47621	CCG|CGG		0.627	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180		41	67	0	0	0	0.01441	0	41	67		
DSEL	92126	broad.mit.edu	37	18	65180301	65180301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:65180301C>T	ENST00000310045.7	-	2	3048	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	515					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTGACCTTCCCAGGGCTTAT	0.488																																						uc002lke.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1573-1575)TGG>TGA		dermatan sulfate epimerase-like							80.0	70.0	73.0					18																	65180301		2203	4300	6503	SO:0001587	stop_gained	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180301C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1575G>A	18.37:g.65180301C>T	ENSP00000310565:p.Trp525*						p.W525*	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2799	-		Esophageal squamous(42;0.129)	515					Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	c.1575G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	50	16.817535	0.99872	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	5.67	5.67	0.87782	.	0.077673	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5874	19.3714	0.94488	0.0:1.0:0.0:0.0	.	.	.	.	X	525;515	.	ENSP00000310565:W525X	W	-	3	0	DSEL	63331281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.633000	0.83260	2.687000	0.91594	0.563000	0.77884	TGG		0.488	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1		NM_032160		33	75	0	0	0	0.019004	0	33	75		
CSNK1G2	1455	broad.mit.edu	37	19	1978971	1978971	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:1978971C>G	ENST00000255641.8	+	6	1056	c.561C>G	c.(559-561)atC>atG	p.I187M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCATCGACTTCGGGC	0.617																																					Ovarian(91;880 1392 21236 36928 37598)	uc002lul.3		NaN																	0				stomach(1)	1						c.(559-561)ATC>ATG		casein kinase 1, gamma 2							49.0	41.0	44.0					19																	1978971		2203	4298	6501	SO:0001583	missense	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978971C>G	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.561C>G	19.37:g.1978971C>G	ENSP00000255641:p.Ile187Met					CSNK1G2_uc010dsu.2_Missense_Mutation_p.I139M	p.I187M	NM_001319	NP_001310	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1084	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	187			Protein kinase.		B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	c.561C>G	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.229600	0.58777	.	.	ENSG00000133275	ENST00000255641	T	0.25414	1.8	4.45	-1.08	0.09936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	H	0.95260	3.645	0.46823	D	0.999219	D	0.89917	1.0	D	0.85130	0.997	T	0.48198	-0.9056	10	0.87932	D	0	.	1.2818	0.02042	0.2806:0.3876:0.1381:0.1937	.	187	P78368	KC1G2_HUMAN	M	187	ENSP00000255641:I187M	ENSP00000255641:I187M	I	+	3	3	CSNK1G2	1929971	0.745000	0.28261	0.999000	0.59377	0.989000	0.77384	-0.142000	0.10311	0.000000	0.14550	-0.254000	0.11334	ATC		0.617	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1		NM_001319		35	82	0	0	0	0.027894	0	35	82		
AES	166	broad.mit.edu	37	19	3053861	3053861	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:3053861C>T	ENST00000327141.4	-	7	906	c.550G>A	c.(550-552)Gat>Aat	p.D184N	AES_ENST00000586839.1_Missense_Mutation_p.D128N|AES_ENST00000221561.8_Missense_Mutation_p.D251N|AES_ENST00000592330.1_Intron|AC005944.2_ENST00000592758.1_RNA	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	184	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCACCATCGTGCCCGTTC	0.682																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1		NaN																	0					0						c.(550-552)GAT>AAT		amino-terminal enhancer of split isoform b							45.0	38.0	41.0					19																	3053861		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3053861C>T	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.550G>A	19.37:g.3053861C>T	ENSP00000317537:p.Asp184Asn					AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.D183N|AES_uc002lxa.1_Missense_Mutation_p.D128N|AES_uc002lxb.1_Missense_Mutation_p.D251N|AES_uc002lxc.2_Missense_Mutation_p.R277Q	p.D184N	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	723	-		Hepatocellular(1079;0.137)	184			CCN domain.		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.550G>A	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	c	11.13	1.549367	0.27652	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.47869	0.83;0.87	3.65	2.61	0.31194	.	0.188433	0.43747	U	0.000530	T	0.39253	0.1071	M	0.65498	2.005	0.33506	D	0.590529	B;P	0.45768	0.136;0.866	B;B	0.34722	0.006;0.188	T	0.55742	-0.8093	10	0.48119	T	0.1	.	9.6476	0.39877	0.0:0.8924:0.0:0.1076	.	251;184	Q14CJ1;Q08117	.;AES_HUMAN	N	251;184	ENSP00000221561:D251N;ENSP00000317537:D184N	ENSP00000221561:D251N	D	-	1	0	AES	3004861	1.000000	0.71417	0.476000	0.27291	0.125000	0.20455	5.368000	0.66133	0.523000	0.28482	-0.142000	0.14014	GAT		0.682	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1		NM_198969		19	83	0	0	0	0.024334	0	19	83		
PLIN3	10226	broad.mit.edu	37	19	4852049	4852049	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:4852049G>A	ENST00000221957.4	-	5	789	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	PLIN3_ENST00000585479.1_Missense_Mutation_p.P205S|PLIN3_ENST00000592528.1_Missense_Mutation_p.P193S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	205					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCCGTAAGGGGCAGGTGGTTG	0.682											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mbj.2		NaN																	0					0						c.(613-615)CCC>TCC		mannose 6 phosphate receptor binding protein 1	Galsulfase(DB01279)|Idursulfase(DB01271)						54.0	42.0	46.0					19																	4852049		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852049G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.613C>T	19.37:g.4852049G>A	ENSP00000221957:p.Pro205Ser		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_uc002mbk.2_Missense_Mutation_p.P193S|PLIN3_uc002mbl.3_Missense_Mutation_p.P205S	p.P205S	NM_005817	NP_005808	O60664	PLIN3_HUMAN			5	790	-			205					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.613C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083011	0.76642	.	.	ENSG00000105355	ENST00000221957	T	0.54071	0.59	5.17	5.17	0.71159	.	0.148446	0.44688	U	0.000426	T	0.77638	0.4160	M	0.88450	2.955	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.998	T	0.82615	-0.0370	10	0.87932	D	0	-9.0879	17.4223	0.87517	0.0:0.0:1.0:0.0	.	205;22;205	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	S	205	ENSP00000221957:P205S	ENSP00000221957:P205S	P	-	1	0	PLIN3	4803049	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	9.747000	0.98863	2.403000	0.81681	0.561000	0.74099	CCC		0.682	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1		NM_005817		18	81	0	0	0	0.016522	0	18	81		
GPR108	56927	broad.mit.edu	37	19	6731901	6731901	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:6731901C>T	ENST00000264080.7	-	14	1327		c.e14+1		GPR108_ENST00000430424.4_Splice_Site|GPR108_ENST00000598626.1_Splice_Site	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CAGGGCCTCACCCTTCCCGTC	0.662																																						uc002mfp.2		NaN																	0					0						c.e14+1		G protein-coupled receptor 108 isoform 1							27.0	36.0	33.0					19																	6731901		2119	4215	6334	SO:0001630	splice_region_variant	56927					integral to membrane		g.chr19:6731901C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1300+1G>A	19.37:g.6731901C>T						GPR108_uc010duv.2_Intron|GPR108_uc002mfn.2_Splice_Site_p.V105_splice|GPR108_uc002mfo.3_Splice_Site_p.V192_splice|GPR108_uc010duw.2_Splice_Site	p.V434_splice	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN			14	1346	-								B9EJD7	Splice_Site	SNP	ENST00000264080.7	37	c.1300_splice	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796707	0.31777	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000550472;ENST00000430424	.	.	.	4.14	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9322	0.41530	0.0:0.896:0.0:0.104	.	.	.	.	.	-1	.	.	.	-	.	.	GPR108	6682901	1.000000	0.71417	0.999000	0.59377	0.353000	0.29299	3.864000	0.56024	0.870000	0.35726	0.491000	0.48974	.		0.662	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			Intron	13	1	0	0	0	0.020292	0	13	1		
CLEC4M	10332	broad.mit.edu	37	19	7833781	7833781	+	Silent	SNP	G	G	A	rs144974332		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7833781G>A	ENST00000327325.5	+	7	1225	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	CLEC4M_ENST00000394122.2_Silent_p.A357A|CLEC4M_ENST00000596707.1_Silent_p.A302A|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000248228.4_Silent_p.A347A|CLEC4M_ENST00000359059.5_Silent_p.A302A|CLEC4M_ENST00000595496.1_Silent_p.A233A|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000334806.5_Silent_p.A318A	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	369	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGACTGTGCGGAATTTAGTG	0.512																																						uc002mih.2		NaN																	0				pancreas(1)	1						c.(1036-1038)GCG>GCA		C-type lectin domain family 4, member M isoform		G	,,,,,,,,	1,4405		0,1,2202	184.0	167.0	173.0		954,1035,699,906,,969,1038,,1107	-4.9	0.0	19	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous,coding-synonymous,utr-3,coding-synonymous	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	,,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,	318/349,345/376,233/264,302/333,,323/354,346/377,,369/400	7833781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833781G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1107G>A	19.37:g.7833781G>A						CLEC4M_uc010xjw.1_Silent_p.A302A|CLEC4M_uc010dvt.2_Silent_p.A323A|CLEC4M_uc010dvs.2_Silent_p.A345A|CLEC4M_uc010xjx.1_Silent_p.A318A|CLEC4M_uc002mhz.2_3'UTR|CLEC4M_uc002mic.2_3'UTR|CLEC4M_uc002mia.2_Silent_p.A233A	p.A346A	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			8	1156	+			369			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.1038G>A	CCDS12187.1																																																																																				0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1		NM_014257		14	148	0	0	0	0.00499	0	14	148		
EVI5L	115704	broad.mit.edu	37	19	7918186	7918186	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7918186G>C	ENST00000270530.4	+	10	1309	c.1113G>C	c.(1111-1113)aaG>aaC	p.K371N	EVI5L_ENST00000538904.2_Missense_Mutation_p.K371N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	371					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGCCATGAAGAGCAAGGAGA	0.627											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002min.2		NaN																	0				ovary(1)	1						c.(1111-1113)AAG>AAC		ecotropic viral integration site 5-like isoform							56.0	50.0	52.0					19																	7918186		2202	4300	6502	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7918186G>C	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1113G>C	19.37:g.7918186G>C	ENSP00000270530:p.Lys371Asn		OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	EVI5L_uc010xjz.1_Missense_Mutation_p.K371N|EVI5L_uc002mio.1_Missense_Mutation_p.K102N	p.K371N	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			10	1267	+			371			Potential.		B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.1113G>C	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082216	0.55861	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97256	-4.31;3.29	4.97	-0.0328	0.13903	.	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	L	0.46819	1.47	0.48236	D	0.999613	B;B	0.24675	0.109;0.001	B;B	0.23852	0.049;0.005	D	0.87211	0.2247	10	0.87932	D	0	-58.4403	6.7606	0.23538	0.5523:0.0:0.4477:0.0	.	371;371	B9A6I9;Q96CN4	.;EVI5L_HUMAN	N	371	ENSP00000270530:K371N;ENSP00000445905:K371N	ENSP00000270530:K371N	K	+	3	2	EVI5L	7824186	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.920000	0.40025	0.164000	0.19529	0.407000	0.27541	AAG		0.627	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1		NM_145245		7	15	0	0	0	0.00308	0	7	15		
MUC16	94025	broad.mit.edu	37	19	9017366	9017366	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9017366C>T	ENST00000397910.4	-	26	38161	c.37958G>A	c.(37957-37959)aGg>aAg	p.R12653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12655	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTTCCTGTCCAGGGT	0.567																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37957-37959)AGG>AAG		mucin 16							199.0	184.0	189.0					19																	9017366		1950	4156	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9017366C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37958G>A	19.37:g.9017366C>T	ENSP00000381008:p.Arg12653Lys						p.R12653K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			26	38162	-			12655			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37958G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.377	-0.127163	0.06795	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	3.26	-6.53	0.01866	.	.	.	.	.	T	0.14787	0.0357	L	0.31664	0.95	.	.	.	B	0.19817	0.039	B	0.09377	0.004	T	0.25187	-1.0139	8	0.87932	D	0	.	7.2495	0.26142	0.0:0.6088:0.1489:0.2424	.	12653	B5ME49	.	K	12653	ENSP00000381008:R12653K	ENSP00000381008:R12653K	R	-	2	0	MUC16	8878366	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-4.087000	0.00297	-1.771000	0.01293	-0.497000	0.04613	AGG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		259	52	0	0	0	0.01441	0	259	52		
MUC16	94025	broad.mit.edu	37	19	9072253	9072253	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9072253A>C	ENST00000397910.4	-	3	15396	c.15193T>G	c.(15193-15195)Tcc>Gcc	p.S5065A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5067	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAGGAGAGGAGAGCTTATCC	0.478																																						uc002mkp.2		NaN																	0		p.S5065Y(1)		lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15193-15195)TCC>GCC		mucin 16							124.0	114.0	117.0					19																	9072253		1938	4137	6075	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072253A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15193T>G	19.37:g.9072253A>C	ENSP00000381008:p.Ser5065Ala						p.S5065A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15397	-			5067			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15193T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.036	0.374968	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.28255	1.62	1.74	1.74	0.24563	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.28235	-1.0050	8	0.87932	D	0	.	5.7081	0.17919	1.0:0.0:0.0:0.0	.	5065	B5ME49	.	A	5065	ENSP00000381008:S5065A	ENSP00000381008:S5065A	S	-	1	0	MUC16	8933253	0.000000	0.05858	0.004000	0.12327	0.162000	0.22319	-0.494000	0.06451	1.089000	0.41292	0.234000	0.17832	TCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		65	18	0	0	0	0.01441	0	65	18		
OR7G2	390882	broad.mit.edu	37	19	9213857	9213857	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9213857C>T	ENST00000305456.2	-	1	125	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCTGCAGTTCCGGATCCTCTA	0.468																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1		NaN																	0				skin(1)	1						c.(124-126)CCG>CCA		olfactory receptor, family 7, subfamily G,							117.0	106.0	110.0					19																	9213857		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213857C>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.126G>A	19.37:g.9213857C>T							p.P42P	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	126	-			21			Extracellular (Potential).		Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.126G>A	CCDS32897.1																																																																																				0.468	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1				30	94	0	0	0	0.017118	0	30	94		
ZNF426	79088	broad.mit.edu	37	19	9639507	9639507	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9639507G>A	ENST00000535489.1	-	6	1550	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	ZNF426_ENST00000593003.1_Missense_Mutation_p.S367L|ZNF426_ENST00000253115.2_Missense_Mutation_p.S405L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTAAGATTTGAGGAAACTGC	0.408																																						uc002mlq.2		NaN																	0				ovary(1)	1						c.(1213-1215)TCA>TTA		zinc finger protein 426							80.0	75.0	77.0					19																	9639507		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639507G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1214C>T	19.37:g.9639507G>A	ENSP00000439017:p.Ser405Leu					ZNF426_uc010dws.2_Missense_Mutation_p.S367L	p.S405L	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1478	-			405			C2H2-type 7.		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1214C>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707760	0.30322	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.36520	1.25;1.25	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36468	0.0968	M	0.77712	2.385	0.20563	N	0.999888	B;B	0.27286	0.174;0.174	B;B	0.19148	0.024;0.024	T	0.37244	-0.9714	9	0.62326	D	0.03	.	8.3839	0.32488	0.0:0.0:1.0:0.0	.	392;405	Q59EH4;Q9BUY5	.;ZN426_HUMAN	L	392;405;405	ENSP00000253115:S405L;ENSP00000439017:S405L	ENSP00000253115:S405L	S	-	2	0	ZNF426	9500507	0.000000	0.05858	0.003000	0.11579	0.236000	0.25371	-0.271000	0.08572	0.981000	0.38548	0.313000	0.20887	TCA		0.408	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1		NM_024106		8	27	0	0	0	0.004482	0	8	27		
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:12187502A>G	ENST00000439326.3	+	4	1742	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	523					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.K523E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413																																						uc002mtb.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1567-1569)AAA>GAA		zinc finger protein 844							94.0	85.0	88.0					19																	12187502		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187502A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1567A>G	19.37:g.12187502A>G	ENSP00000392024:p.Lys523Glu					ZNF844_uc010dym.1_Missense_Mutation_p.K366E	p.K523E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1710	+			523					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1567A>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	a	8.659	0.899999	0.17686	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.05786	3.39	2.31	-0.0571	0.13803	.	.	.	.	.	T	0.04452	0.0122	L	0.53617	1.68	0.09310	N	1	B	0.26081	0.141	B	0.15052	0.012	T	0.46638	-0.9177	9	0.05833	T	0.94	.	2.4497	0.04515	0.525:0.0:0.2647:0.2102	.	523	Q08AG5	ZN844_HUMAN	E	523	ENSP00000392024:K523E	ENSP00000392024:K523E	K	+	1	0	ZNF844	12048502	0.000000	0.05858	0.000000	0.03702	0.438000	0.31896	-0.320000	0.08028	-0.243000	0.09653	0.166000	0.16787	AAA		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2				4	44	0	0	0	0.014758	0	4	44		
FCHO1	23149	broad.mit.edu	37	19	17892531	17892531	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:17892531G>A	ENST00000596536.1	+	23	2122	c.1839G>A	c.(1837-1839)cgG>cgA	p.R613R	FCHO1_ENST00000595033.1_Silent_p.R563R|FCHO1_ENST00000594202.1_Silent_p.R613R|FCHO1_ENST00000600676.1_Silent_p.R613R|FCHO1_ENST00000597512.1_Silent_p.R620R|FCHO1_ENST00000539407.1_Silent_p.R613R|FCHO1_ENST00000596951.1_Silent_p.R613R|FCHO1_ENST00000389133.4_Silent_p.R613R|FCHO1_ENST00000252771.7_Silent_p.R613R	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	613	Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAGTCTCCCGGGGTCCGAGCC	0.627																																						uc010ebb.2		NaN																	0				breast(1)	1						c.(1837-1839)CGG>CGA		FCH domain only 1 isoform b							86.0	86.0	86.0					19																	17892531		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17892531G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1839G>A	19.37:g.17892531G>A						FCHO1_uc002nhg.3_Silent_p.R613R|FCHO1_uc002nhh.2_Silent_p.R613R|FCHO1_uc010xpw.1_Silent_p.R563R|FCHO1_uc002nhi.2_Silent_p.R69R|FCHO1_uc002nhj.2_5'UTR	p.R613R	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			22	2028	+			613					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	c.1839G>A	CCDS32955.1																																																																																				0.627	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		214	45	0	0	0	0.01441	0	214	45		
KIAA1683	80726	broad.mit.edu	37	19	18378333	18378333	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378333C>G	ENST00000600328.3	-	3	210	c.17G>C	c.(16-18)aGa>aCa	p.R6T	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R6T|KIAA1683_ENST00000600359.3_5'UTR			Q9H0B3	K1683_HUMAN	KIAA1683	6						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGTCAGCTCTGCCTGTGGG	0.652																																						uc002nin.2		NaN																	0				ovary(2)	2						c.(16-18)AGA>ACA		KIAA1683 isoform b							47.0	54.0	51.0					19																	18378333		2200	4280	6480	SO:0001583	missense	80726					mitochondrion		g.chr19:18378333C>G	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.17G>C	19.37:g.18378333C>G	ENSP00000470780:p.Arg6Thr					KIAA1683_uc010ebn.2_Missense_Mutation_p.R6T|KIAA1683_uc010xqe.1_5'UTR	p.R6T	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	233	-			6					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.17G>C	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588811	0.46110	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000358422;ENST00000411671	T;T	0.03982	3.74;3.76	2.58	-1.18	0.09617	.	.	.	.	.	T	0.02929	0.0087	N	0.24115	0.695	0.18873	N	0.999987	B;B	0.26081	0.053;0.141	B;B	0.15052	0.012;0.012	T	0.44128	-0.9348	9	0.34782	T	0.22	0.0232	4.7294	0.12957	0.2901:0.3292:0.3807:0.0	.	6;6	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	6;6;5;6	ENSP00000376213:R6T;ENSP00000352774:R6T	ENSP00000351198:R5T	R	-	2	0	KIAA1683	18239333	0.000000	0.05858	0.006000	0.13384	0.406000	0.30931	-0.621000	0.05559	-0.189000	0.10482	0.313000	0.20887	AGA		0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3				88	177	0	0	0	0.01441	0	88	177		
ZNF626	199777	broad.mit.edu	37	19	20807986	20807986	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:20807986C>G	ENST00000601440.1	-	4	843	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398																																						uc002npb.1		NaN																	0				skin(1)	1						c.(697-699)GAA>CAA		zinc finger protein 626 isoform 1							53.0	57.0	56.0					19																	20807986		2177	4287	6464	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807986C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.697G>C	19.37:g.20807986C>G	ENSP00000469958:p.Glu233Gln					ZNF626_uc002npc.1_Missense_Mutation_p.E157Q	p.E233Q	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	847	-			233			C2H2-type 3.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.697G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.359188	0.24598	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39091	0.1065	L	0.42686	1.345	0.26159	N	0.980025	P	0.36438	0.553	P	0.44561	0.453	T	0.33007	-0.9885	8	0.44086	T	0.13	.	6.9412	0.24494	0.0:0.9999:0.0:1.0E-4	.	233	Q68DY1	ZN626_HUMAN	Q	233;157;233	.	ENSP00000445201:E233Q	E	-	1	0	ZNF626	20599826	0.000000	0.05858	0.541000	0.28102	0.541000	0.35023	0.097000	0.15168	0.162000	0.19483	0.165000	0.16767	GAA		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		11	41	0	0	0	0.020292	0	11	41		
ZNF536	9745	broad.mit.edu	37	19	31039640	31039640	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:31039640A>G	ENST00000355537.3	+	4	3261	c.3114A>G	c.(3112-3114)acA>acG	p.T1038T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1038					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCGGGGTCACAGTCAACTGCA	0.537																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3112-3114)ACA>ACG		zinc finger protein 536							85.0	76.0	79.0					19																	31039640		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039640A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3114A>G	19.37:g.31039640A>G						ZNF536_uc010edd.1_Silent_p.T1038T	p.T1038T	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3252	+	Esophageal squamous(110;0.0834)		1038					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3114A>G	CCDS32984.1																																																																																				0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		32	104	0	0	0	0.015359	0	32	104		
PRX	57716	broad.mit.edu	37	19	40909668	40909668	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:40909668G>A	ENST00000324001.7	-	5	399	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PRX_ENST00000291825.7_Silent_p.F43F	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	43	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCCGAACGAAGATTCCCT	0.701																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(127-129)TTC>TTT		periaxin isoform 2							14.0	12.0	13.0					19																	40909668		2186	4287	6473	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40909668G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.129C>T	19.37:g.40909668G>A						PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.F43F	p.F43F	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	398	-			43			PDZ.		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.129C>T	CCDS33028.1																																																																																				0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		5	15	0	0	0	0.021553	0	5	15		
PNMAL2	57469	broad.mit.edu	37	19	46997598	46997598	+	Intron	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:46997598G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.V375V|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGACGGACAAGACCTGTCGGA	0.642																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(1123-1125)GTC>GTT		PNMA-like 2							26.0	28.0	27.0					19																	46997598		1950	4121	6071	SO:0001627	intron_variant	57469							g.chr19:46997598G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+390C>T	19.37:g.46997598G>A						uc002peu.1_5'Flank	p.V375V	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1572	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	375					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.1125C>T																																																																																					0.642	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		8	41	0	0	0	0.004482	0	8	41		
PTGIR	5739	broad.mit.edu	37	19	47124612	47124612	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47124612G>A	ENST00000291294.2	-	3	1219	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	PTGIR_ENST00000594275.1_Silent_p.P119P|PTGIR_ENST00000597185.1_Silent_p.P91P|PTGIR_ENST00000598865.1_Silent_p.P150P	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	362					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	ACTGCTGTGTGGGAGGCAAGG	0.657																																						uc002pex.2		NaN																	0					0						c.(1084-1086)CCC>CCT		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						35.0	36.0	36.0					19																	47124612		2203	4300	6503	SO:0001819	synonymous_variant	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47124612G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.1086C>T	19.37:g.47124612G>A							p.P362P	NM_000960	NP_000951	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	3	1199	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	362			Cytoplasmic (Potential).			Silent	SNP	ENST00000291294.2	37	c.1086C>T	CCDS12686.1																																																																																				0.657	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1				53	15	0	0	0	0.01441	0	53	15		
ARHGAP35	2909	broad.mit.edu	37	19	47424411	47424411	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47424411G>A	ENST00000404338.3	+	1	2479	c.2479G>A	c.(2479-2481)Gga>Aga	p.G827R		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	827					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										ACTACCAATCGGACTGCACAA	0.408																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(2479-2481)GGA>AGA		glucocorticoid receptor DNA binding factor 1							166.0	155.0	159.0					19																	47424411		1917	4128	6045	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424411G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2479G>A	19.37:g.47424411G>A	ENSP00000385720:p.Gly827Arg						p.G827R	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2479	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	827					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2479G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148379	0.78001	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.49432	0.78	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70568	-0.4836	10	0.87932	D	0	-18.7245	18.5057	0.90896	0.0:0.0:1.0:0.0	.	827	Q9NRY4-2	.	R	827	ENSP00000385720:G827R	ENSP00000324820:G827R	G	+	1	0	ARHGAP35	52116251	1.000000	0.71417	0.737000	0.30932	0.988000	0.76386	9.810000	0.99221	2.743000	0.94032	0.655000	0.94253	GGA		0.408	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		23	33	0	0	0	0.024334	0	23	33		
DBP	1628	broad.mit.edu	37	19	49136903	49136903	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:49136903G>A	ENST00000222122.5	-	3	1003	c.560C>T	c.(559-561)tCt>tTt	p.S187F	DBP_ENST00000593500.1_5'UTR|DBP_ENST00000601104.1_Missense_Mutation_p.S187F|DBP_ENST00000599385.1_5'UTR	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	187					liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TGTGTCCCGAGAGGTCAGGCC	0.542																																						uc002pjx.3		NaN																	0					0						c.(559-561)TCT>TTT		D site of albumin promoter (albumin D-box)							109.0	100.0	103.0					19																	49136903		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49136903G>A	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.560C>T	19.37:g.49136903G>A	ENSP00000222122:p.Ser187Phe					DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.S187F	p.S187F	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	3	948	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	187					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.560C>T	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590801	0.86851	.	.	ENSG00000105516	ENST00000222122	.	.	.	5.11	5.11	0.69529	.	0.565740	0.16777	U	0.199941	T	0.68485	0.3006	L	0.43923	1.385	0.51012	D	0.999904	D	0.61080	0.989	D	0.63957	0.92	T	0.69331	-0.5173	9	0.62326	D	0.03	-19.7304	16.4186	0.83751	0.0:0.0:1.0:0.0	.	187	Q10586	DBP_HUMAN	F	187	.	ENSP00000222122:S187F	S	-	2	0	DBP	53828715	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.244000	0.65400	2.553000	0.86117	0.655000	0.94253	TCT		0.542	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1		NM_001352		29	81	0	0	0	0.009535	0	29	81		
GPR32	2854	broad.mit.edu	37	19	51274466	51274466	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:51274466G>C	ENST00000270590.4	+	1	746	c.609G>C	c.(607-609)caG>caC	p.Q203H		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	203					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGACTGCCCAGATTTGGATTG	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(607-609)CAG>CAC		G protein-coupled receptor 32							60.0	58.0	59.0					19																	51274466		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274466G>C	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.609G>C	19.37:g.51274466G>C	ENSP00000270590:p.Gln203His						p.Q203H	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	609	+		all_neural(266;0.131)	203			Extracellular (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.609G>C	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	8.401	0.841859	0.16963	.	.	ENSG00000142511	ENST00000270590	T	0.31247	1.5	2.62	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39009	0.1062	L	0.35854	1.095	0.09310	N	1	D	0.57899	0.981	D	0.64506	0.926	T	0.14364	-1.0475	9	0.56958	D	0.05	.	7.7503	0.28894	0.1439:0.0:0.8561:0.0	.	203	O75388	GPR32_HUMAN	H	203	ENSP00000270590:Q203H	ENSP00000270590:Q203H	Q	+	3	2	GPR32	55966278	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.244000	0.18124	0.370000	0.24538	0.313000	0.20887	CAG		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1				57	13	0	0	0	0.01441	0	57	13		
UBE2M	9040	broad.mit.edu	37	19	59069644	59069644	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:59069644C>T	ENST00000253023.3	-	1	683	c.105G>A	c.(103-105)caG>caA	p.Q35Q	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	35	Interaction with UBA3.				cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTACCCTTCTGGATCCGCA	0.647																																						uc002qtl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(103-105)CAG>CAA		ubiquitin-conjugating enzyme E2M							18.0	19.0	19.0					19																	59069644		2203	4298	6501	SO:0001819	synonymous_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59069644C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.105G>A	19.37:g.59069644C>T						LOC100131691_uc002qtm.2_5'Flank	p.Q35Q	NM_003969	NP_003960	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	1	700	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	35	Q->A: Strongly impairs thioester intermediate formation.		Interaction with UBA3.		O76069|Q8VC50	Silent	SNP	ENST00000253023.3	37	c.105G>A	CCDS12987.1																																																																																				0.647	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1		NM_003969		17	58	0	0	0	0.008871	0	17	58		
ABCG8	64241	broad.mit.edu	37	2	44101118	44101118	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:44101118C>T	ENST00000272286.2	+	9	1494	c.1404C>T	c.(1402-1404)atC>atT	p.I468I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	468	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGATGTCATCTCCAAATGTG	0.542																																						uc002rtq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1402-1404)ATC>ATT		ATP-binding cassette sub-family G member 8							165.0	154.0	158.0					2																	44101118		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44101118C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1404C>T	2.37:g.44101118C>T						ABCG8_uc010yoa.1_Silent_p.I467I	p.I468I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			9	1494	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	468			Helical; Name=2; (Potential).|ABC transmembrane type-2.		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1404C>T	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1		NM_022437		62	97	0	0	0	0.01441	0	62	97		
SLC4A5	57835	broad.mit.edu	37	2	74462335	74462335	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:74462335C>A	ENST00000377634.4	-	22	2725	c.2326G>T	c.(2326-2328)Gcc>Tcc	p.A776S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.A776S|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A776S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A776S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.A776S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A776S|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCACCAGGGCCCGGACCTGC	0.532																																						uc002sko.1		NaN																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(2326-2328)GCC>TCC		sodium bicarbonate transporter 4 isoform a							72.0	65.0	67.0					2																	74462335		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74462335C>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2326G>T	2.37:g.74462335C>A	ENSP00000366861:p.Ala776Ser					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.A776S|SLC4A5_uc010ffc.1_Missense_Mutation_p.A776S|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	p.A776S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			17	2328	-			776			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.2326G>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	6.905	0.536574	0.13188	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.8	1.94	0.25998	Bicarbonate transporter, C-terminal (1);	0.605129	0.17392	N	0.175869	T	0.44891	0.1315	N	0.01168	-0.975	0.21967	N	0.999447	B;B;B	0.22983	0.027;0.078;0.002	B;B;B	0.34038	0.026;0.174;0.022	T	0.45440	-0.9261	10	0.08599	T	0.76	.	2.7361	0.05240	0.2094:0.4965:0.0:0.294	.	776;776;776	Q9BY07-4;Q9BY07;Q9BY07-3	.;S4A5_HUMAN;.	S	776	ENSP00000377587:A776S;ENSP00000251768:A776S;ENSP00000395804:A776S;ENSP00000350475:A776S;ENSP00000366859:A776S;ENSP00000366861:A776S	ENSP00000251768:A776S	A	-	1	0	SLC4A5	74315843	0.028000	0.19301	1.000000	0.80357	0.976000	0.68499	0.496000	0.22499	0.703000	0.31848	0.650000	0.86243	GCC		0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3				20	10	1	0	1.96292e-10	0.010504	2.08011e-10	20	10		
FABP1	2168	broad.mit.edu	37	2	88425824	88425824	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:88425824C>A	ENST00000295834.3	-	2	209	c.111G>T	c.(109-111)ggG>ggT	p.G37G	FABP1_ENST00000393750.3_Silent_p.G37G|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	37					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TTTCCGACACCCCCTTGATAT	0.532																																						uc002sst.1		NaN																	0					0						c.(109-111)GGG>GGT		fatty acid binding protein 1, liver							294.0	245.0	262.0					2																	88425824		2203	4300	6503	SO:0001819	synonymous_variant	2168				organ morphogenesis			g.chr2:88425824C>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.111G>T	2.37:g.88425824C>A						FABP1_uc002ssu.2_Silent_p.G37G	p.G37G	NM_001443	NP_001434	P07148	FABPL_HUMAN			2	153	-			37						Silent	SNP	ENST00000295834.3	37	c.111G>T	CCDS2001.1																																																																																				0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1		NM_001443		104	197	1	0	2.09629e-50	0.01441	2.36249e-50	104	197		
DPP10	57628	broad.mit.edu	37	2	116066873	116066873	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:116066873T>A	ENST00000410059.1	+	2	599	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.L44Q|DPP10_ENST00000310323.8_Missense_Mutation_p.L33Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	40	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTGCTCTGCTGGTGATTTTA	0.408																																						uc002tla.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(118-120)CTG>CAG		dipeptidyl peptidase 10 isoform long							221.0	203.0	209.0					2																	116066873		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066873T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.119T>A	2.37:g.116066873T>A	ENSP00000386565:p.Leu40Gln					DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Missense_Mutation_p.L36Q|DPP10_uc002tle.2_Missense_Mutation_p.L44Q|DPP10_uc002tlf.1_Missense_Mutation_p.L33Q	p.L40Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			2	576	+			40			Mediates effects on KCND2.|Helical; Signal-anchor for type II membrane protein; (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.119T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437735	0.83885	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000016	T	0.72819	0.3508	M	0.86502	2.82	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.996;0.996	T	0.78489	-0.2184	10	0.87932	D	0	-16.6114	14.9658	0.71193	0.0:0.0:0.0:1.0	.	33;44;36;40	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Q	40;36;44;33	ENSP00000386565:L40Q;ENSP00000376854:L36Q;ENSP00000376855:L44Q;ENSP00000309066:L33Q	ENSP00000309066:L33Q	L	+	2	0	DPP10	115783343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.502000	0.81614	2.135000	0.66039	0.533000	0.62120	CTG		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868		28	28	0	0	0	0.021022	0	28	28		
TTN	7273	broad.mit.edu	37	2	179397839	179397839	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:179397839C>G	ENST00000591111.1	-	308	98804	c.98580G>C	c.(98578-98580)gaG>gaC	p.E32860D	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25628D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25436D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25561D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31933D|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34501D|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32860					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCAGAGCCTCTTTAGCTA	0.428																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(95797-95799)GAG>GAC		titin isoform N2-A							194.0	193.0	193.0					2																	179397839		1904	4110	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397839C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98580G>C	2.37:g.179397839C>G	ENSP00000465570:p.Glu32860Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25628D|TTN_uc010zfi.1_Missense_Mutation_p.E25561D|TTN_uc010zfj.1_Missense_Mutation_p.E25436D	p.E31933D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96023	-			32860					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.95799G>C		.	.	.	.	.	.	.	.	.	.	C	11.59	1.684041	0.29872	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;0.13;0.12;0.11	5.94	5.94	0.96194	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45756	0.1358	N	0.14661	0.345	0.34027	D	0.653349	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.11329	0.006;0.006;0.006;0.006	T	0.54302	-0.8314	9	0.87932	D	0	.	10.4011	0.44231	0.0:0.8546:0.0:0.1454	.	25436;25561;25628;32860	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	31933;25436;25628;25561;25433	ENSP00000343764:E31933D;ENSP00000434586:E25436D;ENSP00000340554:E25628D;ENSP00000352154:E25561D	ENSP00000340554:E25628D	E	-	3	2	TTN	179106085	0.984000	0.35163	1.000000	0.80357	0.925000	0.55904	0.238000	0.18004	2.826000	0.97356	0.561000	0.74099	GAG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		37	60	0	0	0	0.007835	0	37	60		
TNS1	7145	broad.mit.edu	37	2	218699859	218699859	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:218699859C>T	ENST00000171887.4	-	19	3312	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	TNS1_ENST00000419504.1_Missense_Mutation_p.E954K|TNS1_ENST00000430930.1_Missense_Mutation_p.E954K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	954					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCATCTCCTCGAAGGCCTCC	0.572																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(2860-2862)GAG>AAG		tensin							72.0	63.0	66.0					2																	218699859		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218699859C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2860G>A	2.37:g.218699859C>T	ENSP00000171887:p.Glu954Lys					TNS1_uc002vgr.2_Missense_Mutation_p.E954K|TNS1_uc002vgs.2_Missense_Mutation_p.E954K|TNS1_uc010zjv.1_Missense_Mutation_p.E954K	p.E954K	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	19	3258	-		Renal(207;0.0483)|Lung NSC(271;0.213)	954					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2860G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450416	0.84101	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92048	-2.96;1.98;-2.96;-2.96	5.31	5.31	0.75309	.	0.643188	0.15336	N	0.267778	D	0.91713	0.7380	L	0.34521	1.04	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.994	P;P;P	0.53006	0.715;0.644;0.572	D	0.90820	0.4708	10	0.41790	T	0.15	.	17.9011	0.88904	0.0:1.0:0.0:0.0	.	954;954;954	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	K	954;113;954;954	ENSP00000171887:E954K;ENSP00000394171:E113K;ENSP00000408724:E954K;ENSP00000406016:E954K	ENSP00000171887:E954K	E	-	1	0	TNS1	218408104	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	6.492000	0.73654	2.749000	0.94314	0.655000	0.94253	GAG		0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		38	13	0	0	0	0.013114	0	38	13		
ALPP	250	broad.mit.edu	37	2	233245162	233245162	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:233245162C>G	ENST00000392027.2	+	7	1094	c.825C>G	c.(823-825)ctC>ctG	p.L275L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	275					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCACTGAGCTCATGCAGGCTT	0.647																																						uc002vsq.2		NaN																	0				ovary(1)	1						c.(823-825)CTC>CTG		placental alkaline phosphatase preproprotein							118.0	121.0	120.0					2																	233245162		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245162C>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.825C>G	2.37:g.233245162C>G						ALPP_uc002vsr.2_5'Flank	p.L275L	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	990	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	275					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.825C>G	CCDS2490.1																																																																																				0.647	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3		NM_001632		65	117	0	0	0	0.01441	0	65	117		
PANK2	80025	broad.mit.edu	37	20	3870313	3870313	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:3870313C>G	ENST00000316562.4	+	1	572	c.566C>G	c.(565-567)tCt>tGt	p.S189C	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.S66C|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	189					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGACTGGGCTCTTACAGCGGC	0.751																																						uc002wkc.2		NaN																	0					0						c.(565-567)TCT>TGT		pantothenate kinase 2 isoform 1 preproprotein							6.0	7.0	7.0					20																	3870313		1479	3188	4667	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3870313C>G	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.566C>G	20.37:g.3870313C>G	ENSP00000313377:p.Ser189Cys					uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	p.S189C	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			1	572	+			189					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.566C>G	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505458	0.64410	.	.	ENSG00000125779	ENST00000316562	D	0.97352	-4.35	4.58	4.58	0.56647	.	0.554792	0.18126	N	0.150885	D	0.93605	0.7958	N	0.08118	0	0.37351	D	0.910819	D	0.56287	0.975	P	0.49708	0.62	D	0.94738	0.7916	10	0.59425	D	0.04	.	13.0491	0.58944	0.0:1.0:0.0:0.0	.	189	Q9BZ23	PANK2_HUMAN	C	189	ENSP00000313377:S189C	ENSP00000313377:S189C	S	+	2	0	PANK2	3818313	0.964000	0.33143	0.937000	0.37676	0.260000	0.26232	1.035000	0.30216	2.538000	0.85594	0.643000	0.83706	TCT		0.751	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960		6	38	0	0	0	0.00308	0	6	38		
CFAP61	26074	broad.mit.edu	37	20	20051628	20051628	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:20051628G>T	ENST00000245957.5	+	3	350	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	C20orf26_ENST00000377306.1_Missense_Mutation_p.D92Y|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D92Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		92										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGGAGCTCGACAGTGACAT	0.498																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(274-276)GAC>TAC		hypothetical protein LOC26074							99.0	85.0	90.0					20																	20051628		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20051628G>T																												ENST00000245957.5:c.274G>T	20.37:g.20051628G>T	ENSP00000245957:p.Asp92Tyr					C20orf26_uc010gcw.1_Missense_Mutation_p.D46Y|C20orf26_uc010zse.1_Missense_Mutation_p.D92Y|C20orf26_uc010zsf.1_Missense_Mutation_p.D92Y	p.D92Y	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	3	350	+			92					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.274G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	2.126	-0.400240	0.04865	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.61	5.61	0.85477	.	0.269718	0.36932	N	0.002334	T	0.41834	0.1176	N	0.04820	-0.15	0.80722	D	1	D;B;P;D	0.89917	1.0;0.051;0.638;1.0	D;B;B;D	0.91635	0.999;0.014;0.205;0.982	T	0.38993	-0.9635	10	0.20046	T	0.44	.	15.138	0.72583	0.0:0.0:1.0:0.0	.	92;92;46;92	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	Y	46;92;92;92;92;92;92;92	ENSP00000345553:D46Y;ENSP00000245957:D92Y;ENSP00000366521:D92Y;ENSP00000366518:D92Y;ENSP00000417086:D92Y;ENSP00000414537:D92Y	ENSP00000245957:D92Y	D	+	1	0	C20orf26	19999628	0.992000	0.36948	0.626000	0.29213	0.375000	0.29983	3.066000	0.50002	2.657000	0.90304	0.655000	0.94253	GAC		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				28	136	1	0	6.05902e-23	0.017118	6.64387e-23	28	136		
KCNS1	3787	broad.mit.edu	37	20	43727083	43727083	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:43727083G>A	ENST00000306117.1	-	4	726	c.330C>T	c.(328-330)ttC>ttT	p.F110F	KCNS1_ENST00000537075.1_Silent_p.F110F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGCTCAGGAAGAAGCCCGGGT	0.692																																						uc002xnc.2		NaN																	0					0						c.(328-330)TTC>TTT		potassium voltage-gated channel							22.0	24.0	23.0					20																	43727083		2188	4282	6470	SO:0001819	synonymous_variant	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43727083G>A	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.330C>T	20.37:g.43727083G>A						KCNS1_uc002xnd.2_Silent_p.F110F	p.F110F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			4	727	-		Myeloproliferative disorder(115;0.0122)	110			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	c.330C>T	CCDS13342.1																																																																																				0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3		NM_002251		11	11	0	0	0	0.024245	0	11	11		
ZNF335	63925	broad.mit.edu	37	20	44596540	44596540	+	Missense_Mutation	SNP	G	G	A	rs200963656	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:44596540G>A	ENST00000322927.2	-	5	747	c.647C>T	c.(646-648)cCg>cTg	p.P216L	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Missense_Mutation_p.P61L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	216					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGCTGCACCGGGGAGCTGGG	0.647													G|||	3	0.000599042	0.0	0.0	5008	,	,		18023	0.0		0.0	False		,,,				2504	0.0031					uc002xqw.2		NaN																	0				skin(3)|ovary(1)	4						c.(646-648)CCG>CTG		zinc finger protein 335		G	LEU/PRO	0,4406		0,0,2203	33.0	36.0	35.0		647	2.2	0.5	20		35	1,8597		0,1,4298	no	missense	ZNF335	NM_022095.3	98	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	216/1343	44596540	1,13003	2203	4299	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44596540G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.647C>T	20.37:g.44596540G>A	ENSP00000325326:p.Pro216Leu					ZNF335_uc010zxk.1_Missense_Mutation_p.P61L|ZNF335_uc002xqx.1_Missense_Mutation_p.P184L|ZNF335_uc002xqy.2_Missense_Mutation_p.P61L	p.P216L	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			5	770	-		Myeloproliferative disorder(115;0.0122)	216					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.647C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	4.768	0.142865	0.09083	0.0	1.16E-4	ENSG00000198026	ENST00000322927;ENST00000426788	T;T	0.09073	3.17;3.02	4.35	2.15	0.27550	.	0.502817	0.19129	N	0.121974	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35450	-0.9788	10	0.34782	T	0.22	-0.6216	3.5662	0.07900	0.2537:0.0:0.5594:0.1868	.	61;216	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	L	216;61	ENSP00000325326:P216L;ENSP00000397098:P61L	ENSP00000325326:P216L	P	-	2	0	ZNF335	44029947	0.577000	0.26708	0.473000	0.27253	0.108000	0.19459	1.176000	0.31957	0.873000	0.35799	0.561000	0.74099	CCG		0.647	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		36	121	0	0	0	0.021022	0	36	121		
PSMA7	5688	broad.mit.edu	37	20	60712444	60712444	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:60712444G>A	ENST00000370873.4	-	6	756	c.630C>T	c.(628-630)gtC>gtT	p.V210V	PSMA7_ENST00000370861.1_Silent_p.V140V|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	210					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCGCCTCATGACAGCAAGTT	0.463											OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ybx.1		NaN																	0					0						c.(628-630)GTC>GTT		proteasome alpha 7 subunit							223.0	171.0	189.0					20																	60712444		2203	4300	6503	SO:0001819	synonymous_variant	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60712444G>A	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.630C>T	20.37:g.60712444G>A			OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1048	PSMA7_uc002yby.1_RNA	p.V210V	NM_002792	NP_002783	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		6	745	-	Breast(26;3.97e-09)		210					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Silent	SNP	ENST00000370873.4	37	c.630C>T	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	.	8.537	0.872477	0.17322	.	.	ENSG00000101182	ENST00000442551	.	.	.	4.99	-0.376	0.12505	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	6.1224	0.20159	0.4823:0.1312:0.3865:0.0	.	.	.	.	L	149	.	.	S	-	2	0	PSMA7	60145839	0.655000	0.27376	0.854000	0.33618	0.898000	0.52572	-0.152000	0.10159	-0.064000	0.13043	-0.222000	0.12452	TCA		0.463	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1		NM_002792		125	75	0	0	0	0.01441	0	125	75		
TPTE	7179	broad.mit.edu	37	21	10934109	10934109	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:10934109A>C	ENST00000361285.4	-	16	1197	c.868T>G	c.(868-870)Tac>Gac	p.Y290D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Y252D|TPTE_ENST00000298232.7_Missense_Mutation_p.Y272D	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	290	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGGATCGTAAGCTCTTTCA	0.303																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(868-870)TAC>GAC		transmembrane phosphatase with tensin homology							151.0	153.0	152.0					21																	10934109		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934109A>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.868T>G	21.37:g.10934109A>C	ENSP00000355208:p.Tyr290Asp					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y272D|TPTE_uc002yir.1_Missense_Mutation_p.Y252D|TPTE_uc010gkv.1_Missense_Mutation_p.Y152D	p.Y290D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1236	-			290			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.868T>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483081	0.26598	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.30981	1.51;1.51;1.51	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.65481	0.2695	H	0.97940	4.11	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.71981	-0.4428	10	0.87932	D	0	-21.8778	8.0889	0.30788	1.0:0.0:0.0:0.0	.	252;272;290	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	D	272;290;252	ENSP00000298232:Y272D;ENSP00000355208:Y290D;ENSP00000344441:Y252D	ENSP00000298232:Y272D	Y	-	1	0	TPTE	9955980	1.000000	0.71417	0.985000	0.45067	0.072000	0.16883	7.036000	0.76524	1.204000	0.43247	0.163000	0.16589	TAC		0.303	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				14	74	0	0	0	0.024245	0	14	74		
TMPRSS2	7113	broad.mit.edu	37	21	42860419	42860419	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:42860419G>C	ENST00000332149.5	-	5	481	c.347C>G	c.(346-348)tCt>tGt	p.S116C	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S116C|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.S153C	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	116	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTCTATCCCAGAGTTGGAGCA	0.572			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NaN		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(346-348)TCT>TGT		transmembrane protease, serine 2 isoform 2							81.0	59.0	66.0					21																	42860419		2203	4300	6503	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42860419G>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.347C>G	21.37:g.42860419G>C	ENSP00000330330:p.Ser116Cys					TMPRSS2_uc010gor.2_Missense_Mutation_p.S153C|TMPRSS2_uc010gos.1_Missense_Mutation_p.S116C	p.S116C	NM_005656	NP_005647	O15393	TMPS2_HUMAN			5	481	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	116			Extracellular (Potential).|LDL-receptor class A.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.347C>G	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.605355	0.28623	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.52	3.62	0.41486	.	0.115668	0.39274	N	0.001408	T	0.43077	0.1231	L	0.33753	1.03	0.09310	N	0.999999	B;B	0.32893	0.389;0.079	B;B	0.28232	0.087;0.04	T	0.40979	-0.9534	10	0.66056	D	0.02	.	10.0982	0.42488	0.0:0.0:0.799:0.201	.	153;116	F8WES1;O15393	.;TMPS2_HUMAN	C	116;153;116;116	ENSP00000330330:S116C;ENSP00000381588:S153C;ENSP00000391216:S116C;ENSP00000389006:S116C	ENSP00000330330:S116C	S	-	2	0	TMPRSS2	41782289	0.145000	0.22656	0.007000	0.13788	0.003000	0.03518	2.824000	0.48088	1.002000	0.39104	0.650000	0.86243	TCT		0.572	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1				38	12	0	0	0	0.021022	0	38	12		
KLHL22	84861	broad.mit.edu	37	22	20812254	20812254	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20812254G>C	ENST00000328879.4	-	5	1302	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	KLHL22_ENST00000440659.2_Missense_Mutation_p.I239M	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	382					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGGACTGGATCTGGAACC	0.602																																						uc002zsl.1		NaN																	0				lung(1)	1						c.(1144-1146)ATC>ATG		kelch-like							126.0	85.0	99.0					22																	20812254		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20812254G>C		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1146C>G	22.37:g.20812254G>C	ENSP00000331682:p.Ile382Met					KLHL22_uc011ahr.1_Missense_Mutation_p.I239M|KLHL22_uc002zsm.1_Missense_Mutation_p.I382M	p.I382M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1255	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	382			Kelch 2.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1146C>G	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108702	0.56291	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.68025	-0.3;-0.3	4.17	4.17	0.49024	Kelch-type beta propeller (1);	0.108247	0.64402	D	0.000010	T	0.68439	0.3001	L	0.48174	1.505	0.46298	D	0.998978	D;D	0.55172	0.97;0.97	P;P	0.56474	0.799;0.725	T	0.67337	-0.5696	10	0.40728	T	0.16	.	9.2732	0.37684	0.0:0.0:0.785:0.215	.	239;382	B7Z2G1;Q53GT1	.;KLH22_HUMAN	M	382;239	ENSP00000331682:I382M;ENSP00000405521:I239M	ENSP00000331682:I382M	I	-	3	3	KLHL22	19142254	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.462000	0.45049	2.151000	0.67156	0.462000	0.41574	ATC		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2		NM_032775		24	46	0	0	0	0.013726	0	24	46		
MED15	51586	broad.mit.edu	37	22	20909319	20909319	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20909319G>A	ENST00000263205.7	+	5	404	c.335G>A	c.(334-336)gGg>gAg	p.G112E	MED15_ENST00000292733.7_Missense_Mutation_p.G112E|MED15_ENST00000406969.1_Missense_Mutation_p.G86E|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.G86E|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	112					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCTCTGGGCGGGATGGGTAGC	0.647																																						uc002zsp.2		NaN																	0				skin(1)	1						c.(334-336)GGG>GAG		mediator complex subunit 15 isoform a							39.0	40.0	40.0					22																	20909319		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909319G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.335G>A	22.37:g.20909319G>A	ENSP00000263205:p.Gly112Glu					MED15_uc002zsn.1_Missense_Mutation_p.G31E|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.G112E|MED15_uc010gso.2_Missense_Mutation_p.G112E|MED15_uc002zsr.2_Missense_Mutation_p.G86E|MED15_uc011ahs.1_Missense_Mutation_p.G86E|MED15_uc011aht.1_Missense_Mutation_p.G86E|MED15_uc002zss.2_Missense_Mutation_p.G31E	p.G112E	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		5	415	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	112					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.335G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870782	0.51695	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000451058;ENST00000457322;ENST00000424287	T;D	0.90620	-1.26;-2.7	5.59	3.47	0.39725	Mediator complex, subunit Med15, metazoa (1);	0.176460	0.50627	D	0.000120	D	0.87063	0.6084	M	0.64404	1.975	0.80722	D	1	B;B;B;B	0.12013	0.005;0.004;0.004;0.005	B;B;B;B	0.14578	0.011;0.006;0.006;0.011	T	0.82774	-0.0291	10	0.37606	T	0.19	.	8.7164	0.34414	0.0836:0.155:0.7614:0.0	.	131;86;112;112	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;MED15_HUMAN	E	86;86;112;112;86;86;86;86;86;73;65	ENSP00000263205:G112E;ENSP00000396461:G65E	ENSP00000263205:G112E	G	+	2	0	MED15	19239319	1.000000	0.71417	0.984000	0.44739	0.573000	0.36030	4.878000	0.63093	1.335000	0.45486	0.655000	0.94253	GGG		0.647	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889		3	58	0	0	0	0.009096	0	3	58		
DEPDC5	9681	broad.mit.edu	37	22	32275583	32275583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:32275583G>A	ENST00000382112.3	+	37	3921	c.3851G>A	c.(3850-3852)tGg>tAg	p.W1284*	DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.W1293*|DEPDC5_ENST00000539165.1_Nonsense_Mutation_p.W110*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.W1271*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.W1293*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.W1193*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.W1262*|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1179S|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.W1262*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1293					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCGCAAGTGGTTTGAGGTG	0.612																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(3784-3786)TGG>TAG		DEP domain containing 5 isoform 1							82.0	83.0	82.0					22																	32275583		2103	4220	6323	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32275583G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3851G>A	22.37:g.32275583G>A	ENSP00000371546:p.Trp1284*					DEPDC5_uc011als.1_Nonsense_Mutation_p.W1193*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1293*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1284*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W711*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W560*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W110*|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.W288*|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W110*	p.W1262*	NM_014662	NP_055477	O75140	DEPD5_HUMAN			37	3927	+			1262					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.3785G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	43|43	10.169282|10.169282	0.99351|0.99351	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000382105|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T|.	0.33438|.	1.41|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47210|.	0.1433|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37709|.	-0.9694|.	5|.	0.41790|0.02654	T|T	0.15|1	.|.	18.8724|18.8724	0.92320|0.92320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	1179|1193;1271;1262;1193;1293;1284;1293;1262;110	ENSP00000371539:G1179S|.	ENSP00000371539:G1179S|ENSP00000266091:W1271X	G|W	+|+	1|2	0|0	DEPDC5|DEPDC5	30605583|30605583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.383000|9.383000	0.97214|0.97214	2.704000|2.704000	0.92352|0.92352	0.651000|0.651000	0.88453|0.88453	GGT|TGG		0.612	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		71	35	0	0	0	0.01441	0	71	35		
TAMM41	132001	broad.mit.edu	37	3	11851124	11851124	+	Silent	SNP	C	C	T	rs140106641	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:11851124C>T	ENST00000444133.2	-	6	883	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TAMM41_ENST00000273037.5_Silent_p.Q247Q|TAMM41_ENST00000455809.1_Silent_p.Q247Q			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	247					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										ATGTCATCAGCTGAGTGAACT	0.398																																						uc003bwh.2		NaN																	0					0						c.(739-741)CAG>CAA		MMP37-like protein, mitochondrial precursor		C		0,4406		0,0,2203	141.0	137.0	138.0		741	4.6	1.0	3	dbSNP_134	138	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	TAMM41	NM_138807.2		0,10,6493	TT,TC,CC		0.1163,0.0,0.0769		247/317	11851124	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11851124C>T		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.741G>A	3.37:g.11851124C>T						C3orf31_uc003bwj.2_Silent_p.Q247Q|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Silent_p.Q247Q	p.Q247Q	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN			6	983	-			247					B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37	c.741G>A																																																																																					0.398	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2		NM_138807		18	24	0	0	0	0.027356	0	18	24		
ARPP21	10777	broad.mit.edu	37	3	35731587	35731587	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:35731587T>G	ENST00000187397.4	+	8	956	c.500T>G	c.(499-501)cTt>cGt	p.L167R	ARPP21_ENST00000458225.1_Missense_Mutation_p.L167R|ARPP21_ENST00000444190.1_Missense_Mutation_p.L167R|ARPP21_ENST00000417925.1_Missense_Mutation_p.L167R|ARPP21_ENST00000337271.5_Missense_Mutation_p.L167R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	167	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGATGATACTTTTGAAAATG	0.294																																						uc003cgb.2		NaN																	0				ovary(2)|skin(1)	3						c.(499-501)CTT>CGT		cyclic AMP-regulated phosphoprotein, 21 kD							97.0	96.0	96.0					3																	35731587		2202	4296	6498	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35731587T>G	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.500T>G	3.37:g.35731587T>G	ENSP00000187397:p.Leu167Arg					ARPP21_uc003cga.2_Missense_Mutation_p.L167R|ARPP21_uc011axy.1_Missense_Mutation_p.L167R|ARPP21_uc003cgf.2_Missense_Mutation_p.L3R	p.L167R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			8	764	+			167			R3H.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.500T>G	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913316	0.72983	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.73	5.73	0.89815	Single-stranded nucleic acid binding R3H (2);	0.073123	0.64402	D	0.000020	T	0.73481	0.3592	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.999	T	0.78778	-0.2071	10	0.87932	D	0	-14.0939	16.3123	0.82883	0.0:0.0:0.0:1.0	.	167;167;167	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	R	167	ENSP00000414351:L167R;ENSP00000337792:L167R;ENSP00000405276:L167R;ENSP00000187397:L167R;ENSP00000412326:L167R	ENSP00000187397:L167R	L	+	2	0	ARPP21	35706591	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.963000	0.87922	2.308000	0.77769	0.533000	0.62120	CTT		0.294	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2		NM_198399		9	21	0	0	0	0.004482	0	9	21		
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416|rs121913403		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(109-111)TCT>TGT		beta-catenin	Lithium(DB01356)						93.0	78.0	83.0					3																	41266113		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266113C>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>G	3.37:g.41266113C>G	ENSP00000344456:p.Ser37Cys					CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.S37C	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	266	+			37		S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.110C>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407996	0.83340	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	C	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30C;ENSP00000385604:S37C;ENSP00000412219:S37C;ENSP00000379486:S37C;ENSP00000344456:S37C;ENSP00000411226:S30C;ENSP00000379488:S37C;ENSP00000409302:S37C;ENSP00000401599:S37C	ENSP00000344456:S37C	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2		NM_001098210		19	20	0	0	0	0.008871	0	19	20		
MAP4	4134	broad.mit.edu	37	3	47913544	47913544	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:47913544T>A	ENST00000360240.6	-	11	2887	c.2369A>T	c.(2368-2370)aAg>aTg	p.K790M	MAP4_ENST00000264724.11_Missense_Mutation_p.K525M|MAP4_ENST00000395734.3_Missense_Mutation_p.K790M|MAP4_ENST00000420772.2_Missense_Mutation_p.K541M|MAP4_ENST00000426837.2_Missense_Mutation_p.K1935M|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000383737.4_Missense_Mutation_p.K518M|MAP4_ENST00000441748.2_De_novo_Start_InFrame	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	790					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AGAAGCTGGCTTGGATGGTGA	0.562																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2368-2370)AAG>ATG		microtubule-associated protein 4 isoform 1							141.0	145.0	144.0					3																	47913544		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47913544T>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2369A>T	3.37:g.47913544T>A	ENSP00000353375:p.Lys790Met					MAP4_uc003csc.3_Missense_Mutation_p.K790M|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K50M|MAP4_uc011bbe.1_Missense_Mutation_p.K541M|MAP4_uc003cry.2_Missense_Mutation_p.K525M|MAP4_uc003csa.3_Missense_Mutation_p.K525M|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.K525M	p.K790M	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	11	2895	-			790					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.2369A>T	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.82|16.82	3.228559|3.228559	0.58777|0.58777	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000383736|ENST00000429422	T;T;T;T;T;T;T|.	0.35789|.	2.82;1.29;2.97;3.04;2.95;2.03;1.99|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|.	.|.	.|.	.|.	T|T	0.63153|0.63153	0.2487|0.2487	M|M	0.71581|0.71581	2.175|2.175	0.32307|0.32307	N|N	0.564261|0.564261	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.999;0.998;0.995|.	T|T	0.71708|0.71708	-0.4511|-0.4511	9|5	0.87932|.	D|.	0|.	-16.3201|-16.3201	12.2232|12.2232	0.54445|0.54445	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	541;525;790;790;525;518|.	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1|.	.;.;.;MAP4_HUMAN;.;.|.	M|H	518;525;790;1935;790;541;156;525|200	ENSP00000373243:K518M;ENSP00000264724:K525M;ENSP00000379083:K790M;ENSP00000407602:K1935M;ENSP00000353375:K790M;ENSP00000409731:K541M;ENSP00000334770:K156M|.	ENSP00000264724:K525M|.	K|Q	-|-	2|3	0|2	MAP4|MAP4	47888548|47888548	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.282000|0.282000	0.26991|0.26991	4.802000|4.802000	0.62539|0.62539	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.562	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		98	150	0	0	0	0.01441	0	98	150		
DUSP7	1849	broad.mit.edu	37	3	52090150	52090150	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52090150C>A	ENST00000495880.1	-	1	416	c.233G>T	c.(232-234)cGg>cTg	p.R78L	DUSP7_ENST00000296483.6_Missense_Mutation_p.R27L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	78	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCGTGCGGCCGGCAGTCGAG	0.716																																						uc003dct.2		NaN																	0				ovary(1)	1						c.(232-234)CGG>CTG		dual specificity phosphatase 7							14.0	15.0	15.0					3																	52090150		2196	4291	6487	SO:0001583	missense	1849				inactivation 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|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52090150C>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.233G>T	3.37:g.52090150C>A	ENSP00000417183:p.Arg78Leu					DUSP7_uc010hma.2_Missense_Mutation_p.R78L	p.R78L	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	312	-			78			Rhodanese.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.233G>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	33	5.196521	0.94960	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.80824	-1.42;-1.42;-1.42	4.44	3.57	0.40892	Rhodanese-like (5);	0.000000	0.64402	D	0.000001	D	0.86838	0.6029	M	0.62209	1.925	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.967;0.992	D	0.87173	0.2222	10	0.87932	D	0	.	12.0383	0.53438	0.0:0.9143:0.0:0.0857	.	27;78	Q16829-2;Q16829	.;DUS7_HUMAN	L	78;27;11	ENSP00000417183:R78L;ENSP00000296483:R27L;ENSP00000418566:R11L	ENSP00000296483:R27L	R	-	2	0	DUSP7	52065190	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.336000	0.79245	0.879000	0.35944	0.655000	0.94253	CGG		0.716	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1		NM_001947		4	15	1	0	2.0095e-06	0.001984	2.06774e-06	4	15		
POC1A	25886	broad.mit.edu	37	3	52179937	52179937	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52179937T>C	ENST00000296484.2	-	6	643	c.604A>G	c.(604-606)Att>Gtt	p.I202V	POC1A_ENST00000394970.2_Missense_Mutation_p.I202V|POC1A_ENST00000474012.1_Missense_Mutation_p.I164V	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	202					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCAGCGGCAATGCACGTCCCA	0.592																																						uc003dcu.2		NaN																	0					0						c.(604-606)ATT>GTT		WD repeat domain 51A isoform 1							100.0	75.0	83.0					3																	52179937		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52179937T>C	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.604A>G	3.37:g.52179937T>C	ENSP00000296484:p.Ile202Val					POC1A_uc003dcv.2_Missense_Mutation_p.I164V|POC1A_uc003dcw.2_Missense_Mutation_p.I202V	p.I202V	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN			6	922	-			202			WD 5.		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.604A>G	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136532	0.37728	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.61392	0.11;0.11;0.11	5.29	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.050474	0.85682	N	0.000000	T	0.44307	0.1287	N	0.25890	0.77	0.52099	D	0.999947	B;B	0.17852	0.005;0.024	B;B	0.24974	0.034;0.057	T	0.26677	-1.0096	10	0.38643	T	0.18	.	10.5494	0.45079	0.0:0.0769:0.0:0.9231	.	202;202	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	V	202;202;164	ENSP00000296484:I202V;ENSP00000378421:I202V;ENSP00000418968:I164V	ENSP00000296484:I202V	I	-	1	0	POC1A	52154977	1.000000	0.71417	0.927000	0.36925	0.927000	0.56198	3.467000	0.53078	0.861000	0.35504	0.460000	0.39030	ATT		0.592	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1		NM_015426		28	52	0	0	0	0.015359	0	28	52		
TLR9	54106	broad.mit.edu	37	3	52256622	52256622	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52256622G>A	ENST00000360658.2	-	2	2343	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	TLR9_ENST00000597542.1_Silent_p.F594F|TLR9_ENST00000494383.1_Missense_Mutation_p.R724C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	570					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGTGAGCCACGAAGCTGAAGT	0.642																																						uc003dda.1		NaN																	0				large_intestine(2)|skin(2)	4						c.(1708-1710)TTC>TTT		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						52.0	45.0	47.0					3																	52256622		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256622G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1710C>T	3.37:g.52256622G>A						TLR9_uc003ddb.2_Silent_p.F667F	p.F570F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	2344	-			570			LRR 18.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Silent	SNP	ENST00000360658.2	37	c.1710C>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732007	0.15507	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.54	-4.56	0.03431	.	.	.	.	.	T	0.66587	0.2804	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68187	-0.5475	4	.	.	.	.	17.4331	0.87544	0.1698:0.0:0.8302:0.0	.	.	.	.	C	724	.	.	R	-	1	0	RP11-330H6.5	52231662	0.000000	0.05858	0.983000	0.44433	0.975000	0.68041	-0.598000	0.05706	-0.693000	0.05121	-0.367000	0.07326	CGT		0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1				24	23	0	0	0	0.01892	0	24	23		
TMEM110	375346	broad.mit.edu	37	3	52883817	52883817	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52883817C>A	ENST00000355083.5	-	4	563	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.G140C	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	140						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CCATATTCGCCGAAGCGCAGG	0.627																																						uc003dge.2		NaN																	0				large_intestine(1)	1						c.(418-420)GGC>TGC		transmembrane protein 110							54.0	47.0	49.0					3																	52883817		2203	4300	6503	SO:0001583	missense	375346					integral to membrane		g.chr3:52883817C>A	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.418G>T	3.37:g.52883817C>A	ENSP00000347195:p.Gly140Cys					TMEM110_uc003dgc.3_Missense_Mutation_p.G140C	p.G140C	NM_198563	NP_940965	Q86TL2	TM110_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	4	499	-			140						Missense_Mutation	SNP	ENST00000355083.5	37	c.418G>T	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557271	0.86231	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	U	0.000000	D	0.85097	0.5619	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88723	0.3231	9	0.87932	D	0	-1.3954	17.6363	0.88123	0.0:1.0:0.0:0.0	.	140;140	Q86TL2;A8MSY1	TM110_HUMAN;.	C	140	.	ENSP00000347195:G140C	G	-	1	0	TMEM110-MUSTN1;TMEM110	52858857	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.583000	0.82559	2.461000	0.83175	0.561000	0.74099	GGC		0.627	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2		NM_198563		58	14	1	0	9.4991e-31	0.01441	1.0621e-30	58	14		
HESX1	8820	broad.mit.edu	37	3	57232284	57232284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:57232284G>T	ENST00000295934.3	-	4	535	c.499C>A	c.(499-501)Cat>Aat	p.H167N	HESX1_ENST00000473921.1_Missense_Mutation_p.H133N	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	167					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATTCTCTATGGGACCTTTTC	0.299																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	uc003din.3		NaN																	0				ovary(1)	1						c.(499-501)CAT>AAT		HESX homeobox 1							69.0	67.0	68.0					3																	57232284		2202	4298	6500	SO:0001583	missense	8820					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:57232284G>T	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.499C>A	3.37:g.57232284G>T	ENSP00000295934:p.His167Asn						p.H167N	NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)	4	833	-			167			Homeobox.		Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	c.499C>A	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686269	0.47991	.	.	ENSG00000163666	ENST00000295934;ENST00000473921	D;D	0.95342	-3.68;-3.4	5.25	5.25	0.73442	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.058524	0.64402	D	0.000003	D	0.88695	0.6506	N	0.05619	-0.005	0.39357	D	0.965856	P	0.40398	0.716	B	0.38842	0.283	D	0.90086	0.4174	10	0.46703	T	0.11	-15.7771	19.2174	0.93783	0.0:0.0:1.0:0.0	.	167	Q9UBX0	HESX1_HUMAN	N	167;133	ENSP00000295934:H167N;ENSP00000418918:H133N	ENSP00000295934:H167N	H	-	1	0	HESX1	57207324	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.806000	0.62569	2.619000	0.88677	0.484000	0.47621	CAT		0.299	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2				3	21	1	0	0.00024832	0.009096	0.000251867	3	21		
FLNB	2317	broad.mit.edu	37	3	58062849	58062849	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:58062849C>T	ENST00000295956.4	+	2	534	c.369C>T	c.(367-369)atC>atT	p.I123I	FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000357272.4_Silent_p.I123I|FLNB_ENST00000348383.5_Silent_p.I123I|FLNB_ENST00000429972.2_Silent_p.I123I|FLNB_ENST00000358537.3_Silent_p.I123I|FLNB_ENST00000490882.1_Silent_p.I123I|FLNB_ENST00000419752.2_5'Flank	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	123	Actin-binding.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACTACTCCATCTCCATGCCCG	0.552																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(367-369)ATC>ATT		filamin B isoform 2							119.0	110.0	113.0					3																	58062849		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58062849C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.369C>T	3.37:g.58062849C>T						FLNB_uc010hne.2_Silent_p.I123I|FLNB_uc003djk.2_Silent_p.I123I|FLNB_uc010hnf.2_Silent_p.I123I|FLNB_uc003djl.2_5'Flank|FLNB_uc003djm.2_5'Flank	p.I123I	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	2	534	+			123			Actin-binding.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.369C>T	CCDS2885.1																																																																																				0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		37	60	0	0	0	0.007835	0	37	60		
EOGT	285203	broad.mit.edu	37	3	69031975	69031975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:69031975C>T	ENST00000383701.3	-	15	1943	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	EOGT_ENST00000295571.5_Missense_Mutation_p.D317N|EOGT_ENST00000540764.1_Missense_Mutation_p.D300N|EOGT_ENST00000540955.1_Missense_Mutation_p.D125N	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	401					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TACTTGTAATCAACAATCTGG	0.388																																						uc003dnl.2		NaN																	0				ovary(1)	1						c.(1201-1203)GAT>AAT		AER61 glycosyltransferase							107.0	95.0	99.0					3																	69031975		2202	4299	6501	SO:0001583	missense	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69031975C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1201G>A	3.37:g.69031975C>T	ENSP00000373206:p.Asp401Asn					C3orf64_uc003dnj.2_Missense_Mutation_p.D80N|C3orf64_uc003dnk.2_Missense_Mutation_p.D317N|C3orf64_uc011bfw.1_RNA	p.D401N	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	15	1606	-		Lung NSC(201;0.126)	401					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.1201G>A		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644691	0.67358	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540955;ENST00000540764	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.83953	2.67	0.80722	D	1	P;P	0.39480	0.524;0.675	B;B	0.42112	0.376;0.19	T	0.72701	-0.4214	9	0.52906	T	0.07	.	14.0626	0.64808	0.0:0.9281:0.0:0.0719	.	401;317	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	N	401;317;125;300	.	ENSP00000295571:D317N	D	-	1	0	C3orf64	69114665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.285000	0.65633	2.686000	0.91538	0.585000	0.79938	GAT		0.388	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1		NM_173654		6	17	0	0	0	0.00308	0	6	17		
OR5AC2	81050	broad.mit.edu	37	3	97806241	97806241	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:97806241T>G	ENST00000358642.2	+	1	225	c.225T>G	c.(223-225)acT>acG	p.T75T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATGCTTGTACTTCAACCTCTA	0.428																																						uc011bgs.1		NaN																	0				skin(1)	1						c.(223-225)ACT>ACG		olfactory receptor, family 5, subfamily AC,							240.0	231.0	234.0					3																	97806241		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806241T>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.225T>G	3.37:g.97806241T>G							p.T75T	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	225	+			75			Helical; Name=2; (Potential).			Silent	SNP	ENST00000358642.2	37	c.225T>G	CCDS33796.1																																																																																				0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1				46	125	0	0	0	0.01441	0	46	125		
ALCAM	214	broad.mit.edu	37	3	105269058	105269058	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:105269058G>A	ENST00000306107.5	+	12	1962	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	ALCAM_ENST00000486979.2_Missense_Mutation_p.E437K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E488K|ALCAM_ENST00000389927.4_Missense_Mutation_p.E210K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	488	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGCACAGCAGAAAACCAACT	0.333																																						uc003dvx.2		NaN																	0				ovary(2)|breast(1)	3						c.(1462-1464)GAA>AAA		activated leukocyte cell adhesion molecule							85.0	102.0	96.0					3																	105269058		2202	4297	6499	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105269058G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1462G>A	3.37:g.105269058G>A	ENSP00000305988:p.Glu488Lys					ALCAM_uc003dvw.1_Missense_Mutation_p.E488K|ALCAM_uc003dvy.2_Missense_Mutation_p.E488K|ALCAM_uc010hpp.2_Missense_Mutation_p.E210K|ALCAM_uc003dvz.2_Missense_Mutation_p.E122K	p.E488K	NM_001627	NP_001618	Q13740	CD166_HUMAN			12	2002	+			488			Extracellular (Potential).|Ig-like C2-type 3.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1462G>A	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725649|4.725649	0.89298|0.89298	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.11930|.	4.08;4.08;4.08;2.73|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.332876|.	0.36101|.	N|.	0.002789|.	T|T	0.67211|0.67211	0.2869|0.2869	L|L	0.38175|0.38175	1.15|1.15	0.54753|0.54753	D|D	0.999983|0.999983	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.83275|.	0.995;0.996;0.996|.	T|T	0.59526|0.59526	-0.7438|-0.7438	10|5	0.34782|.	T|.	0.22|.	-25.2942|-25.2942	20.5752|20.5752	0.99366|0.99366	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	210;488;488|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	K|K	488;488;437;210|248	ENSP00000305988:E488K;ENSP00000419236:E488K;ENSP00000418213:E437K;ENSP00000374577:E210K|.	ENSP00000305988:E488K|.	E|R	+|+	1|2	0|0	ALCAM|ALCAM	106751748|106751748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.400000|6.400000	0.73252|0.73252	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.333	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		NM_001627		25	19	0	0	0	0.027356	0	25	19		
ACPP	55	broad.mit.edu	37	3	132056364	132056364	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:132056364C>T	ENST00000336375.5	+	5	611	c.521C>T	c.(520-522)tCa>tTa	p.S174L	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.S174L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	174					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTTTGAAATCAGAGGAATTC	0.398																																						uc010htp.2		NaN																	0				ovary(1)	1						c.(520-522)TCA>TTA		acid phosphatase, prostate short isoform							108.0	98.0	101.0					3																	132056364		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132056364C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.521C>T	3.37:g.132056364C>T	ENSP00000337471:p.Ser174Leu					ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Missense_Mutation_p.S174L	p.S174L	NM_001099	NP_001090	P15309	PPAP_HUMAN			5	611	+			174					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.521C>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619070	0.66787	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000351273	T;T;T	0.30981	1.51;1.51;1.51	5.79	5.79	0.91817	.	0.100986	0.44688	D	0.000421	T	0.53867	0.1823	L	0.58925	1.835	0.50813	D	0.999891	D;D	0.71674	0.998;0.997	D;D	0.72625	0.978;0.962	T	0.50110	-0.8866	10	0.56958	D	0.05	.	18.8025	0.92023	0.0:1.0:0.0:0.0	.	174;174	P15309;P15309-2	PPAP_HUMAN;.	L	174;145;174	ENSP00000337471:S174L;ENSP00000418366:S145L;ENSP00000323036:S174L	ENSP00000337471:S174L	S	+	2	0	ACPP	133539054	0.683000	0.27633	0.080000	0.20451	0.281000	0.26958	5.709000	0.68384	2.735000	0.93741	0.655000	0.94253	TCA		0.398	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099		53	10	0	0	0	0.01441	0	53	10		
ETV5	2119	broad.mit.edu	37	3	185766491	185766491	+	Silent	SNP	G	G	A	rs151057501		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:185766491G>A	ENST00000306376.5	-	13	1716	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Silent_p.P532P|ETV5_ENST00000434744.1_Silent_p.P490P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	490					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGAGGTAAGCGGGGCTGTCTT	0.597			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2		NaN		Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		0				ovary(2)|skin(2)|breast(1)	5						c.(1468-1470)CCC>CCT		ets variant gene 5 (ets-related molecule)		G		0,4406		0,0,2203	83.0	79.0	80.0		1470	-11.8	0.6	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ETV5	NM_004454.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		490/511	185766491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766491G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1470C>T	3.37:g.185766491G>A						ETV5_uc003fpy.2_Silent_p.P532P	p.P490P	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1717	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		490					A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	c.1470C>T	CCDS33906.1																																																																																				0.597	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1		NM_004454		33	70	0	0	0	0.023175	0	33	70		
ATP13A3	79572	broad.mit.edu	37	3	194147857	194147857	+	Silent	SNP	A	A	C	rs201703070	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:194147857A>C	ENST00000439040.1	-	29	3863	c.3072T>G	c.(3070-3072)ggT>ggG	p.G1024G	ATP13A3_ENST00000256031.4_Silent_p.G1024G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G1024G(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCCAAAAAAAACCCAAAGATT	0.388													A|||	2	0.000399361	0.0	0.0014	5008	,	,		14951	0.001		0.0	False		,,,				2504	0.0					uc003fty.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3070-3072)GGT>GGG		ATPase type 13A3							67.0	66.0	66.0					3																	194147857		1814	4083	5897	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147857A>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3072T>G	3.37:g.194147857A>C						ATP13A3_uc003ftx.3_5'Flank	p.G1024G	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	28	3474	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1024					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3072T>G	CCDS43187.1																																																																																				0.388	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524		40	10	0	0	0	0.013114	0	40	10		
PROM1	8842	broad.mit.edu	37	4	16077403	16077403	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:16077403T>G	ENST00000510224.1	-	2	375	c.127A>C	c.(127-129)Acc>Ccc	p.T43P	PROM1_ENST00000505450.1_Missense_Mutation_p.T43P|PROM1_ENST00000540805.1_Missense_Mutation_p.T43P|PROM1_ENST00000447510.2_Missense_Mutation_p.T43P|PROM1_ENST00000508167.1_Missense_Mutation_p.T43P|PROM1_ENST00000539194.1_Missense_Mutation_p.T43P|PROM1_ENST00000543373.1_Missense_Mutation_p.T43P			O43490	PROM1_HUMAN	prominin 1	43					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GAGTCTTGGGTCTCATAATTT	0.488																																						uc003goo.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(127-129)ACC>CCC		prominin 1 isoform 1							72.0	71.0	71.0					4																	16077403		1933	4152	6085	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16077403T>G	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.127A>C	4.37:g.16077403T>G	ENSP00000426809:p.Thr43Pro					PROM1_uc003gor.2_Missense_Mutation_p.T43P|PROM1_uc003gos.2_Missense_Mutation_p.T43P|PROM1_uc003got.2_Missense_Mutation_p.T43P|PROM1_uc003gou.2_Missense_Mutation_p.T43P|PROM1_uc003gop.2_Missense_Mutation_p.T43P|PROM1_uc003goq.3_Missense_Mutation_p.T43P|PROM1_uc010iec.1_5'UTR	p.T43P	NM_006017	NP_006008	O43490	PROM1_HUMAN			1	339	-			43			Extracellular (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.127A>C	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422923	0.43020	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373;ENST00000508322	T;T;T;T;T;T;T;T	0.58060	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.36	5.62	4.44	0.53790	.	0.116052	0.56097	D	0.000023	T	0.65749	0.2721	M	0.64567	1.98	0.40529	D	0.980911	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.997;0.997;0.997;0.97;0.998	T	0.64300	-0.6440	10	0.36615	T	0.2	-21.202	9.2565	0.37586	0.0:0.0826:0.0:0.9174	.	43;43;43;43;43;43	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	P	43	ENSP00000415481:T43P;ENSP00000438045:T43P;ENSP00000443620:T43P;ENSP00000426090:T43P;ENSP00000427346:T43P;ENSP00000426809:T43P;ENSP00000445526:T43P;ENSP00000425927:T43P	ENSP00000415481:T43P	T	-	1	0	PROM1	15686501	1.000000	0.71417	0.356000	0.25785	0.177000	0.22998	3.088000	0.50175	0.964000	0.38108	0.528000	0.53228	ACC		0.488	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2		NM_006017		17	0	0	0	0	0.007413	0	17	0		
PPARGC1A	10891	broad.mit.edu	37	4	23815314	23815314	+	Splice_Site	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:23815314T>G	ENST00000264867.2	-	8	1911	c.1792A>C	c.(1792-1794)Aga>Cga	p.R598R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	598	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAGGTTTACCTTGAAGAGGAT	0.403																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NaN																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1792-1794)AGA>CGA		peroxisome proliferator-activated receptor							60.0	60.0	60.0					4																	23815314		2203	4300	6503	SO:0001630	splice_region_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815314T>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1793+1A>C	4.37:g.23815314T>G						PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.R598R	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1912	-		Breast(46;0.0503)	598			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1792A>C	CCDS3429.1																																																																																				0.403	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1		NM_013261	Silent	11	22	0	0	0	0.028581	0	11	22		
RBM47	54502	broad.mit.edu	37	4	40438583	40438583	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40438583G>A	ENST00000381793.2	-	4	1601	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	RBM47_ENST00000295971.7_Missense_Mutation_p.S402F|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.S364F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	402					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACGACCAGCAGAATATCCCCC	0.507																																						uc003gvc.2		NaN																	0				breast(3)	3						c.(1204-1206)TCT>TTT		RNA binding motif protein 47 isoform a							181.0	175.0	177.0					4																	40438583		1875	4104	5979	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40438583G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1205C>T	4.37:g.40438583G>A	ENSP00000371212:p.Ser402Phe					RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.S364F	p.S402F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			5	1915	-			402					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1205C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624339	0.87560	.	.	ENSG00000163694	ENST00000381793;ENST00000295971;ENST00000514014	T;T;T	0.18502	2.21;2.21;2.22	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.60455	1.87	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	T	0.10800	-1.0614	10	0.54805	T	0.06	-10.3716	18.5744	0.91149	0.0:0.0:1.0:0.0	.	402	A0AV96	RBM47_HUMAN	F	402;402;364	ENSP00000371212:S402F;ENSP00000295971:S402F;ENSP00000423243:S364F	ENSP00000295971:S402F	S	-	2	0	RBM47	40133340	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.356000	0.97091	2.395000	0.81488	0.313000	0.20887	TCT		0.507	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027		79	171	0	0	0	0.01441	0	79	171		
RBM47	54502	broad.mit.edu	37	4	40440104	40440104	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40440104G>A	ENST00000381793.2	-	3	1203	c.807C>T	c.(805-807)ttC>ttT	p.F269F	RBM47_ENST00000295971.7_Silent_p.F269F|RBM47_ENST00000381795.6_Silent_p.F269F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.F269F|RBM47_ENST00000514014.1_Silent_p.F231F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	269	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCCGGGGTTGAACTGGCCGA	0.592																																						uc003gvc.2		NaN																	0				breast(3)	3						c.(805-807)TTC>TTT		RNA binding motif protein 47 isoform a							80.0	74.0	76.0					4																	40440104		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440104G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.807C>T	4.37:g.40440104G>A						RBM47_uc003gvd.2_Silent_p.F269F|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.F231F|RBM47_uc003gvg.1_Silent_p.F269F	p.F269F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1517	-			269			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.807C>T	CCDS43223.1																																																																																				0.592	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027		41	52	0	0	0	0.009718	0	41	52		
KIT	3815	broad.mit.edu	37	4	55564535	55564535	+	Silent	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:55564535A>T	ENST00000288135.5	+	3	520	c.423A>T	c.(421-423)ccA>ccT	p.P141P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	141	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACAGACCCAGAAGTGACCA	0.512		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(421-423)CCA>CCT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						50.0	50.0	50.0					4																	55564535		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55564535A>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.423A>T	4.37:g.55564535A>T						KIT_uc010igs.2_Silent_p.P141P	p.P141P	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	3	510	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		141			Extracellular (Potential).|Ig-like C2-type 2.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.423A>T	CCDS3496.1																																																																																				0.512	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1				12	29	0	0	0	0.024245	0	12	29		
KIAA1211	57482	broad.mit.edu	37	4	57181275	57181275	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:57181275C>T	ENST00000504228.1	+	6	1712	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P529L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P536L			Q6ZU35	K1211_HUMAN	KIAA1211	536										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATGCCCCGGCCCTACACGTTC	0.642																																						uc003hbk.2		NaN																	0				ovary(1)|skin(1)	2						c.(1606-1608)CCC>CTC		hypothetical protein LOC57482							15.0	21.0	19.0					4																	57181275		2063	4192	6255	SO:0001583	missense	57482							g.chr4:57181275C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1607C>T	4.37:g.57181275C>T	ENSP00000423366:p.Pro536Leu					KIAA1211_uc010iha.2_Missense_Mutation_p.P529L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P446L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P422L	p.P536L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1998	+	Glioma(25;0.08)|all_neural(26;0.101)		536					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1607C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464979	0.84425	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02158	4.42;4.42;4.42	4.86	4.86	0.63082	.	.	.	.	.	T	0.11410	0.0278	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.982	T	0.00299	-1.1836	9	0.87932	D	0	-5.7153	14.4853	0.67614	0.0:0.8523:0.1476:0.0	.	529;529;536	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	L	536;536;529;446	ENSP00000264229:P536L;ENSP00000423366:P536L;ENSP00000444006:P529L	ENSP00000264229:P536L	P	+	2	0	KIAA1211	56876032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.595000	0.67563	2.229000	0.72834	0.561000	0.74099	CCC		0.642	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2		NM_020722		15	6	0	0	0	0.008871	0	15	6		
DSPP	1834	broad.mit.edu	37	4	88534106	88534106	+	Silent	SNP	C	C	T	rs374400491		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:88534106C>T	ENST00000282478.7	+	3	801	c.768C>T	c.(766-768)gaC>gaT	p.D256D	DSPP_ENST00000399271.1_Silent_p.D256D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	256					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGATGAAGACGAGGGTTCTG	0.507																																						uc003hqu.2		NaN																	0				central_nervous_system(1)	1						c.(766-768)GAC>GAT		dentin sialophosphoprotein preproprotein		C		6,4112		0,6,2053	121.0	134.0	130.0		768	1.5	0.9	4		130	0,8392		0,0,4196	no	coding-synonymous	DSPP	NM_014208.3		0,6,6249	TT,TC,CC		0.0,0.1457,0.048		256/1302	88534106	6,12504	2059	4196	6255	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534106C>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.768C>T	4.37:g.88534106C>T							p.D256D	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	888	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	256					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.768C>T	CCDS43248.1																																																																																				0.507	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3		NM_014208		13	27	0	0	0	0.024245	0	13	27		
PRDM5	11107	broad.mit.edu	37	4	121616352	121616352	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:121616352C>T	ENST00000264808.3	-	16	2047	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.E572K|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	603					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACTGGCATTCTGCCAGGGGA	0.428																																						uc003idn.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1807-1809)GAA>AAA		PR domain containing 5							128.0	125.0	126.0					4																	121616352		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121616352C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1807G>A	4.37:g.121616352C>T	ENSP00000264808:p.Glu603Lys					PRDM5_uc003ido.2_Missense_Mutation_p.E572K|PRDM5_uc010ine.2_3'UTR	p.E603K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			16	2057	-			603			C2H2-type 16.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1807G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866151	0.91511	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.48522	0.81;3.2	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	N	0.10782	0.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.50423	-0.8830	10	0.20519	T	0.43	-30.9511	19.6358	0.95733	0.0:1.0:0.0:0.0	.	572;603	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	K	603;572	ENSP00000264808:E603K;ENSP00000404832:E572K	ENSP00000264808:E603K	E	-	1	0	PRDM5	121835802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.378000	0.79679	2.636000	0.89361	0.655000	0.94253	GAA		0.428	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2				24	37	0	0	0	0.024334	0	24	37		
FSTL5	56884	broad.mit.edu	37	4	162421208	162421208	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:162421208T>C	ENST00000306100.5	-	12	1854	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q472R|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q472R|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q463R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	473						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTGCCTCTGAAATTCACA	0.338																																						uc003iqh.2		NaN																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1417-1419)CAG>CGG		follistatin-like 5 isoform a							111.0	104.0	107.0					4																	162421208		2202	4300	6502	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162421208T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1418A>G	4.37:g.162421208T>C	ENSP00000305334:p.Gln473Arg					FSTL5_uc003iqi.2_Missense_Mutation_p.Q472R|FSTL5_uc010iqv.2_Missense_Mutation_p.Q463R	p.Q473R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	12	1854	-	all_hematologic(180;0.24)		473					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1418A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421090	0.25639	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72051	-0.57;-0.55;-0.62;-0.55	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	N	0.03948	-0.315	0.58432	D	0.999998	D;B;B	0.59357	0.985;0.274;0.296	P;B;B	0.50537	0.643;0.084;0.074	T	0.55509	-0.8130	10	0.11182	T	0.66	.	14.3565	0.66740	0.0:0.0:0.0:1.0	.	463;472;473	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	473;472;463;472	ENSP00000305334:Q473R;ENSP00000368462:Q472R;ENSP00000389270:Q463R;ENSP00000440409:Q472R	ENSP00000305334:Q473R	Q	-	2	0	FSTL5	162640658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.122000	0.65172	0.460000	0.39030	CAG		0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116		7	2	0	0	0	0.00308	0	7	2		
IRX2	153572	broad.mit.edu	37	5	2749625	2749625	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:2749625T>C	ENST00000382611.6	-	2	774	c.526A>G	c.(526-528)Aac>Gac	p.N176D	C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.N176D|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTCATCTTGTTCTCCTTCTTG	0.597																																						uc003jda.2		NaN																	0				skin(1)	1						c.(526-528)AAC>GAC		iroquois homeobox 2							135.0	129.0	131.0					5																	2749625		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749625T>C	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.526A>G	5.37:g.2749625T>C	ENSP00000372056:p.Asn176Asp					C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.N176D	p.N176D	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	768	-			176					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.526A>G	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	T	34	5.325469	0.95708	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83837	-1.77;-1.77;-1.77	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.91576	0.5275	10	0.66056	D	0.02	-33.4593	14.441	0.67318	0.0:0.0:0.0:1.0	.	176	Q9BZI1	IRX2_HUMAN	D	176;176;83	ENSP00000372056:N176D;ENSP00000307006:N176D;ENSP00000426151:N83D	ENSP00000307006:N176D	N	-	1	0	IRX2	2802625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	1.817000	0.53016	0.533000	0.62120	AAC		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2				31	91	0	0	0	0.025465	0	31	91		
TRIO	7204	broad.mit.edu	37	5	14507245	14507245	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:14507245G>A	ENST00000344204.4	+	56	8651	c.8627G>A	c.(8626-8628)cGc>cAc	p.R2876H	TRIO_ENST00000537187.1_Missense_Mutation_p.R2700H|TRIO_ENST00000344135.5_Missense_Mutation_p.R375H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACCAGGGTCGCCTCCTGGAC	0.567																																						uc003jff.2		NaN																	0		p.R2876C(2)		skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(8626-8628)CGC>CAC		triple functional domain (PTPRF interacting)							55.0	53.0	54.0					5																	14507245		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14507245G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8627G>A	5.37:g.14507245G>A	ENSP00000339299:p.Arg2876His					TRIO_uc003jfg.2_RNA	p.R2876H	NM_007118	NP_009049	O75962	TRIO_HUMAN			56	8633	+	Lung NSC(4;0.000742)		2876			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8627G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372288	0.95923	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.39229	1.09;1.09;1.09	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	N	0.17082	0.46	0.41268	D	0.986822	D	0.89917	1.0	D	0.87578	0.998	T	0.58434	-0.7637	10	0.66056	D	0.02	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	2876	O75962	TRIO_HUMAN	H	2876;2700;375	ENSP00000339299:R2876H;ENSP00000446348:R2700H;ENSP00000339291:R375H	ENSP00000339291:R375H	R	+	2	0	TRIO	14560245	1.000000	0.71417	0.949000	0.38748	0.916000	0.54674	9.835000	0.99442	2.643000	0.89663	0.655000	0.94253	CGC		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		15	53	0	0	0	0.00499	0	15	53		
FBXL7	23194	broad.mit.edu	37	5	15500819	15500819	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:15500819G>A	ENST00000504595.1	+	1	515	c.34G>A	c.(34-36)Gag>Aag	p.E12K	FBXL7_ENST00000510662.1_5'Flank	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	12					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GTACGGCAGTGAGGGTGAGTG	0.692																																						uc003jfn.1		NaN																	0				ovary(2)|lung(1)	3						c.(34-36)GAG>AAG		F-box and leucine-rich repeat protein 7							96.0	124.0	114.0					5																	15500819		2114	4214	6328	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15500819G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.34G>A	5.37:g.15500819G>A	ENSP00000423630:p.Glu12Lys						p.E12K	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			1	515	+			12					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.34G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155622	0.78114	.	.	ENSG00000183580	ENST00000504595	T	0.13420	2.59	4.31	4.31	0.51392	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.80722	D	1	P	0.46578	0.88	P	0.50270	0.636	T	0.12167	-1.0558	9	0.12430	T	0.62	.	12.2742	0.54724	0.0:0.0:1.0:0.0	.	12	Q9UJT9	FBXL7_HUMAN	K	12	ENSP00000423630:E12K	ENSP00000423630:E12K	E	+	1	0	FBXL7	15553819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.139000	0.64801	1.921000	0.55644	0.491000	0.48974	GAG		0.692	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1		NM_012304		100	280	0	0	0	0.01441	0	100	280		
MYO10	4651	broad.mit.edu	37	5	16694540	16694540	+	Missense_Mutation	SNP	A	A	G	rs537885151		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:16694540A>G	ENST00000513610.1	-	27	4194	c.3740T>C	c.(3739-3741)aTg>aCg	p.M1247T	MYO10_ENST00000274203.9_Missense_Mutation_p.M604T|MYO10_ENST00000427430.2_Missense_Mutation_p.M604T|MYO10_ENST00000515803.1_Missense_Mutation_p.M586T|MYO10_ENST00000505695.1_Missense_Mutation_p.M586T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1247	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCAAAGTACATCAGCTTGGA	0.562													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19624	0.0		0.0	False		,,,				2504	0.0					uc003jft.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(3739-3741)ATG>ACG		myosin X							131.0	132.0	132.0					5																	16694540		1999	4171	6170	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694540A>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3740T>C	5.37:g.16694540A>G	ENSP00000421280:p.Met1247Thr					MYO10_uc011cnc.1_Missense_Mutation_p.M126T|MYO10_uc011cnd.1_Missense_Mutation_p.M604T|MYO10_uc011cne.1_Missense_Mutation_p.M604T|MYO10_uc010itx.2_Missense_Mutation_p.M870T	p.M1247T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			27	4208	-			1247			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3740T>C	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035647	0.54896	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.08626	0.0214	N	0.12611	0.24	0.80722	D	1	B;P;P	0.42785	0.017;0.79;0.716	B;B;B	0.39617	0.019;0.305;0.289	T	0.39375	-0.9617	9	0.14656	T	0.56	.	15.5924	0.76543	1.0:0.0:0.0:0.0	.	126;888;1247	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	T	1247;586;604;586;604	ENSP00000421280:M1247T;ENSP00000425051:M586T;ENSP00000274203:M604T;ENSP00000421170:M586T;ENSP00000391106:M604T	ENSP00000274203:M604T	M	-	2	0	MYO10	16747540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.084000	0.62774	0.533000	0.62120	ATG		0.562	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334		58	134	0	0	0	0.01441	0	58	134		
CDC20B	166979	broad.mit.edu	37	5	54410097	54410097	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:54410097C>T	ENST00000381375.2	-	12	1654	c.1509G>A	c.(1507-1509)cgG>cgA	p.R503R	CDC20B_ENST00000296733.1_Silent_p.R499R|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Silent_p.R461R			Q86Y33	CD20B_HUMAN	cell division cycle 20B	503			R -> W (in dbSNP:rs444527). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.							kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			cagaaaacacccgggtctggt	0.532																																						uc003jpo.1		NaN																	0					0						c.(1507-1509)CGG>CGA		CDC20 cell division cycle 20 homolog B isoform							95.0	89.0	91.0					5																	54410097		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54410097C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1509G>A	5.37:g.54410097C>T						CDC20B_uc003jpn.1_Silent_p.R499R|CDC20B_uc010ivu.1_Silent_p.R461R	p.R503R	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		12	1684	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	503			WD 7.		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.1509G>A	CCDS54852.1																																																																																				0.532	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1		NM_152623		35	74	0	0	0	0.013726	0	35	74		
CMYA5	202333	broad.mit.edu	37	5	79030171	79030171	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:79030171G>T	ENST00000446378.2	+	2	5614	c.5583G>T	c.(5581-5583)ttG>ttT	p.L1861F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1861					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGAATTTGCCTTTGGAAC	0.343																																						uc003kgc.2		NaN																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5581-5583)TTG>TTT		cardiomyopathy associated 5							84.0	82.0	83.0					5																	79030171		1822	4086	5908	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030171G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5583G>T	5.37:g.79030171G>T	ENSP00000394770:p.Leu1861Phe						p.L1861F	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5655	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1861					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5583G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931028	0.34096	.	.	ENSG00000164309	ENST00000446378	T	0.58797	0.31	5.05	0.999	0.19862	.	0.232106	0.22115	N	0.064421	T	0.41627	0.1167	L	0.43923	1.385	0.20873	N	0.999837	B	0.20368	0.044	B	0.20384	0.029	T	0.37957	-0.9683	10	0.72032	D	0.01	.	1.6929	0.02856	0.184:0.1626:0.4859:0.1675	.	1861	Q8N3K9	CMYA5_HUMAN	F	1861	ENSP00000394770:L1861F	ENSP00000394770:L1861F	L	+	3	2	CMYA5	79065927	0.999000	0.42202	0.804000	0.32291	0.172000	0.22775	1.083000	0.30815	0.165000	0.19558	-0.157000	0.13467	TTG		0.343	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		NM_153610		8	34	1	0	2.17888e-05	0.006214	2.2259e-05	8	34		
WDR36	134430	broad.mit.edu	37	5	110441021	110441021	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:110441021C>T	ENST00000513710.2	+	10	1227	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	WDR36_ENST00000506538.2_Missense_Mutation_p.S408F|WDR36_ENST00000505303.1_Missense_Mutation_p.S352F			Q8NI36	WDR36_HUMAN	WD repeat domain 36	408					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CAGTCATTTTCCACGGTACAT	0.348																																						uc003kpd.2		NaN																	0				ovary(1)|skin(1)	2						c.(1222-1224)TCC>TTC		WD repeat domain 36							94.0	92.0	93.0					5																	110441021		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110441021C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1223C>T	5.37:g.110441021C>T	ENSP00000424628:p.Ser408Phe					WDR36_uc010jbu.2_RNA	p.S408F	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	10	1340	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	408			WD 5.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1223C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744686	0.89663	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	D;D;T	0.82081	-1.57;-1.57;-0.62	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.055871	0.85682	D	0.000000	D	0.93592	0.7954	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94447	0.7664	10	0.87932	D	0	-11.9445	19.8917	0.96932	0.0:1.0:0.0:0.0	.	408	Q8NI36	WDR36_HUMAN	F	408;408;352	ENSP00000423067:S408F;ENSP00000424628:S408F;ENSP00000422158:S352F	ENSP00000422158:S352F	S	+	2	0	WDR36	110468920	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.294000	0.78760	2.705000	0.92388	0.591000	0.81541	TCC		0.348	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		6	19	0	0	0	0.001984	0	6	19		
TNIP1	10318	broad.mit.edu	37	5	150407000	150407000	+	IGR	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407000C>T	ENST00000389378.2	-	0	3268				GPX3_ENST00000388825.4_Nonsense_Mutation_p.R123*|GPX3_ENST00000517973.1_Silent_p.S71S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.R123G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTATGTCCGACCAGGTGG	0.493																																						uc011dcm.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CGA>TGA		glutathione peroxidase 3 precursor	Glutathione(DB00143)						79.0	80.0	80.0					5																	150407000		1987	4178	6165	SO:0001628	intergenic_variant	2878				hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	g.chr5:150407000C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407000C>T						GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	p.R123*	NM_002084	NP_002075	P22352	GPX3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	584	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	123					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Nonsense_Mutation	SNP	ENST00000389378.2	37	c.367C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401378	0.42613	.	.	ENSG00000211445	ENST00000388825;ENST00000521650	.	.	.	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3101	0.66410	0.2701:0.7299:0.0:0.0	.	.	.	.	X	123;132	.	ENSP00000373477:R123X	R	+	1	2	GPX3	150387193	0.096000	0.21769	0.864000	0.33941	0.266000	0.26442	0.526000	0.22971	1.333000	0.45449	0.655000	0.94253	CGA		0.493	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1		NM_006058		23	59	0	0	0	0.024334	0	23	59		
TNIP1	10318	broad.mit.edu	37	5	150407039	150407039	+	IGR	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407039G>C	ENST00000389378.2	-	0	3268				GPX3_ENST00000388825.4_Missense_Mutation_p.E136Q|GPX3_ENST00000517973.1_Missense_Mutation_p.L84F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCTCTTTGAGAAAGGGGA	0.527																																						uc011dcm.1		NaN																	0					0						c.(406-408)GAG>CAG		glutathione peroxidase 3 precursor	Glutathione(DB00143)						89.0	89.0	89.0					5																	150407039		1984	4188	6172	SO:0001628	intergenic_variant	2878				hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	g.chr5:150407039G>C	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407039G>C						GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	p.E136Q	NM_002084	NP_002075	P22352	GPX3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	623	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	136					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.406G>C	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.633007|1.633007	0.29068|0.29068	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000388825|ENST00000517973;ENST00000520059	T|.	0.04194|.	3.68|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Thioredoxin-like fold (2);|.	0.168534|.	0.50627|.	D|.	0.000107|.	T|T	0.58177|0.58177	0.2104|0.2104	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	B|.	0.32245|.	0.361|.	B|.	0.33196|.	0.159|.	T|T	0.61242|0.61242	-0.7102|-0.7102	10|6	0.25751|0.87932	T|D	0.34|0	.|.	11.4939|11.4939	0.50398|0.50398	0.0:0.19:0.6853:0.1246|0.0:0.19:0.6853:0.1246	.|.	136|.	P22352|.	GPX3_HUMAN|.	Q|F	136|84;33	ENSP00000373477:E136Q|.	ENSP00000373477:E136Q|ENSP00000429709:L84F	E|L	+|+	1|3	0|2	GPX3|GPX3	150387232|150387232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	1.929000|1.929000	0.40114|0.40114	2.625000|2.625000	0.88918|0.88918	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.527	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1		NM_006058		14	64	0	0	0	0.020292	0	14	64		
NOP16	51491	broad.mit.edu	37	5	175811366	175811366	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:175811366G>A	ENST00000389158.5	-	5	838	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Intron			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	135						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R135S(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTCTCATCACGGGCCATGGCC	0.458																																						uc011dfl.1		NaN																	2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(403-405)CGT>TGT		NOP16 nucleolar protein homolog							102.0	101.0	101.0					5																	175811366		1893	4123	6016	SO:0001583	missense	51491					nucleolus		g.chr5:175811366G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.403C>T	5.37:g.175811366G>A	ENSP00000373810:p.Arg135Cys					NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron	p.R135C	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN			5	403	-			135					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.403C>T	CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.106048|4.106048	0.77096|0.77096	.|.	.|.	ENSG00000048162|ENSG00000048162	ENST00000341213|ENST00000389158	.|.	.|.	.|.	5.87|5.87	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80031	.|0.4549	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.64687	.|0.928	.|T	.|0.83322	.|-0.0017	.|8	.|0.72032	.|D	.|0.01	.|.	13.0406|13.0406	0.58897|0.58897	0.1303:0.0:0.8697:0.0|0.1303:0.0:0.8697:0.0	.|.	.|135	.|Q9Y3C1	.|NOP16_HUMAN	.|C	-1|135	.|.	.|ENSP00000373810:R135C	.|R	-|-	.|1	.|0	NOP16|NOP16	175743972|175743972	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.811000|0.811000	0.45836|0.45836	4.707000|4.707000	0.61852|0.61852	0.943000|0.943000	0.37553|0.37553	0.655000|0.655000	0.94253|0.94253	.|CGT		0.458	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1		NM_016391		19	50	0	0	0	0.01892	0	19	50		
HIST1H1E	3008	broad.mit.edu	37	6	26156945	26156945	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:26156945G>T	ENST00000304218.3	+	1	387	c.327G>T	c.(325-327)aaG>aaT	p.K109N	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	109	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AACTCAACAAGAAGGCGGCCT	0.622																																						uc003ngq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(325-327)AAG>AAT		histone cluster 1, H1e							33.0	40.0	37.0					6																	26156945		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156945G>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.327G>T	6.37:g.26156945G>T	ENSP00000307705:p.Lys109Asn					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.K109N	NM_005321	NP_005312	P10412	H14_HUMAN			1	387	+			109			H15.		Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.327G>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	16.47	3.133405	0.56828	.	.	ENSG00000168298	ENST00000304218	T	0.11821	2.74	5.35	3.57	0.40892	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.105304	0.64402	D	0.000005	T	0.39600	0.1084	H	0.96604	3.85	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.56601	-0.7952	10	0.72032	D	0.01	-0.2553	11.2851	0.49218	0.1494:0.0:0.8506:0.0	.	109	P10412	H14_HUMAN	N	109	ENSP00000307705:K109N	ENSP00000307705:K109N	K	+	3	2	HIST1H1E	26264924	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.948000	0.87774	0.740000	0.32651	0.561000	0.74099	AAG		0.622	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1		NM_005321		13	28	1	0	0.00010058	0.013537	0.000102382	13	28		
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647																																						uc003oav.1		NaN																	0				ovary(1)	1						c.(208-210)GAG>AAG		pre-B-cell leukemia homeobox 2							50.0	48.0	49.0					6																	32157485		1511	2709	4220	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157485C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.208G>A	6.37:g.32157485C>T	ENSP00000364190:p.Glu70Lys					PBX2_uc003oaw.2_Missense_Mutation_p.E70K	p.E70K	NM_002586	NP_002577	P40425	PBX2_HUMAN			1	479	-			70					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.208G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449408	0.63178	.	.	ENSG00000204304	ENST00000375050	T	0.39406	1.08	3.97	3.08	0.35506	PBX (1);	0.242939	0.26414	N	0.024509	T	0.33760	0.0874	M	0.85859	2.78	0.53688	D	0.999979	P;P	0.49307	0.53;0.922	B;B	0.41466	0.086;0.358	T	0.42361	-0.9456	10	0.72032	D	0.01	-11.9812	10.5476	0.45068	0.1948:0.8052:0.0:0.0	.	70;70	Q7KZE5;P40425	.;PBX2_HUMAN	K	70	ENSP00000364190:E70K	ENSP00000364190:E70K	E	-	1	0	PBX2	32265463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.353000	0.79414	0.844000	0.35094	-0.324000	0.08512	GAG		0.647	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4				31	34	0	0	0	0.00874	0	31	34		
BRD2	6046	broad.mit.edu	37	6	32944130	32944130	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32944130C>T	ENST00000374825.4	+	6	2415	c.714C>T	c.(712-714)ctC>ctT	p.L238L	BRD2_ENST00000449085.2_Silent_p.L191L|BRD2_ENST00000395287.1_Silent_p.L238L|BRD2_ENST00000395289.2_Silent_p.L238L|BRD2_ENST00000374831.4_Silent_p.L238L|BRD2_ENST00000443797.2_Silent_p.L118L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	238			L -> F (in dbSNP:rs176250). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:17344846}.		chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CCACTGTCCTCAACATTCCCC	0.567																																						uc003ocn.3		NaN																	0				central_nervous_system(3)|stomach(2)	5						c.(712-714)CTC>CTT		bromodomain containing 2							142.0	124.0	130.0					6																	32944130		1511	2709	4220	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944130C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.714C>T	6.37:g.32944130C>T						BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L238L|BRD2_uc003ocp.3_Silent_p.L118L|BRD2_uc010juh.2_Silent_p.L238L	p.L238L	NM_005104	NP_005095	P25440	BRD2_HUMAN			6	2415	+			238					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.714C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811476	0.16537	.	.	ENSG00000204256	ENST00000456339;ENST00000449025	.	.	.	5.33	2.37	0.29283	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39623	-0.9605	4	.	.	.	-14.8547	9.2397	0.37489	0.0:0.646:0.2744:0.0796	.	.	.	.	L	240;244	.	.	S	+	2	0	BRD2	33052108	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.570000	0.23653	0.911000	0.36747	0.643000	0.83706	TCA		0.567	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2				37	72	0	0	0	0.010771	0	37	72		
GLP1R	2740	broad.mit.edu	37	6	39047367	39047367	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:39047367C>A	ENST00000373256.4	+	11	1114	c.1071C>A	c.(1069-1071)atC>atA	p.I357I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	357					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TGACACTCATCCCCCTGCTGG	0.567																																						uc003ooj.3		NaN																	0				lung(3)|breast(1)|pancreas(1)	5						c.(1069-1071)ATC>ATA		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						87.0	82.0	84.0					6																	39047367		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39047367C>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1071C>A	6.37:g.39047367C>A						GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.I357I	NM_002062	NP_002053	P43220	GLP1R_HUMAN			11	1131	+			357			Helical; Name=6; (Potential).		Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.1071C>A	CCDS4839.1																																																																																				0.567	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1				24	55	1	0	9.78306e-22	0.009535	1.06861e-21	24	55		
PGC	5225	broad.mit.edu	37	6	41708252	41708252	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:41708252G>C	ENST00000373025.3	-	6	806	c.744C>G	c.(742-744)ctC>ctG	p.L248L		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	248					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCTGCCAGTAGAGTTCCTGGG	0.617																																						uc003ora.1		NaN																	0					0						c.(742-744)CTC>CTG		progastricsin (pepsinogen C) precursor							107.0	103.0	104.0					6																	41708252		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41708252G>C		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.744C>G	6.37:g.41708252G>C							p.L248L	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		6	793	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		248					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.744C>G	CCDS4859.1																																																																																				0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2				64	87	0	0	0	0.01441	0	64	87		
TAF8	129685	broad.mit.edu	37	6	42016405	42016405	+	5'Flank	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:42016405C>T	ENST00000372977.3	+	0	0				CCND3_ENST00000511642.1_Intron|TAF8_ENST00000372978.3_5'Flank|TAF8_ENST00000482432.1_5'Flank|CCND3_ENST00000372988.4_De_novo_Start_OutOfFrame|TAF8_ENST00000372982.4_5'Flank|CCND3_ENST00000511686.1_5'UTR|TAF8_ENST00000456846.2_5'Flank|TAF8_ENST00000494547.1_5'Flank|TAF8_ENST00000465926.1_5'Flank|CCND3_ENST00000415497.2_De_novo_Start_OutOfFrame|CCND3_ENST00000510503.1_De_novo_Start_OutOfFrame|TAF8_ENST00000472818.1_5'Flank	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa						cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCAGTCTCCACCCCTGCAGTG	0.672																																						uc003orp.2		NaN								T					IGH@		MM		0					0						c.(-213--209)GGGTG>GGATG		cyclin D3 isoform 1							17.0	18.0	18.0					6																	42016405		875	1991	2866	SO:0001631	upstream_gene_variant	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:42016405C>T	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692		6.37:g.42016405C>T	Exception_encountered					CCND3_uc011duk.1_Translation_Start_Site|CCND3_uc011dum.1_Translation_Start_Site|TAF8_uc003orr.2_5'Flank|TAF8_uc003ors.2_5'Flank|TAF8_uc003ort.2_5'Flank|TAF8_uc003oru.1_5'Flank|TAF8_uc003orv.1_5'Flank|TAF8_uc011dun.1_5'Flank		NM_001136017	NP_001129489	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		1	206	-	Colorectal(47;0.121)							Q5T0K1|Q8N4R9|Q96M52	Translation_Start_Site	SNP	ENST00000372977.3	37	c.-211G>A	CCDS43462.1																																																																																				0.672	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1		NM_138572		14	22	0	0	0	0.006122	0	14	22		
ABCC10	89845	broad.mit.edu	37	6	43400684	43400684	+	Silent	SNP	C	C	T	rs145760020		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:43400684C>T	ENST00000372530.4	+	3	1181	c.966C>T	c.(964-966)caC>caT	p.H322H	ABCC10_ENST00000244533.3_Silent_p.H279H|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	322	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CACTAAGCCACGGCCTGCTCT	0.587																																						uc003ouy.1		NaN																	0				ovary(6)|central_nervous_system(1)	7						c.(964-966)CAC>CAT		ATP-binding cassette, sub-family C, member 10		C	,	1,4405	2.1+/-5.4	0,1,2202	48.0	49.0	49.0		966,837	-10.9	0.2	6	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	322/1493,279/1465	43400684	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400684C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.966C>T	6.37:g.43400684C>T						ABCC10_uc003ouz.1_Silent_p.H279H|ABCC10_uc010jyo.1_5'Flank	p.H322H	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1181	+	all_lung(25;0.00536)		322			ABC transmembrane type-1 1.|Helical; (Potential).		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.966C>T	CCDS56430.1																																																																																				0.587	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2		NM_033450		34	57	0	0	0	0.025465	0	34	57		
SLC25A27	9481	broad.mit.edu	37	6	46623750	46623750	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:46623750C>T	ENST00000371347.5	+	2	529	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P93S|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	93					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGGAGTGACACCCGCCATTTA	0.453																																						uc003oyh.2		NaN																	0					0						c.(277-279)CCC>TCC		solute carrier family 25, member 27							129.0	136.0	134.0					6																	46623750		1915	4121	6036	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623750C>T	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.277C>T	6.37:g.46623750C>T	ENSP00000360398:p.Pro93Ser					SLC25A27_uc011dwb.1_Missense_Mutation_p.P93S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P93S|SLC25A27_uc011dwc.1_5'UTR|SLC25A27_uc003oyi.2_5'Flank	p.P93S	NM_004277	NP_004268	O95847	UCP4_HUMAN	Lung(136;0.192)		2	528	+			93			Solcar 1.|Helical; Name=2; (Potential).		F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.277C>T	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898481	0.72639	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	D;D	0.81996	-1.56;-1.56	5.3	4.42	0.53409	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.78916	2.43	0.80722	D	1	P;D	0.59767	0.828;0.986	P;D	0.64595	0.654;0.927	D	0.88754	0.3252	10	0.72032	D	0.01	-11.412	12.2132	0.54391	0.0:0.9142:0.0:0.0858	.	93;93	O95847;F5GWR4	UCP4_HUMAN;.	S	93	ENSP00000360398:P93S;ENSP00000412024:P93S	ENSP00000360398:P93S	P	+	1	0	SLC25A27	46731709	0.997000	0.39634	0.792000	0.32020	0.987000	0.75469	4.435000	0.59941	2.454000	0.82982	0.650000	0.86243	CCC		0.453	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1		NM_004277		35	72	0	0	0	0.013114	0	35	72		
GSTA5	221357	broad.mit.edu	37	6	52698951	52698951	+	Silent	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:52698951A>C	ENST00000370989.2	-	4	431	c.402T>G	c.(400-402)ccT>ccG	p.P134P	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.P134P			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	134	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTCAAAGGCAGGGAAGTAGC	0.423																																						uc003pba.1		NaN																	0				ovary(1)	1						c.(400-402)CCT>CCG		glutathione S-transferase alpha 5	Glutathione(DB00143)						271.0	264.0	266.0					6																	52698951		2203	4300	6503	SO:0001819	synonymous_variant	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52698951A>C	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.402T>G	6.37:g.52698951A>C							p.P134P	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			5	472	-	Lung NSC(77;0.0912)		134			GST C-terminal.		Q5SZC2	Silent	SNP	ENST00000370989.2	37	c.402T>G	CCDS4946.1																																																																																				0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1		NM_153699		52	92	0	0	0	0.01441	0	52	92		
MDN1	23195	broad.mit.edu	37	6	90448114	90448114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:90448114C>T	ENST00000369393.3	-	33	4769	c.4654G>A	c.(4654-4656)Gaa>Aaa	p.E1552K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1552K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1552					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTAAATCTTCACGGCTTGTG	0.393																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(4654-4656)GAA>AAA		MDN1, midasin homolog							124.0	114.0	117.0					6																	90448114		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90448114C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4654G>A	6.37:g.90448114C>T	ENSP00000358400:p.Glu1552Lys						p.E1552K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	33	4770	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1552					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4654G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974094	0.34848	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.48522	0.81;0.81	5.69	4.71	0.59529	.	0.451766	0.26362	N	0.024803	T	0.25531	0.0621	M	0.64170	1.965	0.30924	N	0.727673	B	0.15719	0.014	B	0.16722	0.016	T	0.05886	-1.0858	10	0.27082	T	0.32	.	8.8019	0.34914	0.0:0.6247:0.2767:0.0986	.	1552	Q9NU22	MDN1_HUMAN	K	1552	ENSP00000358400:E1552K;ENSP00000413970:E1552K	ENSP00000358400:E1552K	E	-	1	0	MDN1	90504835	0.078000	0.21339	1.000000	0.80357	0.990000	0.78478	0.481000	0.22260	2.689000	0.91719	0.557000	0.71058	GAA		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				25	37	0	0	0	0.024334	0	25	37		
CLVS2	134829	broad.mit.edu	37	6	123319295	123319295	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:123319295A>T	ENST00000275162.5	+	2	1708	c.373A>T	c.(373-375)Aat>Tat	p.N125Y	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	125	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTTTGCTGCCAATTGGGATCA	0.483																																						uc003pzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(373-375)AAT>TAT		retinaldehyde binding protein 1-like 2							50.0	48.0	49.0					6																	123319295		2202	4293	6495	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319295A>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.373A>T	6.37:g.123319295A>T	ENSP00000275162:p.Asn125Tyr						p.N125Y	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1242	+			125			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.373A>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172619	0.78452	.	.	ENSG00000146352	ENST00000275162	T	0.75938	-0.98	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.80632	-0.1296	10	0.52906	T	0.07	-1.4323	15.7462	0.77944	1.0:0.0:0.0:0.0	.	125	Q5SYC1	CLVS2_HUMAN	Y	125	ENSP00000275162:N125Y	ENSP00000275162:N125Y	N	+	1	0	CLVS2	123360994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.128000	0.94424	2.307000	0.77673	0.528000	0.53228	AAT		0.483	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2		NM_001010852		19	31	0	0	0	0.010504	0	19	31		
PHACTR2	9749	broad.mit.edu	37	6	143929448	143929448	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:143929448T>C	ENST00000427704.2	+	1	132	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Start_Codon_SNP_p.M1T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	1							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTGAGACATGGACAACGCC	0.542																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3		NaN																	0				ovary(2)	2						c.(1-3)ATG>ACG		phosphatase and actin regulator 2 isoform 3							64.0	70.0	68.0					6																	143929448		2038	4188	6226	SO:0001582	initiator_codon_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:143929448T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.2T>C	6.37:g.143929448T>C	ENSP00000391763:p.Met1Thr					PHACTR2_uc010khh.2_Missense_Mutation_p.M1T	p.M1T	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	1	132	+			1					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.2T>C	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785307	0.49997	.	.	ENSG00000112419	ENST00000427704;ENST00000305766	T;T	0.30182	1.97;1.54	5.86	5.86	0.93980	.	0.401000	0.20912	N	0.083446	T	0.25644	0.0624	.	.	.	0.80722	D	1	P;P	0.45827	0.867;0.791	P;B	0.44811	0.461;0.212	T	0.04386	-1.0955	9	0.62326	D	0.03	.	15.4291	0.75077	0.0:0.0:0.0:1.0	.	1;1	O75167-5;O75167	.;PHAR2_HUMAN	T	1	ENSP00000391763:M1T;ENSP00000305530:M1T	ENSP00000305530:M1T	M	+	2	0	PHACTR2	143971141	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.307000	0.65762	2.241000	0.73720	0.533000	0.62120	ATG		0.542	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2		NM_014721	Missense_Mutation	18	31	0	0	0	0.016522	0	18	31		
GRM1	2911	broad.mit.edu	37	6	146720833	146720833	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:146720833C>T	ENST00000282753.1	+	7	2893	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	GRM1_ENST00000361719.2_Silent_p.A886A|GRM1_ENST00000355289.4_Silent_p.A886A|GRM1_ENST00000492807.2_Silent_p.A886A|GRM1_ENST00000507907.1_Silent_p.A886A|GRM1_ENST00000392299.2_Silent_p.A886A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	886					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGGGAATGCCAAGTGAGTTA	0.488																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2656-2658)GCC>GCT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						23.0	20.0	21.0					6																	146720833		2195	4274	6469	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720833C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2658C>T	6.37:g.146720833C>T						GRM1_uc010khv.1_Silent_p.A886A|GRM1_uc003qll.2_Silent_p.A886A|GRM1_uc011edz.1_Silent_p.A886A|GRM1_uc011eea.1_Silent_p.A886A	p.A886A	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3128	+		Ovarian(120;0.0387)	886			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2658C>T	CCDS5209.1																																																																																				0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		6	7	0	0	0	0.021553	0	6	7		
SYNE1	23345	broad.mit.edu	37	6	152674462	152674462	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:152674462T>A	ENST00000367255.5	-	69	11790	c.11189A>T	c.(11188-11190)aAt>aTt	p.N3730I	SYNE1_ENST00000341594.5_Missense_Mutation_p.N3701I|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3730I|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3715I|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3715I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3730					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTAGCCACATTCTTGAAGTT	0.398										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(11188-11190)AAT>ATT		spectrin repeat containing, nuclear envelope 1							181.0	174.0	176.0					6																	152674462		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674462T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11189A>T	6.37:g.152674462T>A	ENSP00000356224:p.Asn3730Ile	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.N3715I|SYNE1_uc003qou.3_Missense_Mutation_p.N3730I|SYNE1_uc010kja.1_Missense_Mutation_p.N435I	p.N3730I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11791	-		Ovarian(120;0.0955)	3730			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11189A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945700	0.34377	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54479	0.66;0.6;0.57;0.6;1.28	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000006	T	0.30417	0.0764	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.28258	0.205;0.205;0.205;0.169	B;B;B;B	0.24848	0.02;0.02;0.02;0.056	T	0.19844	-1.0293	10	0.37606	T	0.19	.	11.9872	0.53155	0.0:0.0:0.1444:0.8556	.	3730;3730;3730;3715	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3730;3715;3730;3715;3701	ENSP00000356224:N3730I;ENSP00000396024:N3715I;ENSP00000265368:N3730I;ENSP00000390975:N3715I;ENSP00000341887:N3701I	ENSP00000265368:N3730I	N	-	2	0	SYNE1	152716155	0.989000	0.36119	1.000000	0.80357	0.976000	0.68499	1.857000	0.39399	2.194000	0.70268	0.533000	0.62120	AAT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		5	103	0	0	0	0.014758	0	5	103		
PNLDC1	154197	broad.mit.edu	37	6	160225085	160225085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:160225085C>T	ENST00000610273.1	+	5	475	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.Q113*|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	102						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCAGTGTTCAGTTTTTGAA	0.413																																						uc003qsx.1		NaN																	0					0						c.(304-306)CAG>TAG		poly(A)-specific ribonuclease (PARN)-like domain							147.0	152.0	150.0					6																	160225085		2203	4300	6503	SO:0001587	stop_gained	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225085C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.304C>T	6.37:g.160225085C>T	ENSP00000476448:p.Gln102*					PNLDC1_uc003qsy.1_Nonsense_Mutation_p.Q113*	p.Q102*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	475	+		Breast(66;0.00519)|Ovarian(120;0.123)	102			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Nonsense_Mutation	SNP	ENST00000610273.1	37	c.304C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223955	0.97390	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.61	4.69	0.59074	.	0.217360	0.32258	N	0.006350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.4577	0.61208	0.0:0.8434:0.1566:0.0	.	.	.	.	X	102;113	.	ENSP00000275275:Q102X	Q	+	1	0	PNLDC1	160145075	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.625000	0.37029	2.640000	0.89533	0.655000	0.94253	CAG		0.413	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_173516		53	107	0	0	0	0.01441	0	53	107		
CCR6	1235	broad.mit.edu	37	6	167550264	167550264	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:167550264T>G	ENST00000341935.5	+	3	1098	c.546T>G	c.(544-546)acT>acG	p.T182T	CCR6_ENST00000349984.4_Silent_p.T182T|CCR6_ENST00000400926.2_Silent_p.T182T|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	182				T -> S (in Ref. 4; AAB06949). {ECO:0000305}.	cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCAGCTCAACTTTTGTCTTCA	0.517																																						uc003qvl.2		NaN																	0				ovary(1)	1						c.(544-546)ACT>ACG		chemokine (C-C motif) receptor 6							92.0	89.0	90.0					6																	167550264		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550264T>G	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.546T>G	6.37:g.167550264T>G						CCR6_uc010kkm.2_Silent_p.T182T|CCR6_uc003qvn.3_Silent_p.T182T|CCR6_uc003qvm.3_Silent_p.T182T	p.T182T	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3022	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	182	T -> S (in Ref. 4; AAB06949).		Extracellular (Potential).		E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.546T>G	CCDS5298.1																																																																																				0.517	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1				35	40	0	0	0	0.021022	0	35	40		
SKAP2	8935	broad.mit.edu	37	7	26709771	26709771	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:26709771C>T	ENST00000345317.2	-	12	1341	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	SKAP2_ENST00000539623.1_Missense_Mutation_p.G171E	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	343	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCCAATGGCTCCCTTCATTTC	0.363																																						uc003syc.2		NaN																	0				pancreas(1)	1						c.(1027-1029)GGA>GAA		src kinase associated phosphoprotein 2							102.0	92.0	95.0					7																	26709771		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26709771C>T		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.1028G>A	7.37:g.26709771C>T	ENSP00000005587:p.Gly343Glu					SKAP2_uc011jzi.1_Missense_Mutation_p.G171E|SKAP2_uc011jzj.1_Missense_Mutation_p.G328E	p.G343E	NM_003930	NP_003921	O75563	SKAP2_HUMAN			12	1321	-			343			SH3.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.1028G>A	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365514	0.82463	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.64991	-0.13;-0.13	5.34	5.34	0.76211	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80874	-0.1187	10	0.87932	D	0	-9.1246	19.0511	0.93046	0.0:1.0:0.0:0.0	.	328;343	B7Z5N4;O75563	.;SKAP2_HUMAN	E	343;171;328	ENSP00000005587:G343E;ENSP00000443593:G171E	ENSP00000005587:G343E	G	-	2	0	SKAP2	26676296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.512000	0.84698	0.655000	0.94253	GGA		0.363	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1				19	28	0	0	0	0.01892	0	19	28		
HOXA10	3206	broad.mit.edu	37	7	27213894	27213894	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:27213894G>A	ENST00000283921.4	-	1	31	c.32C>T	c.(31-33)tCg>tTg	p.S11L	RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA10_ENST00000521421.1_5'Flank|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	11					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ATAATTTGGCGAAGGGAGCAG	0.587																																						uc011jzm.1		NaN																	0					0						c.(31-33)TCG>TTG		homeobox A10 isoform a							52.0	58.0	56.0					7																	27213894		1245	2683	3928	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213894G>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.32C>T	7.37:g.27213894G>A	ENSP00000283921:p.Ser11Leu					HOXA10_uc003syw.3_Intron	p.S11L	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	62	-			11					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.32C>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707901	0.89018	.	.	ENSG00000253293	ENST00000283921	D	0.93133	-3.17	5.28	5.28	0.74379	.	.	.	.	.	D	0.93893	0.8046	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	D	0.95035	0.8173	9	0.72032	D	0.01	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	11	P31260	HXA10_HUMAN	L	11	ENSP00000283921:S11L	ENSP00000283921:S11L	S	-	2	0	HOXA10	27180419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.441000	0.82636	0.561000	0.74099	TCG		0.587	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2				46	86	0	0	0	0.010771	0	46	86		
SEMA3A	10371	broad.mit.edu	37	7	83636800	83636800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:83636800C>A	ENST00000265362.4	-	10	1323	c.1009G>T	c.(1009-1011)Gga>Tga	p.G337*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.G337*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACGGCTGATCCCTTGAAAATG	0.388																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1009-1011)GGA>TGA		semaphorin 3A precursor							106.0	84.0	91.0					7																	83636800		2203	4300	6503	SO:0001587	stop_gained	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83636800C>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1009G>T	7.37:g.83636800C>A	ENSP00000265362:p.Gly337*						p.G337*	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			10	1324	-			337			Sema.			Nonsense_Mutation	SNP	ENST00000265362.4	37	c.1009G>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	41	8.822389	0.98966	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000265362:G337X	G	-	1	0	SEMA3A	83474736	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.390000	0.81377	0.561000	0.74099	GGA		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		15	19	1	0	4.7546e-09	0.028581	4.98268e-09	15	19		
ZAN	7455	broad.mit.edu	37	7	100364700	100364700	+	RNA	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100364700C>A	ENST00000348028.3	+	0	4845				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACCACTTCATGGGCACCT	0.607																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4678-4680)TTC>TTA		zonadhesin isoform 3							78.0	81.0	80.0					7																	100364700		2170	4276	6446			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364700C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364700C>A						ZAN_uc003uwk.2_Missense_Mutation_p.F1560L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.F137L	p.F1560L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4845	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1560			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4680C>A		.	.	.	.	.	.	.	.	.	.	C	34	5.334102	0.95758	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.44	4.44	0.53790	von Willebrand factor, type D domain (3);	0.000000	0.41500	D	0.000864	T	0.80654	0.4664	M	0.89030	3	0.32239	N	0.572929	D;D	0.76494	0.999;0.999	D;D	0.74348	0.98;0.983	D	0.85291	0.1067	10	0.56958	D	0.05	.	13.3488	0.60589	0.0:1.0:0.0:0.0	.	1560;1560	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1560;1560;1560;137	ENSP00000445943:F1560L;ENSP00000445091:F1560L;ENSP00000444427:F1560L;ENSP00000441117:F137L	ENSP00000423579:F1560L	F	+	3	2	ZAN	100202636	0.960000	0.32886	1.000000	0.80357	0.968000	0.65278	2.186000	0.42593	2.432000	0.82394	0.556000	0.70494	TTC		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		46	86	1	0	4.25531e-23	0.01441	4.68414e-23	46	86		
MOGAT3	346606	broad.mit.edu	37	7	100841559	100841559	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100841559G>A	ENST00000223114.4	-	5	747	c.581C>T	c.(580-582)gCg>gTg	p.A194V	MOGAT3_ENST00000440203.2_Missense_Mutation_p.A194V|MOGAT3_ENST00000379423.3_Missense_Mutation_p.A194V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	194					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCTCGTGCGCACCCCCCAC	0.677																																						uc003uyc.2		NaN																	0				ovary(2)	2						c.(580-582)GCG>GTG		monoacylglycerol O-acyltransferase 3							49.0	52.0	51.0					7																	100841559		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841559G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.581C>T	7.37:g.100841559G>A	ENSP00000223114:p.Ala194Val					MOGAT3_uc010lhr.2_Missense_Mutation_p.A194V	p.A194V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			5	748	-	Lung NSC(181;0.168)|all_lung(186;0.215)		194					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.581C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.312808	0.40895	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	D;T;T	0.93426	-3.22;2.33;2.33	5.03	1.36	0.22044	.	0.053190	0.85682	D	0.000000	D	0.89480	0.6727	L	0.59436	1.845	0.21020	N	0.999808	D;D	0.57571	0.973;0.98	B;B	0.43274	0.406;0.414	T	0.82552	-0.0400	10	0.56958	D	0.05	-15.9866	5.6763	0.17751	0.1961:0.1603:0.6436:0.0	.	194;194	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	V	194	ENSP00000223114:A194V;ENSP00000403756:A194V;ENSP00000368734:A194V	ENSP00000223114:A194V	A	-	2	0	MOGAT3	100628279	0.996000	0.38824	0.001000	0.08648	0.028000	0.11728	3.701000	0.54793	-0.043000	0.13513	0.462000	0.41574	GCG		0.677	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3		NM_178176		70	23	0	0	0	0.01441	0	70	23		
PAX4	5078	broad.mit.edu	37	7	127253582	127253582	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:127253582G>T	ENST00000341640.2	-	5	748	c.543C>A	c.(541-543)ttC>ttA	p.F181L	PAX4_ENST00000463946.1_Missense_Mutation_p.F179L|PAX4_ENST00000338516.3_Missense_Mutation_p.F189L|PAX4_ENST00000378740.2_Missense_Mutation_p.F181L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	189					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCCACGCTGGAACTCTGCGG	0.587																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NaN																	0				ovary(1)	1						c.(541-543)TTC>TTA		paired box 4							55.0	56.0	56.0					7																	127253582		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253582G>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.543C>A	7.37:g.127253582G>T	ENSP00000339906:p.Phe181Leu					PAX4_uc003vmf.2_Missense_Mutation_p.F179L|PAX4_uc003vmg.1_Missense_Mutation_p.F181L|PAX4_uc003vmh.2_Missense_Mutation_p.F179L	p.F181L	NM_006193	NP_006184	O43316	PAX4_HUMAN			5	749	-			189			Homeobox.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.543C>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098254	0.76870	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99399	-5.83;-5.83;-5.83	4.24	2.37	0.29283	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.206052	0.42053	D	0.000765	D	0.99498	0.9821	M	0.92317	3.295	0.45415	D	0.998399	D;P;D;D	0.89917	1.0;0.906;0.997;1.0	D;P;D;D	0.80764	0.994;0.626;0.991;0.992	D	0.99243	1.0885	10	0.56958	D	0.05	.	9.4021	0.38440	0.184:0.0:0.816:0.0	.	181;179;189;179	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	L	181;189;189;179	ENSP00000339906:F181L;ENSP00000344297:F189L;ENSP00000451923:F179L	ENSP00000344297:F189L	F	-	3	2	PAX4	127040818	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.943000	0.29030	0.701000	0.31803	0.650000	0.86243	TTC		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1				20	57	1	0	4.96729e-08	0.008871	5.12986e-08	20	57		
CNTNAP2	26047	broad.mit.edu	37	7	147600709	147600709	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:147600709C>T	ENST00000361727.3	+	14	2667	c.2151C>T	c.(2149-2151)taC>taT	p.Y717Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	717	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCACTACTACTGGGGAGGCT	0.512										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2149-2151)TAC>TAT		cell recognition molecule Caspr2 precursor							74.0	67.0	69.0					7																	147600709		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600709C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2151C>T	7.37:g.147600709C>T		HNSCC(39;0.1)					p.Y717Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2667	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	717			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2151C>T	CCDS5889.1																																																																																				0.512	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				6	21	0	0	0	0.004482	0	6	21		
ARHGEF10	9639	broad.mit.edu	37	8	1841803	1841803	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:1841803G>A	ENST00000398564.1	+	12	1326	c.1326G>A	c.(1324-1326)agG>agA	p.R442R	ARHGEF10_ENST00000349830.3_Silent_p.R417R|ARHGEF10_ENST00000520359.1_Silent_p.R379R|ARHGEF10_ENST00000262112.6_Silent_p.R442R|ARHGEF10_ENST00000398560.1_Silent_p.R403R|ARHGEF10_ENST00000518288.1_Silent_p.R442R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	442	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTCTTAAGAGGATTTTGGAGG	0.313																																						uc003wpr.2		NaN																	0				large_intestine(1)	1						c.(1249-1251)AGG>AGA		Rho guanine nucleotide exchange factor 10							133.0	129.0	131.0					8																	1841803		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1841803G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1326G>A	8.37:g.1841803G>A						ARHGEF10_uc003wpq.1_Silent_p.R442R|ARHGEF10_uc003wps.2_Silent_p.R379R|ARHGEF10_uc003wpt.2_Silent_p.R293R|ARHGEF10_uc003wpv.2_Silent_p.R150R|ARHGEF10_uc010lre.2_Silent_p.R97R	p.R417R	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	12	1429	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	442			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.1251G>A																																																																																					0.313	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding					13	42	0	0	0	0.024245	0	13	42		
LPL	4023	broad.mit.edu	37	8	19811640	19811640	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:19811640C>T	ENST00000311322.8	+	5	1021	c.551C>T	c.(550-552)cCa>cTa	p.P184L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	184			P -> R (in LPL deficiency; Nijmegen; loss of activity). {ECO:0000269|PubMed:1521525}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCCTCGATCCAGCTGGACCT	0.453																																						uc003wzk.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3	GRCh37	CM921018	LPL	M		c.(550-552)CCA>CTA		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						101.0	96.0	97.0					8																	19811640		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811640C>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.551C>T	8.37:g.19811640C>T	ENSP00000309757:p.Pro184Leu						p.P184L	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	921	+			184		P -> R (in LPL deficiency; Nijmegen; loss of activity).			B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.551C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736138	0.89482	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.94828	-3.53;-3.53	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.98818	4.34	0.41209	D	0.986429	D	0.63880	0.993	D	0.64776	0.929	D	0.99198	1.0872	8	.	.	.	-13.5272	18.3732	0.90420	0.0:1.0:0.0:0.0	.	184	P06858	LIPL_HUMAN	L	108;184;108;170	ENSP00000428496:P108L;ENSP00000309757:P184L	.	P	+	2	0	LPL	19855920	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.708000	0.68377	2.941000	0.99782	0.655000	0.94253	CCA		0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3				19	55	0	0	0	0.008871	0	19	55		
CDCA2	157313	broad.mit.edu	37	8	25364307	25364307	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:25364307G>A	ENST00000330560.3	+	15	2602	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	CDCA2_ENST00000380665.3_Missense_Mutation_p.D694N|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	709					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGCTGGAACTGACAGTCCTGT	0.373																																						uc003xep.1		NaN																	0					0						c.(2125-2127)GAC>AAC		cell division cycle associated 2							36.0	37.0	37.0					8																	25364307		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364307G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2125G>A	8.37:g.25364307G>A	ENSP00000328228:p.Asp709Asn					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.D694N|CDCA2_uc003xer.1_Missense_Mutation_p.D372N	p.D709N	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2604	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	709					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2125G>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	8.479	0.859358	0.17178	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.42131	0.98;0.98	5.07	0.973	0.19710	.	0.568299	0.17458	N	0.173539	T	0.24812	0.0602	N	0.22421	0.69	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.15484	0.013;0.013	T	0.15925	-1.0420	10	0.54805	T	0.06	-0.0151	6.2761	0.20981	0.4413:0.0:0.5587:0.0	.	694;709	E9PEI0;Q69YH5	.;CDCA2_HUMAN	N	709;694;108	ENSP00000328228:D709N;ENSP00000370040:D694N	ENSP00000328228:D709N	D	+	1	0	CDCA2	25420224	0.010000	0.17322	0.000000	0.03702	0.030000	0.12068	0.580000	0.23803	0.314000	0.23086	0.650000	0.86243	GAC		0.373	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562		6	12	0	0	0	0.00308	0	6	12		
DUSP26	78986	broad.mit.edu	37	8	33451114	33451114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:33451114C>T	ENST00000256261.4	-	3	890	c.373G>A	c.(373-375)Gac>Aac	p.D125N	DUSP26_ENST00000523956.1_Missense_Mutation_p.D125N	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	125	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		ATGCTCATGTCAAAGGCTGGC	0.642																																						uc003xjp.2		NaN																	0					0						c.(373-375)GAC>AAC		dual specificity phosphatase 26							60.0	51.0	54.0					8																	33451114		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33451114C>T	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.373G>A	8.37:g.33451114C>T	ENSP00000256261:p.Asp125Asn					DUSP26_uc003xjq.2_Missense_Mutation_p.D125N	p.D125N	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	3	706	-			125			Tyrosine-protein phosphatase.		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.373G>A	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526701	0.85706	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.61510	0.1;0.1;0.1	4.97	4.97	0.65823	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.091506	0.64402	D	0.000001	T	0.56688	0.2002	L	0.35341	1.055	0.58432	D	0.999999	B	0.21606	0.058	B	0.39617	0.305	T	0.51663	-0.8677	10	0.24483	T	0.36	-38.8446	18.1919	0.89809	0.0:1.0:0.0:0.0	.	125	Q9BV47	DUS26_HUMAN	N	125	ENSP00000256261:D125N;ENSP00000429176:D125N;ENSP00000430922:D125N	ENSP00000256261:D125N	D	-	1	0	DUSP26	33570656	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.667000	0.83888	2.470000	0.83445	0.563000	0.77884	GAC		0.642	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1		NM_024025		32	94	0	0	0	0.007835	0	32	94		
RP1	6101	broad.mit.edu	37	8	55539332	55539332	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:55539332A>G	ENST00000220676.1	+	4	3038	c.2890A>G	c.(2890-2892)Ata>Gta	p.I964V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	964					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTGGAAAAATAAGTAATTT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(2890-2892)ATA>GTA		retinitis pigmentosa RP1 protein							52.0	58.0	56.0					8																	55539332		2195	4294	6489	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539332A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2890A>G	8.37:g.55539332A>G	ENSP00000220676:p.Ile964Val					RP1_uc011ldy.1_Intron	p.I964V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3038	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	964						Missense_Mutation	SNP	ENST00000220676.1	37	c.2890A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	1.243	-0.620744	0.03636	.	.	ENSG00000104237	ENST00000220676	T	0.44482	0.92	5.62	2.8	0.32819	.	1.011480	0.07923	N	0.976287	T	0.24160	0.0585	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24368	-1.0162	10	0.40728	T	0.16	.	7.7615	0.28955	0.266:0.0:0.734:0.0	.	964	P56715	RP1_HUMAN	V	964	ENSP00000220676:I964V	ENSP00000220676:I964V	I	+	1	0	RP1	55701885	0.966000	0.33281	0.088000	0.20740	0.028000	0.11728	0.753000	0.26376	0.284000	0.22305	0.533000	0.62120	ATA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		29	22	0	0	0	0.007291	0	29	22		
PLAG1	5324	broad.mit.edu	37	8	57079893	57079893	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:57079893G>A	ENST00000316981.3	-	5	891	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	PLAG1_ENST00000429357.2_Missense_Mutation_p.R138C|PLAG1_ENST00000423799.2_Missense_Mutation_p.R56C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	138	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCCAAGTGACGTTTAAATCCA	0.448			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3		NaN		Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	0				salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(412-414)CGT>TGT		pleiomorphic adenoma gene 1 isoform b							152.0	112.0	125.0					8																	57079893		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079893G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.412C>T	8.37:g.57079893G>A	ENSP00000325546:p.Arg138Cys					PLAG1_uc003xsr.3_Missense_Mutation_p.R138C|PLAG1_uc010lyi.2_Missense_Mutation_p.R138C|PLAG1_uc010lyj.2_Missense_Mutation_p.R56C	p.R138C	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	863	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	138			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 4.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.412C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296947	0.60086	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.56275	0.47;0.47;0.47	5.55	5.55	0.83447	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	0.72827	0.3509	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74612	-0.3607	10	0.72032	D	0.01	-14.8951	19.5003	0.95091	0.0:0.0:1.0:0.0	.	138	Q6DJT9	PLAG1_HUMAN	C	138;56;138	ENSP00000325546:R138C;ENSP00000404067:R56C;ENSP00000416537:R138C	ENSP00000325546:R138C	R	-	1	0	PLAG1	57242447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.594000	0.87642	0.585000	0.79938	CGT		0.448	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1		NM_002655		9	30	0	0	0	0.010729	0	9	30		
ZFHX4	79776	broad.mit.edu	37	8	77764201	77764201	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:77764201C>G	ENST00000521891.2	+	10	5492	c.5044C>G	c.(5044-5046)Caa>Gaa	p.Q1682E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1656E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1637E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1637E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1637	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTCTGCTCAACCTGCACA	0.403										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4909-4911)CAA>GAA		zinc finger homeodomain 4							101.0	101.0	101.0					8																	77764201		2021	4200	6221	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764201C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5044C>G	8.37:g.77764201C>G	ENSP00000430497:p.Gln1682Glu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q1682E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1637E	p.Q1637E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5296	+			1637					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4909C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	8.749	0.920754	0.17982	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.74;0.7;0.69	4.14	4.14	0.48551	.	0.000000	0.42821	U	0.000647	T	0.43277	0.1240	L	0.58101	1.795	0.50632	D	0.999884	B;B;B	0.28636	0.139;0.218;0.218	B;B;B	0.29942	0.05;0.109;0.109	T	0.37079	-0.9721	10	0.07813	T	0.8	.	16.9561	0.86260	0.0:1.0:0.0:0.0	.	1637;1637;1682	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	1682;1682;1637;1637;1656	ENSP00000430497:Q1682E;ENSP00000399605:Q1637E;ENSP00000050961:Q1637E;ENSP00000430848:Q1656E	ENSP00000050961:Q1637E	Q	+	1	0	ZFHX4	77926756	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	7.541000	0.82084	2.305000	0.77605	0.542000	0.68232	CAA		0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		11	43	0	0	0	0.008291	0	11	43		
PLEKHF2	79666	broad.mit.edu	37	8	96166422	96166422	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:96166422C>G	ENST00000315367.3	+	2	391	c.150C>G	c.(148-150)ccC>ccG	p.P50P	PLEKHF2_ENST00000519516.1_Silent_p.P50P	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	50	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GGAAAAAGCCCAAAGCAAGGC	0.358																																						uc003yhn.1		NaN																	0				ovary(2)	2						c.(148-150)CCC>CCG		phafin 2							96.0	95.0	96.0					8																	96166422		2203	4300	6503	SO:0001819	synonymous_variant	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166422C>G	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.150C>G	8.37:g.96166422C>G							p.P50P	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN			2	397	+	Breast(36;3.18e-05)		50			PH.			Silent	SNP	ENST00000315367.3	37	c.150C>G	CCDS6267.1																																																																																				0.358	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1		NM_024613		17	63	0	0	0	0.007413	0	17	63		
GDF6	392255	broad.mit.edu	37	8	97157377	97157377	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97157377C>T	ENST00000287020.5	-	2	881	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	261					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCCCAGACTCCGCAGGTCCGG	0.736																																						uc003yhp.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(781-783)CGG>CAG		growth differentiation factor 6 precursor							3.0	4.0	3.0					8																	97157377		1446	2979	4425	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157377C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.782G>A	8.37:g.97157377C>T	ENSP00000287020:p.Arg261Gln						p.R261Q	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	882	-	Breast(36;2.67e-05)		261					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.782G>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	c	17.04	3.286560	0.59867	.	.	ENSG00000156466	ENST00000287020;ENST00000435084	D	0.82344	-1.6	4.64	3.68	0.42216	Transforming growth factor-beta, N-terminal (1);	1.016460	0.07865	N	0.967016	T	0.78984	0.4370	L	0.61218	1.895	0.34780	D	0.734662	P	0.43231	0.801	B	0.36378	0.223	T	0.75714	-0.3221	10	0.15066	T	0.55	.	12.7308	0.57197	0.1651:0.8349:0.0:0.0	.	261	Q6KF10	GDF6_HUMAN	Q	261	ENSP00000287020:R261Q	ENSP00000287020:R261Q	R	-	2	0	GDF6	97226553	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	2.192000	0.42649	2.263000	0.75096	0.552000	0.68991	CGG		0.736	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2		NM_001001557		3	16	0	0	0	0.009096	0	3	16		
GDF6	392255	broad.mit.edu	37	8	97172829	97172829	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97172829G>C	ENST00000287020.5	-	1	191	c.92C>G	c.(91-93)tCc>tGc	p.S31C		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	31	Poly-Ser.				activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGACGACGAGGAGGATGAGAT	0.647																																						uc003yhp.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(91-93)TCC>TGC		growth differentiation factor 6 precursor							52.0	59.0	57.0					8																	97172829		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172829G>C		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.92C>G	8.37:g.97172829G>C	ENSP00000287020:p.Ser31Cys						p.S31C	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			1	192	-	Breast(36;2.67e-05)		31			Poly-Ser.		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.92C>G	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883556	0.72410	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.82255	-1.59	4.15	4.15	0.48705	.	1.850980	0.03555	N	0.226134	T	0.73938	0.3651	N	0.14661	0.345	0.30226	N	0.796364	P	0.45283	0.855	B	0.37091	0.241	T	0.69165	-0.5217	10	0.62326	D	0.03	.	13.3498	0.60595	0.0:0.0:1.0:0.0	.	31	Q6KF10	GDF6_HUMAN	C	31	ENSP00000287020:S31C	ENSP00000287020:S31C	S	-	2	0	GDF6	97242005	1.000000	0.71417	0.083000	0.20561	0.711000	0.40976	5.902000	0.69869	1.841000	0.53522	0.514000	0.50259	TCC		0.647	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2		NM_001001557		49	155	0	0	0	0.01441	0	49	155		
SYBU	55638	broad.mit.edu	37	8	110588178	110588178	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:110588178C>G	ENST00000422135.1	-	8	1464	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	SYBU_ENST00000408889.3_Missense_Mutation_p.E198Q|SYBU_ENST00000533171.1_Missense_Mutation_p.E317Q|SYBU_ENST00000419099.1_Missense_Mutation_p.E316Q|SYBU_ENST00000408908.2_Missense_Mutation_p.E317Q|SYBU_ENST00000533065.1_Missense_Mutation_p.E198Q|SYBU_ENST00000529690.1_Missense_Mutation_p.E187Q|SYBU_ENST00000446070.2_Missense_Mutation_p.E316Q|SYBU_ENST00000529175.1_Missense_Mutation_p.E111Q|SYBU_ENST00000399066.3_Missense_Mutation_p.E314Q|SYBU_ENST00000533895.1_Missense_Mutation_p.E316Q|SYBU_ENST00000532779.1_Missense_Mutation_p.E249Q|SYBU_ENST00000424158.2_Missense_Mutation_p.E322Q|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.E317Q|SYBU_ENST00000528647.1_Missense_Mutation_p.E316Q|SYBU_ENST00000433638.1_Missense_Mutation_p.E317Q|SYBU_ENST00000528331.1_Missense_Mutation_p.E198Q|SYBU_ENST00000276646.9_Missense_Mutation_p.E317Q	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	317	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGGTGACACTCCTCCTCAATC	0.502																																						uc003ynj.3		NaN																	0				ovary(1)	1						c.(949-951)GAG>CAG		Golgi-localized syntaphilin-related protein							61.0	63.0	62.0					8																	110588178		1995	4219	6214	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588178C>G	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.949G>C	8.37:g.110588178C>G	ENSP00000407118:p.Glu317Gln					SYBU_uc003yni.3_Missense_Mutation_p.E314Q|SYBU_uc003ynk.3_Missense_Mutation_p.E198Q|SYBU_uc010mco.2_Missense_Mutation_p.E316Q|SYBU_uc003ynl.3_Missense_Mutation_p.E316Q|SYBU_uc010mcp.2_Missense_Mutation_p.E317Q|SYBU_uc010mcq.2_Missense_Mutation_p.E317Q|SYBU_uc003yno.3_Missense_Mutation_p.E198Q|SYBU_uc010mcr.2_Missense_Mutation_p.E317Q|SYBU_uc003ynm.3_Missense_Mutation_p.E316Q|SYBU_uc003ynn.3_Missense_Mutation_p.E316Q|SYBU_uc010mcs.2_Missense_Mutation_p.E198Q|SYBU_uc010mct.2_Missense_Mutation_p.E317Q|SYBU_uc010mcu.2_Missense_Mutation_p.E316Q|SYBU_uc003ynp.3_Missense_Mutation_p.E249Q|SYBU_uc010mcv.2_Missense_Mutation_p.E317Q|SYBU_uc003ynh.3_Missense_Mutation_p.E111Q|SYBU_uc011lhw.1_Missense_Mutation_p.E187Q	p.E317Q	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1112	-			317			Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.949G>C	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727763	0.89390	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.999;0.998;0.998	D	0.83613	0.0135	9	0.52906	T	0.07	-29.8601	19.0385	0.92989	0.0:1.0:0.0:0.0	.	187;249;316;317;314	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Q	316;322;249;314;316;198;111;317;316;317;316;317;317;317;198;198;187;317	.	ENSP00000276646:E317Q	E	-	1	0	SYBU	110657354	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.743000	0.85020	2.736000	0.93811	0.591000	0.81541	GAG		0.502	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		NM_017786		26	73	0	0	0	0.024334	0	26	73		
CSMD3	114788	broad.mit.edu	37	8	113318249	113318249	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:113318249G>T	ENST00000297405.5	-	51	8302	c.8058C>A	c.(8056-8058)acC>acA	p.T2686T	CSMD3_ENST00000352409.3_Silent_p.T2616T|CSMD3_ENST00000343508.3_Silent_p.T2646T|CSMD3_ENST00000455883.2_Silent_p.T2582T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2686	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAGCGAGGGGTCTTGTTAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8056-8058)ACC>ACA		CUB and Sushi multiple domains 3 isoform 1							214.0	196.0	202.0					8																	113318249		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113318249G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8058C>A	8.37:g.113318249G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.T1888T|CSMD3_uc003ynt.2_Silent_p.T2646T|CSMD3_uc011lhx.1_Silent_p.T2582T	p.T2686T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8217	-			2686			Extracellular (Potential).|Sushi 15.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8058C>A	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		38	109	1	0	1.08114e-33	0.01441	1.21361e-33	38	109		
PARP10	84875	broad.mit.edu	37	8	145049425	145049425	+	IGR	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:145049425C>T	ENST00000313028.7	-	0	3497				PLEC_ENST00000356346.3_5'Flank|PLEC_ENST00000527096.1_Missense_Mutation_p.R38Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R38Q	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10						negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGCCGGCTCCGCTGCGTTTT	0.667											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaj.2		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(112-114)CGG>CAG		plectin isoform 1c							40.0	50.0	47.0					8																	145049425		2054	4179	6233	SO:0001628	intergenic_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145049425C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7			8.37:g.145049425C>T			OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1691	PLEC_uc003zah.2_5'Flank	p.R38Q	NM_000445	NP_000436	Q15149	PLEC_HUMAN			2	162	-			141			Globular 1.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.113G>A	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	c	16.39	3.109381	0.56398	.	.	ENSG00000178209	ENST00000436759;ENST00000527096;ENST00000528025	T;T;D	0.90385	-1.23;-1.23;-2.66	4.09	4.09	0.47781	.	.	.	.	.	D	0.91389	0.7283	L	0.44542	1.39	0.27339	N	0.956562	D	0.71674	0.998	D	0.72982	0.979	T	0.82261	-0.0545	9	0.09590	T	0.72	.	11.7183	0.51666	0.0:1.0:0.0:0.0	.	38	Q15149-2	.	Q	38	ENSP00000388180:R38Q;ENSP00000434583:R38Q;ENSP00000437303:R38Q	ENSP00000388180:R38Q	R	-	2	0	PLEC	145121413	0.598000	0.26882	0.999000	0.59377	0.982000	0.71751	3.367000	0.52350	2.104000	0.64026	0.650000	0.86243	CGG		0.667	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789		84	73	0	0	0	0.01441	0	84	73		
PTPRD	5789	broad.mit.edu	37	9	8460469	8460469	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8460469G>A	ENST00000381196.4	-	30	4360	c.3817C>T	c.(3817-3819)Cct>Tct	p.P1273S	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1260S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P852S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1251S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1273S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P862S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P859S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P852S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1273S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P859S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P862S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1273					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAAGGACAGGACCTACAACC	0.463										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3817-3819)CCT>TCT		protein tyrosine phosphatase, receptor type, D							180.0	158.0	166.0					9																	8460469		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460469G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3817C>T	9.37:g.8460469G>A	ENSP00000370593:p.Pro1273Ser	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.P862S|PTPRD_uc003zkq.2_Missense_Mutation_p.P862S|PTPRD_uc003zkr.2_Missense_Mutation_p.P857S|PTPRD_uc003zks.2_Missense_Mutation_p.P852S|PTPRD_uc003zkl.2_Missense_Mutation_p.P1264S|PTPRD_uc003zkm.2_Missense_Mutation_p.P1260S|PTPRD_uc003zkn.2_Missense_Mutation_p.P862S|PTPRD_uc003zko.2_Missense_Mutation_p.P859S	p.P1273S	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	32	4528	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1273			Helical; (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3817C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253461	0.80135	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.62;0.62;0.66;0.71;0.77;0.88;0.67;0.56;0.62;0.78;0.88	5.9	5.9	0.94986	.	0.049858	0.85682	D	0.000000	T	0.78534	0.4298	M	0.89214	3.015	0.80722	D	1	P;D;D;D;D;D;B;B;B	0.69078	0.948;0.993;0.993;0.993;0.997;0.996;0.001;0.043;0.398	P;D;D;D;D;D;B;B;B	0.75484	0.529;0.968;0.968;0.968;0.919;0.986;0.003;0.043;0.244	T	0.80437	-0.1383	9	.	.	.	.	19.8827	0.96904	0.0:0.0:1.0:0.0	.	852;857;862;862;859;859;1260;1273;1273	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1273;1273;1260;1251;862;852;859;859;744;1273;862;852	ENSP00000370593:P1273S;ENSP00000348812:P1273S;ENSP00000353187:P1260S;ENSP00000351293:P1251S;ENSP00000347373:P862S;ENSP00000380741:P852S;ENSP00000380735:P859S;ENSP00000440515:P859S;ENSP00000438164:P1273S;ENSP00000417093:P862S;ENSP00000380731:P852S	.	P	-	1	0	PTPRD	8450469	1.000000	0.71417	0.992000	0.48379	0.557000	0.35523	9.444000	0.97578	2.793000	0.96121	0.563000	0.77884	CCT		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				39	42	0	0	0	0.009718	0	39	42		
PTPRD	5789	broad.mit.edu	37	9	8465602	8465602	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8465602G>A	ENST00000381196.4	-	29	4121	c.3578C>T	c.(3577-3579)gCc>gTc	p.A1193V	PTPRD_ENST00000360074.4_Missense_Mutation_p.A1180V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A772V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1171V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1193V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A782V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A779V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A772V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1193V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A779V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A782V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1193					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGTGAGCGGCAATATATGG	0.428										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3577-3579)GCC>GTC		protein tyrosine phosphatase, receptor type, D							153.0	143.0	146.0					9																	8465602		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465602G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3578C>T	9.37:g.8465602G>A	ENSP00000370593:p.Ala1193Val	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.A782V|PTPRD_uc003zkq.2_Missense_Mutation_p.A782V|PTPRD_uc003zkr.2_Missense_Mutation_p.A777V|PTPRD_uc003zks.2_Missense_Mutation_p.A772V|PTPRD_uc003zkl.2_Missense_Mutation_p.A1184V|PTPRD_uc003zkm.2_Missense_Mutation_p.A1180V|PTPRD_uc003zkn.2_Missense_Mutation_p.A782V|PTPRD_uc003zko.2_Missense_Mutation_p.A779V	p.A1193V	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4289	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1193			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3578C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179483	0.78564	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.28;0.28;0.32;0.38;0.36;0.51;0.24;0.14;0.28;0.36;0.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.64997	1.995	0.80722	D	1	P;B;D;B;D;D;B;P;D	0.71674	0.536;0.147;0.993;0.118;0.998;0.996;0.112;0.594;0.993	B;B;D;B;D;D;B;B;D	0.70935	0.079;0.024;0.935;0.017;0.966;0.971;0.169;0.164;0.935	T	0.72004	-0.4421	9	.	.	.	.	19.7567	0.96296	0.0:0.0:1.0:0.0	.	772;777;782;782;779;779;1180;1193;1193	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	1193;1193;1180;1171;782;772;779;779;664;1193;782;772	ENSP00000370593:A1193V;ENSP00000348812:A1193V;ENSP00000353187:A1180V;ENSP00000351293:A1171V;ENSP00000347373:A782V;ENSP00000380741:A772V;ENSP00000380735:A779V;ENSP00000440515:A779V;ENSP00000438164:A1193V;ENSP00000417093:A782V;ENSP00000380731:A772V	.	A	-	2	0	PTPRD	8455602	1.000000	0.71417	0.935000	0.37517	0.979000	0.70002	9.420000	0.97426	2.746000	0.94184	0.650000	0.86243	GCC		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				28	79	0	0	0	0.009535	0	28	79		
FREM1	158326	broad.mit.edu	37	9	14859231	14859231	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:14859231C>T	ENST00000380880.3	-	4	1364	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	FREM1_ENST00000422223.2_Missense_Mutation_p.R194Q|FREM1_ENST00000380881.4_Missense_Mutation_p.R194Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	194					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCTTCTGGTCGAGGCTCCCC	0.502																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(580-582)CGA>CAA		FRAS1 related extracellular matrix 1 precursor							57.0	58.0	58.0					9																	14859231		1893	4119	6012	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14859231C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.581G>A	9.37:g.14859231C>T	ENSP00000370262:p.Arg194Gln					FREM1_uc010mic.2_RNA	p.R194Q	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	4	1171	-			194					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.581G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196653	0.22037	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10005	2.92;2.92;2.92	5.66	-4.52	0.03472	.	0.943824	0.09081	N	0.851295	T	0.02848	0.0085	N	0.01789	-0.72	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47302	-0.9128	10	0.10111	T	0.7	2.5805	7.0985	0.25323	0.1979:0.2349:0.0:0.5672	.	194	Q5H8C1	FREM1_HUMAN	Q	194	ENSP00000370263:R194Q;ENSP00000412940:R194Q;ENSP00000370262:R194Q	ENSP00000370257:R194Q	R	-	2	0	FREM1	14849231	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-0.022000	0.12480	-0.727000	0.04888	0.561000	0.74099	CGA		0.502	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		31	41	0	0	0	0.013726	0	31	41		
MLLT3	4300	broad.mit.edu	37	9	20414153	20414153	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:20414153C>G	ENST00000380338.4	-	5	977	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	MLLT3_ENST00000429426.2_Missense_Mutation_p.E228Q|MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	231					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTAGAGGATTCTTTGGAAGAT	0.378			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				lung(2)|ovary(1)	3						c.(691-693)GAA>CAA		myeloid/lymphoid or mixed-lineage leukemia							270.0	287.0	281.0					9																	20414153		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414153C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.691G>C	9.37:g.20414153C>G	ENSP00000369695:p.Glu231Gln					MLLT3_uc011lne.1_Missense_Mutation_p.E199Q|MLLT3_uc011lnf.1_Missense_Mutation_p.E228Q|MLLT3_uc003zof.2_Missense_Mutation_p.E32Q	p.E231Q	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	950	-			231					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.691G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983293	0.53827	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.69	5.69	0.88448	.	0.095518	0.64402	D	0.000001	T	0.76357	0.3976	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.73316	-0.4021	9	0.39692	T	0.17	-10.6566	19.7967	0.96487	0.0:1.0:0.0:0.0	.	228;231	B7Z755;P42568	.;AF9_HUMAN	Q	231;228;270	.	ENSP00000369695:E231Q	E	-	1	0	MLLT3	20404153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.681000	0.91329	0.591000	0.81541	GAA		0.378	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		40	129	0	0	0	0.01441	0	40	129		
APTX	54840	broad.mit.edu	37	9	32986023	32986023	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:32986023G>A	ENST00000379819.1	-	5	530	c.531C>T	c.(529-531)tcC>tcT	p.S177S	APTX_ENST00000476858.1_Silent_p.S123S|APTX_ENST00000379817.2_Silent_p.S163S|APTX_ENST00000397172.3_Silent_p.S105S|APTX_ENST00000379825.2_Silent_p.S177S|APTX_ENST00000463596.1_Silent_p.S163S|APTX_ENST00000379813.3_Silent_p.S163S|APTX_ENST00000468275.1_Silent_p.S163S|APTX_ENST00000436040.2_Silent_p.S163S|APTX_ENST00000309615.3_Silent_p.S177S			Q7Z2E3	APTX_HUMAN	aprataxin	177					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AGTGGCCCAGGGATTCCTaaa	0.308								Editing and processing nucleases																														uc003zrm.2		NaN																	0				ovary(1)	1						c.(487-489)TCC>TCT	Direct_reversal_of_damage|Editing_and_processing_nucleases	aprataxin isoform c							91.0	93.0	92.0					9																	32986023		2203	4300	6503	SO:0001819	synonymous_variant	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32986023G>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.531C>T	9.37:g.32986023G>A						APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Silent_p.S75S|APTX_uc011lns.1_5'UTR|APTX_uc003zrl.2_5'UTR|APTX_uc003zrn.2_Silent_p.S75S|APTX_uc003zro.2_Silent_p.S163S|APTX_uc003zrp.2_Silent_p.S75S|APTX_uc003zrq.2_Silent_p.S75S|APTX_uc003zrr.2_Silent_p.S109S|APTX_uc003zrs.2_Silent_p.S163S|APTX_uc003zrt.2_Silent_p.S75S|APTX_uc003zru.2_Silent_p.S109S|APTX_uc003zrv.2_Silent_p.S177S|APTX_uc003zrw.2_Silent_p.S91S|APTX_uc003zrx.2_Silent_p.S163S|APTX_uc003zry.2_Silent_p.S163S|APTX_uc003zrz.2_5'UTR|APTX_uc003zsa.1_Silent_p.S109S|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	p.S163S	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	4	686	-			177					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Silent	SNP	ENST00000379819.1	37	c.489C>T																																																																																					0.308	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2		NM_017692		10	44	0	0	0	0.008291	0	10	44		
SPATA31A6	389730	broad.mit.edu	37	9	43626815	43626815	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:43626815G>A	ENST00000332857.6	-	4	1900	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	624					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGGTGATTCGTCCCGAAGCT	0.547																																						uc011lrb.1		NaN																	0					0						c.(1870-1872)GAC>GAT		hypothetical protein LOC389730																																				SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43626815G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1872C>T	9.37:g.43626815G>A							p.D624D	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1901	-			624						Silent	SNP	ENST00000332857.6	37	c.1872C>T	CCDS47973.1																																																																																				0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196		5	23	0	0	0	0.006214	0	5	23		
OR1L3	26735	broad.mit.edu	37	9	125438220	125438220	+	Missense_Mutation	SNP	G	G	A	rs200110272		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:125438220G>A	ENST00000304820.2	+	1	906	c.812G>A	c.(811-813)cGa>cAa	p.R271Q		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GTCAAGGACCGAATAGCAACA	0.408																																						uc011lzb.1		NaN																	0				skin(1)	1						c.(811-813)CGA>CAA		olfactory receptor, family 1, subfamily L,							96.0	76.0	83.0					9																	125438220		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125438220G>A		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.812G>A	9.37:g.125438220G>A	ENSP00000302863:p.Arg271Gln						p.R271Q	NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN			1	812	+			271			Extracellular (Potential).		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.812G>A	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	G	5.380	0.255425	0.10185	.	.	ENSG00000171481	ENST00000304820	T	0.00084	8.75	4.02	-1.34	0.09143	GPCR, rhodopsin-like superfamily (1);	0.469817	0.15292	N	0.270125	T	0.00109	0.0003	L	0.50333	1.59	0.09310	N	1	B	0.18968	0.032	B	0.21917	0.037	T	0.30851	-0.9964	10	0.39692	T	0.17	-0.5767	3.0797	0.06258	0.3767:0.0:0.3143:0.309	.	271	Q8NH93	OR1L3_HUMAN	Q	271	ENSP00000302863:R271Q	ENSP00000302863:R271Q	R	+	2	0	OR1L3	124478041	0.000000	0.05858	0.000000	0.03702	0.418000	0.31294	0.353000	0.20130	-0.381000	0.07882	-1.133000	0.01973	CGA		0.408	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1				8	21	0	0	0	0.006214	0	8	21		
RPL12	6136	broad.mit.edu	37	9	130210620	130210620	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130210620G>C	ENST00000361436.5	-	5	462	c.375C>G	c.(373-375)ctC>ctG	p.L125L	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Silent_p.L92L|SNORA65_ENST00000364432.1_RNA	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	125					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCTTACCAGAGAGTTCTCTGG	0.443																																						uc004bqy.1		NaN																	0					0						c.(373-375)CTC>CTG		ribosomal protein L12							179.0	173.0	175.0					9																	130210620		2203	4300	6503	SO:0001819	synonymous_variant	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130210620G>C		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.375C>G	9.37:g.130210620G>C						RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Silent_p.L92L	p.L125L	NM_000976	NP_000967	P30050	RL12_HUMAN			5	463	-			125					Q5VVV2|Q6PB27	Silent	SNP	ENST00000361436.5	37	c.375C>G	CCDS6872.1																																																																																				0.443	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1				80	143	0	0	0	0.01441	0	80	143		
STXBP1	6812	broad.mit.edu	37	9	130422312	130422312	+	Missense_Mutation	SNP	G	G	A	rs34830702	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130422312G>A	ENST00000373299.1	+	5	365	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	STXBP1_ENST00000373302.3_Missense_Mutation_p.V84I	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	84			V -> D (in EIEE4; may alter protein structure). {ECO:0000269|PubMed:18469812}.		axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCCACAGTCCGTCCACTCTCT	0.507																																						uc004brl.2		NaN																	0				skin(1)	1						c.(250-252)GTC>ATC		syntaxin binding protein 1 isoform b		G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	113.0	105.0	108.0		250,250	4.8	1.0	9	dbSNP_126	108	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense	STXBP1	NM_001032221.3,NM_003165.3	29,29	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	benign,benign	84/595,84/604	130422312	8,12998	2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130422312G>A	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.250G>A	9.37:g.130422312G>A	ENSP00000362396:p.Val84Ile					STXBP1_uc004brk.2_Missense_Mutation_p.V84I	p.V84I	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			5	447	+			84		V -> D (in EIEE4; may alter protein structure).			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.250G>A	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278214	0.59758	4.54E-4	6.98E-4	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.76316	-1.01;-1.01	5.65	4.76	0.60689	.	0.054734	0.64402	N	0.000001	T	0.64681	0.2620	N	0.21324	0.655	0.58432	D	0.999999	P;P	0.50528	0.936;0.921	B;B	0.42386	0.386;0.267	T	0.62296	-0.6884	10	0.20519	T	0.43	-15.4009	12.711	0.57089	0.08:0.0:0.92:0.0	rs34830702	84;84	P61764;P61764-2	STXB1_HUMAN;.	I	38;84;84	ENSP00000362399:V84I;ENSP00000362396:V84I	ENSP00000362396:V84I	V	+	1	0	STXBP1	129462133	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	5.229000	0.65316	1.527000	0.49086	0.655000	0.94253	GTC		0.507	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1		NM_003165		20	51	0	0	0	0.01892	0	20	51		
SPTAN1	6709	broad.mit.edu	37	9	131388155	131388155	+	Silent	SNP	C	C	T	rs374511397		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:131388155C>T	ENST00000372731.4	+	47	6272	c.6162C>T	c.(6160-6162)atC>atT	p.I2054I	SPTAN1_ENST00000358161.5_Silent_p.I2059I|SPTAN1_ENST00000372739.3_Silent_p.I2059I	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2054					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAAGGCCATCGAGGCCCGGC	0.602																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6160-6162)ATC>ATT		spectrin, alpha, non-erythrocytic 1		C	,,	0,4406		0,0,2203	119.0	121.0	120.0		6177,6102,6162	-1.3	1.0	9		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	2059/2478,2034/2453,2054/2473	131388155	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388155C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6162C>T	9.37:g.131388155C>T						SPTAN1_uc004bvm.3_Silent_p.I2059I|SPTAN1_uc004bvn.3_Silent_p.I2034I|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	p.I2054I	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			47	6275	+			2054			Spectrin 21.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.6162C>T	CCDS6905.1																																																																																				0.602	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		73	132	0	0	0	0.01441	0	73	132		
COL5A1	1289	broad.mit.edu	37	9	137709646	137709646	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137709646C>A	ENST00000371817.3	+	54	4613	c.4199C>A	c.(4198-4200)cCc>cAc	p.P1400H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1400	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCGCAGGCCCCGAAGGCAGA	0.662																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4198-4200)CCC>CAC		alpha 1 type V collagen preproprotein							91.0	82.0	85.0					9																	137709646		2201	4300	6501	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137709646C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4199C>A	9.37:g.137709646C>A	ENSP00000360882:p.Pro1400His						p.P1400H	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	54	4581	+		Myeloproliferative disorder(178;0.0341)	1400			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4199C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255355	0.59321	.	.	ENSG00000130635	ENST00000371817	D	0.93426	-3.22	5.0	5.0	0.66597	.	0.000000	0.85682	U	0.000000	D	0.95793	0.8631	L	0.59912	1.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.73380	0.98	D	0.95280	0.8385	10	0.44086	T	0.13	.	18.6626	0.91477	0.0:1.0:0.0:0.0	.	1400	P20908	CO5A1_HUMAN	H	1400	ENSP00000360882:P1400H	ENSP00000360882:P1400H	P	+	2	0	COL5A1	136849467	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.689000	0.68234	2.487000	0.83934	0.579000	0.79373	CCC		0.662	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		9	5	1	0	2.80697e-09	0.010729	2.95252e-09	9	5		
COL5A1	1289	broad.mit.edu	37	9	137717708	137717708	+	Silent	SNP	C	C	T	rs560774273		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137717708C>T	ENST00000371817.3	+	63	5439	c.5025C>T	c.(5023-5025)gcC>gcT	p.A1675A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGA	0.592																																						uc004cfe.2		NaN																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5023-5025)GCC>GCT		alpha 1 type V collagen preproprotein							81.0	71.0	74.0					9																	137717708		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717708C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5025C>T	9.37:g.137717708C>T						uc004cff.2_Intron	p.A1675A	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5407	+		Myeloproliferative disorder(178;0.0341)	1675			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5025C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830575	0.16820	.	.	ENSG00000130635	ENST00000371820	.	.	.	4.05	-2.75	0.05914	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	5.618	0.17442	0.0:0.2897:0.1482:0.562	.	.	.	.	W	95	.	.	R	+	1	2	COL5A1	136857529	0.207000	0.23482	0.025000	0.17156	0.713000	0.41058	-0.379000	0.07437	-0.373000	0.07979	0.280000	0.19369	CGG		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		29	61	0	0	0	0.015359	0	29	61		
COL5A1	1289	broad.mit.edu	37	9	137734025	137734025	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137734025C>T	ENST00000371817.3	+	66	5807	c.5393C>T	c.(5392-5394)aCg>aTg	p.T1798M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1798	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACCAGAAGACGGTTCTGGAG	0.522																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5392-5394)ACG>ATG		alpha 1 type V collagen preproprotein							109.0	99.0	103.0					9																	137734025		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137734025C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5393C>T	9.37:g.137734025C>T	ENSP00000360882:p.Thr1798Met					uc004cff.2_Intron	p.T1798M	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	66	5775	+		Myeloproliferative disorder(178;0.0341)	1798			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5393C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337835	0.60963	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.78816	-1.21	4.72	3.8	0.43715	Fibrillar collagen, C-terminal (4);	0.000000	0.64402	U	0.000002	D	0.84252	0.5431	H	0.96365	3.81	0.54753	D	0.999987	D	0.52996	0.957	B	0.42462	0.388	D	0.89672	0.3884	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.9204:0.0:0.0796	.	1798	P20908	CO5A1_HUMAN	M	1798;335	ENSP00000360882:T1798M	ENSP00000347458:T335M	T	+	2	0	COL5A1	136873846	1.000000	0.71417	0.931000	0.37212	0.916000	0.54674	7.587000	0.82613	2.174000	0.68829	0.563000	0.77884	ACG		0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		10	59	0	0	0	0.013537	0	10	59		
EGFL7	51162	broad.mit.edu	37	9	139565433	139565433	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:139565433G>A	ENST00000371699.1	+	8	1514	c.603G>A	c.(601-603)caG>caA	p.Q201Q	EGFL7_ENST00000371698.3_Silent_p.Q201Q|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.Q201Q|EGFL7_ENST00000308874.7_Silent_p.Q201Q|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	201					angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAGAAGTGCAGAGGCTGCAGT	0.697																																						uc004cid.2		NaN																	0				ovary(1)	1						c.(601-603)CAG>CAA		EGF-like-domain, multiple 7							24.0	23.0	23.0					9																	139565433		2159	4266	6425	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139565433G>A	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.603G>A	9.37:g.139565433G>A						EGFL7_uc004cif.2_Silent_p.Q201Q|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.Q201Q|EGFL7_uc004cie.2_Silent_p.Q201Q|EGFL7_uc004cih.2_Silent_p.Q201Q	p.Q201Q	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	8	1514	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	201			Potential.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.603G>A	CCDS7002.1																																																																																				0.697	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1		NM_016215		4	5	0	0	0	0.014758	0	4	5		
HUWE1	10075	broad.mit.edu	37	X	53672365	53672365	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:53672365G>A	ENST00000342160.3	-	6	859	c.402C>T	c.(400-402)gtC>gtT	p.V134V	HUWE1_ENST00000262854.6_Silent_p.V134V|HUWE1_ENST00000218328.8_Silent_p.V134V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	134					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAGATTGAGGACTGCCAGCA	0.458																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(400-402)GTC>GTT		HECT, UBA and WWE domain containing 1							92.0	72.0	79.0					X																	53672365		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53672365G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.402C>T	X.37:g.53672365G>A							p.V134V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			7	804	-			134					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.402C>T	CCDS35301.1																																																																																				0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		17	8	0	0	0	0.008871	0	17	8		
TAZ	6901	broad.mit.edu	37	X	153648555	153648555	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:153648555G>A	ENST00000350743.4	+	8	850	c.561G>A	c.(559-561)atG>atA	p.M187I	TAZ_ENST00000299328.5_Missense_Mutation_p.M217I|TAZ_ENST00000475699.1_Missense_Mutation_p.M190I|TAZ_ENST00000369776.4_Missense_Mutation_p.M187I|TAZ_ENST00000369790.4_Missense_Mutation_p.M173I|TAZ_ENST00000351413.4_Missense_Mutation_p.M203I|TAZ_ENST00000498029.1_3'UTR	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGGAATGAATGACGTCC	0.637																																						uc004fkx.2		NaN																	0					0						c.(649-651)ATG>ATA		tafazzin isoform 1							199.0	168.0	178.0					X																	153648555		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648555G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.561G>A	X.37:g.153648555G>A	ENSP00000338891:p.Met187Ile					TAZ_uc004fky.2_Missense_Mutation_p.M203I|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.M187I|TAZ_uc004flb.2_Missense_Mutation_p.M173I|TAZ_uc010nuy.2_Missense_Mutation_p.M221I|TAZ_uc004flc.3_Missense_Mutation_p.M187I	p.M217I	NM_000116	NP_000107	Q16635	TAZ_HUMAN			9	955	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		217					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.651G>A	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674707	0.88445	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.98792	-3.17;-3.17;-3.17;-3.17;-5.14;-3.17	5.15	5.15	0.70609	Phospholipid/glycerol acyltransferase (1);	0.213774	0.44688	D	0.000425	D	0.98874	0.9619	M	0.87547	2.89	0.58432	D	0.999999	P;D;P;P;P;P	0.58620	0.81;0.983;0.617;0.818;0.881;0.524	B;P;B;B;P;B	0.55222	0.389;0.771;0.242;0.407;0.69;0.138	D	0.99470	1.0945	10	0.72032	D	0.01	-2.6231	15.1385	0.72590	0.0:0.0:1.0:0.0	.	221;187;173;187;203;217	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	I	173;217;187;203;187;190	ENSP00000358805:M173I;ENSP00000299328:M217I;ENSP00000338891:M187I;ENSP00000218246:M203I;ENSP00000358791:M187I;ENSP00000419854:M190I	ENSP00000299328:M217I	M	+	3	0	TAZ	153301749	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.692000	0.91284	2.163000	0.67991	0.525000	0.51046	ATG		0.637	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1				186	52	0	0	0	0.01441	0	186	52		
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						uc001frr.2		NaN																	0				ovary(1)	1						c.(73-75)CTTfs		CD1D antigen precursor							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs					CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.2_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	p.L25fs	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1		NM_001766		7	868	NaN	NaN	NaN	NaN	NaN	7	868	---	---
LRFN4	78999	broad.mit.edu	37	11	66627383	66627383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66627383delG	ENST00000309602.4	+	2	1868	c.1625delG	c.(1624-1626)cggfs	p.R542fs	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	542						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GTTCGGGGCCGGGGGGCCGGA	0.716																																						uc001ojr.2		NaN																	0					0						c.(1624-1626)CGGfs		leucine rich repeat and fibronectin type III			,,,	15,4203		2,11,2096	23.0	21.0	22.0		,,,	3.8	1.0	11		23	35,8125		6,23,4051	no	frameshift,intron,intron,intron	PC,LRFN4	NM_024036.4,NM_022172.2,NM_001040716.1,NM_000920.3	,,,	8,34,6147	A1A1,A1R,RR		0.4289,0.3556,0.4039	,,,	,,,	66627383	50,12328	2181	4268	6449	SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66627383delG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1625delG	11.37:g.66627383delG	ENSP00000312535:p.Arg542fs					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.R542fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1965	+			542			Cytoplasmic (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.1625delG	CCDS8153.1																																																																																				0.716	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		21	58	NaN	NaN	NaN	NaN	NaN	21	58	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6436757	6436759	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:6436757_6436759delGAA	ENST00000396988.3	+	15	2238_2240	c.2008_2010delGAA	c.(2008-2010)gaadel	p.E671del	PLEKHG6_ENST00000449001.2_In_Frame_Del_p.E639del|PLEKHG6_ENST00000304581.8_In_Frame_Del_p.E201del|PLEKHG6_ENST00000011684.7_In_Frame_Del_p.E671del	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	671						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTGGTCTGAGGAAGAAGATGGGG	0.631																																						uc001qnr.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(2008-2010)GAAdel		pleckstrin homology domain-containing family G																																				SO:0001651	inframe_deletion	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436757_6436759delGAA	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2008_2010delGAA	12.37:g.6436760_6436762delGAA	ENSP00000380185:p.Glu671del					PLEKHG6_uc010sew.1_In_Frame_Del_p.E671del|PLEKHG6_uc010sex.1_In_Frame_Del_p.E639del	p.E671del	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			15	2156_2158	+			671					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	In_Frame_Del	DEL	ENST00000396988.3	37	c.2008_2010delGAA	CCDS8541.1																																																																																				0.631	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1		NM_018173		5	6	NaN	NaN	NaN	NaN	NaN	5	6	---	---
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871016	+	Frame_Shift_Ins	INS	-	-	TTCT			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:12871015_12871016insTTCT	ENST00000228872.4	+	1	958_959	c.242_243insTTCT	c.(241-246)aagggcfs	p.K81fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.K81fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTGC	0.614																																						uc001rat.2		NaN																	0				ovary(1)|lung(1)	2						c.(241-243)AAGfs		cyclin-dependent kinase inhibitor 1B																																				SO:0001589	frameshift_variant	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871015_12871016insTTCT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	Exception_encountered	12.37:g.12871015_12871016insTTCT	ENSP00000228872:p.Lys81fs						p.K81fs	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	714_715	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	81					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.242_243insTTCT	CCDS8653.1																																																																																				0.614	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2		NM_004064		72	103	NaN	NaN	NaN	NaN	NaN	72	103	---	---
IL31	386653	broad.mit.edu	37	12	122658748	122658748	+	5'Flank	DEL	G	G	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:122658748delG	ENST00000377035.1	-	0	0					NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31						immune system process (GO:0002376)	extracellular space (GO:0005615)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGCTTCAGTGGGGGCTTCTG	0.572																																						uc001ubv.2		NaN																	0				central_nervous_system(1)	1						c.e1-1		interleukin 31 precursor							47.0	47.0	47.0					12																	122658748		2203	4300	6503	SO:0001631	upstream_gene_variant	386653					extracellular space	cytokine activity	g.chr12:122658748delG	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916		12.37:g.122658748delG	Exception_encountered					LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron		NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)	1	1	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)						A2RUQ1	Splice_Site	DEL	ENST00000377035.1	37	c.-26_splice	CCDS31919.1																																																																																				0.572	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1		NM_001014336		33	48	NaN	NaN	NaN	NaN	NaN	33	48	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs|AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						uc002glc.2		NaN																	0				ovary(2)|skin(1)	3						c.(1942-1944)AGGfs		Rho guanine exchange factor 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs					ARHGEF15_uc002gld.2_Frame_Shift_Ins_p.R648fs|ARHGEF15_uc010vuw.1_Frame_Shift_Ins_p.R537fs	p.R648fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN			12	2063_2064	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		NM_173728		7	812	NaN	NaN	NaN	NaN	NaN	7	812	---	---
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	FAM187A_ENST00000412523.2_Intron|EFTUD2_ENST00000426333.2_5'Flank|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|FAM187A_ENST00000331733.4_5'UTR|AC015936.3_ENST00000441312.1_RNA	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644																																						uc002iho.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	kidney(1)	1						c.(556-561)GCAGAGfs		coiled-coil domain containing 103																																				SO:0001589	frameshift_variant	388389							g.chr17:42980014_42980015delAG	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.558_559delAG	17.37:g.42980024_42980025delAG	ENSP00000391692:p.Glu187fs					CCDC103_uc002ihp.1_5'Flank	p.A186fs	NM_213607	NP_998772	Q8IW40	CC103_HUMAN			4	641_642	+		Prostate(33;0.109)	186_187					A8K145|B8ZZU0	Frame_Shift_Del	DEL	ENST00000417826.2	37	c.558_559delAG	CCDS11490.1																																																																																				0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1		NM_213607		11	116	NaN	NaN	NaN	NaN	NaN	11	116	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(43-45)GGCdel		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_In_Frame_Del_p.G15del|GALR2_uc002jqm.1_5'Flank	p.G15del	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			1	78_80	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		8	118	NaN	NaN	NaN	NaN	NaN	8	118	---	---
KIAA1683	80726	broad.mit.edu	37	19	18378205	18378206	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378205_18378206delTC	ENST00000600328.3	-	3	337_338	c.144_145delGA	c.(142-147)gagaaafs	p.K49fs	KIAA1683_ENST00000392413.4_Frame_Shift_Del_p.K49fs|KIAA1683_ENST00000600359.3_Frame_Shift_Del_p.K3fs			Q9H0B3	K1683_HUMAN	KIAA1683	49						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGAGGCGCTTTCTCCATTTTGT	0.653																																						uc002nin.2		NaN																	0				ovary(2)	2						c.(142-147)GAGAAAfs		KIAA1683 isoform b																																				SO:0001589	frameshift_variant	80726					mitochondrion		g.chr19:18378205_18378206delTC	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.144_145delGA	19.37:g.18378207_18378208delTC	ENSP00000470780:p.Lys49fs					KIAA1683_uc010ebn.2_Frame_Shift_Del_p.E48fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.E2fs	p.E48fs	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	360_361	-			48_49					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Frame_Shift_Del	DEL	ENST00000600328.3	37	c.144_145delGA	CCDS32958.1																																																																																				0.653	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3				64	163	NaN	NaN	NaN	NaN	NaN	64	163	---	---
SPTBN4	57731	broad.mit.edu	37	19	41076449	41076450	+	Frame_Shift_Ins	INS	-	-	A	rs376707355		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:41076449_41076450insA	ENST00000352632.3	+	33	7220_7221	c.7134_7135insA	c.(7135-7137)aagfs	p.K2379fs	SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.K2379fs|SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.K1122fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2379					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			gggaccggcccaagccgcgacg	0.812																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7132-7137)CCCAAGfs		spectrin, beta, non-erythrocytic 4 isoform				40,912		11,18,447						4.4	1.0			2	142,2212		44,54,1079	no	frameshift	SPTBN4	NM_020971.2		55,72,1526	A1A1,A1R,RR		6.0323,4.2017,5.5051				182,3124				SO:0001589	frameshift_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41076449_41076450insA	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7136dupA	19.37:g.41076451_41076451dupA	ENSP00000263373:p.Lys2379fs					SPTBN4_uc002onz.2_Frame_Shift_Ins_p.P2378fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.P1121fs	p.P2378fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		33	7220_7221	+			2378_2379					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Frame_Shift_Ins	INS	ENST00000352632.3	37	c.7134_7135insA	CCDS12559.1																																																																																				0.812	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				6	9	NaN	NaN	NaN	NaN	NaN	6	9	---	---
