#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
SCNN1D	6339	broad.mit.edu	37	1	1221484	1221484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:1221484G>A	ENST00000338555.2	+	4	1389	c.245G>A	c.(244-246)cGc>cAc	p.R82H	SCNN1D_ENST00000400928.3_Missense_Mutation_p.R82H|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R246H|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R148H			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	82					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CGCGGGAACCGCCTCAAGACG	0.692																																						uc001adu.1		NaN																	0					0						c.(244-246)CGC>CAC		sodium channel, nonvoltage-gated 1, delta							26.0	26.0	26.0					1																	1221484		2176	4283	6459	SO:0001583	missense	6339							g.chr1:1221484G>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.245G>A	1.37:g.1221484G>A	ENSP00000339504:p.Arg82His					SCNN1D_uc001adt.1_Missense_Mutation_p.R246H|SCNN1D_uc001adw.2_Missense_Mutation_p.R148H|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R82H	p.R82H	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	6	869	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.245G>A		.	.	.	.	.	.	.	.	.	.	g	14.70	2.613686	0.46631	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000470022;ENST00000325425;ENST00000400928	T;T;D;T;T	0.86164	-0.07;-0.07;-2.08;-0.07;-0.07	4.53	2.61	0.31194	.	0.407520	0.20300	N	0.095052	D	0.92662	0.7668	M	0.84585	2.705	0.22199	N	0.999291	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.959	D	0.84770	0.0767	10	0.87932	D	0	.	8.6212	0.33861	0.2716:0.0:0.7284:0.0	.	82;246	P51172;A6NNF7	SCNND_HUMAN;.	H	113;246;82;118;148;82	ENSP00000368411:R246H;ENSP00000339504:R82H;ENSP00000420548:R118H;ENSP00000321594:R148H;ENSP00000383717:R82H	ENSP00000321594:R148H	R	+	2	0	SCNN1D	1211347	0.000000	0.05858	0.091000	0.20842	0.014000	0.08584	0.073000	0.14640	0.340000	0.23745	0.486000	0.48141	CGC		0.692	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		4	25	0	0	0	0.009096	0	4	25		
CHD5	26038	broad.mit.edu	37	1	6214906	6214906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:6214906C>T	ENST00000262450.3	-	5	658	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCCAGGACGGTCATCATT	0.637																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(559-561)GTC>ATC		chromodomain helicase DNA binding protein 5							58.0	61.0	60.0					1																	6214906		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214906C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.559G>A	1.37:g.6214906C>T	ENSP00000262450:p.Val187Ile						p.V187I	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	659	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	187					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.559G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390638	0.25118	.	.	ENSG00000116254	ENST00000262450	D	0.93019	-3.15	3.84	3.84	0.44239	CHD, N-terminal (1);	0.000000	0.64402	D	0.000008	D	0.87537	0.6202	L	0.31664	0.95	0.80722	D	1	B	0.29115	0.233	B	0.22386	0.039	D	0.84706	0.0731	10	0.17832	T	0.49	-40.0947	16.1333	0.81461	0.0:1.0:0.0:0.0	.	187	Q8TDI0	CHD5_HUMAN	I	187	ENSP00000262450:V187I	ENSP00000262450:V187I	V	-	1	0	CHD5	6137493	0.998000	0.40836	0.993000	0.49108	0.834000	0.47266	3.694000	0.54742	1.876000	0.54355	0.313000	0.20887	GTC		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		61	44	0	0	0	0.01441	0	61	44		
PADI2	11240	broad.mit.edu	37	1	17395694	17395694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17395694C>T	ENST00000375486.4	-	16	1906	c.1843G>A	c.(1843-1845)Gag>Aag	p.E615K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E499K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	615					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACGTGCATCTCCAGGCAGCAT	0.592																																						uc001baf.2		NaN																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1843-1845)GAG>AAG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						102.0	91.0	95.0					1																	17395694		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395694C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1843G>A	1.37:g.17395694C>T	ENSP00000364635:p.Glu615Lys					PADI2_uc010ocm.1_Missense_Mutation_p.E499K	p.E615K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1925	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	615					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1843G>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754913	0.89843	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.32515	1.45;1.45	5.62	5.62	0.85841	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.64202	-0.6463	10	0.49607	T	0.09	-44.1626	18.2248	0.89914	0.0:1.0:0.0:0.0	.	499;615	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	615;499	ENSP00000364635:E615K;ENSP00000405894:E499K	ENSP00000364635:E615K	E	-	1	0	PADI2	17268281	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.488000	0.81441	2.659000	0.90383	0.655000	0.94253	GAG		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				7	98	0	0	0	0.010729	0	7	98		
PADI4	23569	broad.mit.edu	37	1	17682587	17682587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17682587G>A	ENST00000375448.4	+	12	1446	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	474					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACGTGGACGAGTTCCTGAG	0.632																																						uc001baj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1420-1422)GAG>AAG		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						56.0	54.0	55.0					1																	17682587		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17682587G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1420G>A	1.37:g.17682587G>A	ENSP00000364597:p.Glu474Lys						p.E474K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	12	1448	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	474					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.1420G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717660	0.89205	.	.	ENSG00000159339	ENST00000375448	T	0.31247	1.5	4.96	4.05	0.47172	Protein-arginine deiminase, C-terminal (1);	0.054257	0.64402	N	0.000001	T	0.51873	0.1700	H	0.94264	3.515	0.39815	D	0.97276	P	0.38504	0.634	B	0.43658	0.426	T	0.64609	-0.6367	10	0.87932	D	0	-43.5845	12.0665	0.53590	0.0846:0.0:0.9154:0.0	.	474	Q9UM07	PADI4_HUMAN	K	474	ENSP00000364597:E474K	ENSP00000364597:E474K	E	+	1	0	PADI4	17555174	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.952000	0.93031	1.080000	0.41073	-0.140000	0.14226	GAG		0.632	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1		NM_012387		8	48	0	0	0	0.004482	0	8	48		
UBR4	23352	broad.mit.edu	37	1	19423752	19423752	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:19423752T>G	ENST00000375254.3	-	91	13352	c.13325A>C	c.(13324-13326)tAt>tCt	p.Y4442S	UBR4_ENST00000375224.1_Missense_Mutation_p.Y149S|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.Y106S|UBR4_ENST00000375217.2_Missense_Mutation_p.Y4435S|UBR4_ENST00000375226.2_Missense_Mutation_p.Y4418S|UBR4_ENST00000375267.2_Missense_Mutation_p.Y4442S|UBR4_ENST00000429347.2_Missense_Mutation_p.Y5S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4442					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y4442S(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATACGATAAACAATCCT	0.498																																						uc001bbi.2		NaN																	1	Substitution - Missense(1)		skin(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(13324-13326)TAT>TCT		retinoblastoma-associated factor 600							65.0	56.0	59.0					1																	19423752		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19423752T>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13325A>C	1.37:g.19423752T>G	ENSP00000364403:p.Tyr4442Ser					UBR4_uc010ocv.1_Missense_Mutation_p.Y5S|UBR4_uc009vph.2_Missense_Mutation_p.Y76S|UBR4_uc010ocw.1_Missense_Mutation_p.Y106S|UBR4_uc001bbg.2_Missense_Mutation_p.Y153S|UBR4_uc001bbh.2_Missense_Mutation_p.Y151S	p.Y4442S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	91	13329	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4442					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13325A>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873403	0.91664	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.81914	0.992;0.992;0.995;0.986	T	0.80756	-0.1240	10	0.87932	D	0	.	15.4003	0.74834	0.0:0.0:0.0:1.0	.	106;5;4442;4418	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	S	4442;4442;4435;4418;149;5;106	ENSP00000364403:Y4442S;ENSP00000364416:Y4442S;ENSP00000364365:Y4435S;ENSP00000364374:Y4418S;ENSP00000364372:Y149S;ENSP00000394173:Y5S;ENSP00000444070:Y106S	ENSP00000364365:Y4435S	Y	-	2	0	UBR4	19296339	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.455000	0.80726	2.317000	0.78254	0.459000	0.35465	TAT		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		4	51	0	0	0	0.001168	0	4	51		
USP48	84196	broad.mit.edu	37	1	22074693	22074693	+	Missense_Mutation	SNP	C	C	G	rs546738560	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:22074693C>G	ENST00000308271.9	-	7	1494	c.846G>C	c.(844-846)aaG>aaC	p.K282N	USP48_ENST00000529637.1_Missense_Mutation_p.K282N|USP48_ENST00000400301.1_Missense_Mutation_p.K282N|USP48_ENST00000421625.2_Missense_Mutation_p.K282N	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	282	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GAAGTCGAATCTTTCTTGTTG	0.348																																						uc001bfb.2		NaN																	0				ovary(1)|lung(1)	2						c.(844-846)AAG>AAC		ubiquitin specific protease 48 isoform a							184.0	152.0	163.0					1																	22074693		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22074693C>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.846G>C	1.37:g.22074693C>G	ENSP00000309262:p.Lys282Asn					USP48_uc010odq.1_Missense_Mutation_p.K282N|USP48_uc009vqc.2_Missense_Mutation_p.K282N|USP48_uc001bfc.2_Missense_Mutation_p.K282N|USP48_uc001bfe.1_Missense_Mutation_p.K282N|USP48_uc001bff.2_Missense_Mutation_p.K282N	p.K282N	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	7	1084	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	282					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.846G>C	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767787	0.31320	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.61	-0.666	0.11399	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.092531	0.64402	D	0.000001	T	0.32496	0.0831	M	0.63169	1.94	0.44789	D	0.997795	P;B;B;P;P;P	0.44344	0.642;0.232;0.288;0.589;0.646;0.833	B;B;B;B;B;P	0.45971	0.412;0.18;0.189;0.361;0.342;0.499	T	0.06409	-1.0828	10	0.45353	T	0.12	.	9.8801	0.41227	0.0:0.5888:0.0:0.4112	.	282;282;282;282;282;282	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	N	282	ENSP00000383157:K282N;ENSP00000309262:K282N;ENSP00000431949:K282N;ENSP00000406256:K282N	ENSP00000309262:K282N	K	-	3	2	USP48	21947280	0.993000	0.37304	0.931000	0.37212	0.987000	0.75469	0.405000	0.21015	-0.414000	0.07495	-0.253000	0.11424	AAG		0.348	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1		NM_032236		4	25	0	0	0	0.009096	0	4	25		
ZNF436	80818	broad.mit.edu	37	1	23688971	23688971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23688971C>G	ENST00000314011.4	-	4	1040	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	ZNF436_ENST00000374608.3_Missense_Mutation_p.G302R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGCCTCTCCCCTGTGTGGACT	0.522																																						uc001bgt.2		NaN																	0				breast(1)	1						c.(904-906)GGG>CGG		zinc finger protein 436							114.0	107.0	109.0					1																	23688971		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688971C>G	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.904G>C	1.37:g.23688971C>G	ENSP00000313582:p.Gly302Arg					ZNF436_uc001bgu.2_Missense_Mutation_p.G302R	p.G302R	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1285	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	302					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.904G>C	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033518	0.75504	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.26223	1.75;1.75	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.43656	0.1257	L	0.38531	1.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.23726	-1.0180	10	0.72032	D	0.01	-29.0692	17.535	0.87827	0.0:1.0:0.0:0.0	.	302	Q9C0F3	ZN436_HUMAN	R	302	ENSP00000313582:G302R;ENSP00000363736:G302R	ENSP00000313582:G302R	G	-	1	0	ZNF436	23561558	1.000000	0.71417	0.764000	0.31436	0.908000	0.53690	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGG		0.522	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1		NM_030634		22	108	0	0	0	0.021523	0	22	108		
ASAP3	55616	broad.mit.edu	37	1	23763473	23763473	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23763473G>C	ENST00000336689.3	-	15	1451	c.1407C>G	c.(1405-1407)cgC>cgG	p.R469R	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Silent_p.R460R	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	469	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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)			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						CGCCCAGTTCGCGGTGGACGC	0.677																																						uc001bha.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1405-1407)CGC>CGG		ArfGAP with SH3 domain, ankyrin repeat and PH							24.0	23.0	23.0					1																	23763473		2202	4299	6501	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763473G>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.1407C>G	1.37:g.23763473G>C						ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.R338R|ASAP3_uc010oea.1_Silent_p.R460R|ASAP3_uc001bhb.2_5'UTR	p.R469R	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			15	1531	-			469			Arf-GAP.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.1407C>G	CCDS235.1																																																																																				0.677	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		6	29	0	0	0	0.00308	0	6	29		
ARID1A	8289	broad.mit.edu	37	1	27107008	27107008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:27107008C>T	ENST00000324856.7	+	20	6990	c.6619C>T	c.(6619-6621)Cag>Tag	p.Q2207*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q535*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1824*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1990*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2207					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)		TGCCGCCACACAGTTCCAGCA	0.642			"""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.(6619-6621)CAG>TAG		AT rich interactive domain 1A isoform a							68.0	67.0	67.0					1																	27107008		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.chr1:27107008C>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.6619C>T	1.37:g.27107008C>T	ENSP00000320485:p.Gln2207*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1990*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q1053*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q535*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q449*	p.Q2207*	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	6992	+		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)	2207					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.6619C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.472959|9.472959	0.99181|0.99181	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|T	.|0.27720	.|1.65	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.54919	.|0.1888	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58685	.|-0.7593	.|6	0.46703|0.87932	T|D	0.11|0	-5.2557|-5.2557	18.8523|18.8523	0.92237|0.92237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	2207;1990;1824;535|1103	.|ENSP00000390317:T1103I	ENSP00000320485:Q2207X|ENSP00000390317:T1103I	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26979595|26979595	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	5.541000|5.541000	0.67212|0.67212	2.771000|2.771000	0.95319|0.95319	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.642	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		59	65	0	0	0	0.01441	0	59	65		
TTC39A	22996	broad.mit.edu	37	1	51761767	51761767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:51761767C>T	ENST00000447632.2	-	13	1285	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000371747.3_Missense_Mutation_p.E412K|TTC39A_ENST00000262675.7_Missense_Mutation_p.E350K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E378K|TTC39A_ENST00000530004.1_Missense_Mutation_p.E21K|TTC39A_ENST00000451380.1_Missense_Mutation_p.E377K|TTC39A_ENST00000413473.2_Missense_Mutation_p.E381K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	413								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AATTCCACTTCGTCGTCCCCG	0.592																																						uc001csl.2		NaN																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(1237-1239)GAA>AAA		tetratricopeptide repeat domain 39A isoform 2							55.0	64.0	61.0					1																	51761767		2035	4183	6218	SO:0001583	missense	22996						binding	g.chr1:51761767C>T	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1237G>A	1.37:g.51761767C>T	ENSP00000393952:p.Glu413Lys					TTC39A_uc001csk.2_Missense_Mutation_p.E378K|TTC39A_uc010ond.1_Missense_Mutation_p.E350K|TTC39A_uc010one.1_Missense_Mutation_p.E377K|TTC39A_uc010onf.1_Missense_Mutation_p.E381K|TTC39A_uc001csn.2_Missense_Mutation_p.E412K|TTC39A_uc001csj.2_Missense_Mutation_p.E14K	p.E413K	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			13	1342	-			413					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.1237G>A		.	.	.	.	.	.	.	.	.	.	C	28.3	4.905115	0.92035	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906;ENST00000371747	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.09	5.09	0.68999	.	0.158720	0.56097	D	0.000028	T	0.51092	0.1654	L	0.55103	1.725	0.54753	D	0.999988	B;B;D;D;P;D	0.55800	0.246;0.29;0.973;0.973;0.538;0.967	B;B;P;P;B;P	0.51777	0.058;0.096;0.679;0.679;0.157;0.551	T	0.44651	-0.9314	10	0.30078	T	0.28	-4.6345	18.4872	0.90834	0.0:1.0:0.0:0.0	.	381;377;350;377;413;378	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	K	21;413;381;350;377;378;21;412	ENSP00000431228:E21K;ENSP00000393952:E413K;ENSP00000406144:E381K;ENSP00000262675:E350K;ENSP00000397207:E377K;ENSP00000360815:E378K;ENSP00000436659:E21K;ENSP00000360812:E412K	ENSP00000262675:E350K	E	-	1	0	TTC39A	51534355	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.406000	0.66357	2.344000	0.79699	0.563000	0.77884	GAA		0.592	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2				10	4	0	0	0	0.016723	0	10	4		
CC2D1B	200014	broad.mit.edu	37	1	52821911	52821911	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:52821911C>A	ENST00000371586.2	-	18	2157	c.2019G>T	c.(2017-2019)caG>caT	p.Q673H	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q667H|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q48H|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	673						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGTCGAGGCCCTGAGCCTGGG	0.572																																						uc001ctq.1		NaN																	0				ovary(2)	2						c.(2017-2019)CAG>CAT		coiled-coil and C2 domain containing 1B							119.0	119.0	119.0					1																	52821911		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52821911C>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2019G>T	1.37:g.52821911C>A	ENSP00000360642:p.Gln673His					CC2D1B_uc001ctr.2_Missense_Mutation_p.Q213H|CC2D1B_uc001cts.2_Missense_Mutation_p.Q358H	p.Q673H	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			18	2157	-			673					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.2019G>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.71|15.71	2.912682|2.912682	0.52439|0.52439	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831|ENST00000438021;ENST00000450942	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.09|5.09	2.02|2.02	0.26589|0.26589	.|.	0.193258|.	0.45867|.	D|.	0.000332|.	T|T	0.44244|0.44244	0.1284|0.1284	L|L	0.34521|0.34521	1.04|1.04	0.46798|0.46798	D|D	0.999202|0.999202	P;P;P|.	0.47604|.	0.836;0.898;0.836|.	B;P;P|.	0.50617|.	0.444;0.646;0.549|.	T|T	0.17837|0.17837	-1.0356|-1.0356	10|5	0.45353|.	T|.	0.12|.	-13.313|-13.313	7.8932|7.8932	0.29691|0.29691	0.0:0.6467:0.0:0.3533|0.0:0.6467:0.0:0.3533	.|.	453;667;673|.	Q5T0G1;Q5T0F9-2;Q5T0F9|.	.;.;C2D1B_HUMAN|.	H|M	673;667;581;48|454;587	ENSP00000360642:Q673H;ENSP00000284376:Q667H;ENSP00000406300:Q48H|.	ENSP00000284376:Q667H|.	Q|R	-|-	3|2	2|0	CC2D1B|CC2D1B	52594499|52594499	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.448000|0.448000	0.21726|0.21726	0.752000|0.752000	0.32923|0.32923	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1		NM_032449		18	71	1	0	8.10497e-08	0.010504	9.039e-08	18	71		
LRRC7	57554	broad.mit.edu	37	1	70509735	70509735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:70509735G>C	ENST00000035383.5	+	20	3984	c.3954G>C	c.(3952-3954)caG>caC	p.Q1318H	LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Missense_Mutation_p.Q602H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1318						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAACTTGCAGACTAAGTCTA	0.398																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3952-3954)CAG>CAC		leucine rich repeat containing 7							125.0	115.0	119.0					1																	70509735		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70509735G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3954G>C	1.37:g.70509735G>C	ENSP00000035383:p.Gln1318His					LRRC7_uc009wbg.2_Missense_Mutation_p.Q602H|LRRC7_uc001deq.2_Intron	p.Q1318H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			20	3984	+			1318					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3954G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857995	0.51376	.	.	ENSG00000033122	ENST00000035383;ENST00000415775	T;T	0.36699	1.24;2.34	6.16	6.16	0.99307	.	0.181985	0.49305	D	0.000147	T	0.24353	0.0590	N	0.08118	0	0.41794	D	0.989889	D;P	0.55172	0.97;0.764	P;B	0.56042	0.79;0.326	T	0.06899	-1.0801	10	0.21540	T	0.41	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	602;1318	F8WE45;Q96NW7	.;LRRC7_HUMAN	H	1318;602	ENSP00000035383:Q1318H;ENSP00000394867:Q602H	ENSP00000035383:Q1318H	Q	+	3	2	LRRC7	70282323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.695000	0.74593	2.937000	0.99478	0.650000	0.86243	CAG		0.398	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		12	45	0	0	0	0.010729	0	12	45		
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	A	rs368560972		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:112309338G>A	ENST00000369702.4	+	11	2912	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L	DDX20_ENST00000475700.1_Silent_p.L372L	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(2290-2292)CTG>CTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20		G		0,4406		0,0,2203	105.0	104.0	104.0		2292	-11.6	0.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX20	NM_007204.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		764/825	112309338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309338G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2292G>A	1.37:g.112309338G>A						DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L	p.L764L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2649	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	764					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.2292G>A	CCDS842.1																																																																																				0.453	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		9	86	0	0	0	0.004482	0	9	86		
SYT6	148281	broad.mit.edu	37	1	114680320	114680320	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:114680320G>A	ENST00000610222.1	-	3	1014	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SYT6_ENST00000607941.1_Silent_p.L205L|SYT6_ENST00000369547.1_Silent_p.L205L|SYT6_ENST00000393296.1_Silent_p.L290L|SYT6_ENST00000609117.1_Silent_p.L205L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	290	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		GTGGGGTTCAGGGTCTTGCGG	0.557																																						uc001eev.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(613-615)CTG>TTG		synaptotagmin VI							127.0	119.0	121.0					1																	114680320		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680320G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.868C>T	1.37:g.114680320G>A							p.L205L	NM_205848	NP_995320	Q5T7P8	SYT6_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)	3	863	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	290			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.613C>T																																																																																					0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2		NM_205848		14	71	0	0	0	0.004007	0	14	71		
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NaN																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703		5	97	0	0	0	0.014758	0	5	97		
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622																																						uc001etc.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(211-213)TTC>TTG		histone cluster 2, H2be							132.0	121.0	125.0					1																	149857978		2203	4297	6500	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857978G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.213C>G	1.37:g.149857978G>C	ENSP00000358151:p.Phe71Leu					HIST2H2AC_uc001etd.2_5'Flank	p.F71L	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	255	-	Breast(34;0.0124)|all_hematologic(923;0.127)		71					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.213C>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452078	0.63290	.	.	ENSG00000184678	ENST00000369155	T	0.63744	-0.06	5.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.86268	2.805	0.30270	N	0.792314	P	0.44044	0.825	P	0.49752	0.621	T	0.59716	-0.7402	10	0.66056	D	0.02	.	8.9737	0.35921	0.2917:0.0:0.7083:0.0	.	71	Q16778	H2B2E_HUMAN	L	71	ENSP00000358151:F71L	ENSP00000358151:F71L	F	-	3	2	HIST2H2BE	148124602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.842000	0.48230	0.389000	0.25086	0.586000	0.80456	TTC		0.622	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1		NM_003528		152	138	0	0	0	0.01441	0	152	138		
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						uc001fdd.1		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2698-2700)CAG>CAA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T						uc001fdc.1_RNA	p.Q900Q	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3101	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		7	120	0	0	0	0.004482	0	7	120		
NES	10763	broad.mit.edu	37	1	156640211	156640211	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:156640211C>G	ENST00000368223.3	-	4	3901	c.3769G>C	c.(3769-3771)Ggg>Cgg	p.G1257R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1257	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTACTTTCCCCAGGGCTTCA	0.642																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(3769-3771)GGG>CGG		nestin							83.0	94.0	90.0					1																	156640211		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640211C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3769G>C	1.37:g.156640211C>G	ENSP00000357206:p.Gly1257Arg						p.G1257R	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3902	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1257			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3769G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241986	0.39598	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	4.3	4.3	0.51218	.	0.546292	0.13841	N	0.359032	T	0.69975	0.3171	L	0.53249	1.67	0.09310	N	1	P	0.50943	0.94	B	0.36244	0.22	T	0.66492	-0.5910	10	0.72032	D	0.01	.	11.3792	0.49746	0.0:0.6928:0.3072:0.0	.	1257	P48681	NEST_HUMAN	R	1257	ENSP00000357206:G1257R	ENSP00000357206:G1257R	G	-	1	0	NES	154906835	0.000000	0.05858	0.003000	0.11579	0.609000	0.37215	0.549000	0.23329	2.084000	0.62774	0.557000	0.71058	GGG		0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		27	240	0	0	0	0.013726	0	27	240		
FCRL5	83416	broad.mit.edu	37	1	157489551	157489551	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:157489551G>C	ENST00000361835.3	-	13	2799	c.2642C>G	c.(2641-2643)cCt>cGt	p.P881R	FCRL5_ENST00000356953.4_Missense_Mutation_p.P881R|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	881					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCAGAGGCAGGCTTTCTCCC	0.502																																						uc001fqu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2641-2643)CCT>CGT		Fc receptor-like 5							58.0	59.0	59.0					1																	157489551		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157489551G>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2642C>G	1.37:g.157489551G>C	ENSP00000354691:p.Pro881Arg					FCRL5_uc009wsm.2_Missense_Mutation_p.P881R	p.P881R	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			13	2800	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	881			Cytoplasmic (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2642C>G	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.696	-0.792594	0.02884	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.46063	0.88;0.89	4.09	2.07	0.26955	.	2.630260	0.02343	N	0.075095	T	0.15522	0.0374	L	0.59436	1.845	0.09310	N	0.999999	P;B	0.45986	0.87;0.342	B;B	0.35688	0.208;0.024	T	0.10314	-1.0635	10	0.17369	T	0.5	.	6.1504	0.20308	0.2556:0.0:0.7444:0.0	.	881;881	A6NJE8;Q96RD9	.;FCRL5_HUMAN	R	881	ENSP00000354691:P881R;ENSP00000349434:P881R	ENSP00000349434:P881R	P	-	2	0	FCRL5	155756175	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.043000	0.13971	0.408000	0.25621	-0.367000	0.07326	CCT		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281		8	60	0	0	0	0.013537	0	8	60		
DCAF6	55827	broad.mit.edu	37	1	167973115	167973115	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:167973115G>C	ENST00000312263.6	+	9	1209	c.1005G>C	c.(1003-1005)caG>caC	p.Q335H	DCAF6_ENST00000367840.3_Missense_Mutation_p.Q335H|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q304H|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q335H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	335					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAGGAGAGCAGAGTCCCAATG	0.353																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1003-1005)CAG>CAC		IQ motif and WD repeats 1 isoform b							91.0	87.0	88.0					1																	167973115		2203	4299	6502	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167973115G>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1005G>C	1.37:g.167973115G>C	ENSP00000311949:p.Gln335His					DCAF6_uc001gev.2_Missense_Mutation_p.Q335H|DCAF6_uc001gex.2_Missense_Mutation_p.Q335H|DCAF6_uc010plk.1_Missense_Mutation_p.Q304H|DCAF6_uc001gey.2_Missense_Mutation_p.Q188H	p.Q335H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			9	1247	+			335					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1005G>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139075	0.56936	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.81659	-1.51;0.23;-1.51;-1.52	5.24	0.309	0.15820	WD40 repeat-like-containing domain (1);	0.124730	0.56097	D	0.000029	T	0.79587	0.4471	L	0.54323	1.7	0.44702	D	0.997694	D;D;D;D	0.76494	0.996;0.998;0.998;0.999	D;D;D;D	0.87578	0.986;0.996;0.995;0.998	T	0.79279	-0.1869	9	0.66056	D	0.02	.	10.2023	0.43092	0.5468:0.0:0.4532:0.0	.	304;335;335;335	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	H	335;304;335;335	ENSP00000356817:Q335H;ENSP00000396238:Q304H;ENSP00000311949:Q335H;ENSP00000356814:Q335H	ENSP00000311949:Q335H	Q	+	3	2	DCAF6	166239739	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.314000	0.33597	-0.129000	0.11620	-0.469000	0.05056	CAG		0.353	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		3	111	0	0	0	0.009096	0	3	111		
TIPRL	261726	broad.mit.edu	37	1	168169157	168169157	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:168169157T>C	ENST00000367833.2	+	7	837	c.692T>C	c.(691-693)cTc>cCc	p.L231P		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	231	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CCACCTTCCCTCTTCACGGAA	0.343																																						uc001gfg.2		NaN																	0				ovary(1)	1						c.(691-693)CTC>CCC		TIP41, TOR signalling pathway regulator-like							75.0	73.0	73.0					1																	168169157		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168169157T>C	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.692T>C	1.37:g.168169157T>C	ENSP00000356807:p.Leu231Pro					TIPRL_uc001gfh.2_Silent_p.P232P	p.L231P	NM_152902	NP_690866	O75663	TIPRL_HUMAN			7	837	+	all_hematologic(923;0.215)		231			Interaction with PPP2CA.		B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.692T>C	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054630	0.55218	.	.	ENSG00000143155	ENST00000367833	.	.	.	5.91	5.91	0.95273	.	0.120023	0.64402	D	0.000020	T	0.50497	0.1619	M	0.75264	2.295	0.43657	D	0.996077	B	0.15473	0.013	B	0.12156	0.007	T	0.53287	-0.8460	8	0.33141	T	0.24	-17.8483	16.0098	0.80391	0.0:0.0:0.0:1.0	.	231	O75663	TIPRL_HUMAN	P	231	.	ENSP00000356807:L231P	L	+	2	0	TIPRL	166435781	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.056000	0.76662	2.254000	0.74563	0.533000	0.62120	CTC		0.343	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1		NM_152902		123	34	0	0	0	0.01441	0	123	34		
CACNA1E	777	broad.mit.edu	37	1	181680116	181680116	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:181680116T>A	ENST00000367573.2	+	8	1082	c.1082T>A	c.(1081-1083)gTg>gAg	p.V361E	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V361E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V361E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V312E|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V361E|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V312E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	361					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGAGAGAGTGGAGAACCGA	0.522																																						uc001gow.2		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1081-1083)GTG>GAG		calcium channel, voltage-dependent, R type,							67.0	71.0	70.0					1																	181680116		1945	4135	6080	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680116T>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1082T>A	1.37:g.181680116T>A	ENSP00000356545:p.Val361Glu					CACNA1E_uc009wxs.2_Missense_Mutation_p.V268E	p.V361E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1247	+			361			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1082T>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952049	0.92660	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.87097	2.86	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97657	1.0158	10	0.87932	D	0	.	14.9392	0.70980	0.0:0.0:0.0:1.0	.	361;361	Q15878-2;Q15878-3	.;.	E	361;361;361;312;312;361;361	ENSP00000432038:V361E;ENSP00000356542:V361E;ENSP00000434814:V361E;ENSP00000350183:V312E;ENSP00000351101:V312E;ENSP00000353222:V361E;ENSP00000356545:V361E	ENSP00000350183:V312E	V	+	2	0	CACNA1E	179946739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.185000	0.72013	2.009000	0.58944	0.533000	0.62120	GTG		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		6	195	0	0	0	0.00308	0	6	195		
FAM129A	116496	broad.mit.edu	37	1	184777366	184777366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:184777366G>C	ENST00000367511.3	-	10	1370	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	393					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCCGGTCTAGATGCTGCATT	0.433																																						uc001gra.2		NaN																	0				ovary(3)|skin(1)	4						c.(1177-1179)CTA>GTA		niban protein isoform 2							52.0	53.0	53.0					1																	184777366		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777366G>C	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1177C>G	1.37:g.184777366G>C	ENSP00000356481:p.Leu393Val					FAM129A_uc001grb.1_Missense_Mutation_p.L156V|FAM129A_uc009wyh.1_Missense_Mutation_p.L221V|FAM129A_uc009wyi.1_Missense_Mutation_p.L191V	p.L393V	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			10	1371	-			393					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1177C>G	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159789	0.38119	.	.	ENSG00000135842	ENST00000367511	T	0.12672	2.66	5.23	3.09	0.35607	.	0.158127	0.43260	D	0.000595	T	0.07818	0.0196	L	0.28740	0.885	0.31382	N	0.678832	B	0.31435	0.323	B	0.30495	0.116	T	0.13019	-1.0525	10	0.20046	T	0.44	-11.682	4.0901	0.09965	0.2609:0.2802:0.4589:0.0	.	393	Q9BZQ8	NIBAN_HUMAN	V	393	ENSP00000356481:L393V	ENSP00000356481:L393V	L	-	1	2	FAM129A	183043989	0.924000	0.31332	0.612000	0.29024	0.335000	0.28730	0.855000	0.27805	1.195000	0.43115	0.655000	0.94253	CTA		0.433	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1				42	18	0	0	0	0.01441	0	42	18		
CTSE	1510	broad.mit.edu	37	1	206318358	206318358	+	Missense_Mutation	SNP	G	G	A	rs371242472		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:206318358G>A	ENST00000358184.2	+	2	234	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	CTSE_ENST00000432969.2_Intron|CTSE_ENST00000361052.3_Missense_Mutation_p.R39Q|CTSE_ENST00000360218.2_Missense_Mutation_p.R39Q	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	39					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGCGGGCACGGAGCCAGCTC	0.557																																						uc001hdu.2		NaN																	0				ovary(1)	1						c.(115-117)CGG>CAG		cathepsin E isoform a preproprotein		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	63.0	63.0	63.0		116,116	-0.4	0.2	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTSE	NM_001910.3,NM_148964.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	39/397,39/364	206318358	1,13005	2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206318358G>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.116G>A	1.37:g.206318358G>A	ENSP00000350911:p.Arg39Gln					CTSE_uc001hdv.2_Missense_Mutation_p.R39Q|CTSE_uc010prs.1_Intron	p.R39Q	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		2	234	+			39					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.116G>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770010	0.15983	0.0	1.16E-4	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218	T;T;T	0.40756	1.02;1.02;1.02	4.38	-0.44	0.12261	.	0.795058	0.11084	N	0.601524	T	0.17365	0.0417	N	0.16201	0.385	0.09310	N	1	P;B	0.34615	0.459;0.014	B;B	0.21708	0.036;0.005	T	0.14227	-1.0480	10	0.22706	T	0.39	.	4.5113	0.11912	0.4789:0.1623:0.3587:0.0	.	39;39	P14091-2;P14091-1	.;.	Q	39	ENSP00000350911:R39Q;ENSP00000354337:R39Q;ENSP00000353350:R39Q	ENSP00000350911:R39Q	R	+	2	0	CTSE	204484981	0.000000	0.05858	0.157000	0.22605	0.382000	0.30200	-0.546000	0.06062	-0.173000	0.10761	-0.176000	0.13171	CGG		0.557	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1		NM_001910		13	40	0	0	0	0.020292	0	13	40		
ACTN2	88	broad.mit.edu	37	1	236907968	236907968	+	Missense_Mutation	SNP	C	C	T	rs143749154	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:236907968C>T	ENST00000366578.4	+	12	1464	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	ACTN2_ENST00000542672.1_Missense_Mutation_p.S433L|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	433					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGTCGGCGTCGCTGACAGAG	0.602													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20273	0.0		0.0	False		,,,				2504	0.0					uc001hyf.2		NaN																	0				ovary(4)|skin(1)	5						c.(1297-1299)TCG>TTG		actinin, alpha 2		C	LEU/SER	46,4360	46.7+/-81.2	0,46,2157	56.0	50.0	52.0		1298	5.2	0.0	1	dbSNP_134	52	0,8600		0,0,4300	yes	missense	ACTN2	NM_001103.2	145	0,46,6457	TT,TC,CC		0.0,1.044,0.3537	benign	433/895	236907968	46,12960	2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236907968C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1298C>T	1.37:g.236907968C>T	ENSP00000355537:p.Ser433Leu					ACTN2_uc001hyg.2_Missense_Mutation_p.S225L|ACTN2_uc009xgi.1_Missense_Mutation_p.S433L|ACTN2_uc010pxu.1_Missense_Mutation_p.S122L|ACTN2_uc001hyh.2_Missense_Mutation_p.S121L	p.S433L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1502	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	433			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1298C>T	CCDS1613.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.45	2.837330	0.50951	0.01044	0.0	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.54675	0.56;0.56	5.17	5.17	0.71159	.	0.312403	0.40222	N	0.001155	T	0.40322	0.1112	L	0.52905	1.665	0.80722	D	1	B;P;B;P	0.42203	0.106;0.55;0.283;0.773	B;B;B;B	0.33454	0.042;0.06;0.042;0.164	T	0.54931	-0.8219	10	0.59425	D	0.04	.	19.0257	0.92931	0.0:1.0:0.0:0.0	.	218;433;203;433	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	L	433;433;202	ENSP00000443495:S433L;ENSP00000355537:S433L	ENSP00000355537:S433L	S	+	2	0	ACTN2	234974591	0.909000	0.30893	0.009000	0.14445	0.019000	0.09904	7.799000	0.85936	2.546000	0.85860	0.563000	0.77884	TCG		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103		38	22	0	0	0	0.00874	0	38	22		
DHTKD1	55526	broad.mit.edu	37	10	12148334	12148334	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:12148334G>T	ENST00000263035.4	+	11	2048	c.1986G>T	c.(1984-1986)gaG>gaT	p.E662D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	662					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCCTGTGGGAGGCACAGTTTG	0.527																																						uc001ild.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1984-1986)GAG>GAT		dehydrogenase E1 and transketolase domain							208.0	183.0	192.0					10																	12148334		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148334G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1986G>T	10.37:g.12148334G>T	ENSP00000263035:p.Glu662Asp						p.E662D	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2085	+		Renal(717;0.228)	662					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1986G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149915	0.78001	.	.	ENSG00000181192	ENST00000263035	D	0.93811	-3.29	6.01	3.11	0.35812	Transketolase-like, pyrimidine-binding domain (2);	0.269982	0.42294	D	0.000735	D	0.96297	0.8792	H	0.95470	3.675	0.58432	D	0.999994	P	0.34892	0.474	P	0.47827	0.558	D	0.95802	0.8834	10	0.87932	D	0	-16.7326	9.1782	0.37125	0.3108:0.0:0.6892:0.0	.	662	Q96HY7	DHTK1_HUMAN	D	662	ENSP00000263035:E662D	ENSP00000263035:E662D	E	+	3	2	DHTKD1	12188340	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.829000	0.48128	0.864000	0.35578	0.638000	0.83543	GAG		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		NM_018706		6	157	1	0	0.000157383	0.00308	0.000170451	6	157		
CUBN	8029	broad.mit.edu	37	10	17083214	17083214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17083214C>T	ENST00000377833.4	-	27	3900	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1279	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACATTCTCACATGCTGGA	0.348																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3835-3837)GAG>AAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						116.0	114.0	115.0					10																	17083214		2203	4299	6502	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17083214C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3835G>A	10.37:g.17083214C>T	ENSP00000367064:p.Glu1279Lys						p.E1279K	NM_001081	NP_001072	O60494	CUBN_HUMAN			27	3887	-			1279			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3835G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.705	0.131042	0.08981	.	.	ENSG00000107611	ENST00000377833	T	0.28454	1.61	5.84	2.46	0.29980	CUB (5);	1.180480	0.06269	N	0.695393	T	0.17619	0.0423	N	0.17082	0.46	0.32910	D	0.514333	B	0.13145	0.007	B	0.12837	0.008	T	0.35574	-0.9783	10	0.08179	T	0.78	.	7.2211	0.25988	0.0:0.5625:0.2911:0.1464	.	1279	O60494	CUBN_HUMAN	K	1279	ENSP00000367064:E1279K	ENSP00000367064:E1279K	E	-	1	0	CUBN	17123220	0.976000	0.34144	0.148000	0.22405	0.581000	0.36288	0.458000	0.21892	0.586000	0.29626	0.561000	0.74099	GAG		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		10	74	0	0	0	0.020292	0	10	74		
CUBN	8029	broad.mit.edu	37	10	17107557	17107557	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17107557A>T	ENST00000377833.4	-	22	3154	c.3089T>A	c.(3088-3090)cTc>cAc	p.L1030H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1030	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATAAGCGAGGTCGGAGTC	0.428																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3088-3090)CTC>CAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						217.0	193.0	201.0					10																	17107557		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107557A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3089T>A	10.37:g.17107557A>T	ENSP00000367064:p.Leu1030His						p.L1030H	NM_001081	NP_001072	O60494	CUBN_HUMAN			22	3141	-			1030			CUB 5.	Calcium 1; via carbonyl oxygen.	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3089T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814146	0.70912	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.92	5.92	0.95590	CUB (5);	0.183845	0.26334	N	0.024964	T	0.37919	0.1021	L	0.41356	1.27	0.80722	D	1	D	0.62365	0.991	P	0.54664	0.758	T	0.20371	-1.0277	10	0.87932	D	0	.	10.6662	0.45732	0.929:0.0:0.071:0.0	.	1030	O60494	CUBN_HUMAN	H	1030	ENSP00000367064:L1030H	ENSP00000367064:L1030H	L	-	2	0	CUBN	17147563	0.938000	0.31826	0.983000	0.44433	0.852000	0.48524	5.120000	0.64685	2.267000	0.75376	0.528000	0.53228	CTC		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		33	196	0	0	0	0.015359	0	33	196		
STOX1	219736	broad.mit.edu	37	10	70645483	70645483	+	Missense_Mutation	SNP	G	G	A	rs547404717	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:70645483G>A	ENST00000298596.6	+	3	2014	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	STOX1_ENST00000421961.2_Missense_Mutation_p.R534Q|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R644Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	644						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCCATCACGAGGTGCCTCC	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		23322	0.0		0.0	False		,,,				2504	0.0					uc001jos.2		NaN																	0				kidney(1)|skin(1)	2						c.(1930-1932)CGA>CAA		storkhead box 1 isoform a							125.0	118.0	120.0					10																	70645483		1920	4138	6058	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645483G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1931G>A	10.37:g.70645483G>A	ENSP00000298596:p.Arg644Gln					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.R534Q	p.R644Q	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	2018	+			644					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1931G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.257383	0.00265	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.73897	-0.79;-0.79;-0.47	5.84	-11.7	0.00046	.	2.703000	0.00819	N	0.001565	T	0.35537	0.0935	N	0.00823	-1.155	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.37244	-0.9714	10	0.08179	T	0.78	.	7.7197	0.28725	0.1102:0.3878:0.3719:0.1301	.	644	Q6ZVD7	STOX1_HUMAN	Q	644;644;534	ENSP00000382121:R644Q;ENSP00000298596:R644Q;ENSP00000394509:R534Q	ENSP00000298596:R644Q	R	+	2	0	STOX1	70315489	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.339000	0.01102	-5.112000	0.00021	-1.910000	0.00522	CGA		0.453	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3		NM_152709		21	73	0	0	0	0.00632	0	21	73		
GBF1	8729	broad.mit.edu	37	10	104129518	104129518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104129518G>C	ENST00000369983.3	+	25	3458	c.3198G>C	c.(3196-3198)gaG>gaC	p.E1066D		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1066					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCGGGAAGAGACACCATCAA	0.483																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3196-3198)GAG>GAC		golgi-specific brefeldin A resistant guanine							90.0	89.0	90.0					10																	104129518		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104129518G>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3198G>C	10.37:g.104129518G>C	ENSP00000359000:p.Glu1066Asp					GBF1_uc001kuy.1_Missense_Mutation_p.E1066D|GBF1_uc001kuz.1_Missense_Mutation_p.E1067D	p.E1066D	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	25	3438	+		Colorectal(252;0.0236)	1066					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3198G>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822659	0.50739	.	.	ENSG00000107862	ENST00000369983	T	0.11169	2.8	5.13	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.63428	1.95	0.51012	D	0.999904	D;D;D	0.76494	0.984;0.965;0.999	P;P;D	0.76071	0.53;0.65;0.987	T	0.00775	-1.1571	10	0.19590	T	0.45	-18.6734	10.4751	0.44659	0.1577:0.0:0.8423:0.0	.	1066;1066;1066	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	D	1066	ENSP00000359000:E1066D	ENSP00000359000:E1066D	E	+	3	2	GBF1	104119508	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.059000	0.41384	2.666000	0.90696	0.650000	0.86243	GAG		0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				16	38	0	0	0	0.012319	0	16	38		
GBF1	8729	broad.mit.edu	37	10	104142018	104142018	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104142018C>T	ENST00000369983.3	+	40	5765	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1835	Pro-rich.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGCTCATCGAGGCCACCT	0.637																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5503-5505)ATC>ATT		golgi-specific brefeldin A resistant guanine							109.0	98.0	102.0					10																	104142018		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104142018C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5505C>T	10.37:g.104142018C>T						GBF1_uc001kuy.1_Silent_p.I1831I|GBF1_uc001kuz.1_Silent_p.I1832I	p.I1835I	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	40	5745	+		Colorectal(252;0.0236)	1835			Pro-rich.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.5505C>T	CCDS7533.1																																																																																				0.637	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				43	160	0	0	0	0.01441	0	43	160		
OSBPL5	114879	broad.mit.edu	37	11	3125474	3125474	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:3125474G>C	ENST00000263650.7	-	10	1352	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	OSBPL5_ENST00000348039.5_Missense_Mutation_p.S330C|OSBPL5_ENST00000389989.3_Missense_Mutation_p.S330C|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S29C|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S309C	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	398					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTTCAGGAAGGAGCGCGGCTC	0.627																																						uc001lxk.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1192-1194)TCC>TGC		oxysterol-binding protein-like protein 5 isoform							111.0	88.0	96.0					11																	3125474		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3125474G>C	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1193C>G	11.37:g.3125474G>C	ENSP00000263650:p.Ser398Cys					OSBPL5_uc010qxq.1_Missense_Mutation_p.S309C|OSBPL5_uc009ydw.2_Missense_Mutation_p.S330C|OSBPL5_uc001lxl.2_Missense_Mutation_p.S330C|OSBPL5_uc009ydx.2_Missense_Mutation_p.S422C	p.S398C	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	10	1351	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	398					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1193C>G	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760100	0.89932	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.35	4.35	0.52113	.	0.155134	0.44688	D	0.000437	D	0.84977	0.5592	H	0.97940	4.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.992;0.996;0.992;0.999	D	0.91275	0.5047	10	0.87932	D	0	-0.2355	17.1145	0.86685	0.0:0.0:1.0:0.0	.	309;359;330;398	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	C	398;330;309;29;330;17	ENSP00000263650:S398C;ENSP00000374639:S330C;ENSP00000433342:S309C;ENSP00000441551:S29C;ENSP00000302872:S330C	ENSP00000263650:S398C	S	-	2	0	OSBPL5	3082050	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.835000	0.92100	2.257000	0.74773	0.555000	0.69702	TCC		0.627	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2				17	48	0	0	0	0.010504	0	17	48		
OR5I1	10798	broad.mit.edu	37	11	55702943	55702943	+	Missense_Mutation	SNP	C	C	G	rs532421612		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:55702943C>G	ENST00000301532.3	-	1	933	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	312					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CATGAAGAATCTACCTTTGAT	0.353																																						uc010ris.1		NaN																	0				ovary(1)	1						c.(934-936)GAT>CAT		olfactory receptor, family 5, subfamily I,							61.0	59.0	60.0					11																	55702943		2200	4293	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55702943C>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.934G>C	11.37:g.55702943C>G	ENSP00000301532:p.Asp312His						p.D312H	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	934	-			312			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.934G>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	5.190	0.220612	0.09863	.	.	ENSG00000167825	ENST00000301532	T	0.00421	7.46	4.81	-1.1	0.09872	.	3.553810	0.00604	N	0.000382	T	0.00178	0.0005	N	0.04203	-0.255	0.09310	N	1	B	0.25169	0.119	B	0.21546	0.035	T	0.37478	-0.9704	10	0.15066	T	0.55	.	1.3882	0.02245	0.2742:0.4035:0.1432:0.1791	.	312	Q13606	OR5I1_HUMAN	H	312	ENSP00000301532:D312H	ENSP00000301532:D312H	D	-	1	0	OR5I1	55459519	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.780000	0.01775	-0.076000	0.12775	-0.152000	0.13540	GAT		0.353	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1		NM_006637		3	21	0	0	0	0.004672	0	3	21		
OR8K3	219473	broad.mit.edu	37	11	56085843	56085843	+	Missense_Mutation	SNP	G	G	A	rs572959729		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:56085843G>A	ENST00000312711.1	+	1	61	c.61G>A	c.(61-63)Gct>Act	p.A21T		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CACAGATATCGCTGAGCTGCA	0.438																																						uc010rjf.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(61-63)GCT>ACT		olfactory receptor, family 8, subfamily K,							175.0	157.0	163.0					11																	56085843		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085843G>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.61G>A	11.37:g.56085843G>A	ENSP00000323555:p.Ala21Thr						p.A21T	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	61	+	Esophageal squamous(21;0.00448)		21			Extracellular (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.61G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	6.977	0.550369	0.13374	.	.	ENSG00000181689	ENST00000312711	T	0.00433	7.43	4.84	2.95	0.34219	.	0.222160	0.31989	N	0.006752	T	0.00210	0.0006	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46484	-0.9188	10	0.66056	D	0.02	.	4.9487	0.14002	0.1515:0.6126:0.1513:0.0845	.	21	Q8NH51	OR8K3_HUMAN	T	21	ENSP00000323555:A21T	ENSP00000323555:A21T	A	+	1	0	OR8K3	55842419	.	.	0.698000	0.30274	0.001000	0.01503	.	.	1.392000	0.46585	-0.166000	0.13349	GCT		0.438	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1		NM_001005202		42	102	0	0	0	0.01441	0	42	102		
OR5B17	219965	broad.mit.edu	37	11	58125948	58125948	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:58125948G>T	ENST00000357377.3	-	1	594	c.595C>A	c.(595-597)Ctt>Att	p.L199I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTGATATAAGAACAAGAATC	0.363																																						uc010rke.1		NaN																	0				ovary(2)|skin(1)	3						c.(595-597)CTT>ATT		olfactory receptor, family 5, subfamily B,							68.0	61.0	64.0					11																	58125948		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125948G>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.595C>A	11.37:g.58125948G>T	ENSP00000349945:p.Leu199Ile						p.L199I	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	595	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	199			Helical; Name=5; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.595C>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.086784	0.00367	.	.	ENSG00000197786	ENST00000357377	T	0.00058	8.79	3.27	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	1.489940	0.04879	N	0.447370	T	0.00073	0.0002	N	0.05124	-0.11	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.41215	-0.9521	10	0.02654	T	1	-5.4319	2.5617	0.04773	0.2975:0.0936:0.4232:0.1858	.	199	Q8NGF7	OR5BH_HUMAN	I	199	ENSP00000349945:L199I	ENSP00000349945:L199I	L	-	1	0	OR5B17	57882524	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.172000	0.00572	-2.956000	0.00291	-0.677000	0.03784	CTT		0.363	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2		NM_001005489		3	37	1	0	0.00909568	0.009096	0.00950768	3	37		
PITPNM1	9600	broad.mit.edu	37	11	67267792	67267792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:67267792C>G	ENST00000534749.1	-	5	929	c.741G>C	c.(739-741)gaG>gaC	p.E247D	PITPNM1_ENST00000356404.3_Missense_Mutation_p.E247D|PITPNM1_ENST00000436757.2_Missense_Mutation_p.E247D			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	247					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						TGCGAGCAGTCTCCTCTTCCA	0.682																																					GBM(28;144 709 4607 5525)	uc001olx.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(739-741)GAG>GAC		phosphatidylinositol transfer protein,							83.0	83.0	83.0					11																	67267792		2200	4292	6492	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.chr11:67267792C>G	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.741G>C	11.37:g.67267792C>G	ENSP00000437286:p.Glu247Asp					PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E247D|PITPNM1_uc001olz.2_Missense_Mutation_p.E247D	p.E247D	NM_004910	NP_004901	O00562	PITM1_HUMAN			5	930	-			247					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.741G>C	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349435	0.61183	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.48836	0.8;0.8;0.8	4.02	2.13	0.27403	START-like domain (1);	0.000000	0.53938	D	0.000046	T	0.58206	0.2106	L	0.59967	1.855	0.35042	D	0.759844	P;D	0.76494	0.832;0.999	P;D	0.76575	0.525;0.988	T	0.66308	-0.5956	10	0.62326	D	0.03	-28.9349	6.9862	0.24729	0.0:0.7002:0.0:0.2998	.	247;247	O00562-2;O00562	.;PITM1_HUMAN	D	247	ENSP00000437286:E247D;ENSP00000398787:E247D;ENSP00000348772:E247D	ENSP00000348772:E247D	E	-	3	2	PITPNM1	67024368	0.997000	0.39634	0.999000	0.59377	0.973000	0.67179	0.511000	0.22739	1.054000	0.40438	0.555000	0.69702	GAG		0.682	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910		57	260	0	0	0	0.01441	0	57	260		
CPT1A	1374	broad.mit.edu	37	11	68525172	68525172	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:68525172C>G	ENST00000265641.5	-	19	2416	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L	CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Silent_p.L754L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	754					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TTGCTTCTTTCAGGTGCCTTC	0.398																																						uc001oog.3		NaN																	0				skin(2)	2						c.(2260-2262)CTG>CTC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						122.0	117.0	119.0					11																	68525172		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68525172C>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2262G>C	11.37:g.68525172C>G						CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron	p.L754L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		19	2432	-	Esophageal squamous(3;3.28e-14)		754			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.2262G>C	CCDS8185.1																																																																																				0.398	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2		NM_001876		9	39	0	0	0	0.008291	0	9	39		
ATM	472	broad.mit.edu	37	11	108216494	108216494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:108216494G>A	ENST00000452508.2	+	59	8632	c.8443G>A	c.(8443-8445)Gag>Aag	p.E2815K	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2815K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2815	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K2810fs*1(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTCTTTTGAAGAGAAATATGA	0.269			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		1	Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8443-8445)GAG>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							103.0	108.0	106.0					11																	108216494		2200	4298	6498	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108216494G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8443G>A	11.37:g.108216494G>A	ENSP00000388058:p.Glu2815Lys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E2815K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1467K	p.E2815K	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	58	8828	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2815			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8443G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518280	0.85495	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01548	4.78;4.78	5.56	4.65	0.58169	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.218329	0.46758	N	0.000278	T	0.03095	0.0091	N	0.19112	0.55	0.80722	D	1	P	0.49961	0.93	P	0.54401	0.751	T	0.69499	-0.5129	10	0.24483	T	0.36	.	14.337	0.66598	0.0714:0.0:0.9286:0.0	.	2815	Q13315	ATM_HUMAN	K	2815	ENSP00000278616:E2815K;ENSP00000388058:E2815K	ENSP00000278616:E2815K	E	+	1	0	ATM	107721704	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.296000	0.65698	1.346000	0.45694	0.650000	0.86243	GAG		0.269	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		3	67	0	0	0	0.009096	0	3	67		
C11orf63	79864	broad.mit.edu	37	11	122756667	122756667	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:122756667G>A	ENST00000531316.1	+	1	202	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	C11orf63_ENST00000227349.2_Missense_Mutation_p.R37Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.R37Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	37					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.R37Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACTTACATCGGATTTCAAAA	0.433																																						uc001pym.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)	3						c.(109-111)CGG>CAG		hypothetical protein LOC79864 isoform 1							93.0	97.0	95.0					11																	122756667		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122756667G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.110G>A	11.37:g.122756667G>A	ENSP00000431669:p.Arg37Gln					C11orf63_uc001pyl.1_Missense_Mutation_p.R37Q	p.R37Q	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	407	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	37					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.110G>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	8.689	0.906897	0.17833	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.42513	0.97;0.97	5.49	-2.21	0.06973	.	1.391060	0.04983	N	0.466009	T	0.25791	0.0628	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.001;0.002	T	0.16928	-1.0386	10	0.25106	T	0.35	3.0849	5.5326	0.16993	0.5162:0.0:0.2449:0.2389	.	37;37	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	37	ENSP00000227349:R37Q;ENSP00000431669:R37Q	ENSP00000227349:R37Q	R	+	2	0	C11orf63	122261877	0.000000	0.05858	0.047000	0.18901	0.406000	0.30931	-0.589000	0.05767	-0.222000	0.09958	-0.262000	0.10625	CGG		0.433	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		23	55	0	0	0	0.012319	0	23	55		
TMEM225	338661	broad.mit.edu	37	11	123753889	123753889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:123753889G>C	ENST00000375026.2	-	4	850	c.634C>G	c.(634-636)Cta>Gta	p.L212V		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	212					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTTTTGTTTAGGGAATTCACA	0.408																																						uc001pzi.2		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(634-636)CTA>GTA		transmembrane protein 225							185.0	170.0	175.0					11																	123753889		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753889G>C	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.634C>G	11.37:g.123753889G>C	ENSP00000364166:p.Leu212Val						p.L212V	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			4	842	-			212						Missense_Mutation	SNP	ENST00000375026.2	37	c.634C>G	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	7.852	0.724135	0.15439	.	.	ENSG00000204300	ENST00000375026	T	0.30714	1.52	3.8	-2.98	0.05513	.	2.353620	0.02049	N	0.049914	T	0.16514	0.0397	N	0.19112	0.55	0.09310	N	1	B	0.30439	0.279	B	0.26770	0.073	T	0.06679	-1.0813	10	0.33940	T	0.23	21.6651	1.8934	0.03252	0.1039:0.2687:0.2315:0.3959	.	212	Q6GV28	TM225_HUMAN	V	212	ENSP00000364166:L212V	ENSP00000364166:L212V	L	-	1	2	TMEM225	123259099	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.178000	0.01260	-0.528000	0.06366	0.655000	0.94253	CTA		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1		NM_001013743		15	72	0	0	0	0.004007	0	15	72		
ROBO4	54538	broad.mit.edu	37	11	124763844	124763844	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:124763844G>C	ENST00000306534.3	-	9	1901	c.1416C>G	c.(1414-1416)gcC>gcG	p.A472A	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.A327A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	472					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACCGCAGGTGGCAATGACCT	0.652																																						uc001qbg.2		NaN																	0				ovary(1)|skin(1)	2						c.(1414-1416)GCC>GCG		roundabout homolog 4, magic roundabout							36.0	35.0	35.0					11																	124763844		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763844G>C	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1416C>G	11.37:g.124763844G>C						ROBO4_uc010sas.1_Silent_p.A327A|ROBO4_uc001qbh.2_Silent_p.A362A|ROBO4_uc001qbi.2_Silent_p.A30A|ROBO4_uc010sat.1_Silent_p.A30A	p.A472A	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	9	1556	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	472					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.1416C>G	CCDS8455.1																																																																																				0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055		4	25	0	0	0	0.001984	0	4	25		
KIRREL3	84623	broad.mit.edu	37	11	126314964	126314964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:126314964C>T	ENST00000525144.2	-	10	1411	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V388M|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V388M	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	388	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCTGGCGCACGGATTTGAGG	0.617																																						uc001qea.2		NaN																	0				ovary(3)	3						c.(1162-1164)GTG>ATG		kin of IRRE like 3 isoform 1							47.0	51.0	49.0					11																	126314964		2085	4206	6291	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126314964C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1162G>A	11.37:g.126314964C>T	ENSP00000435466:p.Val388Met					KIRREL3_uc001qeb.2_Missense_Mutation_p.V388M|KIRREL3_uc001qec.1_Missense_Mutation_p.V388M	p.V388M	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	10	1523	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	388			Extracellular (Potential).|Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1162G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085498	0.94100	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.72167	-0.63;-0.63;-0.63	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.995;0.997	D	0.87702	0.2561	10	0.87932	D	0	.	18.8201	0.92092	0.0:1.0:0.0:0.0	.	388;388;388	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	M	388	ENSP00000435466:V388M;ENSP00000434081:V388M;ENSP00000435094:V388M	ENSP00000435466:V388M	V	-	1	0	KIRREL3	125820174	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.745000	0.85046	2.610000	0.88304	0.551000	0.68910	GTG		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2		NM_032531		15	59	0	0	0	0.00499	0	15	59		
ARHGAP32	9743	broad.mit.edu	37	11	128856559	128856559	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:128856559C>T	ENST00000310343.9	-	13	1260	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E72K|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E72K|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E347K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	421	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						GAGTCAAATTCATGGCTGACG	0.453																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(1261-1263)GAA>AAA		Rho GTPase-activating protein isoform 1							100.0	88.0	92.0					11																	128856559		2201	4297	6498	SO:0001583	missense	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.chr11:128856559C>T	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.1261G>A	11.37:g.128856559C>T	ENSP00000310561:p.Glu421Lys					ARHGAP32_uc009zcq.1_Missense_Mutation_p.E381K|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.E72K|ARHGAP32_uc001qfb.2_Missense_Mutation_p.E206K	p.E421K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			13	1261	-			421			Rho-GAP.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1261G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134397	0.77662	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.82	5.82	0.92795	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.048852	0.85682	D	0.000000	T	0.40171	0.1106	L	0.39898	1.24	0.80722	D	1	D;D;P	0.64830	0.994;0.991;0.555	D;P;B	0.69479	0.964;0.814;0.271	T	0.04708	-1.0932	10	0.56958	D	0.05	.	19.696	0.96026	0.0:1.0:0.0:0.0	.	355;421;239	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	K	421;72;347;355;72;131	ENSP00000310561:E421K;ENSP00000376425:E72K;ENSP00000432468:E347K;ENSP00000432862:E72K	ENSP00000310561:E421K	E	-	1	0	ARHGAP32	128361769	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.484000	0.81180	2.734000	0.93682	0.655000	0.94253	GAA		0.453	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		14	49	0	0	0	0.003163	0	14	49		
ADAMTS15	170689	broad.mit.edu	37	11	130341218	130341218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:130341218G>C	ENST00000299164.2	+	7	2018	c.2018G>C	c.(2017-2019)gGg>gCg	p.G673A		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	673	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACAAGTGTGGGGTGTGTGGG	0.567																																						uc010scd.1		NaN																	0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2017-2019)GGG>GCG		a disintegrin-like and metalloprotease							145.0	146.0	146.0					11																	130341218		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130341218G>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2018G>C	11.37:g.130341218G>C	ENSP00000299164:p.Gly673Ala						p.G673A	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	2018	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	673			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2018G>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546047	0.86022	.	.	ENSG00000166106	ENST00000299164	T	0.74737	-0.87	5.97	5.97	0.96955	.	.	.	.	.	D	0.86226	0.5882	H	0.94306	3.52	0.80722	D	1	P	0.49635	0.926	P	0.47528	0.549	D	0.88920	0.3365	9	0.56958	D	0.05	.	20.4157	0.99026	0.0:0.0:1.0:0.0	.	673	Q8TE58	ATS15_HUMAN	A	673	ENSP00000299164:G673A	ENSP00000299164:G673A	G	+	2	0	ADAMTS15	129846428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.431000	0.97494	2.825000	0.97269	0.655000	0.94253	GGG		0.567	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1		NM_139055		9	78	0	0	0	0.006214	0	9	78		
IGSF9B	22997	broad.mit.edu	37	11	133790010	133790010	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:133790010G>C	ENST00000321016.8	-	18	3840	c.3610C>G	c.(3610-3612)Ctg>Gtg	p.L1204V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1204V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1204	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTTGGGTCAGAGGTGAGAGC	0.711																																						uc001qgx.3		NaN																	0					0						c.(3610-3612)CTG>GTG		immunoglobulin superfamily, member 9B							31.0	37.0	35.0					11																	133790010		1885	4083	5968	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790010G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3610C>G	11.37:g.133790010G>C	ENSP00000317980:p.Leu1204Val						p.L1204V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3841	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1204			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3610C>G		.	.	.	.	.	.	.	.	.	.	G	21.2	4.114162	0.77210	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76316	-0.71;-1.01	5.28	5.28	0.74379	.	0.000000	0.35040	N	0.003500	T	0.81814	0.4902	L	0.27053	0.805	0.47949	D	0.99955	D	0.63880	0.993	D	0.67548	0.952	D	0.84449	0.0587	10	0.87932	D	0	.	18.4928	0.90853	0.0:0.0:1.0:0.0	.	1204	Q9UPX0	TUTLB_HUMAN	V	1204;1046	ENSP00000317980:L1204V;ENSP00000436552:L1046V	ENSP00000317980:L1204V	L	-	1	2	IGSF9B	133295220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.363000	0.73082	2.464000	0.83262	0.555000	0.69702	CTG		0.711	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		28	93	0	0	0	0.008361	0	28	93		
IQSEC3	440073	broad.mit.edu	37	12	247681	247681	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:247681G>A	ENST00000538872.1	+	4	1270	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.S384S|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.S81S			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	384					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTGCGCTCGCCCTCCCTGC	0.697																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(241-243)TCG>TCA		IQ motif and Sec7 domain 3							17.0	17.0	17.0					12																	247681		2188	4294	6482	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247681G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1152G>A	12.37:g.247681G>A						IQSEC3_uc001qhu.1_Silent_p.S81S|IQSEC3_uc001qht.1_Silent_p.S166S|uc001qhv.1_Intron	p.S81S	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	249	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		384					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.243G>A	CCDS53728.1																																																																																				0.697	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		3	5	0	0	0	0.004672	0	3	5		
FBXL14	144699	broad.mit.edu	37	12	1702939	1702939	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:1702939G>A	ENST00000339235.3	-	1	392	c.294C>T	c.(292-294)agC>agT	p.S98S	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	98					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TGTAGCAGCCGCTGAGGTTGA	0.652																																						uc001qjh.2		NaN																	0				ovary(1)	1						c.(292-294)AGC>AGT		F-box and leucine-rich repeat protein 14							45.0	51.0	49.0					12																	1702939		2203	4300	6503	SO:0001819	synonymous_variant	144699					cytoplasm		g.chr12:1702939G>A	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.294C>T	12.37:g.1702939G>A						WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Silent_p.S10S	p.S98S	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	393	-	Ovarian(42;0.107)		98						Silent	SNP	ENST00000339235.3	37	c.294C>T	CCDS8509.1																																																																																				0.652	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1		NM_152441		14	75	0	0	0	0.006122	0	14	75		
NCAPD2	9918	broad.mit.edu	37	12	6634839	6634839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6634839C>G	ENST00000315579.5	+	18	3104	c.2305C>G	c.(2305-2307)Ctg>Gtg	p.L769V	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.L724V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	769					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGCTGTCCTCTGGAGCGCTG	0.557																																						uc001qoo.2		NaN																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(2305-2307)CTG>GTG		non-SMC condensin I complex, subunit D2							83.0	71.0	75.0					12																	6634839		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6634839C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2305C>G	12.37:g.6634839C>G	ENSP00000325017:p.Leu769Val					NCAPD2_uc009zen.1_Missense_Mutation_p.L641V|NCAPD2_uc010sfd.1_Missense_Mutation_p.L724V	p.L769V	NM_014865	NP_055680	Q15021	CND1_HUMAN			18	2351	+			769					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2305C>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930868	0.34096	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.12774	2.65;2.65;2.65	5.83	3.94	0.45596	Armadillo-type fold (1);	0.140872	0.48767	N	0.000174	T	0.13157	0.0319	L	0.51422	1.61	0.42141	D	0.991512	P;B;B	0.36974	0.576;0.019;0.164	B;B;B	0.36845	0.234;0.045;0.08	T	0.07177	-1.0786	10	0.30078	T	0.28	-3.3081	9.8884	0.41274	0.0:0.6653:0.2658:0.0689	.	724;730;769	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	769;641;724;641	ENSP00000325017:L769V;ENSP00000371895:L641V;ENSP00000444417:L724V	ENSP00000325017:L769V	L	+	1	2	NCAPD2	6505100	0.410000	0.25376	0.720000	0.30636	0.973000	0.67179	0.898000	0.28404	0.749000	0.32854	0.655000	0.94253	CTG		0.557	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		13	21	0	0	0	0.003163	0	13	21		
SPSB2	84727	broad.mit.edu	37	12	6981672	6981672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6981672C>A	ENST00000524270.1	-	2	580	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000523102.1_Missense_Mutation_p.G132C|SPSB2_ENST00000519357.1_Missense_Mutation_p.G132C	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGTCCCAGCCCCACGACTCG	0.701											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrl.2		NaN																	0				kidney(1)	1						c.(394-396)GGC>TGC		splA/ryanodine receptor domain and SOCS box							42.0	45.0	44.0					12																	6981672		2203	4300	6503	SO:0001583	missense	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981672C>A	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.394G>T	12.37:g.6981672C>A	ENSP00000428338:p.Gly132Cys		OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_uc001qrm.2_Missense_Mutation_p.G132C|SPSB2_uc010sfp.1_Missense_Mutation_p.G132C|LRRC23_uc001qrn.1_5'Flank	p.G132C	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN			2	550	-			132			B30.2/SPRY.		B7Z4W1|D3DUT0	Missense_Mutation	SNP	ENST00000524270.1	37	c.394G>T	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448290	0.84101	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.70986	-0.53;-0.53;-0.53	3.93	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000003	D	0.86760	0.6010	M	0.92122	3.275	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90009	0.4120	10	0.87932	D	0	.	13.8507	0.63494	0.0:1.0:0.0:0.0	.	132;132	B7Z4W1;Q99619	.;SPSB2_HUMAN	C	132	ENSP00000430872:G132C;ENSP00000428338:G132C;ENSP00000431037:G132C	ENSP00000431037:G132C	G	-	1	0	SPSB2	6851933	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.894000	0.69806	2.170000	0.68504	0.563000	0.77884	GGC		0.701	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1		NM_032641		23	114	1	0	1.39806e-14	0.008361	1.63197e-14	23	114		
BHLHE41	79365	broad.mit.edu	37	12	26275715	26275715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:26275715C>T	ENST00000242728.4	-	5	1080	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	245					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GCCTCGGCTTCGCCGCCGTAG	0.736																																						uc001rhb.2		NaN																	0					0						c.(733-735)GAA>AAA		basic helix-loop-helix domain containing, class							4.0	5.0	5.0					12																	26275715		1366	3226	4592	SO:0001583	missense	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26275715C>T	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.733G>A	12.37:g.26275715C>T	ENSP00000242728:p.Glu245Lys						p.E245K	NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN			5	1024	-			245					A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	37	c.733G>A	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591176	0.46214	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	D	0.81908	-1.55	2.29	2.29	0.28610	.	1.204460	0.06242	U	0.690618	D	0.89935	0.6859	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.84213	0.0457	10	0.87932	D	0	-1.6121	10.2716	0.43487	0.0:1.0:0.0:0.0	.	245	Q9C0J9	BHE41_HUMAN	K	245	ENSP00000242728:E245K	ENSP00000242728:E245K	E	-	1	0	BHLHE41	26166982	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	6.538000	0.73852	1.296000	0.44742	0.196000	0.17591	GAA		0.736	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1		NM_030762		7	14	0	0	0	0.004482	0	7	14		
PCED1B	91523	broad.mit.edu	37	12	47629841	47629841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:47629841G>A	ENST00000546455.1	+	4	1726	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R332Q			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	332	Pro-rich.						hydrolase activity (GO:0016787)										GGAATGCCCCGGTTCCCACAG	0.597																																						uc001rpn.2		NaN																	0		p.R332W(1)		skin(3)|ovary(2)	5						c.(994-996)CGG>CAG		hypothetical protein LOC91523							124.0	130.0	128.0					12																	47629841		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629841G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.995G>A	12.37:g.47629841G>A	ENSP00000446688:p.Arg332Gln					FAM113B_uc001rpq.2_Missense_Mutation_p.R332Q	p.R332Q	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1726	+	Renal(347;0.138)|Lung SC(27;0.192)		332			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.995G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	7.076	0.569226	0.13560	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.28454	1.61;1.61	3.95	-7.91	0.01165	.	1.882490	0.03437	N	0.208652	T	0.13543	0.0328	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21314	-1.0249	10	0.21014	T	0.42	-0.74	11.6847	0.51479	0.1367:0.5504:0.3129:0.0	.	332	Q96HM7	F113B_HUMAN	Q	332	ENSP00000446688:R332Q;ENSP00000396040:R332Q	ENSP00000396040:R332Q	R	+	2	0	FAM113B	45916108	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.930000	0.01557	-2.308000	0.00652	-1.885000	0.00541	CGG		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371		37	178	0	0	0	0.01441	0	37	178		
DDN	23109	broad.mit.edu	37	12	49391444	49391444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:49391444C>G	ENST00000421952.2	-	2	1236	c.1215G>C	c.(1213-1215)tgG>tgC	p.W405C	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	405	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTCCGGGAGCCCAGGGTCTGG	0.627																																						uc001rsv.1		NaN																	0				large_intestine(1)	1						c.(1213-1215)TGG>TGC		dendrin							31.0	35.0	34.0					12																	49391444		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391444C>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1215G>C	12.37:g.49391444C>G	ENSP00000390590:p.Trp405Cys					uc001rsw.2_5'Flank	p.W405C	NM_015086	NP_055901	O94850	DEND_HUMAN			2	1233	-			405			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1215G>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	c	10.32	1.317453	0.23908	.	.	ENSG00000181418	ENST00000421952	T	0.61859	0.07	3.84	2.94	0.34122	.	0.184573	0.27027	N	0.021289	T	0.42921	0.1224	L	0.27053	0.805	0.58432	D	0.999999	B	0.27498	0.18	B	0.26310	0.068	T	0.45920	-0.9228	10	0.72032	D	0.01	-13.1658	10.7587	0.46251	0.191:0.809:0.0:0.0	.	405	O94850	DEND_HUMAN	C	405	ENSP00000390590:W405C	ENSP00000390590:W405C	W	-	3	0	DDN	47677711	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	1.814000	0.38972	1.193000	0.43086	-0.318000	0.08688	TGG		0.627	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1				12	50	0	0	0	0.020292	0	12	50		
ITGA7	3679	broad.mit.edu	37	12	56094913	56094913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:56094913C>G	ENST00000555728.1	-	4	468	c.440G>C	c.(439-441)aGg>aCg	p.R147T	ITGA7_ENST00000347027.6_Missense_Mutation_p.R147T|ITGA7_ENST00000553804.1_Missense_Mutation_p.R147T|ITGA7_ENST00000257880.7_Missense_Mutation_p.R147T|ITGA7_ENST00000257879.6_Missense_Mutation_p.R147T|ITGA7_ENST00000452168.2_Missense_Mutation_p.R50T|ITGA7_ENST00000394229.2_Missense_Mutation_p.R147T|ITGA7_ENST00000394230.2_Missense_Mutation_p.R147T			Q13683	ITA7_HUMAN	integrin, alpha 7	147					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACTCGCTGCCTTGCCTCATA	0.592																																						uc001shh.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(439-441)AGG>ACG		integrin alpha 7 isoform 1 precursor							126.0	108.0	114.0					12																	56094913		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094913C>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.440G>C	12.37:g.56094913C>G	ENSP00000452387:p.Arg147Thr					ITGA7_uc001shg.2_Missense_Mutation_p.R147T|ITGA7_uc010sps.1_Missense_Mutation_p.R50T|ITGA7_uc009znx.2_Missense_Mutation_p.R34T	p.R147T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			4	660	-			147			FG-GAP 2.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.440G>C		.	.	.	.	.	.	.	.	.	.	C	13.39	2.224044	0.39300	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.47	2.65	0.31530	.	0.310145	0.24859	N	0.035028	T	0.61739	0.2371	M	0.83953	2.67	0.36322	D	0.858338	P;D;D;D	0.65815	0.746;0.983;0.995;0.995	P;P;D;P	0.69142	0.661;0.84;0.962;0.776	T	0.68911	-0.5284	10	0.66056	D	0.02	.	8.7474	0.34594	0.0:0.8136:0.0:0.1864	.	50;147;147;210	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	147;147;147;50;147;147;147;147;147	ENSP00000452120:R147T;ENSP00000257879:R147T;ENSP00000343009:R147T;ENSP00000393844:R50T;ENSP00000257880:R147T;ENSP00000377777:R147T;ENSP00000377776:R147T;ENSP00000452387:R147T	ENSP00000257879:R147T	R	-	2	0	ITGA7	54381180	0.999000	0.42202	0.597000	0.28824	0.166000	0.22503	5.887000	0.69751	0.648000	0.30732	-0.266000	0.10368	AGG		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1		NM_002206		11	202	0	0	0	0.020292	0	11	202		
HMGA2	8091	broad.mit.edu	37	12	66357034	66357034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:66357034G>A	ENST00000403681.2	+	5	1432	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	98					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAGGAAACTGAAGAGACATC	0.512			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																	uc001ssx.2		NaN		Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT		lipoma|leiomyoma|pleiomorphic salivary gland adenoma	HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	0				soft_tissue(159)|bone(27)|salivary_gland(22)	208						c.(292-294)GAA>AAA		high mobility group AT-hook 2 isoform a							84.0	89.0	87.0					12																	66357034		1977	4159	6136	SO:0001583	missense	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66357034G>A	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.292G>A	12.37:g.66357034G>A	ENSP00000384026:p.Glu98Lys						p.E98K	NM_003483	NP_003474	P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	5	1103	+	all_cancers(1;5.78e-46)		98					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	ENST00000403681.2	37	c.292G>A	CCDS44936.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635821	0.67130	.	.	ENSG00000149948	ENST00000403681	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.47948	0.1473	L	0.44542	1.39	0.80722	D	1	P	0.38535	0.635	B	0.27887	0.084	T	0.46978	-0.9152	7	.	.	.	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	98	P52926	HMGA2_HUMAN	K	98	.	.	E	+	1	0	HMGA2	64643301	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.223000	0.78033	2.573000	0.86826	0.555000	0.69702	GAA		0.512	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1		NM_003483		12	39	0	0	0	0.003163	0	12	39		
KRR1	11103	broad.mit.edu	37	12	75905364	75905364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:75905364G>A	ENST00000229214.4	-	1	37	c.14C>T	c.(13-15)tCg>tTg	p.S5L	KRR1_ENST00000438169.2_Missense_Mutation_p.S5L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	5					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCGCTCCAGCGAGGGAGACGC	0.532																																						uc001sxt.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(13-15)TCG>TTG		HIV-1 rev binding protein 2							80.0	77.0	78.0					12																	75905364		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75905364G>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.14C>T	12.37:g.75905364G>A	ENSP00000229214:p.Ser5Leu					KRR1_uc009zsc.2_Missense_Mutation_p.S5L|KRR1_uc010stx.1_Missense_Mutation_p.S5L	p.S5L	NM_007043	NP_008974	Q13601	KRR1_HUMAN			1	55	-			5					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.14C>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633715	0.29068	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.47869	0.85;0.83	3.62	-0.34	0.12643	.	2.469520	0.01517	N	0.018211	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.18166	0.026;0.007;0.015	B;B;B	0.14023	0.01;0.001;0.004	T	0.08785	-1.0705	10	0.25751	T	0.34	-23.284	2.9939	0.05991	0.3402:0.0:0.4488:0.2109	.	5;5;5	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	L	5	ENSP00000229214:S5L;ENSP00000411740:S5L	ENSP00000229214:S5L	S	-	2	0	KRR1	74191631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.064000	0.11636	-0.074000	0.12820	-0.133000	0.14855	TCG		0.532	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1		NM_007043		9	49	0	0	0	0.006214	0	9	49		
GNPTAB	79158	broad.mit.edu	37	12	102158444	102158444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:102158444G>A	ENST00000299314.7	-	13	2513	c.2251C>T	c.(2251-2253)Caa>Taa	p.Q751*	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	751	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATTATAGCTTGATTTTTTATT	0.383																																						uc001tit.2		NaN																	0				ovary(1)|skin(1)	2						c.(2251-2253)CAA>TAA		N-acetylglucosamine-1-phosphate transferase							66.0	62.0	63.0					12																	102158444		2203	4300	6503	SO:0001587	stop_gained	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158444G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2251C>T	12.37:g.102158444G>A	ENSP00000299314:p.Gln751*						p.Q751*	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			13	2430	-			751					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Nonsense_Mutation	SNP	ENST00000299314.7	37	c.2251C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	40	8.332889	0.98764	.	.	ENSG00000111670	ENST00000299314	.	.	.	5.7	3.81	0.43845	.	1.080580	0.06981	N	0.819918	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-1.3325	11.7886	0.52057	0.0:0.5015:0.3834:0.1151	.	.	.	.	X	751	.	ENSP00000299314:Q751X	Q	-	1	0	GNPTAB	100682575	0.001000	0.12720	0.030000	0.17652	0.569000	0.35902	0.584000	0.23864	0.698000	0.31739	0.650000	0.86243	CAA		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1				5	26	0	0	0	0.014758	0	5	26		
ALDH1L2	160428	broad.mit.edu	37	12	105440691	105440691	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:105440691C>T	ENST00000258494.9	-	14	1883	c.1743G>A	c.(1741-1743)aaG>aaA	p.K581K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	581	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GTGGCTCTTTCTTGGTGAAGG	0.393																																						uc001tlc.2		NaN																	0				skin(1)	1						c.(1741-1743)AAG>AAA		aldehyde dehydrogenase 1 family, member L2							209.0	205.0	206.0					12																	105440691		2203	4300	6503	SO:0001819	synonymous_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105440691C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1743G>A	12.37:g.105440691C>T						ALDH1L2_uc009zuo.2_Silent_p.K36K|ALDH1L2_uc009zup.2_RNA	p.K581K	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			14	1870	-			581			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	c.1743G>A	CCDS31891.1																																																																																				0.393	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1		XM_090294		35	159	0	0	0	0.007835	0	35	159		
ANAPC7	51434	broad.mit.edu	37	12	110826320	110826320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:110826320G>C	ENST00000455511.3	-	4	619	c.619C>G	c.(619-621)Cta>Gta	p.L207V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L207V|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TCTCTACCTAGAATGGCATCA	0.433																																						uc001tqo.2		NaN																	0					0						c.(619-621)CTA>GTA		anaphase-promoting complex subunit 7 isoform a							117.0	100.0	106.0					12																	110826320		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110826320G>C	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.619C>G	12.37:g.110826320G>C	ENSP00000394394:p.Leu207Val					ANAPC7_uc001tqp.3_Missense_Mutation_p.L207V	p.L207V	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			4	620	-			207					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.619C>G	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336963	0.24253	.	.	ENSG00000196510;ENSG00000196510;ENSG00000258210	ENST00000455511;ENST00000450008;ENST00000550231	T;T	0.74526	-0.03;-0.85	5.74	4.85	0.62838	Tetratricopeptide-like helical (1);	0.059587	0.64402	D	0.000002	T	0.62913	0.2467	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.20671	0.026;0.047	B;B	0.21708	0.036;0.018	T	0.56968	-0.7891	10	0.16420	T	0.52	.	14.8552	0.70332	0.0691:0.0:0.9309:0.0	.	207;207	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	V	207;207;106	ENSP00000394394:L207V;ENSP00000402314:L207V	ENSP00000402314:L207V	L	-	1	2	RP11-478C19.2;ANAPC7	109310703	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.878000	0.69682	1.429000	0.47314	0.557000	0.71058	CTA		0.433	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3		NM_016238		8	62	0	0	0	0.006214	0	8	62		
TBX5	6910	broad.mit.edu	37	12	114836395	114836395	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:114836395G>A	ENST00000310346.4	-	5	1159	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	TBX5_ENST00000349716.5_Silent_p.L115L|TBX5_ENST00000405440.2_Silent_p.L165L|TBX5_ENST00000526441.1_Silent_p.L165L|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	165					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)		AATGGGTCCAGGTGGTTGTTG	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(493-495)CTG>TTG		T-box 5 isoform 1							105.0	76.0	86.0					12																	114836395		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:114836395G>A	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.493C>T	12.37:g.114836395G>A						TBX5_uc001tvp.2_Silent_p.L165L|TBX5_uc001tvq.2_Silent_p.L115L|TBX5_uc010syv.1_Silent_p.L165L	p.L165L	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	988	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		165			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.493C>T	CCDS9173.1																																																																																				0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		5	30	0	0	0	0.014758	0	5	30		
TAOK3	51347	broad.mit.edu	37	12	118590040	118590040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118590040C>G	ENST00000392533.3	-	20	3017	c.2527G>C	c.(2527-2529)Gag>Cag	p.E843Q	TAOK3_ENST00000419821.2_Missense_Mutation_p.E843Q|TAOK3_ENST00000536979.1_Missense_Mutation_p.E38Q|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.E383Q	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	843					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTCTGCTCAAGGTGTGCT	0.542																																						uc001twx.2		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(2527-2529)GAG>CAG		TAO kinase 3							112.0	90.0	97.0					12																	118590040		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118590040C>G	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2527G>C	12.37:g.118590040C>G	ENSP00000376317:p.Glu843Gln					TAOK3_uc001twv.2_Missense_Mutation_p.E383Q|TAOK3_uc001tww.2_Missense_Mutation_p.E673Q|TAOK3_uc001twy.3_Missense_Mutation_p.E843Q	p.E843Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			20	2822	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		843			Potential.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.2527G>C	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115414	0.94339	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000536979;ENST00000537952	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	M	0.82517	2.595	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	D	0.85338	0.1094	10	0.87932	D	0	.	18.835	0.92159	0.0:1.0:0.0:0.0	.	843	Q9H2K8	TAOK3_HUMAN	Q	843;843;38;383	ENSP00000416374:E843Q;ENSP00000376317:E843Q;ENSP00000441932:E38Q;ENSP00000443834:E383Q	ENSP00000376317:E843Q	E	-	1	0	TAOK3	117074423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.674000	0.91012	0.655000	0.94253	GAG		0.542	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2		NM_016281		8	67	0	0	0	0.008291	0	8	67		
TAOK3	51347	broad.mit.edu	37	12	118599765	118599765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118599765G>T	ENST00000392533.3	-	18	2457	c.1967C>A	c.(1966-1968)aCc>aAc	p.T656N	TAOK3_ENST00000419821.2_Missense_Mutation_p.T656N|TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000537952.1_Missense_Mutation_p.T196N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	656					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCTCGGGTGGACTCGTC	0.512																																						uc001twx.2		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(1966-1968)ACC>AAC		TAO kinase 3							200.0	164.0	176.0					12																	118599765		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118599765G>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1967C>A	12.37:g.118599765G>T	ENSP00000376317:p.Thr656Asn					TAOK3_uc001twv.2_Missense_Mutation_p.T196N|TAOK3_uc001tww.2_Missense_Mutation_p.T486N|TAOK3_uc001twy.3_Missense_Mutation_p.T656N	p.T656N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			18	2262	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		656					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1967C>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294692	0.81025	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.50001	0.76;0.76;0.76	5.55	5.55	0.83447	.	0.049744	0.85682	D	0.000000	T	0.69931	0.3166	M	0.78456	2.415	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.72268	-0.4343	10	0.87932	D	0	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	656	Q9H2K8	TAOK3_HUMAN	N	656;656;196;274	ENSP00000416374:T656N;ENSP00000376317:T656N;ENSP00000443834:T196N	ENSP00000352863:T274N	T	-	2	0	TAOK3	117084148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.620000	0.61226	2.894000	0.99253	0.655000	0.94253	ACC		0.512	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2		NM_016281		16	62	1	0	2.4624e-09	0.008871	2.80882e-09	16	62		
GCN1L1	10985	broad.mit.edu	37	12	120597747	120597747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:120597747G>C	ENST00000300648.6	-	24	2643	c.2631C>G	c.(2629-2631)atC>atG	p.I877M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	877					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAAAACAGGGATGTACTGGG	0.592																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(2629-2631)ATC>ATG		GCN1 general control of amino-acid synthesis							80.0	93.0	89.0					12																	120597747		2060	4198	6258	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120597747G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2631C>G	12.37:g.120597747G>C	ENSP00000300648:p.Ile877Met						p.I877M	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			24	2644	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		877					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2631C>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501393	0.44455	.	.	ENSG00000089154	ENST00000300648	T	0.05081	3.5	6.17	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.102251	0.64402	D	0.000002	T	0.08133	0.0203	L	0.59436	1.845	0.48040	D	0.999577	P	0.47106	0.89	B	0.42522	0.39	T	0.19353	-1.0308	10	0.41790	T	0.15	.	8.9806	0.35964	0.3496:0.0:0.6504:0.0	.	877	Q92616	GCN1L_HUMAN	M	877	ENSP00000300648:I877M	ENSP00000300648:I877M	I	-	3	3	GCN1L1	119082130	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	0.514000	0.22786	0.153000	0.19213	-0.136000	0.14681	ATC		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				14	88	0	0	0	0.004007	0	14	88		
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000361654.4_Splice_Site_p.E890K|CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000537178.1_Splice_Site_p.E966K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493																																						uc001ucg.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812709C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Missense_Mutation	19	121	0	0	0	0.009535	0	19	121		
CCDC62	84660	broad.mit.edu	37	12	123297940	123297940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:123297940G>A	ENST00000253079.6	+	11	2319	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	CCDC62_ENST00000537566.1_Missense_Mutation_p.E420K|CCDC62_ENST00000392441.4_Missense_Mutation_p.E659K|CCDC62_ENST00000392440.2_Missense_Mutation_p.E420K	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	659					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CATCAGCCATGAGAATCTCAC	0.498																																						uc001udc.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(1975-1977)GAG>AAG		coiled-coil domain containing 62 isoform b							105.0	90.0	95.0					12																	123297940		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123297940G>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1975G>A	12.37:g.123297940G>A	ENSP00000253079:p.Glu659Lys					CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.E659K|CCDC62_uc001ude.2_Missense_Mutation_p.E420K	p.E659K	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	11	2120	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		659					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.1975G>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699725	0.68501	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.46819	1.47;1.46;0.86;0.86	5.14	3.26	0.37387	.	0.450454	0.20230	N	0.096488	T	0.37972	0.1023	L	0.54323	1.7	0.09310	N	1	P;B;B	0.38078	0.617;0.408;0.017	B;B;B	0.33960	0.173;0.074;0.033	T	0.31110	-0.9955	10	0.56958	D	0.05	-17.4289	7.2303	0.26038	0.0935:0.1732:0.7334:0.0	.	659;420;659	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	K	659;659;420;420	ENSP00000253079:E659K;ENSP00000376236:E659K;ENSP00000445045:E420K;ENSP00000376235:E420K	ENSP00000253079:E659K	E	+	1	0	CCDC62	121863893	0.230000	0.23740	0.031000	0.17742	0.010000	0.07245	1.212000	0.32394	0.791000	0.33826	0.650000	0.86243	GAG		0.498	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1		NM_032573		10	59	0	0	0	0.006214	0	10	59		
POLE	5426	broad.mit.edu	37	12	133218913	133218913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:133218913G>A	ENST00000320574.5	-	38	5066	c.5023C>T	c.(5023-5025)Cgc>Tgc	p.R1675C	POLE_ENST00000535270.1_Missense_Mutation_p.R1648C|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1675					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGAGGTGGCGGGCAAAGAAG	0.597								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5023-5025)CGC>TGC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							156.0	123.0	134.0					12																	133218913		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218913G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5023C>T	12.37:g.133218913G>A	ENSP00000322570:p.Arg1675Cys					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R479C|POLE_uc010tbq.1_RNA	p.R1675C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	38	5067	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1675					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5023C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260628	0.80246	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.57752	0.38;0.38;0.38	5.51	5.51	0.81932	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83445	0.0045	10	0.87932	D	0	.	14.29	0.66270	0.0:0.0:0.8514:0.1486	.	1675	Q07864	DPOE1_HUMAN	C	1675;1686;1648	ENSP00000322570:R1675C;ENSP00000406383:R1686C;ENSP00000445753:R1648C	ENSP00000322570:R1675C	R	-	1	0	POLE	131728986	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.133000	0.71682	2.599000	0.87857	0.655000	0.94253	CGC		0.597	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		26	45	0	0	0	0.004656	0	26	45		
FNDC3A	22862	broad.mit.edu	37	13	49760119	49760119	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:49760119A>C	ENST00000492622.2	+	15	1942	c.1637A>C	c.(1636-1638)gAa>gCa	p.E546A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E490A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E546A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	546	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAACTCAGAAGGTAAAAGT	0.353																																						uc001vcm.2		NaN																	0				lung(2)	2						c.(1636-1638)GAA>GCA		fibronectin type III domain containing 3A							83.0	81.0	81.0					13																	49760119		2203	4297	6500	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49760119A>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1637A>C	13.37:g.49760119A>C	ENSP00000417257:p.Glu546Ala					FNDC3A_uc001vcn.2_Missense_Mutation_p.E546A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E472A|FNDC3A_uc001vcq.2_Missense_Mutation_p.E490A	p.E546A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	15	1942	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	546			Fibronectin type-III 3.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1637A>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998394	0.54147	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56103	0.48;0.48;0.48	5.69	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.48132	0.1483	L	0.52759	1.655	0.58432	D	0.999998	B;B;B	0.27997	0.189;0.066;0.197	B;B;B	0.40165	0.321;0.12;0.24	T	0.32508	-0.9904	10	0.02654	T	1	-21.5623	10.9422	0.47281	0.9265:0.0:0.0735:0.0	.	490;546;546	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	A	546;482;546;490	ENSP00000417257:E546A;ENSP00000441831:E546A;ENSP00000381362:E490A	ENSP00000338579:E482A	E	+	2	0	FNDC3A	48658120	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.436000	0.90300	0.982000	0.38575	0.460000	0.39030	GAA		0.353	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		7	22	0	0	0	0.001984	0	7	22		
GAS6	2621	broad.mit.edu	37	13	114530137	114530137	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:114530137T>C	ENST00000327773.6	-	12	1455	c.1309A>G	c.(1309-1311)Ata>Gta	p.I437V	GAS6_ENST00000418959.3_Splice_Site_p.I138V|GAS6_ENST00000355761.4_Splice_Site_p.I383V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Splice_Site_p.I164V|GAS6_ENST00000357389.3_Splice_Site_p.I480V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	480	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGAGGGTTTATCTGGAAAGGC	0.592																																						uc001vud.2		NaN																	0				central_nervous_system(4)	4						c.(1309-1311)ATA>GTA		growth arrest-specific 6 isoform 1 precursor							100.0	92.0	94.0					13																	114530137		2203	4300	6503	SO:0001630	splice_region_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114530137T>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1309-1A>G	13.37:g.114530137T>C						GAS6_uc001vug.2_Missense_Mutation_p.I138V|GAS6_uc001vuf.2_Missense_Mutation_p.I164V	p.I437V	NM_000820	NP_000811	Q14393	GAS6_HUMAN			12	1462	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	480			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1309A>G	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	T	9.976	1.226771	0.22542	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.69287	0.3094	L	0.41710	1.295	0.48696	D	0.999698	B;B;B	0.30741	0.293;0.049;0.027	B;B;B	0.36289	0.221;0.094;0.015	T	0.69632	-0.5093	9	0.48119	T	0.1	-12.3992	13.8923	0.63747	0.0:0.0:0.0:1.0	.	480;164;437	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	480;383;164;138;437	ENSP00000349962:I480V;ENSP00000348003:I383V;ENSP00000416498:I164V;ENSP00000400117:I138V;ENSP00000331831:I437V	ENSP00000331831:I437V	I	-	1	0	GAS6	113583806	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	2.540000	0.45727	1.680000	0.50976	0.379000	0.24179	ATA		0.592	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2		NM_000820	Missense_Mutation	27	79	0	0	0	0.010818	0	27	79		
DCAF11	80344	broad.mit.edu	37	14	24584853	24584853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:24584853C>G	ENST00000446197.3	+	2	777	c.50C>G	c.(49-51)tCc>tGc	p.S17C	DCAF11_ENST00000559115.1_Missense_Mutation_p.S17C|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396936.1_5'UTR|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.S17C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	17					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGAGACCCCTCCGAGGGCTTG	0.617																																						uc001wlv.2		NaN																	0					0						c.(49-51)TCC>TGC		DDB1 and CUL4 associated factor 11 isoform 1							61.0	69.0	67.0					14																	24584853		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24584853C>G	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.50C>G	14.37:g.24584853C>G	ENSP00000415556:p.Ser17Cys					NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.S17C|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_5'UTR|DCAF11_uc001wme.2_Missense_Mutation_p.S17C|DCAF11_uc010tny.1_5'UTR|DCAF11_uc001wmd.2_Missense_Mutation_p.S17C|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Missense_Mutation_p.S17C|DCAF11_uc001wma.3_Missense_Mutation_p.S17C	p.S17C	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN			2	330	+			17					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.50C>G	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538370	0.45176	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T;T	0.67865	0.3;-0.29	5.69	5.69	0.88448	.	0.351137	0.29172	N	0.012934	T	0.67720	0.2923	L	0.29908	0.895	0.80722	D	1	D;D	0.58620	0.972;0.983	P;P	0.53450	0.726;0.536	T	0.68078	-0.5504	10	0.46703	T	0.11	-0.137	17.2979	0.87174	0.0:1.0:0.0:0.0	.	17;17	Q8TEB1-2;Q8TEB1	.;DCA11_HUMAN	C	17	ENSP00000415556:S17C;ENSP00000380146:S17C	ENSP00000323680:S17C	S	+	2	0	DCAF11	23654693	0.964000	0.33143	1.000000	0.80357	0.980000	0.70556	1.811000	0.38942	2.677000	0.91161	0.484000	0.47621	TCC		0.617	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4				34	70	0	0	0	0.01441	0	34	70		
G2E3	55632	broad.mit.edu	37	14	31085657	31085657	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:31085657G>C	ENST00000206595.6	+	15	2192	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	G2E3_ENST00000553504.1_Missense_Mutation_p.E710Q|G2E3_ENST00000438909.2_Missense_Mutation_p.E634Q	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	680	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATATAAAGAGTTTCAAGA	0.333																																						uc001wqk.2		NaN																	0				ovary(2)|skin(1)	3						c.(2038-2040)GAG>CAG		G2/M-phase specific E3 ubiquitin ligase							58.0	55.0	56.0					14																	31085657		2202	4300	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31085657G>C	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2038G>C	14.37:g.31085657G>C	ENSP00000206595:p.Glu680Gln					G2E3_uc010tpf.1_Missense_Mutation_p.E634Q|G2E3_uc001wql.1_Missense_Mutation_p.E192Q	p.E680Q	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			15	2192	+			680			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.2038G>C	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992050	0.35131	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.57595	0.39;0.39;0.39	5.8	4.91	0.64330	HECT (3);	0.332793	0.35151	N	0.003419	T	0.46347	0.1388	L	0.60455	1.87	0.09310	N	0.999999	B;B	0.22146	0.065;0.047	B;B	0.24541	0.054;0.037	T	0.43605	-0.9381	10	0.45353	T	0.12	-13.3103	6.9756	0.24672	0.1882:0.1376:0.6742:0.0	.	192;680	Q49AD9;Q7L622	.;G2E3_HUMAN	Q	680;634;710	ENSP00000206595:E680Q;ENSP00000391068:E634Q;ENSP00000451653:E710Q	ENSP00000206595:E680Q	E	+	1	0	G2E3	30155408	0.948000	0.32251	1.000000	0.80357	0.963000	0.63663	0.826000	0.27407	1.455000	0.47813	0.591000	0.81541	GAG		0.333	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2		NM_017769		8	19	0	0	0	0.006214	0	8	19		
LRFN5	145581	broad.mit.edu	37	14	42361055	42361055	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:42361055T>C	ENST00000298119.4	+	4	3177	c.1988T>C	c.(1987-1989)gTt>gCt	p.V663A	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	663						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCACAAATGTTGAATCCCAA	0.483										HNSCC(30;0.082)																												uc001wvm.2		NaN																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1987-1989)GTT>GCT		leucine rich repeat and fibronectin type III							104.0	85.0	92.0					14																	42361055		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361055T>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1988T>C	14.37:g.42361055T>C	ENSP00000298119:p.Val663Ala	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.V663A	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3186	+			663			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1988T>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	7.438	0.640042	0.14386	.	.	ENSG00000165379	ENST00000298119	T	0.51817	0.69	5.9	3.58	0.41010	.	0.389273	0.21692	N	0.070545	T	0.24736	0.0600	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04495	-1.0947	10	0.28530	T	0.3	.	8.2184	0.31526	0.0:0.1614:0.0:0.8386	.	663	Q96NI6	LRFN5_HUMAN	A	663	ENSP00000298119:V663A	ENSP00000298119:V663A	V	+	2	0	LRFN5	41430805	0.045000	0.20229	0.992000	0.48379	0.398000	0.30690	1.829000	0.39121	1.070000	0.40811	0.528000	0.53228	GTT		0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		11	28	0	0	0	0.013537	0	11	28		
SPATA7	55812	broad.mit.edu	37	14	88892876	88892876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:88892876C>G	ENST00000393545.4	+	6	962	c.673C>G	c.(673-675)Ctt>Gtt	p.L225V	SPATA7_ENST00000556553.1_Missense_Mutation_p.L193V|SPATA7_ENST00000356583.5_Missense_Mutation_p.L193V|SPATA7_ENST00000045347.7_Missense_Mutation_p.L225V	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	225					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAGTGGGGATCTTTTGGATAA	0.438																																						uc001xwq.2		NaN																	0				ovary(1)	1						c.(673-675)CTT>GTT		spermatogenesis-associated protein 7 isoform a							64.0	65.0	65.0					14																	88892876		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892876C>G	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.673C>G	14.37:g.88892876C>G	ENSP00000377176:p.Leu225Val					SPATA7_uc001xwr.2_Missense_Mutation_p.L193V|SPATA7_uc001xws.2_Missense_Mutation_p.L161V|SPATA7_uc001xwt.2_Missense_Mutation_p.L119V|SPATA7_uc001xwu.2_5'Flank	p.L225V	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			6	824	+			225					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.673C>G	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715746	0.68844	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.34	4.45	0.53987	.	0.172862	0.39341	N	0.001393	T	0.57562	0.2062	M	0.64404	1.975	0.34922	D	0.748527	D;D;D	0.89917	0.986;0.964;1.0	P;P;D	0.83275	0.799;0.593;0.996	T	0.71494	-0.4576	10	0.72032	D	0.01	-13.9333	15.3319	0.74219	0.0:0.8593:0.1407:0.0	.	193;193;225	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	V	193;225;193;211;225	ENSP00000451128:L193V;ENSP00000377176:L225V;ENSP00000348991:L193V;ENSP00000450606:L211V;ENSP00000045347:L225V	ENSP00000045347:L225V	L	+	1	0	SPATA7	87962629	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.103000	0.57783	1.356000	0.45884	0.650000	0.86243	CTT		0.438	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1				16	75	0	0	0	0.010504	0	16	75		
BTBD7	55727	broad.mit.edu	37	14	93712182	93712182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:93712182C>T	ENST00000334746.5	-	10	2879	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	BTBD7_ENST00000393170.2_Missense_Mutation_p.E432K|BTBD7_ENST00000554565.1_Missense_Mutation_p.E507K	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	858					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.532																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(2572-2574)GAG>AAG		BTB (POZ) domain containing 7 isoform 1							26.0	29.0	28.0					14																	93712182		2198	4296	6494	SO:0001583	missense	55727							g.chr14:93712182C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2572G>A	14.37:g.93712182C>T	ENSP00000335615:p.Glu858Lys					BTBD7_uc010aur.2_Missense_Mutation_p.E383K|BTBD7_uc010two.1_Missense_Mutation_p.E678K|BTBD7_uc001ybp.2_Missense_Mutation_p.E507K	p.E858K	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2898	-		all_cancers(154;0.08)	858					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.2572G>A	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002544	0.54254	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.44482	1.25;0.92	5.73	5.73	0.89815	.	0.403672	0.29444	N	0.012133	T	0.50905	0.1643	N	0.14661	0.345	0.45025	D	0.998048	B;D;D	0.71674	0.002;0.998;0.993	B;D;D	0.78314	0.004;0.991;0.971	T	0.56780	-0.7922	10	0.59425	D	0.04	.	19.8942	0.96945	0.0:1.0:0.0:0.0	.	432;507;858	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	K	858;507;473;432	ENSP00000335615:E858K;ENSP00000451010:E507K	ENSP00000335615:E858K	E	-	1	0	BTBD7	92781935	1.000000	0.71417	0.959000	0.39883	0.500000	0.33767	5.006000	0.63978	2.708000	0.92522	0.650000	0.86243	GAG		0.532	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		14	43	0	0	0	0.016723	0	14	43		
ATG2B	55102	broad.mit.edu	37	14	96784135	96784135	+	Missense_Mutation	SNP	G	G	C	rs113424169		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:96784135G>C	ENST00000359933.4	-	19	3830	c.2937C>G	c.(2935-2937)ttC>ttG	p.F979L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	979					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAATATTCTCGAATGTCTCCA	0.368																																						uc001yfi.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2935-2937)TTC>TTG		ATG2 autophagy related 2 homolog B							100.0	96.0	97.0					14																	96784135		1836	4104	5940	SO:0001583	missense	55102							g.chr14:96784135G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2937C>G	14.37:g.96784135G>C	ENSP00000353010:p.Phe979Leu						p.F979L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	19	3302	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	979					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2937C>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	8.812	0.935380	0.18206	.	.	ENSG00000066739	ENST00000359933	T	0.37752	1.18	5.54	-2.86	0.05717	.	0.532223	0.16212	N	0.224407	T	0.11452	0.0279	N	0.11560	0.145	0.39567	D	0.969211	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.09590	T	0.72	.	0.9674	0.01408	0.4379:0.2099:0.1315:0.2207	.	979	Q96BY7	ATG2B_HUMAN	L	979	ENSP00000353010:F979L	ENSP00000353010:F979L	F	-	3	2	ATG2B	95853888	0.987000	0.35691	0.878000	0.34440	0.753000	0.42808	0.333000	0.19768	-0.094000	0.12374	-0.976000	0.02587	TTC		0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		32	83	0	0	0	0.00623	0	32	83		
AHNAK2	113146	broad.mit.edu	37	14	105413989	105413989	+	Missense_Mutation	SNP	G	G	A	rs376661887		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:105413989G>A	ENST00000333244.5	-	7	7918	c.7799C>T	c.(7798-7800)gCg>gTg	p.A2600V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2600						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCGCCTTGGGGCC	0.622																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(7798-7800)GCG>GTG		AHNAK nucleoprotein 2		G	VAL/ALA	0,3734		0,0,1867	124.0	136.0	132.0		7799	-6.8	0.0	14		132	1,8181		0,1,4090	no	missense	AHNAK2	NM_138420.2	64	0,1,5957	AA,AG,GG		0.0122,0.0,0.0084	benign	2600/5796	105413989	1,11915	1867	4091	5958	SO:0001583	missense	113146					nucleus		g.chr14:105413989G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7799C>T	14.37:g.105413989G>A	ENSP00000353114:p.Ala2600Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.A2500V	p.A2600V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7919	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2600					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7799C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.337175	0.01287	0.0	1.22E-4	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.41	-6.82	0.01698	.	.	.	.	.	T	0.00875	0.0029	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40327	-0.9569	9	0.28530	T	0.3	.	7.733	0.28797	0.413:0.2493:0.3378:0.0	.	2600	Q8IVF2	AHNK2_HUMAN	V	2600	ENSP00000353114:A2600V	ENSP00000353114:A2600V	A	-	2	0	AHNAK2	104485034	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.805000	0.04530	-1.779000	0.01280	-1.472000	0.01007	GCG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		41	217	0	0	0	0.01441	0	41	217		
NUTM1	256646	broad.mit.edu	37	15	34646669	34646669	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:34646669C>G	ENST00000333756.4	+	5	1169	c.1014C>G	c.(1012-1014)gcC>gcG	p.A338A	NUTM1_ENST00000438749.3_Silent_p.A356A|NUTM1_ENST00000537011.1_Silent_p.A366A	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	338						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAAGGCAGCCTCCAAGACAC	0.557																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1012-1014)GCC>GCG		nuclear protein in testis							75.0	81.0	79.0					15																	34646669		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34646669C>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1014C>G	15.37:g.34646669C>G						C15orf55_uc010ucc.1_Silent_p.A366A|C15orf55_uc010ucd.1_Silent_p.A356A	p.A338A	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	5	1169	+		all_lung(180;2.78e-08)	338					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1014C>G	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		19	92	0	0	0	0.012319	0	19	92		
PPIB	5479	broad.mit.edu	37	15	64454323	64454323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:64454323C>A	ENST00000300026.3	-	2	384	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	56	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGGCCTACATCTTCATCTCCA	0.463																																					GBM(105;399 1481 32889 33051 36637)	uc002and.2		NaN																	0					0						c.(166-168)GAT>TAT		peptidylprolyl isomerase B precursor	L-Proline(DB00172)						206.0	216.0	212.0					15																	64454323		2203	4300	6503	SO:0001583	missense	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64454323C>A		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.166G>T	15.37:g.64454323C>A	ENSP00000300026:p.Asp56Tyr					PPIB_uc010bgx.1_Missense_Mutation_p.D48Y	p.D56Y	NM_000942	NP_000933	P23284	PPIB_HUMAN			2	335	-			56			PPIase cyclophilin-type.		A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	c.166G>T	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326057	0.41197	.	.	ENSG00000166794	ENST00000300026	T	0.36878	1.23	5.57	2.6	0.31112	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.300125	0.39909	N	0.001222	T	0.22551	0.0544	N	0.20881	0.62	0.53005	D	0.999969	B	0.29270	0.24	B	0.32805	0.153	T	0.07158	-1.0787	10	0.72032	D	0.01	.	4.7558	0.13082	0.1244:0.6227:0.1207:0.1322	.	56	P23284	PPIB_HUMAN	Y	56	ENSP00000300026:D56Y	ENSP00000300026:D56Y	D	-	1	0	PPIB	62241376	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.000000	0.49481	0.694000	0.31654	0.455000	0.32223	GAT		0.463	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1				44	157	1	0	1.67211e-32	0.01441	1.99061e-32	44	157		
ISG20	3669	broad.mit.edu	37	15	89182733	89182733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:89182733G>C	ENST00000306072.5	+	2	494	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	ISG20_ENST00000379224.5_Missense_Mutation_p.E46Q|ISG20_ENST00000560741.1_Missense_Mutation_p.E46Q	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	46					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CATCCGGCCTGAGGGAGAGAT	0.642																																						uc002bmv.1		NaN																	0					0						c.(136-138)GAG>CAG		interferon stimulated exonuclease							68.0	68.0	68.0					15																	89182733		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89182733G>C	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.136G>C	15.37:g.89182733G>C	ENSP00000306565:p.Glu46Gln					ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.E46Q	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		2	429	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		46					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.136G>C	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128252	0.56721	.	.	ENSG00000172183	ENST00000306072;ENST00000379224	T;T	0.31769	1.48;1.48	4.81	4.81	0.61882	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	4.762410	0.00810	N	0.001481	T	0.28234	0.0697	L	0.31926	0.97	0.09310	N	1	B	0.19445	0.036	B	0.19946	0.027	T	0.19582	-1.0301	10	0.21540	T	0.41	-16.7443	9.0966	0.36642	0.1013:0.0:0.8986:0.0	.	46	Q96AZ6	ISG20_HUMAN	Q	46	ENSP00000306565:E46Q;ENSP00000368526:E46Q	ENSP00000306565:E46Q	E	+	1	0	ISG20	86983737	0.001000	0.12720	0.147000	0.22382	0.976000	0.68499	0.975000	0.29449	2.201000	0.70794	0.561000	0.74099	GAG		0.642	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2		NM_002201		15	117	0	0	0	0.007413	0	15	117		
HDDC3	374659	broad.mit.edu	37	15	91475081	91475081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:91475081C>A	ENST00000394272.3	-	3	290	c.262G>T	c.(262-264)Gag>Tag	p.E88*	HDDC3_ENST00000330334.3_Nonsense_Mutation_p.E88*|UNC45A_ENST00000394275.2_Intron|AC068831.3_ENST00000448987.1_RNA|HDDC3_ENST00000559898.1_Nonsense_Mutation_p.E88*|AC068831.3_ENST00000438890.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3	88	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCTGTTACCTCCTCCACCAGG	0.627											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bqf.3		NaN																	0				ovary(1)	1						c.(262-264)GAG>TAG		HD domain containing 3							84.0	83.0	83.0					15																	91475081		2198	4298	6496	SO:0001587	stop_gained	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475081C>A	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.262G>T	15.37:g.91475081C>A	ENSP00000377814:p.Glu88*		OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	UNC45A_uc002bqd.2_Intron|HDDC3_uc002bqe.3_Nonsense_Mutation_p.E88*	p.E88*	NM_198527	NP_940929	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		3	266	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		88			HD.			Nonsense_Mutation	SNP	ENST00000394272.3	37	c.262G>T		.	.	.	.	.	.	.	.	.	.	C	28.3	4.906542	0.92107	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9189	16.1919	0.81996	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000330721:E88X	E	-	1	0	HDDC3	89276085	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.963000	0.76055	2.388000	0.81334	0.555000	0.69702	GAG		0.627	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2		NM_198527		13	75	1	0	1.05317e-09	0.020292	1.21054e-09	13	75		
WDR90	197335	broad.mit.edu	37	16	716521	716521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:716521G>T	ENST00000293879.4	+	38	4807	c.4807G>T	c.(4807-4809)Gtc>Ttc	p.V1603F	WDR90_ENST00000547543.1_3'UTR|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.V202F|WDR90_ENST00000549091.1_Missense_Mutation_p.V1605F			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1603										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGGTCAGCGTCTGGGCCTC	0.622																																						uc002cii.1		NaN																	0				ovary(1)	1						c.(4807-4809)GTC>TTC		WD repeat domain 90							32.0	44.0	40.0					16																	716521		2123	4231	6354	SO:0001583	missense	197335							g.chr16:716521G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4807G>T	16.37:g.716521G>T	ENSP00000293879:p.Val1603Phe					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.V218F|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.V202F|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.V1603F	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			38	4861	+		Hepatocellular(780;0.0218)	1603			WD 20.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4807G>T	CCDS42092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.07|14.07	2.426739|2.426739	0.43020|0.43020	.|.	.|.	ENSG00000161996|ENSG00000161996	ENST00000551100|ENST00000549091;ENST00000293879;ENST00000547944	.|T;T;T	.|0.69561	.|1.12;1.03;-0.41	4.49|4.49	-1.57|-1.57	0.08506|0.08506	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|1.199780	.|0.05892	.|N	.|0.628375	T|T	0.77818|0.77818	0.4187|0.4187	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.996	.|D;P	.|0.64321	.|0.924;0.89	T|T	0.71856|0.71856	-0.4466|-0.4466	5|10	.|0.45353	.|T	.|0.12	.|.	9.1633|9.1633	0.37037|0.37037	0.543:0.0:0.457:0.0|0.543:0.0:0.457:0.0	.|.	.|202;1603	.|G3V201;Q96KV7	.|.;WDR90_HUMAN	L|F	9|1605;1603;202	.|ENSP00000448122:V1605F;ENSP00000293879:V1603F;ENSP00000449576:V202F	.|ENSP00000293879:V1603F	R|V	+|+	2|1	0|0	WDR90|WDR90	656522|656522	0.001000|0.001000	0.12720|0.12720	0.878000|0.878000	0.34440|0.34440	0.947000|0.947000	0.59692|0.59692	-0.026000|-0.026000	0.12392|0.12392	-0.299000|-0.299000	0.08909|0.08909	-0.258000|-0.258000	0.10820|0.10820	CGT|GTC		0.622	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294		18	51	1	0	7.45023e-12	0.010504	8.66305e-12	18	51		
MKL2	57496	broad.mit.edu	37	16	14345773	14345773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:14345773G>A	ENST00000341243.5	+	12	2425	c.2425G>A	c.(2425-2427)Gcc>Acc	p.A809T	MKL2_ENST00000318282.5_Missense_Mutation_p.A770T|MKL2_ENST00000571589.1_Missense_Mutation_p.A820T|MKL2_ENST00000574045.1_Missense_Mutation_p.A770T			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	809					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGACATCCTGCCCCAGCTGT	0.423																																						uc010uza.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2458-2460)GCC>ACC		megakaryoblastic leukemia 2 protein							124.0	119.0	121.0					16																	14345773		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14345773G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2425G>A	16.37:g.14345773G>A	ENSP00000345841:p.Ala809Thr					MKL2_uc002dcg.2_Missense_Mutation_p.A770T|MKL2_uc002dcj.2_Missense_Mutation_p.A65T	p.A820T	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			14	2613	+			809					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2458G>A		.	.	.	.	.	.	.	.	.	.	G	12.74	2.029107	0.35797	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.45	4.49	0.54785	.	0.565358	0.19818	N	0.105383	T	0.37210	0.0995	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.18429	-1.0337	9	0.29301	T	0.29	-8.1781	12.0679	0.53598	0.0802:0.0:0.9198:0.0	.	820;770	B4DGT8;Q9ULH7-4	.;.	T	770;809	.	ENSP00000339086:A770T	A	+	1	0	MKL2	14253274	0.997000	0.39634	0.113000	0.21522	0.058000	0.15608	2.746000	0.47467	1.430000	0.47334	0.655000	0.94253	GCC		0.423	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048		26	115	0	0	0	0.009535	0	26	115		
ATP2A1	487	broad.mit.edu	37	16	28914646	28914646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:28914646G>A	ENST00000357084.3	+	21	3132	c.2865G>A	c.(2863-2865)atG>atA	p.M955I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.M830I|ATP2A1_ENST00000395503.4_Missense_Mutation_p.M955I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	955					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCCCCAGATGATCTTCAAGC	0.637																																						uc002dro.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2863-2865)ATG>ATA		ATPase, Ca++ transporting, fast twitch 1 isoform							92.0	83.0	86.0					16																	28914646		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914646G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2865G>A	16.37:g.28914646G>A	ENSP00000349595:p.Met955Ile					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.M955I|ATP2A1_uc002drp.1_Missense_Mutation_p.M830I	p.M955I	NM_173201	NP_775293	O14983	AT2A1_HUMAN			21	3049	+			955			Lumenal (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2865G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842351	0.51057	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95690	-3.78;-3.78;-2.3	5.52	5.52	0.82312	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	L	0.39245	1.2	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	D	0.88787	0.3275	10	0.35671	T	0.21	.	18.1983	0.89830	0.0:0.0:1.0:0.0	.	830;955;955	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	955;955;830	ENSP00000349595:M955I;ENSP00000378879:M955I;ENSP00000443101:M830I	ENSP00000349595:M955I	M	+	3	0	ATP2A1	28822147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.195000	0.51013	2.600000	0.87896	0.561000	0.74099	ATG		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		17	259	0	0	0	0.008871	0	17	259		
QPRT	23475	broad.mit.edu	37	16	29708422	29708422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29708422G>A	ENST00000395384.4	+	3	816	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.V71I	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	219					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGCCGACCTTGTCCTGCTGGA	0.642																																						uc002dto.2		NaN																	0					0						c.(655-657)GTC>ATC		quinolinate phosphoribosyltransferase	Niacin(DB00627)						33.0	29.0	30.0					16																	29708422		2195	4300	6495	SO:0001583	missense	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29708422G>A	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.655G>A	16.37:g.29708422G>A	ENSP00000378782:p.Val219Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_RNA	p.V219I	NM_014298	NP_055113	Q15274	NADC_HUMAN			3	733	+			219					Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	c.655G>A	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.533826	0.00951	.	.	ENSG00000103485	ENST00000219771;ENST00000395384	T	0.25912	1.77	5.15	1.94	0.25998	Aldolase-type TIM barrel (1);Quinolinate phosphoribosyl transferase, C-terminal (2);	0.075117	0.51477	D	0.000083	T	0.08403	0.0209	N	0.03294	-0.36	0.26196	N	0.979512	B	0.12013	0.005	B	0.11329	0.006	T	0.39860	-0.9593	10	0.02654	T	1	-38.2265	8.594	0.33703	0.0823:0.2902:0.6275:0.0	.	219	Q15274	NADC_HUMAN	I	74;219	ENSP00000378782:V219I	ENSP00000219771:V74I	V	+	1	0	QPRT	29615923	0.847000	0.29606	0.038000	0.18304	0.163000	0.22366	1.116000	0.31221	0.235000	0.21160	-0.339000	0.08088	GTC		0.642	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2		NM_014298		6	47	0	0	0	0.00308	0	6	47		
MVP	9961	broad.mit.edu	37	16	29855914	29855914	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29855914G>T	ENST00000357402.5	+	11	1873	c.1735G>T	c.(1735-1737)Gtg>Ttg	p.V579L	MVP_ENST00000395353.1_Missense_Mutation_p.V579L	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	579					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCCCGGGTGCGGGGGGC	0.562																																						uc002dui.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1735-1737)GTG>TTG		major vault protein							84.0	79.0	81.0					16																	29855914		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855914G>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1735G>T	16.37:g.29855914G>T	ENSP00000349977:p.Val579Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.V579L|MVP_uc010vea.1_Missense_Mutation_p.V173L	p.V579L	NM_005115	NP_005106	Q14764	MVP_HUMAN			11	1819	+			579					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1735G>T	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103020	0.76983	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.51574	0.7;0.7	5.91	4.95	0.65309	Shoulder domain (1);	0.122423	0.64402	D	0.000015	T	0.54854	0.1884	M	0.74467	2.265	0.80722	D	1	D	0.53619	0.961	P	0.51079	0.658	T	0.58346	-0.7652	10	0.51188	T	0.08	-23.1183	7.8134	0.29245	0.0802:0.0:0.7569:0.1628	.	579	Q14764	MVP_HUMAN	L	579	ENSP00000349977:V579L;ENSP00000378760:V579L	ENSP00000349977:V579L	V	+	1	0	MVP	29763415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.867000	0.56047	1.495000	0.48549	0.655000	0.94253	GTG		0.562	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3		NM_005115		157	101	1	0	3.65916e-55	0.01441	4.40863e-55	157	101		
SETD1A	9739	broad.mit.edu	37	16	30992428	30992428	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:30992428G>T	ENST00000262519.8	+	17	5425	c.4739G>T	c.(4738-4740)tGg>tTg	p.W1580L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1580	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATCCACGAGTGGGGTCTGTTT	0.612																																						uc002ead.1		NaN																	0				ovary(2)|skin(1)	3						c.(4738-4740)TGG>TTG		SET domain containing 1A							126.0	112.0	117.0					16																	30992428		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30992428G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4739G>T	16.37:g.30992428G>T	ENSP00000262519:p.Trp1580Leu						p.W1580L	NM_014712	NP_055527	O15047	SET1A_HUMAN			17	5425	+			1580			SET.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4739G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182880	0.57800	.	.	ENSG00000099381	ENST00000262519	D	0.82984	-1.67	4.68	4.68	0.58851	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90938	0.4795	10	0.48119	T	0.1	.	16.5101	0.84282	0.0:0.0:1.0:0.0	.	1580	O15047	SET1A_HUMAN	L	1580	ENSP00000262519:W1580L	ENSP00000262519:W1580L	W	+	2	0	SETD1A	30899929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.550000	0.98110	2.417000	0.82017	0.544000	0.68410	TGG		0.612	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712		35	227	1	0	5.04308e-16	0.00623	5.93303e-16	35	227		
CDH15	1013	broad.mit.edu	37	16	89260217	89260217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:89260217G>C	ENST00000289746.2	+	13	2112	c.2047G>C	c.(2047-2049)Gga>Cga	p.G683R		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	683					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGCCTCTGGGACCGCCGCC	0.697																																						uc002fmt.2		NaN																	0				skin(1)	1						c.(2047-2049)GGA>CGA		cadherin 15 preproprotein							13.0	15.0	14.0					16																	89260217		2114	4238	6352	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89260217G>C	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2047G>C	16.37:g.89260217G>C	ENSP00000289746:p.Gly683Arg						p.G683R	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2124	+			683			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.2047G>C	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	4.082	0.013241	0.07912	.	.	ENSG00000129910	ENST00000289746	T	0.57273	0.41	4.41	4.41	0.53225	Cadherin, cytoplasmic domain (1);	0.612217	0.14234	N	0.332508	T	0.48241	0.1489	L	0.59436	1.845	0.20307	N	0.999914	B	0.32365	0.367	B	0.36766	0.232	T	0.39035	-0.9633	10	0.08837	T	0.75	.	11.7997	0.52120	0.0:0.1783:0.8217:0.0	.	683	P55291	CAD15_HUMAN	R	683	ENSP00000289746:G683R	ENSP00000289746:G683R	G	+	1	0	CDH15	87787718	0.703000	0.27826	0.016000	0.15963	0.017000	0.09413	2.149000	0.42244	1.988000	0.58038	0.557000	0.71058	GGA		0.697	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1		NM_004933		5	40	0	0	0	0.001168	0	5	40		
TUBB3	10381	broad.mit.edu	37	16	90001364	90001364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:90001364G>A	ENST00000315491.7	+	4	628	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	TUBB3_ENST00000556922.1_Missense_Mutation_p.V516I|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.V97I|TUBB3_ENST00000304984.5_Missense_Mutation_p.V97I	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	169					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CACCTTCAGCGTCGTGCCCTC	0.627																																						uc002fph.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(505-507)GTC>ATC		tubulin, beta, 4							199.0	153.0	169.0					16																	90001364		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001364G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.505G>A	16.37:g.90001364G>A	ENSP00000320295:p.Val169Ile					TUBB3_uc002fpf.2_Missense_Mutation_p.V516I|TUBB3_uc010ciz.1_Missense_Mutation_p.V97I|TUBB3_uc002fpg.1_Missense_Mutation_p.V23I|TUBB3_uc002fpi.1_Missense_Mutation_p.V97I|TUBB3_uc002fpj.1_Missense_Mutation_p.V97I|TUBB3_uc010cjb.1_Missense_Mutation_p.V23I|TUBB3_uc002fpk.1_Missense_Mutation_p.V23I	p.V169I	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	570	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	169					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.505G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523532	0.44866	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.65	4.65	0.58169	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.48767	D	0.000177	T	0.64294	0.2585	L	0.39147	1.195	0.50632	D	0.99988	B;B	0.32862	0.095;0.387	B;B	0.35813	0.211;0.137	T	0.62081	-0.6929	9	.	.	.	.	16.6661	0.85253	0.0:0.0:1.0:0.0	.	169;169	Q13509;B2RBD5	TBB3_HUMAN;.	I	516;169;97;97;97;169	ENSP00000451560:V516I;ENSP00000302777:V97I;ENSP00000450538:V97I;ENSP00000451617:V97I;ENSP00000320295:V169I	.	V	+	1	0	RP11-566K11.2;TUBB3	88528865	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	9.561000	0.98142	2.297000	0.77311	0.511000	0.50034	GTC		0.627	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1		NM_006086		53	187	0	0	0	0.01441	0	53	187		
PELP1	27043	broad.mit.edu	37	17	4578480	4578480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4578480G>A	ENST00000574876.1	-	11	1185	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.R388W|PELP1_ENST00000301396.4_Missense_Mutation_p.R534W|PELP1_ENST00000572293.1_Missense_Mutation_p.R440W|PELP1_ENST00000436683.2_Missense_Mutation_p.R243W			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	390					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGCAAGAGCCGGCTTCCACAC	0.612																																						uc002fyi.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1168-1170)CGG>TGG		proline, glutamic acid and leucine rich protein							31.0	34.0	33.0					17																	4578480		1994	4168	6162	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4578480G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1168C>T	17.37:g.4578480G>A	ENSP00000461625:p.Arg390Trp					PELP1_uc010vsf.1_Missense_Mutation_p.R243W	p.R390W	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			11	1394	-			390					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.1168C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865559	0.17250	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.69175	-0.38;-0.22;-0.23	5.59	4.61	0.57282	.	0.067035	0.64402	D	0.000016	T	0.72661	0.3488	L	0.54323	1.7	0.27714	N	0.94538	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.65162	-0.6235	10	0.48119	T	0.1	-19.3316	7.2561	0.26177	0.0849:0.0:0.7446:0.1705	.	243;390	E7EV54;Q8IZL8	.;PELP1_HUMAN	W	534;388;243	ENSP00000301396:R534W;ENSP00000269230:R388W;ENSP00000416231:R243W	ENSP00000269230:R388W	R	-	1	2	AC091153.1	4525229	0.639000	0.27234	0.989000	0.46669	0.527000	0.34593	1.903000	0.39858	1.344000	0.45657	-0.314000	0.08810	CGG		0.612	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2		NM_014389		3	20	0	0	0	0.004672	0	3	20		
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						uc002fyj.2		NaN																	0					0						c.(280-282)CCA>CCC		arrestin, beta 2 isoform 1							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_uc002fyk.2_Silent_p.P79P|ARRB2_uc002fyl.2_Silent_p.P94P|ARRB2_uc010vsg.1_Silent_p.P94P|ARRB2_uc002fym.2_Silent_p.P79P|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'Flank	p.P94P	NM_004313	NP_004304	P32121	ARRB2_HUMAN			5	510	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1		NM_004313		13	60	0	0	0	0.013726	0	13	60		
ZMYND15	84225	broad.mit.edu	37	17	4642109	4642109	+	5'Flank	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4642109C>G	ENST00000433935.1	+	0	0				CXCL16_ENST00000293778.6_Silent_p.L81L|CXCL16_ENST00000576153.1_5'Flank|ZMYND15_ENST00000269289.6_5'Flank|ZMYND15_ENST00000573751.2_5'Flank|CXCL16_ENST00000574412.1_Silent_p.L81L|ZMYND15_ENST00000592813.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGTAAGCTCTCAGGTGTTTCC	0.552																																						uc002fyr.3		NaN																	0					0						c.(241-243)CTG>CTC		chemokine (C-X-C motif) ligand 16							66.0	61.0	63.0					17																	4642109		2203	4300	6503	SO:0001631	upstream_gene_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4642109C>G	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760		17.37:g.4642109C>G	Exception_encountered					CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Silent_p.L81L|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	p.L81L	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN			2	775	-			62			Extracellular (Potential).|Chemokine.		B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	c.243G>C	CCDS45584.1																																																																																				0.552	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1		NM_032265		12	43	0	0	0	0.00499	0	12	43		
ASGR1	432	broad.mit.edu	37	17	7077715	7077715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7077715C>G	ENST00000269299.3	-	6	819	c.420G>C	c.(418-420)caG>caC	p.Q140H	ASGR1_ENST00000380920.4_Missense_Mutation_p.Q39H|ASGR1_ENST00000574388.1_Missense_Mutation_p.Q101H|ASGR1_ENST00000572879.1_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	140					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GCGCCGCCATCTGACAGCTCA	0.682																																						uc002ges.3		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(418-420)CAG>CAC		asialoglycoprotein receptor 1							30.0	29.0	30.0					17																	7077715		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7077715C>G		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.420G>C	17.37:g.7077715C>G	ENSP00000269299:p.Gln140His					ASGR1_uc010clx.1_Missense_Mutation_p.Q39H	p.Q140H	NM_001671	NP_001662	P07306	ASGR1_HUMAN			6	830	-			140			Extracellular (Probable).		I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.420G>C	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	c	16.99	3.272999	0.59649	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.29142	1.58;2.1	4.47	3.46	0.39613	Hepatic lectin, N-terminal (1);C-type lectin-like (1);	0.133960	0.34603	N	0.003832	T	0.53706	0.1813	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.56878	-0.7906	10	0.56958	D	0.05	.	10.3646	0.44015	0.0:0.8006:0.1994:0.0	.	140	P07306	ASGR1_HUMAN	H	140;101	ENSP00000269299:Q140H;ENSP00000370307:Q101H	ENSP00000269299:Q140H	Q	-	3	2	ASGR1	7018439	0.998000	0.40836	0.997000	0.53966	0.757000	0.42996	1.760000	0.38430	1.183000	0.42943	0.187000	0.17357	CAG		0.682	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3		NM_001671		16	20	0	0	0	0.004007	0	16	20		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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>T	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>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	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>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	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		52	40	0	0	0	0.01441	0	52	40		
DNAH2	146754	broad.mit.edu	37	17	7702490	7702490	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7702490T>C	ENST00000572933.1	+	56	10089	c.8629T>C	c.(8629-8631)Tac>Cac	p.Y2877H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2877H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2877	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCGCCTACCTCATTGA	0.592																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8629-8631)TAC>CAC		dynein heavy chain domain 3							118.0	92.0	100.0					17																	7702490		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702490T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8629T>C	17.37:g.7702490T>C	ENSP00000458355:p.Tyr2877His						p.Y2877H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			55	8643	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2877			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8629T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803455	0.70682	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.48	5.48	0.80851	Dynein heavy chain, P-loop containing D4 domain (1);	0.305886	0.31859	N	0.006946	T	0.61375	0.2342	M	0.71871	2.18	0.80722	D	1	P	0.51240	0.943	P	0.61275	0.886	T	0.65207	-0.6224	10	0.72032	D	0.01	.	14.5522	0.68075	0.0:0.0:0.0:1.0	.	2877	Q9P225	DYH2_HUMAN	H	2877	ENSP00000373825:Y2877H	ENSP00000353818:Y2877H	Y	+	1	0	DNAH2	7643215	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.263000	0.78421	2.082000	0.62665	0.459000	0.35465	TAC		0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		3	68	0	0	0	0.004672	0	3	68		
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(4057-4059)GAG>CAG		myosin, heavy polypeptide 10, non-muscle							85.0	77.0	80.0					17																	8397110		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	17.37:g.8397110C>G	ENSP00000269243:p.Glu1353Gln					MYH10_uc002glm.2_Missense_Mutation_p.E1384Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1362Q	p.E1353Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			30	4153	-			1353			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4057G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				3	49	0	0	0	0.009096	0	3	49		
MYH3	4621	broad.mit.edu	37	17	10538231	10538231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:10538231C>T	ENST00000583535.1	-	31	4369	c.4282G>A	c.(4282-4284)Gat>Aat	p.D1428N	MYH3_ENST00000226209.7_Missense_Mutation_p.D1428N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1428					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCATCAGATCCTCCACCTCT	0.537																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4282-4284)GAT>AAT		myosin, heavy chain 3, skeletal muscle,							132.0	117.0	122.0					17																	10538231		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10538231C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4282G>A	17.37:g.10538231C>T	ENSP00000464317:p.Asp1428Asn						p.D1428N	NM_002470	NP_002461	P11055	MYH3_HUMAN			30	4359	-			1428			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4282G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458008	0.96240	.	.	ENSG00000109063	ENST00000226209	D	0.82344	-1.6	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.94902	0.8352	H	0.98256	4.185	0.51233	D	0.999919	D	0.76494	0.999	D	0.79108	0.992	D	0.96658	0.9487	9	0.87932	D	0	.	19.2407	0.93881	0.0:1.0:0.0:0.0	.	1428	P11055	MYH3_HUMAN	N	1428	ENSP00000226209:D1428N	ENSP00000226209:D1428N	D	-	1	0	MYH3	10478956	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.604000	0.88044	0.655000	0.94253	GAT		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		53	36	0	0	0	0.01441	0	53	36		
UTP6	55813	broad.mit.edu	37	17	30205295	30205295	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:30205295G>C	ENST00000261708.4	-	13	1236	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	367					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CATTCTGACAGAAGCTTCAGT	0.408																																						uc002hgr.2		NaN																	0				ovary(1)	1						c.(1099-1101)CTG>GTG		hepatocellular carcinoma-associated antigen 66							165.0	159.0	161.0					17																	30205295		2203	4300	6503	SO:0001583	missense	55813				rRNA processing	nucleolus	binding	g.chr17:30205295G>C	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1099C>G	17.37:g.30205295G>C	ENSP00000261708:p.Leu367Val					UTP6_uc002hgq.2_Missense_Mutation_p.L183V|UTP6_uc010cst.2_Missense_Mutation_p.L216V	p.L367V	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN			13	1182	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	367					Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	c.1099C>G	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397755	0.25205	.	.	ENSG00000108651	ENST00000261708	T	0.34275	1.37	5.03	1.54	0.23209	.	0.000000	0.64402	D	0.000001	T	0.40595	0.1123	L	0.58669	1.825	0.18873	N	0.999988	D;D	0.69078	0.997;0.997	P;P	0.55965	0.788;0.788	T	0.17961	-1.0352	10	0.26408	T	0.33	-9.2799	6.0425	0.19742	0.3786:0.0:0.6214:0.0	.	367;367	B3KQ21;Q9NYH9	.;UTP6_HUMAN	V	367	ENSP00000261708:L367V	ENSP00000261708:L367V	L	-	1	2	UTP6	27229408	1.000000	0.71417	0.053000	0.19242	0.258000	0.26162	1.468000	0.35332	0.457000	0.26962	0.650000	0.86243	CTG		0.408	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2		NM_018428		17	77	0	0	0	0.01892	0	17	77		
UTP18	51096	broad.mit.edu	37	17	49340655	49340655	+	Silent	SNP	G	G	C	rs569494747		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:49340655G>C	ENST00000225298.7	+	2	420	c.363G>C	c.(361-363)tcG>tcC	p.S121S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	121					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S121S(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATGAAGACTCGGGTGACTCAG	0.438																																						uc002its.2		NaN																	1	Substitution - coding silent(1)		breast(1)		0						c.(361-363)TCG>TCC		UTP18, small subunit processome component							147.0	147.0	147.0					17																	49340655		1927	4139	6066	SO:0001819	synonymous_variant	51096				rRNA processing	nucleolus		g.chr17:49340655G>C	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.363G>C	17.37:g.49340655G>C							p.S121S	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		2	412	+			121					Q9H4N6	Silent	SNP	ENST00000225298.7	37	c.363G>C	CCDS42362.1																																																																																				0.438	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1		NM_016001		10	46	0	0	0	0.010729	0	10	46		
ANKFN1	162282	broad.mit.edu	37	17	54431282	54431282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:54431282C>G	ENST00000318698.2	+	5	520	c.485C>G	c.(484-486)cCa>cGa	p.P162R	ANKFN1_ENST00000566473.2_Missense_Mutation_p.P162R	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	162										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGTACACACCAGAAGAACTT	0.493																																						uc002iun.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(484-486)CCA>CGA		ankyrin-repeat and fibronectin type III domain							210.0	147.0	168.0					17																	54431282		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54431282C>G	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.485C>G	17.37:g.54431282C>G	ENSP00000321627:p.Pro162Arg						p.P162R	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			5	520	+			162			ANK 1.			Missense_Mutation	SNP	ENST00000318698.2	37	c.485C>G	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.879936	0.17467	.	.	ENSG00000153930	ENST00000318698	T	0.34667	1.35	5.22	4.24	0.50183	Ankyrin repeat-containing domain (4);	0.371203	0.28772	N	0.014185	T	0.26340	0.0643	N	0.22421	0.69	0.09310	N	1	B	0.21381	0.055	B	0.26094	0.066	T	0.21827	-1.0234	10	0.56958	D	0.05	-2.2354	11.5442	0.50683	0.0:0.8577:0.0:0.1423	.	162	Q8N957	ANKF1_HUMAN	R	162	ENSP00000321627:P162R	ENSP00000321627:P162R	P	+	2	0	ANKFN1	51786281	0.002000	0.14202	0.989000	0.46669	0.221000	0.24807	1.344000	0.33941	2.426000	0.82243	0.655000	0.94253	CCA		0.493	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228		17	58	0	0	0	0.008871	0	17	58		
KIAA0195	9772	broad.mit.edu	37	17	73486837	73486837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:73486837C>T	ENST00000314256.7	+	11	1520	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	KIAA0195_ENST00000579208.1_Nonsense_Mutation_p.Q27*|KIAA0195_ENST00000375248.5_Nonsense_Mutation_p.Q386*	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	376						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTCCTCTCAGGTACAACA	0.557																																						uc002jnz.3		NaN																	0				ovary(1)	1						c.(1126-1128)CAG>TAG		hypothetical protein LOC9772							91.0	78.0	82.0					17																	73486837		2203	4300	6503	SO:0001587	stop_gained	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73486837C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1126C>T	17.37:g.73486837C>T	ENSP00000313885:p.Gln376*					KIAA0195_uc010wsa.1_Nonsense_Mutation_p.Q386*|KIAA0195_uc010wsb.1_Nonsense_Mutation_p.Q28*	p.Q376*	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1401	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		376					O75536|Q86XF1	Nonsense_Mutation	SNP	ENST00000314256.7	37	c.1126C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896846	0.72639	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	.	.	.	5.7	4.71	0.59529	.	0.058311	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-18.1047	15.8572	0.78989	0.1368:0.8632:0.0:0.0	.	.	.	.	X	376;386	.	ENSP00000313885:Q376X	Q	+	1	0	KIAA0195	70998432	0.995000	0.38212	0.974000	0.42286	0.083000	0.17756	2.586000	0.46119	1.378000	0.46305	0.563000	0.77884	CAG		0.557	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738		12	44	0	0	0	0.016723	0	12	44		
ARL16	339231	broad.mit.edu	37	17	79650829	79650829	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:79650829C>G	ENST00000397498.4	-	1	125	c.27G>C	c.(25-27)ttG>ttC	p.L9F	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000573392.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	9					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCCGCGGCTCAAGGCCCGCC	0.637																																						uc002kbf.2		NaN																	0					0						c.(25-27)TTG>TTC		ADP-ribosylation factor-like 16							14.0	17.0	16.0					17																	79650829		1906	4090	5996	SO:0001583	missense	339231						GTP binding	g.chr17:79650829C>G		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.27G>C	17.37:g.79650829C>G	ENSP00000380635:p.Leu9Phe					ARL16_uc002kbe.2_5'Flank|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	p.L9F	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		1	126	-	all_neural(118;0.0878)|all_lung(278;0.23)		9						Missense_Mutation	SNP	ENST00000397498.4	37	c.27G>C	CCDS45813.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006360	0.35415	.	.	ENSG00000214087	ENST00000397498	T	0.71103	-0.54	4.35	3.38	0.38709	.	0.321263	0.14369	U	0.323920	T	0.60274	0.2256	L	0.61218	1.895	0.26272	N	0.978401	P	0.36616	0.561	B	0.30716	0.119	T	0.46693	-0.9173	10	0.11485	T	0.65	.	9.5319	0.39198	0.0:0.898:0.0:0.102	.	9	Q0P5N6	ARL16_HUMAN	F	9	ENSP00000380635:L9F	ENSP00000380635:L9F	L	-	3	2	ARL16	77261234	0.000000	0.05858	0.018000	0.16275	0.008000	0.06430	0.357000	0.20199	0.809000	0.34255	-0.126000	0.14955	TTG		0.637	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1		XM_290777		4	28	0	0	0	0.009096	0	4	28		
ZNF750	79755	broad.mit.edu	37	17	80789199	80789199	+	Missense_Mutation	SNP	C	C	T	rs200817916		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80789199C>T	ENST00000269394.3	-	2	1965	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	378					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATTGGACTTTCGAACTCGACG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.0					uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(1132-1134)GAA>AAA		zinc finger protein 750							87.0	94.0	91.0					17																	80789199		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80789199C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1132G>A	17.37:g.80789199C>T	ENSP00000269394:p.Glu378Lys					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.E378K	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1443	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	378					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1132G>A	CCDS11819.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.94	2.386612	0.42308	.	.	ENSG00000141579	ENST00000269394	T	0.13657	2.57	4.62	4.62	0.57501	.	0.088346	0.47455	D	0.000228	T	0.18173	0.0436	M	0.71581	2.175	0.80722	D	1	P	0.50066	0.931	B	0.42062	0.374	T	0.02244	-1.1189	9	.	.	.	-22.4478	12.6696	0.56860	0.0:0.8337:0.1663:0.0	.	378	Q32MQ0	ZN750_HUMAN	K	378	ENSP00000269394:E378K	.	E	-	1	0	ZNF750	78382488	0.843000	0.29541	0.374000	0.26016	0.476000	0.33039	2.270000	0.43355	2.286000	0.76751	0.563000	0.77884	GAA		0.572	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		22	108	0	0	0	0.005443	0	22	108		
TBCD	6904	broad.mit.edu	37	17	80887006	80887006	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80887006G>T	ENST00000355528.4	+	31	2841	c.2711G>T	c.(2710-2712)tGc>tTc	p.C904F	TBCD_ENST00000539345.2_Missense_Mutation_p.C904F	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	904					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGCATCATGTGCTGTGTGGCC	0.612																																						uc002kfz.2		NaN																	0					0						c.(2710-2712)TGC>TTC		beta-tubulin cofactor D							63.0	69.0	67.0					17																	80887006		2173	4272	6445	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80887006G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2711G>T	17.37:g.80887006G>T	ENSP00000347719:p.Cys904Phe					TBCD_uc002kfy.1_Missense_Mutation_p.C904F|TBCD_uc002kgb.1_Missense_Mutation_p.C229F|TBCD_uc002kgc.2_Missense_Mutation_p.C49F|TBCD_uc002kgd.2_5'Flank	p.C904F	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		31	2841	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	904					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2711G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274608	0.80580	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.67865	-0.29	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.67569	2.06	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.928	D;D;P	0.85130	0.982;0.997;0.547	T	0.79792	-0.1654	9	.	.	.	.	16.4133	0.83726	0.0:0.0:1.0:0.0	.	655;904;904	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	F	904;655	ENSP00000347719:C904F	.	C	+	2	0	TBCD	78480295	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	8.367000	0.90113	2.471000	0.83476	0.655000	0.94253	TGC		0.612	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		NM_005993		7	71	1	0	0.00448238	0.004482	0.0047183	7	71		
LAMA3	3909	broad.mit.edu	37	18	21519274	21519274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr18:21519274C>T	ENST00000313654.9	+	68	9191	c.8950C>T	c.(8950-8952)Cat>Tat	p.H2984Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.H2928Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.H1319Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.H1375Y|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2984					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCAGGCCAATCATGGAGCCCT	0.547																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8950-8952)CAT>TAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						159.0	157.0	158.0					18																	21519274		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21519274C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8950C>T	18.37:g.21519274C>T	ENSP00000324532:p.His2984Tyr					LAMA3_uc002kur.2_Missense_Mutation_p.H2928Y|LAMA3_uc002kus.3_Missense_Mutation_p.H1375Y|LAMA3_uc002kut.3_Missense_Mutation_p.H1319Y	p.H2984Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			68	9036	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2984					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8950C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842717	0.51057	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18338	2.24;2.22;3.79	5.58	4.62	0.57501	Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.12518	0.0304	L	0.27053	0.805	0.09310	N	0.999998	P;P;B;P	0.46859	0.861;0.861;0.004;0.885	B;B;B;B	0.37650	0.255;0.255;0.002;0.177	T	0.12192	-1.0557	9	0.51188	T	0.08	.	12.4197	0.55514	0.1788:0.8212:0.0:0.0	.	1319;1375;2928;2984	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Y	2984;2928;1375	ENSP00000324532:H2984Y;ENSP00000382432:H2928Y;ENSP00000269217:H1375Y	ENSP00000269217:H1375Y	H	+	1	0	LAMA3	19773272	0.000000	0.05858	0.080000	0.20451	0.622000	0.37654	0.186000	0.16978	2.626000	0.88956	0.561000	0.74099	CAT		0.547	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		75	196	0	0	0	0.01441	0	75	196		
RNF126	55658	broad.mit.edu	37	19	648951	648951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:648951C>A	ENST00000292363.5	-	7	756	c.601G>T	c.(601-603)Ggc>Tgc	p.G201C		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTGGGGGGCCTGTGTTTTCA	0.622																																						uc010drs.2		NaN																	0					0						c.(601-603)GGC>TGC		ring finger protein 126							33.0	38.0	36.0					19																	648951		2193	4298	6491	SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:648951C>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.601G>T	19.37:g.648951C>A	ENSP00000292363:p.Gly201Cys					RNF126_uc002lpi.2_Missense_Mutation_p.G25C	p.G201C	NM_194460	NP_919442	Q9BV68	RN126_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	707	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	201						Missense_Mutation	SNP	ENST00000292363.5	37	c.601G>T	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.643516	0.87859	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.21932	1.98	4.03	4.03	0.46877	.	0.112956	0.64402	D	0.000012	T	0.53738	0.1815	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.66803	-0.5831	10	0.87932	D	0	.	15.5152	0.75818	0.0:1.0:0.0:0.0	.	201;53	Q9BV68-2;Q9NPN4	.;.	C	201	ENSP00000292363:G201C	ENSP00000292363:G201C	G	-	1	0	RNF126	599951	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	7.686000	0.84128	1.959000	0.56917	0.491000	0.48974	GGC		0.622	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2		NM_017876		4	13	1	0	0.000602214	0.014758	0.000642934	4	13		
REEP6	92840	broad.mit.edu	37	19	1489889	1489889	+	5'Flank	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1489889G>C	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_Intron|PCSK4_ENST00000300954.5_Missense_Mutation_p.P66R	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CTGCCCGTCAGGGAAGATCTG	0.672																																						uc002ltb.1		NaN																	0					0						c.(196-198)CCT>CGT		proprotein convertase subtilisin/kexin type 4							14.0	16.0	15.0					19																	1489889		2199	4293	6492	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1489889G>C	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1489889G>C	Exception_encountered					PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	p.P66R	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	259	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	66	P -> S (in Ref. 1; AAQ89322 and 3; AAH36354).				B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.197C>G	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810317	0.32053	.	.	ENSG00000115257	ENST00000300954	T	0.29142	1.58	3.13	1.99	0.26369	Proteinase inhibitor, propeptide (1);	0.284954	0.23642	N	0.046015	T	0.24736	0.0600	M	0.68593	2.085	0.29992	N	0.816826	P	0.40731	0.728	B	0.34452	0.183	T	0.20438	-1.0275	10	0.41790	T	0.15	.	6.8123	0.23811	0.0:0.0:0.6141:0.3859	.	66	Q6UW60	PCSK4_HUMAN	R	66	ENSP00000300954:P66R	ENSP00000300954:P66R	P	-	2	0	PCSK4	1440889	0.987000	0.35691	0.974000	0.42286	0.813000	0.45954	2.709000	0.47160	1.606000	0.50161	0.561000	0.74099	CCT		0.672	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1		NM_138393		3	14	0	0	0	0.014758	0	3	14		
MBD3	53615	broad.mit.edu	37	19	1584563	1584563	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1584563C>T	ENST00000434436.3	-	3	513	c.384G>A	c.(382-384)caG>caA	p.Q128Q	AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Silent_p.Q96Q|MBD3_ENST00000156825.1_Silent_p.Q128Q|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Silent_p.Q72Q|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	128					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCCTTCTGCGGGTCGC	0.632																																						uc002ltl.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(382-384)CAG>CAA		methyl-CpG binding domain protein 3							97.0	85.0	89.0					19																	1584563		2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1584563C>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.384G>A	19.37:g.1584563C>T						MBD3_uc002ltj.2_Silent_p.Q128Q|MBD3_uc002ltk.2_Silent_p.Q96Q	p.Q128Q	NM_003926	NP_003917	O95983	MBD3_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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	3	406	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	128					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.384G>A	CCDS12072.1																																																																																				0.632	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2		NM_003926		25	89	0	0	0	0.004656	0	25	89		
SH3GL1	6455	broad.mit.edu	37	19	4363777	4363777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:4363777C>G	ENST00000269886.3	-	6	742	c.564G>C	c.(562-564)gaG>gaC	p.E188D	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E140D|SH3GL1_ENST00000598564.1_Missense_Mutation_p.E124D	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	188	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCTCGAACTTCTCCAGCGCCT	0.582			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NaN		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.(562-564)GAG>GAC		SH3-domain GRB2-like 1							79.0	75.0	77.0					19																	4363777		2203	4300	6503	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4363777C>G		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.564G>C	19.37:g.4363777C>G	ENSP00000269886:p.Glu188Asp					SH3GL1_uc002mak.2_Missense_Mutation_p.E124D|SH3GL1_uc010xig.1_Missense_Mutation_p.E140D	p.E188D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	6	670	-			188			Potential.|BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.564G>C	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.435810	0.62955	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.64085	-0.08;-0.08	4.59	3.53	0.40419	BAR (3);	0.057626	0.64402	N	0.000002	T	0.71151	0.3306	M	0.69358	2.11	0.54753	D	0.999983	P;D;D	0.57257	0.757;0.979;0.979	P;D;D	0.64776	0.722;0.929;0.929	T	0.68961	-0.5271	10	0.39692	T	0.17	1.0841	7.8381	0.29382	0.0:0.7476:0.1647:0.0877	.	140;188;188	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	D	188;140	ENSP00000269886:E188D;ENSP00000404568:E140D	ENSP00000269886:E188D	E	-	3	2	SH3GL1	4314777	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.629000	0.37071	1.029000	0.39812	-0.305000	0.09177	GAG		0.582	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		20	85	0	0	0	0.012319	0	20	85		
NRTN	4902	broad.mit.edu	37	19	5824095	5824095	+	5'UTR	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:5824095C>A	ENST00000303212.2	+	0	283				AC011499.1_ENST00000579264.1_RNA	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin						axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)			large_intestine(1)	1						ACACTGAGTCCTGGCCCAGCG	0.632																																						uc002mde.2		NaN																	0					0						c.(-83--79)TCCTG>TCATG		neurturin preproprotein																																				SO:0001623	5_prime_UTR_variant	4902				axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity	g.chr19:5824095C>A	U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"""Endogenous ligands"""	8007	protein-coding gene	gene with protein product	"""prepro-neurturin"""	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.-82C>A	19.37:g.5824095C>A								NM_004558	NP_004549	Q99748	NRTN_HUMAN			1	278	+								B2RPE8	Translation_Start_Site	SNP	ENST00000303212.2	37	c.-81C>A	CCDS12151.1																																																																																				0.632	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451882.2		NM_004558		5	27	1	0	0.000602214	0.014758	0.000642934	5	27		
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:6230661C>A	ENST00000252674.7	-	4	503	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	114					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612			T	MLL	AL																																	uc002mek.2		NaN		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(340-342)GTG>TTG		myeloid/lymphoid or mixed-lineage leukemia							169.0	169.0	169.0					19																	6230661		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230661C>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.340G>T	19.37:g.6230661C>A	ENSP00000252674:p.Val114Leu						p.V114L	NM_005934	NP_005925	Q03111	ENL_HUMAN			4	504	-			114					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.340G>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166057	0.78339	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.81802	2.56	0.80722	D	1	P	0.51933	0.949	P	0.59761	0.863	T	0.81562	-0.0876	9	0.72032	D	0.01	-28.3179	16.3961	0.83605	0.0:1.0:0.0:0.0	.	114	Q03111	ENL_HUMAN	L	114	.	ENSP00000252674:V114L	V	-	1	0	MLLT1	6181661	1.000000	0.71417	0.511000	0.27724	0.409000	0.31022	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GTG		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1		NM_005934		97	162	1	0	2.17066e-49	0.01441	2.60479e-49	97	162		
CNN1	1264	broad.mit.edu	37	19	11660204	11660204	+	Missense_Mutation	SNP	G	G	A	rs560009499		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:11660204G>A	ENST00000252456.2	+	6	779	c.568G>A	c.(568-570)Gac>Aac	p.D190N	CNN1_ENST00000592923.1_Missense_Mutation_p.D140N|CNN1_ENST00000544952.1_Missense_Mutation_p.D170N|CNN1_ENST00000535659.2_Missense_Mutation_p.D140N	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	190					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CCACCTCTACGACCCCAAGCT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12173	0.0		0.0	False		,,,				2504	0.0					uc002msc.1		NaN																	0					0						c.(568-570)GAC>AAC		calponin 1, basic, smooth muscle							56.0	56.0	56.0					19																	11660204		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660204G>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.568G>A	19.37:g.11660204G>A	ENSP00000252456:p.Asp190Asn					CNN1_uc010xmb.1_Missense_Mutation_p.D140N|CNN1_uc010xmc.1_Missense_Mutation_p.D140N	p.D190N	NM_001299	NP_001290	P51911	CNN1_HUMAN			6	732	+			190					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.568G>A	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674516	0.67928	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.35048	1.35;1.33;1.36	5.21	4.18	0.49190	.	0.148384	0.64402	N	0.000014	T	0.33411	0.0862	M	0.64676	1.99	0.58432	D	0.999994	D	0.54772	0.968	B	0.38428	0.273	T	0.29088	-1.0023	10	0.54805	T	0.06	-67.9384	12.4504	0.55675	0.0833:0.0:0.9167:0.0	.	190	P51911	CNN1_HUMAN	N	190;140;170	ENSP00000252456:D190N;ENSP00000442031:D140N;ENSP00000437470:D170N	ENSP00000252456:D190N	D	+	1	0	CNN1	11521204	1.000000	0.71417	0.917000	0.36280	0.978000	0.69477	5.209000	0.65208	1.204000	0.43247	0.471000	0.43371	GAC		0.617	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1		NM_001299		16	77	0	0	0	0.007413	0	16	77		
COMP	1311	broad.mit.edu	37	19	18902016	18902016	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:18902016C>A	ENST00000222271.2	-	1	107	c.63G>T	c.(61-63)caG>caT	p.Q21H	COMP_ENST00000425807.1_Missense_Mutation_p.Q21H|COMP_ENST00000542601.2_De_novo_Start_OutOfFrame	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	21					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCTCTGGCCCTGTCCGGACG	0.697																																						uc002nke.2		NaN																	0					0						c.(61-63)CAG>CAT		cartilage oligomeric matrix protein precursor							24.0	32.0	29.0					19																	18902016		2178	4281	6459	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18902016C>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.63G>T	19.37:g.18902016C>A	ENSP00000222271:p.Gln21His					COMP_uc002nkd.2_Translation_Start_Site|COMP_uc010xqj.1_Missense_Mutation_p.Q21H	p.Q21H	NM_000095	NP_000086	P49747	COMP_HUMAN			1	99	-			21					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.63G>T	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298845	0.40694	.	.	ENSG00000105664	ENST00000222271;ENST00000425807;ENST00000454701	D;D	0.84442	-1.57;-1.85	3.6	3.6	0.41247	.	0.830087	0.09922	U	0.738318	D	0.86977	0.6063	L	0.29908	0.895	0.35301	D	0.783069	D;D	0.57571	0.98;0.98	D;D	0.66979	0.948;0.948	D	0.86111	0.1562	10	0.56958	D	0.05	-22.9747	10.8889	0.46984	0.0:1.0:0.0:0.0	.	21;21	B4DKJ3;P49747	.;COMP_HUMAN	H	21	ENSP00000222271:Q21H;ENSP00000403792:Q21H	ENSP00000222271:Q21H	Q	-	3	2	COMP	18763016	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	3.441000	0.52893	2.042000	0.60477	0.313000	0.20887	CAG		0.697	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		9	8	1	0	7.48243e-07	0.006214	8.28313e-07	9	8		
ZNF737	100129842	broad.mit.edu	37	19	20728275	20728275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20728275G>A	ENST00000427401.4	-	4	828	c.734C>T	c.(733-735)aCt>aTt	p.T245I		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	245					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTATGTGCAGTAAGGTATGA	0.403																																						uc002npa.2		NaN																	0				ovary(1)	1						c.(733-735)ACT>ATT		zinc finger protein 737							38.0	38.0	38.0					19																	20728275		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728275G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.734C>T	19.37:g.20728275G>A	ENSP00000395733:p.Thr245Ile						p.T245I	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	914	-			245					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.734C>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	5.154	0.213983	0.09810	.	.	ENSG00000237440	ENST00000427401	T	0.35605	1.3	0.801	-0.56	0.11789	.	.	.	.	.	T	0.17534	0.0421	N	0.12831	0.26	0.09310	N	1	B	0.29627	0.252	B	0.32805	0.153	T	0.25502	-1.0130	9	0.30854	T	0.27	.	3.3977	0.07312	0.6465:0.0:0.3535:0.0	.	245	C9JHM3	.	I	245	ENSP00000395733:T245I	ENSP00000395733:T245I	T	-	2	0	ZNF737	20520115	0.000000	0.05858	0.030000	0.17652	0.030000	0.12068	-0.959000	0.03853	0.170000	0.19704	0.173000	0.16961	ACT		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		3	26	0	0	0	0.004672	0	3	26		
ZNF626	199777	broad.mit.edu	37	19	20828521	20828521	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20828521C>A	ENST00000601440.1	-	3	341	c.195G>T	c.(193-195)atG>atT	p.M65I	ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		M -> T (in dbSNP:rs8106117).		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						CATTTCTCTTCATGGTCAAAG	0.388																																						uc002npb.1		NaN																	0				skin(1)	1						c.(193-195)ATG>ATT		zinc finger protein 626 isoform 1							115.0	107.0	110.0					19																	20828521		2203	4300	6503	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20828521C>A	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.195G>T	19.37:g.20828521C>A	ENSP00000469958:p.Met65Ile					ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.M65I	p.M65I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	345	-			65			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.195G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	1.645	-0.515434	0.04200	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.00808	5.67	0.171	0.171	0.15026	Krueppel-associated box (1);	.	.	.	.	T	0.00695	0.0023	N	0.13352	0.335	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.18871	0.007;0.023	T	0.46076	-0.9217	8	0.29301	T	0.29	.	.	.	.	.	65;65	Q96QM1;Q68DY1	.;ZN626_HUMAN	I	65	ENSP00000291750:M65I	ENSP00000291750:M65I	M	-	3	0	ZNF626	20620361	0.001000	0.12720	0.013000	0.15412	0.013000	0.08279	-1.054000	0.03496	0.276000	0.22118	0.281000	0.19383	ATG		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		4	45	1	0	0.00024832	0.009096	0.000267011	4	45		
ZNF626	199777	broad.mit.edu	37	19	20829085	20829085	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20829085C>A	ENST00000601440.1	-	2	276	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	ZNF626_ENST00000291750.6_Splice_Site_p.G44C|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTATCCTCACCAAGGAAGACC	0.333																																						uc002npb.1		NaN																	0				skin(1)	1						c.(130-132)GGT>TGT		zinc finger protein 626 isoform 1							99.0	99.0	99.0					19																	20829085		2203	4300	6503	SO:0001630	splice_region_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20829085C>A	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.130+1G>T	19.37:g.20829085C>A						ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.G44C	p.G44C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			2	280	-			44			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.130G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.771401	0.31320	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.03004	4.08	1.02	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.23532	0.0569	H	0.96604	3.85	0.23243	N	0.99806	D;D	0.89917	0.991;1.0	D;D	0.97110	0.933;1.0	T	0.04855	-1.0922	8	.	.	.	.	5.2452	0.15493	0.0:1.0:0.0:0.0	.	44;44	Q96QM1;Q68DY1	.;ZN626_HUMAN	C	44	ENSP00000291750:G44C	.	G	-	1	0	ZNF626	20620925	0.752000	0.28338	0.082000	0.20525	0.078000	0.17371	1.621000	0.36986	0.439000	0.26476	0.442000	0.29010	GGT		0.333	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297	Missense_Mutation	13	80	1	0	1.05317e-09	0.020292	1.21054e-09	13	80		
KMT2B	9757	broad.mit.edu	37	19	36212397	36212397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:36212397G>C	ENST00000222270.7	+	3	2148	c.2148G>C	c.(2146-2148)aaG>aaC	p.K716N	KMT2B_ENST00000420124.1_Missense_Mutation_p.K716N|KMT2B_ENST00000341701.1_Missense_Mutation_p.R572T|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	716	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCCTGTTAAGGCCGAGGTGT	0.657																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2146-2148)AAG>AAC		myeloid/lymphoid or mixed-lineage leukemia 4							39.0	48.0	45.0					19																	36212397		2066	4207	6273	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212397G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2148G>C	19.37:g.36212397G>C	ENSP00000222270:p.Lys716Asn						p.K716N	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2148	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		716			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2148G>C	CCDS46055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.784195|1.784195	0.31593|0.31593	.|.	.|.	ENSG00000105663|ENSG00000105663	ENST00000222270;ENST00000420124|ENST00000341701	D;D|T	0.85556|0.48522	-2.0;-2.0|0.81	4.91|4.91	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.42172|.	D|.	0.000746|.	T|T	0.34571|0.34571	0.0902|0.0902	N|N	0.19112|0.19112	0.55|0.55	0.31716|0.31716	N|N	0.638929|0.638929	D|.	0.71674|.	0.998|.	D|.	0.76071|.	0.987|.	T|T	0.37454|0.37454	-0.9705|-0.9705	10|7	0.46703|0.19147	T|T	0.11|0.46	.|.	10.8853|10.8853	0.46964|0.46964	0.0902:0.0:0.9098:0.0|0.0902:0.0:0.9098:0.0	.|.	716|.	Q9UMN6|.	MLL4_HUMAN|.	N|T	716|572	ENSP00000222270:K716N;ENSP00000398837:K716N|ENSP00000345761:R572T	ENSP00000222270:K716N|ENSP00000345761:R572T	K|R	+|+	3|2	2|0	AD000671.1|AD000671.1	40904237|40904237	1.000000|1.000000	0.71417|0.71417	0.700000|0.700000	0.30305|0.30305	0.985000|0.985000	0.73830|0.73830	2.470000|2.470000	0.45119|0.45119	1.276000|1.276000	0.44395|0.44395	0.542000|0.542000	0.68232|0.68232	AAG|AGG		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		15	76	0	0	0	0.00499	0	15	76		
ZNF383	163087	broad.mit.edu	37	19	37733545	37733545	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:37733545G>C	ENST00000589413.1	+	8	990	c.407G>C	c.(406-408)gGg>gCg	p.G136A	ZNF383_ENST00000352998.3_Missense_Mutation_p.G136A|ZNF383_ENST00000590503.1_Missense_Mutation_p.G136A			Q8NA42	ZN383_HUMAN	zinc finger protein 383	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCCAAATGGGCATTTTAGT	0.378																																						uc002oft.1		NaN																	0				ovary(1)|skin(1)	2						c.(406-408)GGG>GCG		zinc finger protein 383							100.0	109.0	106.0					19																	37733545		2202	4300	6502	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733545G>C	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.407G>C	19.37:g.37733545G>C	ENSP00000464871:p.Gly136Ala					ZNF383_uc002ofs.1_Missense_Mutation_p.G71A|ZNF383_uc002ofu.1_Missense_Mutation_p.G136A	p.G136A	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	987	+			136					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.407G>C	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254357	0.01457	.	.	ENSG00000188283	ENST00000352998	T	0.05925	3.37	3.15	1.0	0.19881	.	.	.	.	.	T	0.04092	0.0114	N	0.17082	0.46	0.23192	N	0.998148	B	0.15930	0.015	B	0.20767	0.031	T	0.45629	-0.9248	9	0.26408	T	0.33	.	7.3257	0.26553	0.2317:0.0:0.7683:0.0	.	136	Q8NA42	ZN383_HUMAN	A	136	ENSP00000340132:G136A	ENSP00000340132:G136A	G	+	2	0	ZNF383	42425385	0.101000	0.21875	0.862000	0.33874	0.604000	0.37047	-0.232000	0.09055	0.367000	0.24454	-0.253000	0.11424	GGG		0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1		NM_152604		17	82	0	0	0	0.008871	0	17	82		
FBXO27	126433	broad.mit.edu	37	19	39521746	39521746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:39521746C>G	ENST00000292853.4	-	4	614	c.495G>C	c.(493-495)caG>caC	p.Q165H	CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Missense_Mutation_p.Q165H|FBXO27_ENST00000600828.1_Missense_Mutation_p.Q164H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	165	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGTCCAAGACCTGCTTCTTGC	0.527																																						uc002okh.2		NaN																	0				ovary(1)	1						c.(493-495)CAG>CAC		F-box protein 27							163.0	144.0	150.0					19																	39521746		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521746C>G	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.495G>C	19.37:g.39521746C>G	ENSP00000292853:p.Gln165His						p.Q165H	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	577	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		165			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.495G>C	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910751	0.52439	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.45668	0.89;0.89	3.99	0.664	0.17890	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.778709	0.10885	N	0.623360	T	0.63367	0.2505	M	0.90252	3.1	0.22226	N	0.999278	D	0.71674	0.998	D	0.67900	0.954	T	0.48725	-0.9010	10	0.51188	T	0.08	-0.8253	5.219	0.15358	0.0:0.585:0.0:0.415	.	165	Q8NI29	FBX27_HUMAN	H	165	ENSP00000292853:Q165H;ENSP00000437662:Q165H	ENSP00000292853:Q165H	Q	-	3	2	FBXO27	44213586	0.323000	0.24643	0.739000	0.30968	0.779000	0.44077	0.560000	0.23500	0.430000	0.26230	0.479000	0.44913	CAG		0.527	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1				29	144	0	0	0	0.012213	0	29	144		
HIPK4	147746	broad.mit.edu	37	19	40895437	40895437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:40895437C>T	ENST00000291823.2	-	1	657	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTGAGCCGGGCCAGGGCTGTG	0.602																																						uc002onp.2		NaN																	0				ovary(1)|stomach(1)	2						c.(373-375)GCC>ACC		homeodomain interacting protein kinase 4							59.0	61.0	60.0					19																	40895437		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895437C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.373G>A	19.37:g.40895437C>T	ENSP00000291823:p.Ala125Thr						p.A125T	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	658	-			125			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.373G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661562	0.67700	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.66995	-0.24	5.08	4.04	0.47022	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	0.51477	D	0.000083	T	0.61035	0.2315	L	0.45137	1.4	0.34907	D	0.747059	P	0.47484	0.896	P	0.48952	0.596	T	0.64655	-0.6356	10	0.16896	T	0.51	.	8.9777	0.35946	0.0:0.8293:0.0:0.1707	.	125	Q8NE63	HIPK4_HUMAN	T	125;90	ENSP00000291823:A125T	ENSP00000291823:A125T	A	-	1	0	HIPK4	45587277	0.868000	0.29978	1.000000	0.80357	0.993000	0.82548	0.213000	0.17521	1.376000	0.46267	0.462000	0.41574	GCC		0.602	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1		NM_144685		19	92	0	0	0	0.01892	0	19	92		
CYP2A7	1549	broad.mit.edu	37	19	41386396	41386396	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:41386396G>T	ENST00000301146.4	-	3	1022	c.481C>A	c.(481-483)Cgg>Agg	p.R161R	CYP2A7_ENST00000291764.3_Silent_p.R110R|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	161						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCGTGCTCCGGATGGCCTCG	0.662																																						uc002opm.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(481-483)CGG>AGG		cytochrome P450, family 2, subfamily A,							52.0	49.0	50.0					19																	41386396		2202	4300	6502	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386396G>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.481C>A	19.37:g.41386396G>T						CYP2A7_uc002opo.2_Silent_p.R161R|CYP2A7_uc002opn.2_Silent_p.R110R	p.R161R	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1023	-			161					Q13121	Silent	SNP	ENST00000301146.4	37	c.481C>A	CCDS12569.1																																																																																				0.662	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2		NM_030589		29	173	1	0	1.836e-18	0.017118	2.16851e-18	29	173		
IRGC	56269	broad.mit.edu	37	19	44223733	44223733	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44223733G>A	ENST00000244314.5	+	2	1222	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	341						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCGCCTGAGACTGTCCTGC	0.677																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1021-1023)GAG>GAA		immunity-related GTPase family, cinema							44.0	46.0	46.0					19																	44223733		2203	4300	6503	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223733G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1023G>A	19.37:g.44223733G>A							p.E341E	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	1170	+		Prostate(69;0.0435)	341					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.1023G>A	CCDS12629.1																																																																																				0.677	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1		NM_019612		10	64	0	0	0	0.010729	0	10	64		
ZNF227	7770	broad.mit.edu	37	19	44739769	44739769	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44739769C>T	ENST00000313040.7	+	6	1391	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	ZNF227_ENST00000391961.2_Missense_Mutation_p.R345C|ZNF227_ENST00000589005.1_Missense_Mutation_p.R345C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TGTTAATCTCCGTGTTCACCA	0.463																																						uc002oyu.2		NaN																	0				ovary(1)	1						c.(1186-1188)CGT>TGT		zinc finger protein 227							83.0	90.0	88.0					19																	44739769		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739769C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1186C>T	19.37:g.44739769C>T	ENSP00000321049:p.Arg396Cys					ZNF227_uc010xwu.1_Missense_Mutation_p.R345C|ZNF227_uc002oyv.2_Missense_Mutation_p.R396C|ZNF227_uc010xwv.1_Missense_Mutation_p.R345C|ZNF227_uc010xww.1_Missense_Mutation_p.R317C|ZNF227_uc002oyw.2_Missense_Mutation_p.R368C|ZNF227_uc010ejh.2_Missense_Mutation_p.R389C|ZNF235_uc002oyx.1_Intron	p.R396C	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	1391	+		Prostate(69;0.0435)	396			C2H2-type 5.		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1186C>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588677	0.46110	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.07688	5.4;3.17	4.45	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23451	0.0567	M	0.76328	2.33	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.81914	0.835;0.835;0.995;0.835	T	0.04621	-1.0938	9	0.41790	T	0.15	.	6.3879	0.21572	0.3614:0.4882:0.1504:0.0	.	317;375;348;396	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	C	396;353;345;375;97	ENSP00000321049:R396C;ENSP00000375823:R345C	ENSP00000321049:R396C	R	+	1	0	ZNF227	49431609	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	-1.228000	0.02948	2.165000	0.68154	0.563000	0.77884	CGT		0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1		NM_182490		19	39	0	0	0	0.008871	0	19	39		
ZNF112	7771	broad.mit.edu	37	19	44832239	44832239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44832239C>G	ENST00000337401.4	-	5	2177	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	ZNF112_ENST00000354340.4_Missense_Mutation_p.E691Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.E714Q	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTACCACACTCATCACATTGG	0.448																																						uc010ejj.2		NaN																	0				ovary(3)|skin(2)	5						c.(2089-2091)GAG>CAG		zinc finger protein 228 isoform 1							105.0	87.0	93.0					19																	44832239		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832239C>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2089G>C	19.37:g.44832239C>G	ENSP00000337081:p.Glu697Gln					ZFP112_uc002ozc.3_Missense_Mutation_p.E691Q|ZFP112_uc010xwy.1_Missense_Mutation_p.E714Q|ZFP112_uc010xwz.1_Missense_Mutation_p.E696Q	p.E697Q	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2202	-			697			C2H2-type 11.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2089G>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586606	0.46110	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.35789	1.29;1.29;1.29	5.0	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003978	T	0.13072	0.0317	N	0.03238	-0.38	0.09310	N	1	B;B;B	0.33807	0.426;0.373;0.426	B;B;B	0.29176	0.099;0.097;0.099	T	0.09100	-1.0690	10	0.42905	T	0.14	-18.6687	6.0401	0.19730	0.0:0.6626:0.1689:0.1685	.	696;714;697	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	697;697;691;714;696	ENSP00000337081:E697Q;ENSP00000346305:E691Q;ENSP00000441990:E714Q	ENSP00000253426:E696Q	E	-	1	0	ZNF285	49524079	0.000000	0.05858	0.965000	0.40720	0.989000	0.77384	0.169000	0.16641	2.484000	0.83849	0.655000	0.94253	GAG		0.448	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380		8	41	0	0	0	0.00308	0	8	41		
FBXO46	23403	broad.mit.edu	37	19	46216736	46216736	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46216736G>A	ENST00000317683.3	-	2	151	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	6										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAAGGGCAGGAGGCTCCCAC	0.657																																						uc002pcy.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(16-18)CTC>CTT		F-box protein 46							21.0	26.0	24.0					19																	46216736		2085	4212	6297	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46216736G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.18C>T	19.37:g.46216736G>A						FBXO46_uc002pcz.2_Silent_p.L6L	p.L6L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	143	-		Ovarian(192;0.179)|all_neural(266;0.224)	6						Silent	SNP	ENST00000317683.3	37	c.18C>T	CCDS46116.1																																																																																				0.657	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1		XM_371179		5	68	0	0	0	0.001168	0	5	68		
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607																																						uc002pep.2		NaN																	0				ovary(3)	3						c.(1108-1110)GAG>GGG		coiled-coil domain containing 8							123.0	122.0	122.0					19																	46914959		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914959T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1109A>G	19.37:g.46914959T>C	ENSP00000303158:p.Glu370Gly						p.E370G	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1961	-			370					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1109A>G	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.91|15.91	2.971482|2.971482	0.53614|0.53614	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.16897|.	2.31|.	3.24|3.24	-0.0364|-0.0364	0.13888|0.13888	.|.	0.000000|.	0.36740|.	N|.	0.002439|.	T|T	0.50888|0.50888	0.1642|0.1642	M|M	0.72894|0.72894	2.215|2.215	0.31196|0.31196	N|N	0.700308|0.700308	B|.	0.27910|.	0.193|.	B|.	0.24701|.	0.055|.	T|T	0.55023|0.55023	-0.8205|-0.8205	10|5	0.54805|.	T|.	0.06|.	-17.6206|-17.6206	6.7923|6.7923	0.23707|0.23707	0.0:0.3385:0.0:0.6615|0.0:0.3385:0.0:0.6615	.|.	370|.	Q9H0W5|.	CCDC8_HUMAN|.	G|G	370|217	ENSP00000303158:E370G|.	ENSP00000303158:E370G|.	E|R	-|-	2|1	0|2	CCDC8|CCDC8	51606799|51606799	0.001000|0.001000	0.12720|0.12720	0.017000|0.017000	0.16124|0.16124	0.019000|0.019000	0.09904|0.09904	0.551000|0.551000	0.23361|0.23361	-0.081000|-0.081000	0.12662|0.12662	0.260000|0.260000	0.18958|0.18958	GAG|AGG		0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		NM_032040		5	227	0	0	0	0.004482	0	5	227		
DHX34	9704	broad.mit.edu	37	19	47865903	47865903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:47865903C>G	ENST00000328771.4	+	6	1895	c.1546C>G	c.(1546-1548)Ccc>Gcc	p.P516A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	516	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCCCCTACCCCGTCCCAGA	0.652																																						uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1546-1548)CCC>GCC		DEAH (Asp-Glu-Ala-His) box polypeptide 34							22.0	22.0	22.0					19																	47865903		2195	4293	6488	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865903C>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1546C>G	19.37:g.47865903C>G	ENSP00000331907:p.Pro516Ala					DHX34_uc010elc.1_Missense_Mutation_p.P431A	p.P516A	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1887	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	516			Helicase C-terminal.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1546C>G	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693523	0.30052	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02472	4.28	5.6	4.55	0.56014	Helicase, C-terminal (1);	0.090110	0.47093	N	0.000248	T	0.02571	0.0078	N	0.12569	0.235	0.58432	D	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.53472	-0.8434	10	0.56958	D	0.05	-13.2604	15.1593	0.72771	0.0:0.8424:0.1576:0.0	.	516	Q14147	DHX34_HUMAN	A	516;431	ENSP00000331907:P516A	ENSP00000257252:P431A	P	+	1	0	DHX34	52557747	0.997000	0.39634	0.954000	0.39281	0.067000	0.16453	3.004000	0.49513	1.327000	0.45338	0.561000	0.74099	CCC		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		12	40	0	0	0	0.003163	0	12	40		
AP2A1	160	broad.mit.edu	37	19	50302585	50302585	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:50302585G>C	ENST00000359032.5	+	9	967	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	AP2A1_ENST00000354293.5_Splice_Site_p.E323Q	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	323					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTGGCAGTGAGCCCAACCT	0.637																																						uc002ppn.2		NaN																	0				ovary(2)	2						c.(967-969)GAG>CAG		adaptor-related protein complex 2, alpha 1							20.0	22.0	22.0					19																	50302585		2033	4170	6203	SO:0001630	splice_region_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302585G>C	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.966-1G>C	19.37:g.50302585G>C						AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.E323Q|AP2A1_uc002ppp.1_5'Flank	p.E323Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	9	1178	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	323					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.967G>C	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713837	0.89112	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26223	1.75;1.75	4.25	4.25	0.50352	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.84585	2.705	0.80722	D	1	P;P	0.43633	0.802;0.813	P;P	0.52856	0.711;0.571	T	0.58014	-0.7711	10	0.66056	D	0.02	.	15.5794	0.76422	0.0:0.0:1.0:0.0	.	323;323	O95782-2;O95782	.;AP2A1_HUMAN	Q	323	ENSP00000346246:E323Q;ENSP00000351926:E323Q	ENSP00000346246:E323Q	E	+	1	0	AP2A1	54994397	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.740000	0.84986	2.211000	0.71520	0.561000	0.74099	GAG		0.637	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			Missense_Mutation	11	31	0	0	0	0.020292	0	11	31		
LILRA2	11027	broad.mit.edu	37	19	55086317	55086318	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55086317_55086318GG>TA	ENST00000251377.3	+	5	605_606	c.472_473GG>TA	c.(472-474)GGa>TAa	p.G158*	LILRA2_ENST00000251376.3_Nonsense_Mutation_p.G158*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.G146*|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.G158*|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	158	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGTAAGGAAGGAGAAGATGAA	0.604																																						uc002qgg.3		NaN																	0				ovary(1)	1						c.(472-474)GGA>TAA		leukocyte immunoglobulin-like receptor,																																				SO:0001587	stop_gained	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086317_55086318GG>TA	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	Exception_encountered	19.37:g.55086317_55086318delinsTA	ENSP00000251377:p.Gly158*					LILRA2_uc010ern.2_Nonsense_Mutation_p.G158*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.G158*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.G158*|LILRA2_uc010yff.1_Nonsense_Mutation_p.G146*|LILRA2_uc010ero.2_Nonsense_Mutation_p.G146*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.G158*	p.G158*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	561_562	+			158			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Nonsense_Mutation	DNP	ENST00000251377.3	37	c.472_473GG>TA	CCDS46179.1																																																																																				0.604	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2				24	162	0	0	0	0.004672	0	24	162		
LILRA1	11024	broad.mit.edu	37	19	55106715	55106715	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55106715C>G	ENST00000251372.3	+	5	691	c.509C>G	c.(508-510)tCa>tGa	p.S170*	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Nonsense_Mutation_p.S170*|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	170	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCCTGAACTCACAGCCCCGT	0.567																																						uc002qgh.1		NaN																	0				skin(2)|ovary(1)	3						c.(508-510)TCA>TGA		leukocyte immunoglobulin-like receptor,							185.0	177.0	180.0					19																	55106715		2203	4300	6503	SO:0001587	stop_gained	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106715C>G	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.509C>G	19.37:g.55106715C>G	ENSP00000251372:p.Ser170*					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Nonsense_Mutation_p.S170*	p.S170*	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	691	+			170			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Nonsense_Mutation	SNP	ENST00000251372.3	37	c.509C>G	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493750	0.64186	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	.	.	.	2.24	1.08	0.20341	.	2.854100	0.01127	N	0.005903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.0078	0.24846	0.0:0.7116:0.2884:0.0	.	.	.	.	X	170	.	ENSP00000251372:S170X	S	+	2	0	LILRA1	59798527	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.314000	0.08092	0.205000	0.20568	0.194000	0.17425	TCA		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		NM_006863		36	208	0	0	0	0.00874	0	36	208		
KIR3DL1	3811	broad.mit.edu	37	19	55341573	55341573	+	Missense_Mutation	SNP	C	C	G	rs1130473		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55341573C>G	ENST00000391728.4	+	9	1211	c.1178C>G	c.(1177-1179)cCt>cGt	p.P393R	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P393R|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P298R|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P376R|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P376R|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	393					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GAACAAGACCCTGAGGAGGTG	0.522																																						uc002qhk.3		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1177-1179)CCT>CGT		killer cell immunoglobulin-like receptor, three							233.0	216.0	222.0					19																	55341573		2173	4164	6337	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341573C>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1178C>G	19.37:g.55341573C>G	ENSP00000375608:p.Pro393Arg					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P318R|KIR3DL1_uc010esf.2_Missense_Mutation_p.P298R|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P335R|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.P393R	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1241	+			393			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1178C>G	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.851	0.158214	0.09236	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00478	7.16;7.13;7.16;7.13;7.19	0.719	0.719	0.18208	.	.	.	.	.	T	0.01029	0.0034	H	0.94462	3.54	0.09310	N	1	B;B;B	0.32409	0.37;0.114;0.213	B;B;B	0.40602	0.334;0.058;0.186	T	0.11155	-1.0599	8	0.87932	D	0	.	.	.	.	.	376;298;393	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	R	393;376;371;393;376;298	ENSP00000443350:P393R;ENSP00000442355:P376R;ENSP00000375608:P393R;ENSP00000326868:P376R;ENSP00000350901:P298R	ENSP00000326868:P376R	P	+	2	0	KIR3DL1	60033385	0.002000	0.14202	0.007000	0.13788	0.017000	0.09413	1.856000	0.39389	0.680000	0.31366	0.184000	0.17185	CCT		0.522	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1		NM_013289		85	410	0	0	0	0.01441	0	85	410		
TNNT1	7138	broad.mit.edu	37	19	55653248	55653248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55653248C>G	ENST00000588981.1	-	7	373	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.E46Q|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Missense_Mutation_p.E46Q|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.E46Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.E57Q|TNNT1_ENST00000585321.2_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	57					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGCTCCCCTTCTGGGATCTTT	0.587																																						uc002qjb.3		NaN																	0				ovary(1)	1						c.(169-171)GAA>CAA		troponin T1, skeletal, slow isoform a							99.0	104.0	102.0					19																	55653248		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55653248C>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.169G>C	19.37:g.55653248C>G	ENSP00000467176:p.Glu57Gln					TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.E57Q|TNNT1_uc002qje.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjd.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjf.2_Missense_Mutation_p.E53Q	p.E57Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	7	258	-			57					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.169G>C	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048206	0.55110	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000429737	D;D;D	0.98792	-5.14;-5.14;-5.14	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	M	0.72353	2.195	0.80722	D	1	P;P;D;P	0.54964	0.9;0.939;0.969;0.948	B;P;P;P	0.53313	0.38;0.482;0.723;0.533	D	0.98667	1.0686	10	0.72032	D	0.01	-15.6281	13.6669	0.62401	0.0:1.0:0.0:0.0	.	57;46;57;57	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	Q	57;46;46;72	ENSP00000291901:E57Q;ENSP00000349233:E46Q;ENSP00000439640:E46Q	ENSP00000291901:E57Q	E	-	1	0	TNNT1	60345060	1.000000	0.71417	0.995000	0.50966	0.465000	0.32709	7.196000	0.77805	1.860000	0.53959	0.462000	0.41574	GAA		0.587	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283		35	212	0	0	0	0.011902	0	35	212		
SH3YL1	26751	broad.mit.edu	37	2	234213	234213	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234213G>C	ENST00000405430.1	-	7	727	c.351C>G	c.(349-351)ggC>ggG	p.G117G	SH3YL1_ENST00000403712.2_Silent_p.G117G|SH3YL1_ENST00000403657.1_Silent_p.G21G|SH3YL1_ENST00000415006.2_Silent_p.G21G|SH3YL1_ENST00000403658.1_Silent_p.G21G|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000356150.5_Silent_p.G117G			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	117					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TCAGATTTCCGCCTTTTGCAA	0.418																																						uc002qvx.2		NaN																	0				ovary(1)	1						c.(349-351)GGC>GGG		SH3 domain containing, Ysc84-like 1 isoform 1							123.0	122.0	123.0					2																	234213		1846	4088	5934	SO:0001819	synonymous_variant	26751							g.chr2:234213G>C		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.351C>G	2.37:g.234213G>C						SH3YL1_uc002qvy.2_Silent_p.G117G|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Silent_p.G21G|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Silent_p.G21G|SH3YL1_uc002qvw.2_RNA	p.G117G	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	5	435	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)	117					A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Silent	SNP	ENST00000405430.1	37	c.351C>G																																																																																					0.418	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1		NM_015677		15	118	0	0	0	0.007413	0	15	118		
KLF11	8462	broad.mit.edu	37	2	10186443	10186443	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:10186443G>T	ENST00000305883.1	+	2	371	c.209G>T	c.(208-210)aGa>aTa	p.R70I	KLF11_ENST00000535335.1_Missense_Mutation_p.R53I|KLF11_ENST00000540845.1_Missense_Mutation_p.R53I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	70					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCGGATAAGACCCCTCACG	0.512																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1		NaN																	0				ovary(2)	2						c.(208-210)AGA>ATA		Kruppel-like factor 11							108.0	101.0	104.0					2																	10186443		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10186443G>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.209G>T	2.37:g.10186443G>T	ENSP00000307023:p.Arg70Ile					KLF11_uc010yjc.1_Missense_Mutation_p.R53I	p.R70I	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	2	371	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		70					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.209G>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923074	0.73213	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.81330	-1.36;0.31;-1.48;0.38;-1.31;0.38	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.91510	0.5226	10	0.87932	D	0	.	19.1652	0.93553	0.0:0.0:1.0:0.0	.	70	O14901	KLF11_HUMAN	I	53;70;53;53;53;53	ENSP00000386058:R53I;ENSP00000307023:R70I;ENSP00000387866:R53I;ENSP00000444690:R53I;ENSP00000388263:R53I;ENSP00000442722:R53I	ENSP00000307023:R70I	R	+	2	0	KLF11	10103894	1.000000	0.71417	0.604000	0.28916	0.205000	0.24178	7.560000	0.82277	2.520000	0.84964	0.462000	0.41574	AGA		0.512	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3		NM_003597		10	45	1	0	7.03913e-09	0.013537	7.96882e-09	10	45		
FAM49A	81553	broad.mit.edu	37	2	16747025	16747025	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:16747025A>G	ENST00000381323.3	-	4	301	c.81T>C	c.(79-81)ccT>ccC	p.P27P	FAM49A_ENST00000406434.1_Silent_p.P27P|FAM49A_ENST00000355549.2_Silent_p.P27P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	27						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCCTTCTGTAGGCTGAGCAT	0.498																																						uc010exm.1		NaN																	0					0						c.(79-81)CCT>CCC		family with sequence similarity 49, member A							68.0	63.0	65.0					2																	16747025		2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16747025A>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.81T>C	2.37:g.16747025A>G						FAM49A_uc002rck.1_Silent_p.P27P	p.P27P	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		3	229	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		27					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.81T>C	CCDS1688.1																																																																																				0.498	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2		NM_030797		3	29	0	0	0	0.004672	0	3	29		
C2orf16	84226	broad.mit.edu	37	2	27800283	27800283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:27800283G>A	ENST00000408964.2	+	1	895	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	282						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTTGACCGCTGAGGCAAGGAT	0.463																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(844-846)GAG>AAG		hypothetical protein LOC84226							78.0	77.0	77.0					2																	27800283		1921	4134	6055	SO:0001583	missense	84226							g.chr2:27800283G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.844G>A	2.37:g.27800283G>A	ENSP00000386190:p.Glu282Lys						p.E282K	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	895	+	Acute lymphoblastic leukemia(172;0.155)		282					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.844G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	7.399	0.632279	0.14322	.	.	ENSG00000221843	ENST00000408964	T	0.04706	3.57	4.32	0.889	0.19212	.	.	.	.	.	T	0.02230	0.0069	N	0.03608	-0.345	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.47446	-0.9117	9	0.33141	T	0.24	.	6.3371	0.21302	0.3816:0.0:0.6184:0.0	.	282	Q68DN1	CB016_HUMAN	K	282	ENSP00000386190:E282K	ENSP00000386190:E282K	E	+	1	0	C2orf16	27653787	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.030000	0.12308	-0.049000	0.13379	0.467000	0.42956	GAG		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		26	54	0	0	0	0.021523	0	26	54		
VIT	5212	broad.mit.edu	37	2	37035743	37035743	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:37035743G>C	ENST00000389975.3	+	14	1775	c.1473G>C	c.(1471-1473)ttG>ttC	p.L491F	VIT_ENST00000401530.1_Missense_Mutation_p.L470F|VIT_ENST00000404084.1_Missense_Mutation_p.L443F|VIT_ENST00000379242.3_Missense_Mutation_p.L506F|VIT_ENST00000497382.1_Missense_Mutation_p.L160F|VIT_ENST00000379241.3_Missense_Mutation_p.L469F	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	491					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACCTGCTTGAACTCGGCTG	0.612																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1516-1518)TTG>TTC		vitrin							67.0	63.0	65.0					2																	37035743		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035743G>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1473G>C	2.37:g.37035743G>C	ENSP00000374625:p.Leu491Phe					VIT_uc002rpm.2_Missense_Mutation_p.L484F|VIT_uc010ezv.2_Missense_Mutation_p.L462F|VIT_uc010ezw.2_Missense_Mutation_p.L463F	p.L506F	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			15	1739	+		all_hematologic(82;0.248)	491					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1518G>C	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649157	0.14516	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.26	-10.5	0.00291	.	0.379656	0.25744	N	0.028596	T	0.51787	0.1695	L	0.37561	1.115	0.35595	D	0.807407	B;B;B;B	0.17852	0.006;0.01;0.024;0.018	B;B;B;B	0.17722	0.008;0.011;0.016;0.019	T	0.44620	-0.9316	10	0.10636	T	0.68	2.1285	5.8189	0.18516	0.4698:0.2544:0.2153:0.0605	.	470;469;491;506	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	F	506;491;160;443;469;470	ENSP00000368544:L506F;ENSP00000374625:L491F;ENSP00000417874:L160F;ENSP00000384154:L443F;ENSP00000368543:L469F;ENSP00000385658:L470F	ENSP00000368543:L469F	L	+	3	2	VIT	36889247	0.003000	0.15002	0.564000	0.28396	0.631000	0.37964	-0.975000	0.03790	-1.204000	0.02648	0.555000	0.69702	TTG		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					20	136	0	0	0	0.021523	0	20	136		
SPTBN1	6711	broad.mit.edu	37	2	54883083	54883084	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:54883083_54883084GA>TT	ENST00000356805.4	+	29	6275_6276	c.5994_5995GA>TT	c.(5992-5997)aaGAgg>aaTTgg	p.1998_1999KR>NW	SPTBN1_ENST00000333896.5_Missense_Mutation_p.1985_1986KR>NW	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1998	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGACGGAAAAGAGGAAAGAAAT	0.411																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5992-5997)AAGAGG>AATTGG		spectrin, beta, non-erythrocytic 1 isoform 1																																				SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54883083_54883084GA>TT		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	Exception_encountered	2.37:g.54883083_54883084delinsTT	ENSP00000349259:p.K1998_R1999delinsNW					SPTBN1_uc002rxx.2_Missense_Mutation_p.1985_1986KR>NW|SPTBN1_uc002rxy.2_Missense_Mutation_p.143_144KR>NW|SPTBN1_uc010you.1_5'Flank	p.1998_1999KR>NW	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		29	6243_6244	+			1998_1999			Spectrin 17.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	DNP	ENST00000356805.4	37	c.5994_5995GA>TT	CCDS33198.1																																																																																				0.411	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				5	38	0	0	0	0.004672	0	5	38		
ZAP70	7535	broad.mit.edu	37	2	98340715	98340715	+	Silent	SNP	C	C	T	rs199499629		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:98340715C>T	ENST00000264972.5	+	3	431	c.216C>T	c.(214-216)gcC>gcT	p.A72A	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGCCATTGCCGGCGGCAAAG	0.677																																						uc002syd.1		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(214-216)GCC>GCT		zeta-chain associated protein kinase 70kDa							17.0	16.0	16.0					2																	98340715		2197	4292	6489	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340715C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.216C>T	2.37:g.98340715C>T						ZAP70_uc010yvf.1_Silent_p.A72A|ZAP70_uc002sye.1_5'Flank	p.A72A	NM_001079	NP_001070	P43403	ZAP70_HUMAN			3	423	+			72			SH2 1.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.216C>T	CCDS33254.1																																																																																				0.677	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1				3	34	0	0	0	0.004672	0	3	34		
EIF5B	9669	broad.mit.edu	37	2	99993068	99993068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:99993068G>C	ENST00000289371.6	+	10	2013	c.1811G>C	c.(1810-1812)aGg>aCg	p.R604T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	604					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGAAGAAAGGGCTTATGAC	0.373																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1810-1812)AGG>ACG		eukaryotic translation initiation factor 5B							187.0	182.0	184.0					2																	99993068		1873	4102	5975	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99993068G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1811G>C	2.37:g.99993068G>C	ENSP00000289371:p.Arg604Thr						p.R604T	NM_015904	NP_056988	O60841	IF2P_HUMAN			10	1995	+			604					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1811G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848416	0.51164	.	.	ENSG00000158417	ENST00000289371	T	0.48201	0.82	5.96	5.09	0.68999	.	.	.	.	.	T	0.44829	0.1312	M	0.64997	1.995	0.48696	D	0.99969	P	0.44478	0.836	B	0.41036	0.346	T	0.42396	-0.9454	8	.	.	.	-13.3205	9.8468	0.41032	0.0692:0.0:0.7919:0.1389	.	604	O60841	IF2P_HUMAN	T	604	ENSP00000289371:R604T	.	R	+	2	0	EIF5B	99359500	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	4.206000	0.58473	1.535000	0.49220	0.655000	0.94253	AGG		0.373	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		10	41	0	0	0	0.016723	0	10	41		
MERTK	10461	broad.mit.edu	37	2	112779916	112779916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:112779916G>A	ENST00000295408.4	+	18	2688	c.2431G>A	c.(2431-2433)Gac>Aac	p.D811N	MERTK_ENST00000409780.1_Missense_Mutation_p.D635N|MERTK_ENST00000421804.2_Missense_Mutation_p.D811N			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAGATGTATGACTATCTTCT	0.537																																						uc002thk.1		NaN																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2431-2433)GAC>AAC		MER receptor tyrosine kinase precursor							161.0	127.0	139.0					2																	112779916		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779916G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2431G>A	2.37:g.112779916G>A	ENSP00000295408:p.Asp811Asn					MERTK_uc002thl.1_Missense_Mutation_p.D635N	p.D811N	NM_006343	NP_006334	Q12866	MERTK_HUMAN			18	2553	+			811			Protein kinase.|Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2431G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753441	0.69648	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35262	U	0.003333	D	0.85754	0.5770	L	0.31065	0.9	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.82045	-0.0652	10	0.21014	T	0.42	-26.1332	19.598	0.95548	0.0:0.0:1.0:0.0	.	811	Q12866	MERTK_HUMAN	N	811;811;447;635;135	ENSP00000295408:D811N;ENSP00000389152:D811N;ENSP00000387277:D635N;ENSP00000412660:D135N	ENSP00000295408:D811N	D	+	1	0	MERTK	112496387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.711000	0.92665	0.655000	0.94253	GAC		0.537	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				17	47	0	0	0	0.00499	0	17	47		
CBWD2	150472	broad.mit.edu	37	2	114195539	114195539	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:114195539G>C	ENST00000259199.4	+	1	272	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CBWD2_ENST00000416503.2_Missense_Mutation_p.E32Q|RP11-480C16.1_ENST00000608834.1_lincRNA|CBWD2_ENST00000433343.2_5'UTR	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	32	Poly-Glu.						ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						GCAAAGCGAGGAGGAGGAAAA	0.547																																						uc002tju.2		NaN																	0					0						c.(94-96)GAG>CAG		COBW domain-containing protein 2							134.0	132.0	133.0					2																	114195539		2202	4295	6497	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114195539G>C	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.94G>C	2.37:g.114195539G>C	ENSP00000259199:p.Glu32Gln					CBWD2_uc002tjt.2_Missense_Mutation_p.E32Q|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	p.E32Q	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN			1	272	+			32			Poly-Glu.		Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.94G>C	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.402964	0.25291	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000448780;ENST00000416503	T;T	0.08546	3.08;3.09	2.77	0.778	0.18543	.	0.741159	0.12042	N	0.504983	T	0.05273	0.0140	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.35101	-0.9802	10	0.32370	T	0.25	-31.1172	4.8542	0.13552	0.1373:0.4349:0.4278:0.0	.	32	Q8IUF1	CBWD2_HUMAN	Q	32	ENSP00000259199:E32Q;ENSP00000411906:E32Q	ENSP00000259199:E32Q	E	+	1	0	CBWD2	113912009	0.519000	0.26242	0.956000	0.39512	0.868000	0.49771	0.563000	0.23547	0.043000	0.15746	0.398000	0.26397	GAG		0.547	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3		NM_172003		5	205	0	0	0	0.001168	0	5	205		
SP110	3431	broad.mit.edu	37	2	231081529	231081529	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:231081529T>C	ENST00000358662.4	-	2	192	c.114A>G	c.(112-114)ctA>ctG	p.L38L	SP110_ENST00000392048.3_Silent_p.L38L|SP110_ENST00000258382.5_Silent_p.L38L|SP110_ENST00000258381.6_Silent_p.L38L|SP110_ENST00000540870.1_Silent_p.L44L|SP110_ENST00000338556.3_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	38	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGGAGTTGTCTAGGAGGCCTT	0.483																																						uc002vqh.3		NaN																	0				ovary(2)|breast(2)	4						c.(112-114)CTA>CTG		SP110 nuclear body protein isoform a							148.0	145.0	146.0					2																	231081529		2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231081529T>C	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.114A>G	2.37:g.231081529T>C						SP110_uc002vqg.3_Silent_p.L38L|SP110_uc002vqi.3_Silent_p.L38L|SP110_uc010fxk.2_Silent_p.L38L	p.L38L	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	2	354	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	38			HSR.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.114A>G	CCDS2474.1																																																																																				0.483	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1		NM_080424		18	70	0	0	0	0.010504	0	18	70		
UGT1A9	54600	broad.mit.edu	37	2	234581244	234581244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234581244C>T	ENST00000354728.4	+	1	746	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R222C|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	222					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R222S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ATTATGCCACCGTTTTTTCAA	0.428																																						uc002vus.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(664-666)CGT>TGT		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						217.0	224.0	222.0					2																	234581244		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234581244C>T	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.664C>T	2.37:g.234581244C>T	ENSP00000346768:p.Arg222Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R222C	p.R222C	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	701	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	222					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.664C>T	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	8.806	0.934061	0.18206	.	.	ENSG00000241119	ENST00000354728	T	0.64438	-0.1	3.22	-6.43	0.01926	.	.	.	.	.	T	0.31575	0.0801	N	0.02315	-0.6	0.09310	N	1	P;P	0.35527	0.507;0.507	B;B	0.42995	0.404;0.404	T	0.34477	-0.9827	9	0.37606	T	0.19	.	1.2419	0.01964	0.3284:0.3175:0.1111:0.2429	.	222;222	Q5DSZ5;O60656	.;UD19_HUMAN	C	222	ENSP00000346768:R222C	ENSP00000346768:R222C	R	+	1	0	UGT1A9	234245983	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.812000	0.00754	-1.460000	0.01911	-0.760000	0.03462	CGT		0.428	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1		NM_021027		52	132	0	0	0	0.01441	0	52	132		
UGT1A6	54578	broad.mit.edu	37	2	234602440	234602440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234602440C>T	ENST00000305139.6	+	1	929	c.790C>T	c.(790-792)Cct>Tct	p.P264S	UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_5'UTR|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	264					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GCTTGAATATCCTAGGCCGGT	0.433																																						uc002vuv.3		NaN																	0					0						c.(790-792)CCT>TCT		UDP glycosyltransferase 1 family, polypeptide A6							348.0	361.0	357.0					2																	234602440		2203	4300	6503	SO:0001583	missense	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602440C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.790C>T	2.37:g.234602440C>T	ENSP00000303174:p.Pro264Ser					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.P264S	p.P264S	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	929	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	264					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.790C>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317636	0.60524	.	.	ENSG00000167165	ENST00000305139	T	0.80824	-1.42	5.11	5.11	0.69529	.	.	.	.	.	D	0.90321	0.6972	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.78314	0.991;0.913	D	0.91515	0.5230	9	0.72032	D	0.01	.	14.3521	0.66711	0.0:0.8522:0.1478:0.0	.	264;264	B8K289;P19224	.;UD16_HUMAN	S	264	ENSP00000303174:P264S	ENSP00000303174:P264S	P	+	1	0	UGT1A6	234267179	0.999000	0.42202	0.934000	0.37439	0.289000	0.27227	4.632000	0.61311	2.648000	0.89879	0.655000	0.94253	CCT		0.433	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1		NM_205862		87	256	0	0	0	0.01441	0	87	256		
HJURP	55355	broad.mit.edu	37	2	234761219	234761219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234761219C>T	ENST00000411486.2	-	3	297	c.232G>A	c.(232-234)Gag>Aag	p.E78K	HJURP_ENST00000441687.1_Missense_Mutation_p.E78K|HJURP_ENST00000432087.1_Missense_Mutation_p.E78K	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	78					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTGGATCTCTCCTTCGTTT	0.378																																						uc002vvg.2		NaN																	0				ovary(1)	1						c.(232-234)GAG>AAG		Holliday junction recognition protein							162.0	132.0	142.0					2																	234761219		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234761219C>T		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.232G>A	2.37:g.234761219C>T	ENSP00000414109:p.Glu78Lys					HJURP_uc010znd.1_Missense_Mutation_p.E71K|HJURP_uc010zne.1_Missense_Mutation_p.E71K	p.E78K	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	3	298	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	78					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.232G>A	CCDS33406.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.349852|1.349852	0.24426|0.24426	.|.	.|.	ENSG00000123485|ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020	T;T;T;T|T	0.09630|0.32515	3.36;3.3;3.28;2.96|1.45	3.55|3.55	0.606|0.606	0.17559|0.17559	.|.	1.599050|.	0.03670|.	N|.	0.243770|.	T|T	0.26521|0.26521	0.0648|0.0648	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25441|.	0.126;0.103;0.077|.	B;B;B|.	0.18871|.	0.023;0.023;0.017|.	T|T	0.24512|0.24512	-1.0158|-1.0158	10|6	0.02654|.	T|.	1|.	-0.1705|-0.1705	5.9526|5.9526	0.19255|0.19255	0.1132:0.3975:0.4893:0.0|0.1132:0.3975:0.4893:0.0	.|.	78;78;78|.	Q8NCD3-3;Q8NCD3-2;Q8NCD3|.	.;.;HJURP_HUMAN|.	K|K	78|69	ENSP00000414109:E78K;ENSP00000407208:E78K;ENSP00000401944:E78K;ENSP00000393253:E78K|ENSP00000414051:R69K	ENSP00000414109:E78K|.	E|R	-|-	1|2	0|0	HJURP|HJURP	234425958|234425958	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.389000|0.389000	0.30415|0.30415	0.618000|0.618000	0.24373|0.24373	0.109000|0.109000	0.17891|0.17891	-0.165000|-0.165000	0.13383|0.13383	GAG|AGA		0.378	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410		5	15	0	0	0	0.014758	0	5	15		
ZCCHC3	85364	broad.mit.edu	37	20	278815	278815	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:278815G>C	ENST00000382352.3	+	1	1079	c.588G>C	c.(586-588)atG>atC	p.M196I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	196							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCATCGGCATGGACCCGAGCG	0.647																																						uc002wdf.2		NaN																	0					0						c.(583-585)ATG>ATC		zinc finger, CCHC domain containing 3							24.0	26.0	25.0					20																	278815		1945	4117	6062	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:278815G>C	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.588G>C	20.37:g.278815G>C	ENSP00000371789:p.Met196Ile					ZCCHC3_uc002wdg.2_Intron	p.M195I	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	609	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	196					Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.585G>C	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935890	0.52972	.	.	ENSG00000177764	ENST00000382352	.	.	.	4.97	4.97	0.65823	.	0.268520	0.29307	N	0.012538	T	0.34106	0.0886	N	0.19112	0.55	0.35997	D	0.837105	P	0.42827	0.791	B	0.40982	0.345	T	0.47649	-0.9101	9	0.56958	D	0.05	-24.7036	11.4374	0.50076	0.0:0.1819:0.8181:0.0	.	196	Q9NUD5	ZCHC3_HUMAN	I	196	.	ENSP00000371789:M196I	M	+	3	0	ZCCHC3	226815	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.591000	0.67536	2.582000	0.87167	0.455000	0.32223	ATG		0.647	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1				7	43	0	0	0	0.004482	0	7	43		
MAVS	57506	broad.mit.edu	37	20	3846784	3846784	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:3846784G>A	ENST00000428216.2	+	7	1741	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H	MAVS_ENST00000416600.2_Missense_Mutation_p.R397H|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	538					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TACCGGCGGCGTCTGCACTAG	0.637																																						uc002wjw.3		NaN																	0					0						c.(1612-1614)CGT>CAT		virus-induced signaling adapter							25.0	22.0	23.0					20																	3846784		2180	4252	6432	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3846784G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1613G>A	20.37:g.3846784G>A	ENSP00000401980:p.Arg538His					MAVS_uc002wjx.3_Missense_Mutation_p.R397H|MAVS_uc002wjy.3_Missense_Mutation_p.R236H	p.R538H	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			7	1782	+			538			Mitochondrial intermembrane (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.1613G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596143	0.46318	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.51574	0.7;1.76	4.57	1.54	0.23209	.	0.218384	0.30020	N	0.010620	T	0.35480	0.0933	L	0.50333	1.59	0.31149	N	0.705689	P	0.49961	0.93	B	0.39027	0.288	T	0.46555	-0.9183	10	0.87932	D	0	-17.8838	6.6939	0.23187	0.2952:0.0:0.7048:0.0	.	538	Q7Z434	MAVS_HUMAN	H	397;538	ENSP00000413749:R397H;ENSP00000401980:R538H	ENSP00000413749:R397H	R	+	2	0	MAVS	3794784	0.949000	0.32298	0.985000	0.45067	0.118000	0.20060	0.723000	0.25939	0.408000	0.25621	0.655000	0.94253	CGT		0.637	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		9	48	0	0	0	0.013537	0	9	48		
SPTLC3	55304	broad.mit.edu	37	20	13074186	13074186	+	Missense_Mutation	SNP	G	G	T	rs372930777		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:13074186G>T	ENST00000399002.2	+	6	1062	c.788G>T	c.(787-789)cGa>cTa	p.R263L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R263L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	263					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CTTGGGGCCCGACTCTCAGGT	0.398																																						uc002wod.1		NaN																	0					0						c.(787-789)CGA>CTA		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						97.0	101.0	100.0					20																	13074186		2080	4253	6333	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13074186G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.788G>T	20.37:g.13074186G>T	ENSP00000381968:p.Arg263Leu						p.R263L	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			6	1077	+			263					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.788G>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978534	0.92982	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.91894	-2.93;-2.93	5.19	5.19	0.71726	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96854	0.9627	10	0.72032	D	0.01	-10.9649	17.8507	0.88746	0.0:0.0:1.0:0.0	.	263	Q9NUV7	SPTC3_HUMAN	L	263	ENSP00000381968:R263L;ENSP00000367436:R263L	ENSP00000367436:R263L	R	+	2	0	SPTLC3	13022186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.103000	0.94232	2.582000	0.87167	0.655000	0.94253	CGA		0.398	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1		NM_018327		6	77	1	0	1.26484e-09	0.00308	1.4483e-09	6	77		
E2F1	1869	broad.mit.edu	37	20	32264765	32264765	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:32264765C>G	ENST00000343380.5	-	7	1226	c.1087G>C	c.(1087-1089)Ggc>Cgc	p.G363R	NECAB3_ENST00000246190.6_5'Flank|NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	363	Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCAGGCTGCCCATCCGGGAC	0.726																																						uc002wzu.3		NaN																	0					0						c.(1087-1089)GGC>CGC		E2F transcription factor 1							11.0	13.0	12.0					20																	32264765		2158	4261	6419	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32264765C>G		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1087G>C	20.37:g.32264765C>G	ENSP00000345571:p.Gly363Arg					NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	p.G363R	NM_005225	NP_005216	Q01094	E2F1_HUMAN			7	1227	-			363			Required for interaction with TRIM28.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.1087G>C	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608330	0.28623	.	.	ENSG00000101412	ENST00000343380	T	0.39787	1.06	4.64	2.56	0.30785	.	0.499792	0.20018	N	0.100971	T	0.26810	0.0656	L	0.48642	1.525	0.28538	N	0.912268	P	0.34462	0.454	B	0.29663	0.105	T	0.08027	-1.0742	10	0.18276	T	0.48	-8.6067	4.6481	0.12582	0.0:0.5928:0.0:0.4072	.	363	Q01094	E2F1_HUMAN	R	363	ENSP00000345571:G363R	ENSP00000345571:G363R	G	-	1	0	E2F1	31728426	0.028000	0.19301	0.986000	0.45419	0.900000	0.52787	1.621000	0.36986	1.183000	0.42943	0.462000	0.41574	GGC		0.726	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2				5	18	0	0	0	0.00308	0	5	18		
DLGAP4	22839	broad.mit.edu	37	20	35068239	35068239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35068239G>A	ENST00000373907.2	+	4	1523	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	DLGAP4_ENST00000401952.2_Missense_Mutation_p.D442N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D442N|DLGAP4_ENST00000373913.3_Missense_Mutation_p.D442N			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	442					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCGTCAGCGACAGCCTCAA	0.632											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xff.2		NaN																	0				skin(2)|ovary(1)	3						c.(1324-1326)GAC>AAC		disks large-associated protein 4 isoform a							74.0	58.0	64.0					20																	35068239		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35068239G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1324G>A	20.37:g.35068239G>A	ENSP00000363014:p.Asp442Asn		OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	852	DLGAP4_uc010zvp.1_Missense_Mutation_p.D442N	p.D442N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			5	1759	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	442					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.1324G>A		.	.	.	.	.	.	.	.	.	.	G	14.58	2.577419	0.45902	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18174	2.23;2.23;2.74;2.74	4.9	3.72	0.42706	.	0.526303	0.22485	N	0.059448	T	0.14270	0.0345	L	0.36672	1.1	0.37238	D	0.906007	B	0.18741	0.03	B	0.09377	0.004	T	0.08432	-1.0722	10	0.38643	T	0.18	.	13.1767	0.59630	0.0925:0.0:0.9075:0.0	.	442	Q9Y2H0-1	.	N	442	ENSP00000363023:D442N;ENSP00000384954:D442N;ENSP00000363014:D442N;ENSP00000341633:D442N	ENSP00000341633:D442N	D	+	1	0	DLGAP4	34501653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.759000	0.62227	2.276000	0.75962	0.555000	0.69702	GAC		0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2		NM_014902		14	53	0	0	0	0.004007	0	14	53		
DSN1	79980	broad.mit.edu	37	20	35383166	35383166	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35383166C>G	ENST00000426836.1	-	10	1333	c.961G>C	c.(961-963)Gga>Cga	p.G321R	DSN1_ENST00000373734.4_Splice_Site_p.G214R|DSN1_ENST00000373750.4_Splice_Site_p.G321R|DSN1_ENST00000373745.3_Splice_Site_p.G321R|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Splice_Site_p.G249R|DSN1_ENST00000448110.2_Splice_Site_p.G305R	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	321					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACAAGCTTACCGAGCTGTACT	0.473																																						uc010gfr.2		NaN																	0				ovary(2)	2						c.(961-963)GGA>CGA		DSN1, MIND kinetochore complex component,							94.0	74.0	81.0					20																	35383166		2203	4300	6503	SO:0001630	splice_region_variant	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35383166C>G	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.961+1G>C	20.37:g.35383166C>G						DSN1_uc002xfz.2_Missense_Mutation_p.G321R|DSN1_uc002xfy.3_Missense_Mutation_p.G111R|DSN1_uc002xga.2_Missense_Mutation_p.G321R|DSN1_uc010zvs.1_Missense_Mutation_p.G214R|DSN1_uc002xgc.2_Missense_Mutation_p.G305R|DSN1_uc002xgb.2_Missense_Mutation_p.G305R	p.G321R	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			10	1334	-		Myeloproliferative disorder(115;0.00874)	321					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.961G>C	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653057	0.47362	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734	.	.	.	5.25	2.17	0.27698	.	0.542838	0.19198	N	0.120253	T	0.27967	0.0689	L	0.29908	0.895	0.26587	N	0.973268	P;P	0.42785	0.79;0.518	P;B	0.46543	0.52;0.301	T	0.07539	-1.0767	8	.	.	.	-18.8238	5.1131	0.14819	0.0:0.6362:0.1716:0.1923	.	214;321	Q5JW55;Q9H410	.;DSN1_HUMAN	R	321;321;305;254;321;249;214	.	.	G	-	1	0	DSN1	34816580	0.983000	0.35010	0.853000	0.33588	0.906000	0.53458	1.832000	0.39151	0.277000	0.22141	0.561000	0.74099	GGA		0.473	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2		NM_024918	Missense_Mutation	5	35	0	0	0	0.014758	0	5	35		
RPN2	6185	broad.mit.edu	37	20	35865107	35865107	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35865107C>G	ENST00000237530.6	+	16	2189	c.1878C>G	c.(1876-1878)gtC>gtG	p.V626V	RPN2_ENST00000373622.5_Silent_p.V594V|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	626					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGCAGGCAGTCAAGAGGTAAG	0.532																																						uc002xgp.2		NaN																	0				ovary(2)|skin(1)	3						c.(1876-1878)GTC>GTG		ribophorin II isoform 1 precursor							83.0	72.0	76.0					20																	35865107		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35865107C>G	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1878C>G	20.37:g.35865107C>G						RPN2_uc002xgq.2_Silent_p.V594V	p.V626V	NM_002951	NP_002942	P04844	RPN2_HUMAN			16	2182	+		Myeloproliferative disorder(115;0.00878)	626			Cytoplasmic (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.1878C>G	CCDS13291.1																																																																																				0.532	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2		NM_002951		12	85	0	0	0	0.020292	0	12	85		
VSTM2L	128434	broad.mit.edu	37	20	36572409	36572409	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:36572409C>T	ENST00000373461.4	+	4	616	c.369C>T	c.(367-369)atC>atT	p.I123I	VSTM2L_ENST00000373458.3_Silent_p.I106I|VSTM2L_ENST00000373459.4_Missense_Mutation_p.L50F	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	123	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCAGCAACATCTCCCACAAGC	0.652																																						uc002xhk.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(367-369)ATC>ATT		V-set and transmembrane domain containing 2 like							56.0	37.0	43.0					20																	36572409		2203	4300	6503	SO:0001819	synonymous_variant	128434							g.chr20:36572409C>T	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.369C>T	20.37:g.36572409C>T							p.I123I	NM_080607	NP_542174	Q96N03	VTM2L_HUMAN			4	623	+		Myeloproliferative disorder(115;0.00878)	123			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Silent	SNP	ENST00000373461.4	37	c.369C>T	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852619	0.51270	.	.	ENSG00000132821	ENST00000373459	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.77505	0.4140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79626	-0.1725	5	0.66056	D	0.02	-17.987	18.2505	0.90000	0.0:1.0:0.0:0.0	.	.	.	.	F	50	.	ENSP00000362558:L50F	L	+	1	0	VSTM2L	36005823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.962000	0.70364	2.550000	0.86006	0.462000	0.41574	CTC		0.652	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1				5	42	0	0	0	0.001984	0	5	42		
ZNFX1	57169	broad.mit.edu	37	20	47866170	47866170	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:47866170G>T	ENST00000396105.1	-	14	3637	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	ZNFX1_ENST00000371752.1_Missense_Mutation_p.Q1131K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1131							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCTCATGCTGGTTCTGATGG	0.493																																						uc002xui.2		NaN																	0				ovary(2)	2						c.(3391-3393)CAG>AAG		zinc finger, NFX1-type containing 1							107.0	108.0	108.0					20																	47866170		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47866170G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3391C>A	20.37:g.47866170G>T	ENSP00000379412:p.Gln1131Lys						p.Q1131K	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3638	-			1131					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3391C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255644	0.01457	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.92048	-2.96;-2.96	5.41	5.41	0.78517	.	0.441181	0.23429	N	0.048269	T	0.78916	0.4359	N	0.04043	-0.29	0.29772	N	0.834666	B	0.23249	0.082	B	0.18263	0.021	T	0.66097	-0.6008	10	0.06365	T	0.9	-21.0847	11.5078	0.50476	0.0:0.0:0.7312:0.2687	.	1131	Q9P2E3	ZNFX1_HUMAN	K	1131	ENSP00000360817:Q1131K;ENSP00000379412:Q1131K	ENSP00000360817:Q1131K	Q	-	1	0	ZNFX1	47299577	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.883000	0.48554	2.814000	0.96858	0.591000	0.81541	CAG		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		4	125	1	0	2.56e-06	0.009096	2.81319e-06	4	125		
PHACTR3	116154	broad.mit.edu	37	20	58322813	58322813	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:58322813C>T	ENST00000371015.1	+	3	748	c.281C>T	c.(280-282)gCg>gTg	p.A94V	PHACTR3_ENST00000541461.1_Splice_Site_p.A53V|PHACTR3_ENST00000355648.4_Splice_Site_p.A53V|PHACTR3_ENST00000395639.4_Splice_Site_p.A53V|PHACTR3_ENST00000395636.2_Splice_Site_p.A53V|PHACTR3_ENST00000361300.4_Splice_Site_p.A53V|PHACTR3_ENST00000359926.3_Splice_Site_p.A91V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	94						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGTTGGGCAGCGCTGGAGAAG	0.577																																						uc002yau.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(280-282)GCG>GTG		phosphatase and actin regulator 3 isoform 1							130.0	121.0	124.0					20																	58322813		2203	4300	6503	SO:0001630	splice_region_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58322813C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.281-1C>T	20.37:g.58322813C>T						PHACTR3_uc002yat.2_Missense_Mutation_p.A91V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A53V|PHACTR3_uc002yav.2_Missense_Mutation_p.A53V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A53V|PHACTR3_uc002yax.2_Missense_Mutation_p.A53V	p.A94V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		3	748	+	all_lung(29;0.00344)		94			RPEL 1.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.281C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674739	0.29783	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.30981	2.02;2.0;1.51;2.01;2.01;2.01;1.51	4.26	1.83	0.25207	.	0.314313	0.29995	N	0.010667	T	0.14056	0.0340	N	0.16201	0.385	0.42253	D	0.991984	B;B;B	0.18610	0.003;0.029;0.029	B;B;B	0.11329	0.005;0.006;0.006	T	0.08659	-1.0711	9	.	.	.	.	6.3155	0.21188	0.0:0.6511:0.0:0.3489	.	53;94;91	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	V	91;94;53;53;53;53;53	ENSP00000353002:A91V;ENSP00000360054:A94V;ENSP00000379001:A53V;ENSP00000442483:A53V;ENSP00000347866:A53V;ENSP00000378998:A53V;ENSP00000354555:A53V	.	A	+	2	0	PHACTR3	57756208	0.679000	0.27596	0.575000	0.28536	0.033000	0.12548	1.145000	0.31577	0.908000	0.36671	-0.222000	0.12452	GCG		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3		NM_080672	Missense_Mutation	30	119	0	0	0	0.010818	0	30	119		
DIDO1	11083	broad.mit.edu	37	20	61513532	61513532	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:61513532C>A	ENST00000266070.4	-	16	4101	c.3776G>T	c.(3775-3777)gGg>gTg	p.G1259V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1259V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1259	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCGGCGACCCAGGAGGTGT	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(3775-3777)GGG>GTG		death inducer-obliterator 1 isoform c							75.0	88.0	83.0					20																	61513532		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513532C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3776G>T	20.37:g.61513532C>A	ENSP00000266070:p.Gly1259Val					DIDO1_uc002yds.1_Missense_Mutation_p.G1259V	p.G1259V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4040	-	Breast(26;5.68e-08)		1259			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3776G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973521	0.53720	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.13657	2.57;2.57	5.74	2.68	0.31781	.	0.215154	0.23202	N	0.050777	T	0.27384	0.0672	M	0.80616	2.505	0.53688	D	0.999978	D	0.55605	0.972	P	0.51415	0.669	T	0.05115	-1.0905	10	0.66056	D	0.02	-17.9061	11.1095	0.48223	0.0:0.6729:0.2608:0.0664	.	1259	Q9BTC0	DIDO1_HUMAN	V	1259	ENSP00000266070:G1259V;ENSP00000378752:G1259V	ENSP00000266070:G1259V	G	-	2	0	DIDO1	60983977	0.098000	0.21812	0.001000	0.08648	0.023000	0.10783	2.467000	0.45093	0.408000	0.25621	0.563000	0.77884	GGG		0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		66	262	1	0	3.13743e-37	0.01441	3.74992e-37	66	262		
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T	rs201791168		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		15364	0.001		0.0	False		,,,				2504	0.0					uc011acx.1		NaN																	0					0						c.(235-237)TCG>TCA		keratin associated protein 19-1							152.0	167.0	162.0					21																	31852400		2203	4300	6503	SO:0001819	synonymous_variant	337882					intermediate filament		g.chr21:31852400C>T	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.237G>A	21.37:g.31852400C>T							p.S79S	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			1	237	-			79			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Silent	SNP	ENST00000390689.2	37	c.237G>A	CCDS13594.1																																																																																				0.493	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2				30	258	0	0	0	0.017118	0	30	258		
DNAJC28	54943	broad.mit.edu	37	21	34861116	34861116	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:34861116C>A	ENST00000314399.3	-	2	1023	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DNAJC28_ENST00000381947.3_Missense_Mutation_p.K195N|DNAJC28_ENST00000402202.1_Missense_Mutation_p.K195N	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	195										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTGCGTTATCTTTTGCTGTT	0.373																																						uc002yrv.2		NaN																	0					0						c.(583-585)AAG>AAT		DnaJ (Hsp40) homolog, subfamily C, member 28							174.0	164.0	168.0					21																	34861116		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861116C>A	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.585G>T	21.37:g.34861116C>A	ENSP00000320303:p.Lys195Asn					DNAJC28_uc002yrw.2_Missense_Mutation_p.K195N	p.K195N	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	1034	-			195					D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.585G>T	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091859	0.55968	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.38	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.88241	2.94	0.44079	D	0.996837	D	0.89917	1.0	D	0.85130	0.997	T	0.79813	-0.1645	9	0.72032	D	0.01	-21.9827	9.4261	0.38581	0.0:0.6638:0.0:0.3362	.	195	Q9NX36	DJC28_HUMAN	N	195	.	ENSP00000320303:K195N	K	-	3	2	DNAJC28	33782986	0.997000	0.39634	1.000000	0.80357	0.900000	0.52787	0.446000	0.21694	0.640000	0.30582	0.655000	0.94253	AAG		0.373	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3				17	59	1	0	1.67942e-08	0.006122	1.88698e-08	17	59		
SETD4	54093	broad.mit.edu	37	21	37408469	37408469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:37408469C>G	ENST00000399215.1	-	10	2641	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.K399N|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Missense_Mutation_p.K423N			Q9NVD3	SETD4_HUMAN	SET domain containing 4	423				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCCTGAGAATCTTTAGCTCTT	0.443																																						uc002yuw.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1267-1269)AAG>AAC		SET domain containing 4 isoform a							141.0	142.0	141.0					21																	37408469		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37408469C>G	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1269G>C	21.37:g.37408469C>G	ENSP00000382163:p.Lys423Asn					SETD4_uc002yux.1_Missense_Mutation_p.K399N|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.K423N	p.K423N	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN			10	2642	-			423	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.1269G>C	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213305	0.22289	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.19938	2.11;2.11;2.11	5.57	5.57	0.84162	Rubisco LS methyltransferase, substrate-binding domain (1);	0.478303	0.25032	N	0.033674	T	0.18002	0.0432	L	0.38531	1.155	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.24155	0.011;0.051	T	0.04053	-1.0981	10	0.35671	T	0.21	-3.1451	10.4343	0.44426	0.135:0.7936:0.0:0.0715	.	399;423	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	N	423;399;423	ENSP00000382163:K423N;ENSP00000382161:K399N;ENSP00000329189:K423N	ENSP00000329189:K423N	K	-	3	2	SETD4	36330339	0.244000	0.23889	0.989000	0.46669	0.069000	0.16628	0.252000	0.18278	2.609000	0.88269	0.563000	0.77884	AAG		0.443	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1		NM_017438		38	132	0	0	0	0.01441	0	38	132		
UBASH3A	53347	broad.mit.edu	37	21	43854960	43854960	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:43854960A>T	ENST00000319294.6	+	10	1320	c.1289A>T	c.(1288-1290)gAc>gTc	p.D430V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.D392V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.D392V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	430	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TACAGGCCAGACCTGAATTTC	0.443																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(1288-1290)GAC>GTC		ubiquitin associated and SH3 domain containing,							87.0	87.0	87.0					21																	43854960		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43854960A>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1289A>T	21.37:g.43854960A>T	ENSP00000317327:p.Asp430Val					UBASH3A_uc002zbf.2_Missense_Mutation_p.D392V|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.D392V	p.D430V	NM_018961	NP_061834	P57075	UBS3A_HUMAN			10	1325	+			430			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1289A>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484782	0.63962	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.18016	2.29;2.29;2.24	4.83	4.83	0.62350	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.64402	D	0.000012	T	0.45915	0.1366	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.53380	-0.8447	10	0.87932	D	0	-51.2126	11.9655	0.53033	1.0:0.0:0.0:0.0	.	392;392;430	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	V	392;430;392	ENSP00000291535:D392V;ENSP00000317327:D430V;ENSP00000381408:D392V	ENSP00000291535:D392V	D	+	2	0	UBASH3A	42728029	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.245000	0.65405	1.817000	0.53016	0.533000	0.62120	GAC		0.443	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		14	39	0	0	0	0.00499	0	14	39		
KRTAP10-7	386675	broad.mit.edu	37	21	46021232	46021232	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:46021232C>G	ENST00000380102.2	+	1	736	c.711C>G	c.(709-711)gtC>gtG	p.V237V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	237	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGTGCCTGTCTGCTGCAAGC	0.652																																						uc002zfn.3		NaN																	0					0						c.(694-696)GTC>GTG		keratin associated protein 10-7							133.0	130.0	131.0					21																	46021232		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021232C>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.711C>G	21.37:g.46021232C>G						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V232V	NM_198689	NP_941962	P60409	KR107_HUMAN			2	721	+			237			30 X 5 AA repeats of C-C-X(3).|17.		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.696C>G																																																																																					0.652	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1		NM_198689		34	345	0	0	0	0.01441	0	34	345		
PCNT	5116	broad.mit.edu	37	21	47847581	47847581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:47847581G>A	ENST00000359568.5	+	34	7473	c.7366G>A	c.(7366-7368)Gtt>Att	p.V2456I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2456					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTCTGCAGGTTGTGCAAGA	0.582																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(7366-7368)GTT>ATT		pericentrin							81.0	82.0	82.0					21																	47847581		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47847581G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7366G>A	21.37:g.47847581G>A	ENSP00000352572:p.Val2456Ile					PCNT_uc002zjj.2_Missense_Mutation_p.V2338I	p.V2456I	NM_006031	NP_006022	O95613	PCNT_HUMAN			34	7473	+	Breast(49;0.112)		2456					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7366G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333160	0.41297	.	.	ENSG00000160299	ENST00000359568	T	0.01572	4.76	5.49	1.73	0.24493	.	1.025240	0.07861	N	0.966348	T	0.02494	0.0076	L	0.54323	1.7	0.09310	N	1	B;P	0.43788	0.018;0.817	B;B	0.38500	0.019;0.275	T	0.49986	-0.8880	10	0.30854	T	0.27	.	8.1139	0.30930	0.3179:0.0:0.6821:0.0	.	2338;2456	O95613-2;O95613	.;PCNT_HUMAN	I	2456	ENSP00000352572:V2456I	ENSP00000352572:V2456I	V	+	1	0	PCNT	46672009	0.816000	0.29132	0.000000	0.03702	0.013000	0.08279	2.184000	0.42575	0.043000	0.15746	-0.140000	0.14226	GTT		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		19	86	0	0	0	0.008871	0	19	86		
DGCR8	54487	broad.mit.edu	37	22	20074017	20074017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:20074017G>C	ENST00000351989.3	+	2	960	c.531G>C	c.(529-531)gaG>gaC	p.E177D	DGCR8_ENST00000383024.2_Missense_Mutation_p.E177D|DGCR8_ENST00000407755.1_Missense_Mutation_p.E177D|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	177	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TAGGGGGTGAGAGTGCTGATA	0.537																																						uc002zri.2		NaN																	0					0						c.(529-531)GAG>GAC		DiGeorge syndrome critical region gene 8							140.0	133.0	135.0					22																	20074017		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074017G>C	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.531G>C	22.37:g.20074017G>C	ENSP00000263209:p.Glu177Asp					DGCR8_uc010grz.2_Missense_Mutation_p.E177D|DGCR8_uc002zrj.2_5'Flank	p.E177D	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	881	+	Colorectal(54;0.0993)		177			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.531G>C	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115146	0.37339	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.44;1.42;1.42	5.42	3.19	0.36642	.	0.252113	0.47093	N	0.000254	T	0.16471	0.0396	N	0.24115	0.695	0.44547	D	0.997502	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	T	0.09640	-1.0665	10	0.36615	T	0.2	-17.3212	3.17	0.06549	0.2183:0.2692:0.5126:0.0	.	177;177	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	D	177	ENSP00000263209:E177D;ENSP00000372488:E177D;ENSP00000384726:E177D	ENSP00000263209:E177D	E	+	3	2	DGCR8	18454017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.815000	0.48018	1.488000	0.48433	0.491000	0.48974	GAG		0.537	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				68	471	0	0	0	0.01441	0	68	471		
TOM1	10043	broad.mit.edu	37	22	35719129	35719129	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:35719129C>A	ENST00000449058.2	+	4	450	c.325C>A	c.(325-327)Cca>Aca	p.P109T	TOM1_ENST00000382034.5_Missense_Mutation_p.P42T|TOM1_ENST00000425375.1_Missense_Mutation_p.P109T|TOM1_ENST00000411850.1_Missense_Mutation_p.P109T|TOM1_ENST00000436462.2_Missense_Mutation_p.P71T|TOM1_ENST00000447733.1_Missense_Mutation_p.P76T	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	109	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CAAGAACAACCCACCCACCAT	0.602																																						uc003ann.2		NaN																	0				ovary(1)	1						c.(325-327)CCA>ACA		target of myb1 isoform 1							138.0	84.0	102.0					22																	35719129		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35719129C>A	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.325C>A	22.37:g.35719129C>A	ENSP00000394466:p.Pro109Thr					TOM1_uc011ami.1_Missense_Mutation_p.P76T|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.P71T|TOM1_uc003anp.2_Missense_Mutation_p.P109T|TOM1_uc011aml.1_Missense_Mutation_p.P109T|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.P103T|TOM1_uc003anr.2_5'UTR	p.P109T	NM_005488	NP_005479	O60784	TOM1_HUMAN			4	450	+			109			VHS.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.325C>A	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815645	0.90790	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000450839;ENST00000451197;ENST00000436462;ENST00000382034;ENST00000443206	T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.97	4.97	0.65823	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.160924	0.56097	D	0.000027	T	0.41026	0.1141	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.973;0.996;1.0;0.999	T	0.07481	-1.0770	10	0.24483	T	0.36	-3.2112	18.2281	0.89924	0.0:1.0:0.0:0.0	.	109;71;118;109;109	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	T	76;103;109;109;109;109;118;71;42;76	ENSP00000398876:P76T;ENSP00000393714:P103T;ENSP00000394466:P109T;ENSP00000413697:P109T;ENSP00000394924:P109T;ENSP00000402556:P71T;ENSP00000371465:P42T;ENSP00000389789:P76T	ENSP00000371465:P42T	P	+	1	0	TOM1	34049129	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.705000	0.84606	2.291000	0.77112	0.655000	0.94253	CCA		0.602	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1		NM_005488		8	67	1	0	4.68919e-08	0.008291	5.24909e-08	8	67		
IL17RE	132014	broad.mit.edu	37	3	9956436	9956436	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:9956436C>G	ENST00000383814.3	+	15	1527	c.1422C>G	c.(1420-1422)gcC>gcG	p.A474A	IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RE_ENST00000295980.3_Silent_p.A474A|IL17RE_ENST00000454190.2_Missense_Mutation_p.P499A|IL17RC_ENST00000413608.1_5'Flank|IL17RE_ENST00000421412.1_Silent_p.A507A|IL17RC_ENST00000403601.3_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	474					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TTGTTCTGGCCCTCACCTGCC	0.627																																						uc003btu.2		NaN																	0				central_nervous_system(1)	1						c.(1420-1422)GCC>GCG		interleukin 17 receptor E isoform 1							87.0	90.0	89.0					3																	9956436		2203	4300	6503	SO:0001819	synonymous_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956436C>G	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1422C>G	3.37:g.9956436C>G						CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.A474A|IL17RE_uc003btx.2_Silent_p.A358A|IL17RE_uc010hcq.2_Missense_Mutation_p.P499A|IL17RE_uc003bty.2_RNA	p.A474A	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	16	1539	+			474			Helical; (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1422C>G	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931656	0.34096	.	.	ENSG00000163701	ENST00000454190	T	0.26957	1.7	4.6	-3.4	0.04853	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.32375	-0.9909	7	.	.	.	-4.8434	1.7487	0.02967	0.1467:0.2334:0.1441:0.4757	.	499	Q8NFR9-3	.	A	499	ENSP00000388086:P499A	.	P	+	1	0	IL17RE	9931436	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.475000	0.06599	-0.594000	0.05836	-0.339000	0.08088	CCT		0.627	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1		NM_153480		3	85	0	0	0	0.009096	0	3	85		
RFTN1	23180	broad.mit.edu	37	3	16450896	16450896	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:16450896C>G	ENST00000334133.4	-	4	699	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.E107Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	143					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTAATGAACTCTGGGATGAGT	0.473																																						uc003cay.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(427-429)GAG>CAG		raft-linking protein							141.0	132.0	135.0					3																	16450896		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16450896C>G	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.427G>C	3.37:g.16450896C>G	ENSP00000334153:p.Glu143Gln					RFTN1_uc010hes.2_Missense_Mutation_p.E107Q	p.E143Q	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			4	709	-			143					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.427G>C	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101272	0.37048	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.53	4.46	0.54185	.	0.313852	0.35838	N	0.002943	T	0.31327	0.0793	L	0.59436	1.845	0.28493	N	0.914398	P;P	0.34462	0.454;0.454	B;B	0.36959	0.183;0.237	T	0.31024	-0.9958	10	0.56958	D	0.05	-27.782	10.1381	0.42719	0.0:0.8945:0.0:0.1055	.	107;143	G3XAJ6;Q14699	.;RFTN1_HUMAN	Q	107;143;143;143;143	ENSP00000403926:E107Q;ENSP00000334153:E143Q;ENSP00000403997:E143Q;ENSP00000409427:E143Q;ENSP00000388718:E143Q	ENSP00000334153:E143Q	E	-	1	0	RFTN1	16425900	0.993000	0.37304	0.995000	0.50966	0.652000	0.38707	2.614000	0.46359	2.599000	0.87857	0.655000	0.94253	GAG		0.473	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1		NM_015150		10	57	0	0	0	0.016723	0	10	57		
ZNF385D	79750	broad.mit.edu	37	3	21552474	21552474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:21552474C>G	ENST00000281523.2	-	4	836	c.318G>C	c.(316-318)aaG>aaC	p.K106N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	106						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K106N(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTGAGCTTCTTGGCATGTT	0.458																																						uc003cce.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(316-318)AAG>AAC		zinc finger protein 385D							262.0	213.0	230.0					3																	21552474		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21552474C>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.318G>C	3.37:g.21552474C>G	ENSP00000281523:p.Lys106Asn					ZNF385D_uc010hfb.1_RNA	p.K106N	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			4	726	-			106			Matrin-type 1.			Missense_Mutation	SNP	ENST00000281523.2	37	c.318G>C	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700045	0.88924	.	.	ENSG00000151789	ENST00000281523	T	0.51071	0.72	5.52	5.52	0.82312	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	L	0.50333	1.59	0.58432	D	0.999998	D	0.71674	0.998	D	0.75484	0.986	T	0.60490	-0.7253	10	0.37606	T	0.19	-13.4062	19.4149	0.94690	0.0:1.0:0.0:0.0	.	106	Q9H6B1	Z385D_HUMAN	N	106	ENSP00000281523:K106N	ENSP00000281523:K106N	K	-	3	2	ZNF385D	21527478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.586000	0.87340	0.650000	0.86243	AAG		0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		10	37	0	0	0	0.013537	0	10	37		
XIRP1	165904	broad.mit.edu	37	3	39225689	39225689	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:39225689G>A	ENST00000340369.3	-	2	5476	c.5248C>T	c.(5248-5250)Ctg>Ttg	p.L1750L	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.L433L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1750	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTAGCTCCAGAACACTCTTT	0.562																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(5248-5250)CTG>TTG		xin actin-binding repeat containing 1							146.0	147.0	147.0					3																	39225689		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39225689G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5248C>T	3.37:g.39225689G>A						XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Silent_p.L433L	p.L1750L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5469	-			1750			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.5248C>T	CCDS2683.1																																																																																				0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		35	166	0	0	0	0.006999	0	35	166		
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:45800488G>A	ENST00000358525.4	-	11	1876	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.D550D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	587					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577																																						uc011bai.1		NaN																	0				ovary(2)	2						c.(1759-1761)GAC>GAT		solute carrier family 6, member 20 isoform 1							35.0	40.0	38.0					3																	45800488		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800488G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1761C>T	3.37:g.45800488G>A						SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D	p.D587D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1885	-			587			Cytoplasmic (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1761C>T	CCDS43077.1																																																																																				0.577	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3		NM_020208		4	53	0	0	0	0.009096	0	4	53		
ARL13B	200894	broad.mit.edu	37	3	93714777	93714777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:93714777G>T	ENST00000394222.3	+	2	394	c.119G>T	c.(118-120)gGa>gTa	p.G40V	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.G40V|ARL13B_ENST00000535334.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	40					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACAGCAAAGGGAATCCAAGGA	0.289																																						uc003drc.2		NaN																	0					0						c.(118-120)GGA>GTA		ADP-ribosylation factor-like 2-like 1 isoform 1							62.0	70.0	67.0					3																	93714777		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93714777G>T	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.119G>T	3.37:g.93714777G>T	ENSP00000377769:p.Gly40Val					ARL13B_uc010hop.2_Nonsense_Mutation_p.E10*|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.G40V|ARL13B_uc003drg.2_Intron	p.G40V	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			2	405	+			40					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.119G>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454838	0.63290	.	.	ENSG00000169379	ENST00000478400;ENST00000394222;ENST00000471138	T;T	0.62639	0.01;0.01	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	N	0.12887	0.27	0.80722	D	1	B	0.28470	0.213	B	0.33960	0.173	T	0.49263	-0.8958	10	0.40728	T	0.16	0.1083	19.7036	0.96065	0.0:0.0:1.0:0.0	.	40	Q3SXY8	AR13B_HUMAN	V	15;40;40	ENSP00000377769:G40V;ENSP00000420780:G40V	ENSP00000335400:G40V	G	+	2	0	ARL13B	95197467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	2.660000	0.90430	0.655000	0.94253	GGA		0.289	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1		NM_182896		8	39	1	0	0.000978159	0.010729	0.00103692	8	39		
PLCH1	23007	broad.mit.edu	37	3	155215191	155215191	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:155215191C>T	ENST00000340059.7	-	14	1775	c.1776G>A	c.(1774-1776)agG>agA	p.R592R	PLCH1_ENST00000460012.1_Silent_p.R574R|PLCH1_ENST00000414191.1_Silent_p.R574R|PLCH1_ENST00000447496.2_Silent_p.R592R|PLCH1_ENST00000334686.6_Silent_p.R574R|PLCH1_ENST00000494598.1_Silent_p.R592R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	592					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGTTTTCCTTCGGCGAC	0.463																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.(1774-1776)AGG>AGA		phospholipase C eta 1 isoform a							118.0	107.0	111.0					3																	155215191		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215191C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1776G>A	3.37:g.155215191C>T						PLCH1_uc011boj.1_Silent_p.R592R|PLCH1_uc011bol.1_Silent_p.R574R	p.R592R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2053	-			592					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1776G>A	CCDS46939.1																																																																																				0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		15	82	0	0	0	0.006122	0	15	82		
MFN1	55669	broad.mit.edu	37	3	179109794	179109794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:179109794G>C	ENST00000471841.1	+	18	2299	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	MFN1_ENST00000280653.7_Missense_Mutation_p.E614Q|MFN1_ENST00000263969.5_Missense_Mutation_p.E725Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	725					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACTTGAAAATGAGCTGGAGAA	0.313																																						uc003fjs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2173-2175)GAG>CAG		mitofusin 1							47.0	50.0	49.0					3																	179109794		2200	4298	6498	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179109794G>C	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2173G>C	3.37:g.179109794G>C	ENSP00000420617:p.Glu725Gln					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E753Q|MFN1_uc010hxc.2_Missense_Mutation_p.E467Q	p.E725Q	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		18	2299	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		725			Cytoplasmic (Potential).|Potential.		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.2173G>C	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113472	0.37339	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.45	2.59	0.31030	Fzo/mitofusin HR2 domain (1);	0.199969	0.52532	N	0.000065	D	0.93374	0.7887	L	0.36672	1.1	0.21984	N	0.999434	B;B;B	0.27416	0.178;0.019;0.002	B;B;B	0.36845	0.234;0.033;0.033	D	0.86142	0.1582	10	0.42905	T	0.14	-7.8637	10.0224	0.42051	0.0715:0.2615:0.667:0.0	.	614;753;725	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	Q	725;614;725;477	ENSP00000420617:E725Q;ENSP00000280653:E614Q;ENSP00000263969:E725Q;ENSP00000419926:E477Q	ENSP00000263969:E725Q	E	+	1	0	MFN1	180592488	0.995000	0.38212	0.998000	0.56505	0.997000	0.91878	2.188000	0.42612	0.243000	0.21327	0.650000	0.86243	GAG		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927		3	48	0	0	0	0.004672	0	3	48		
VPS8	23355	broad.mit.edu	37	3	184714261	184714261	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:184714261G>C	ENST00000437079.3	+	44	3979	c.3808G>C	c.(3808-3810)Gaa>Caa	p.E1270Q	VPS8_ENST00000287546.4_Missense_Mutation_p.E1270Q|VPS8_ENST00000436792.2_Missense_Mutation_p.E1268Q|VPS8_ENST00000446204.2_Missense_Mutation_p.E1178Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1270							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGACGCCAAGAAATGGCTGA	0.418																																						uc003fpb.1		NaN																	0				ovary(1)	1						c.(3802-3804)GAA>CAA		vacuolar protein sorting 8 homolog isoform b							78.0	77.0	77.0					3																	184714261		1916	4129	6045	SO:0001583	missense	23355						zinc ion binding	g.chr3:184714261G>C	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3808G>C	3.37:g.184714261G>C	ENSP00000397879:p.Glu1270Gln					VPS8_uc010hyd.1_Missense_Mutation_p.E1178Q|VPS8_uc010hye.1_Missense_Mutation_p.E697Q	p.E1268Q	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3973	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1270			RING-type; atypical.		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3802G>C	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031617	0.54790	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.046134	0.85682	D	0.000000	T	0.59088	0.2168	L	0.37630	1.12	0.58432	D	0.999999	B;P;P	0.41188	0.38;0.741;0.514	B;B;B	0.38880	0.084;0.284;0.173	T	0.54193	-0.8330	10	0.14252	T	0.57	-18.0038	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1270;1178;1268	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Q	1270;1270;1268;1178	ENSP00000287546:E1270Q;ENSP00000397879:E1270Q;ENSP00000404704:E1268Q;ENSP00000405483:E1178Q	ENSP00000287546:E1270Q	E	+	1	0	VPS8	186196955	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	9.155000	0.94700	2.854000	0.98071	0.655000	0.94253	GAA		0.418	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015303		4	42	0	0	0	0.009096	0	4	42		
MAP3K13	9175	broad.mit.edu	37	3	185200201	185200201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:185200201C>G	ENST00000265026.3	+	14	3192	c.2858C>G	c.(2857-2859)gCc>gGc	p.A953G	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A746G|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A953G|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A809G|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A809G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTCTGATGCCACAGTTAGG	0.443																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(2857-2859)GCC>GGC		mitogen-activated protein kinase kinase kinase							219.0	193.0	202.0					3																	185200201		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185200201C>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2858C>G	3.37:g.185200201C>G	ENSP00000265026:p.Ala953Gly					MAP3K13_uc011brt.1_Missense_Mutation_p.A746G|MAP3K13_uc011bru.1_Missense_Mutation_p.A809G|MAP3K13_uc003fpi.2_Missense_Mutation_p.A953G|MAP3K13_uc010hyg.2_Missense_Mutation_p.A643G	p.A953G	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		15	3124	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		953						Missense_Mutation	SNP	ENST00000265026.3	37	c.2858C>G	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657094	0.88154	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.79845	-1.31;-1.27;-1.19;-1.19;-1.27	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	N	0.24115	0.695	0.80722	D	1	D;D;P	0.55385	0.971;0.971;0.952	P;P;P	0.50934	0.654;0.654;0.452	T	0.81632	-0.0845	10	0.66056	D	0.02	.	20.1197	0.97955	0.0:1.0:0.0:0.0	.	809;746;953	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	G	746;953;809;809;953	ENSP00000411483:A746G;ENSP00000399910:A953G;ENSP00000409325:A809G;ENSP00000439257:A809G;ENSP00000265026:A953G	ENSP00000265026:A953G	A	+	2	0	MAP3K13	186682895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.438000	0.80431	2.770000	0.95276	0.650000	0.86243	GCC		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		4	245	0	0	0	0.001168	0	4	245		
TNK2	10188	broad.mit.edu	37	3	195610067	195610067	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:195610067G>A	ENST00000333602.6	-	5	1187	c.570C>T	c.(568-570)atC>atT	p.I190I	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.I253I|TNK2_ENST00000428187.1_Silent_p.I222I|TNK2_ENST00000316664.3_Silent_p.I190I|TNK2_ENST00000392400.1_Silent_p.I190I	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGTAGAGGCGGATGAGGTTTC	0.632																																						uc003fvu.1		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(568-570)ATC>ATT		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						92.0	74.0	80.0					3																	195610067		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195610067G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.570C>T	3.37:g.195610067G>A						TNK2_uc003fvs.1_Silent_p.I222I|TNK2_uc003fvt.1_Silent_p.I253I|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.I20I|TNK2_uc010hzx.1_Silent_p.I204I	p.I190I	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	5	1113	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	190			Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.570C>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	8.463	0.855738	0.17106	.	.	ENSG00000061938	ENST00000438207	.	.	.	5.44	-5.16	0.02857	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63620	-0.6596	4	.	.	.	.	13.8135	0.63276	0.3378:0.0:0.6622:0.0	.	.	.	.	F	115	.	.	S	-	2	0	TNK2	197094464	0.678000	0.27586	0.964000	0.40570	0.544000	0.35116	-0.165000	0.09968	-0.776000	0.04578	-1.088000	0.02184	TCC		0.632	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		17	96	0	0	0	0.008871	0	17	96		
SLC4A4	8671	broad.mit.edu	37	4	72400084	72400084	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72400084C>T	ENST00000264485.5	+	18	2538	c.2421C>T	c.(2419-2421)aaC>aaT	p.N807N	SLC4A4_ENST00000340595.3_Silent_p.N763N|SLC4A4_ENST00000425175.1_Silent_p.N807N|SLC4A4_ENST00000351898.6_Silent_p.N807N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	807					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGATTGTAAACAGGAAAGAAC	0.383																																						uc003hfy.2		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2419-2421)AAC>AAT		solute carrier family 4, sodium bicarbonate							92.0	93.0	92.0					4																	72400084		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72400084C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2421C>T	4.37:g.72400084C>T						SLC4A4_uc010iic.2_Silent_p.N807N|SLC4A4_uc010iib.2_Silent_p.N807N|SLC4A4_uc003hfz.2_Silent_p.N807N|SLC4A4_uc003hgc.3_Silent_p.N763N|SLC4A4_uc010iid.2_Silent_p.N11N	p.N807N	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2538	+			807			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2421C>T	CCDS43236.1																																																																																				0.383	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759		7	47	0	0	0	0.00308	0	7	47		
SLC4A4	8671	broad.mit.edu	37	4	72412136	72412136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72412136C>T	ENST00000264485.5	+	19	2629	c.2512C>T	c.(2512-2514)Ctt>Ttt	p.L838F	SLC4A4_ENST00000340595.3_Missense_Mutation_p.L794F|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L838F|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	838					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.L794F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCTCATGGCTCTTCCGTGGTA	0.463																																						uc003hfy.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)|kidney(1)|skin(1)	5						c.(2512-2514)CTT>TTT		solute carrier family 4, sodium bicarbonate							257.0	201.0	220.0					4																	72412136		2203	4299	6502	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412136C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2512C>T	4.37:g.72412136C>T	ENSP00000264485:p.Leu838Phe					SLC4A4_uc010iic.2_Missense_Mutation_p.L838F|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Missense_Mutation_p.L838F|SLC4A4_uc003hgc.3_Missense_Mutation_p.L794F|SLC4A4_uc010iid.2_Missense_Mutation_p.L42F	p.L838F	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		19	2629	+			838			Helical; (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2512C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550339	0.86127	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	D;D;D	0.84070	-1.8;-1.8;-1.8	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93148	0.7818	M	0.90650	3.135	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.81914	0.995;0.984;0.991	D	0.93835	0.7131	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	838;794;838	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	F	838;838;794	ENSP00000264485:L838F;ENSP00000393557:L838F;ENSP00000344272:L794F	ENSP00000264485:L838F	L	+	1	0	SLC4A4	72631000	1.000000	0.71417	0.634000	0.29324	0.573000	0.36030	6.070000	0.71220	2.708000	0.92522	0.650000	0.86243	CTT		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759		17	104	0	0	0	0.014323	0	17	104		
HERC5	51191	broad.mit.edu	37	4	89385092	89385092	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:89385092G>T	ENST00000264350.3	+	6	1020	c.867G>T	c.(865-867)gtG>gtT	p.V289V		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	289					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCTGTTTGGTGGCTGAGCTTG	0.413																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NaN																	0				ovary(4)|lung(3)|skin(2)	9						c.(865-867)GTG>GTT		hect domain and RLD 5							173.0	155.0	161.0					4																	89385092		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89385092G>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.867G>T	4.37:g.89385092G>T							p.V289V	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	6	1020	+		Hepatocellular(203;0.114)	289			RCC1 4.		B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.867G>T	CCDS3630.1																																																																																				0.413	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2		NM_016323		15	54	1	0	3.41278e-10	0.00499	3.95303e-10	15	54		
KIAA1109	84162	broad.mit.edu	37	4	123255651	123255651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:123255651G>C	ENST00000264501.4	+	69	12172	c.11799G>C	c.(11797-11799)caG>caC	p.Q3933H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q3933H			Q2LD37	K1109_HUMAN	KIAA1109	3933					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACTGTCCAGAGCAAGACTA	0.408																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(11797-11799)CAG>CAC		fragile site-associated protein							134.0	135.0	135.0					4																	123255651		1947	4133	6080	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123255651G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11799G>C	4.37:g.123255651G>C	ENSP00000264501:p.Gln3933His					KIAA1109_uc003iem.2_Intron	p.Q3933H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			67	11844	+			3933					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11799G>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792436	0.31685	.	.	ENSG00000138688	ENST00000264501;ENST00000388738	T;T	0.14893	2.47;2.47	5.34	3.47	0.39725	.	0.198294	0.33057	N	0.005334	T	0.11580	0.0282	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.14252	T	0.57	.	15.0288	0.71691	0.0:0.5745:0.4255:0.0	.	3933	Q2LD37	K1109_HUMAN	H	3933	ENSP00000264501:Q3933H;ENSP00000373390:Q3933H	ENSP00000264501:Q3933H	Q	+	3	2	KIAA1109	123475101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.992000	0.40737	1.345000	0.45676	0.650000	0.86243	CAG		0.408	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		27	100	0	0	0	0.007835	0	27	100		
JADE1	79960	broad.mit.edu	37	4	129778586	129778586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:129778586G>T	ENST00000226319.6	+	8	1238	c.958G>T	c.(958-960)Gag>Tag	p.E320*	PHF17_ENST00000452328.2_Nonsense_Mutation_p.E308*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.E320*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.E320*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.E320*	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTCTGCAATGAGAAGTTTGG	0.537																																						uc003igk.2		NaN																	0					0						c.(958-960)GAG>TAG		PHD finger protein 17 long isoform							163.0	169.0	167.0					4																	129778586		2203	4300	6503	SO:0001587	stop_gained	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129778586G>T																												ENST00000226319.6:c.958G>T	4.37:g.129778586G>T	ENSP00000226319:p.Glu320*					PHF17_uc003igj.2_Nonsense_Mutation_p.E320*|PHF17_uc003igl.2_Nonsense_Mutation_p.E308*|PHF17_uc011cgy.1_Nonsense_Mutation_p.E320*|PHF17_uc003igm.2_Nonsense_Mutation_p.E320*	p.E320*	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			8	1238	+			320			PHD-type 2; atypical.			Nonsense_Mutation	SNP	ENST00000226319.6	37	c.958G>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.898788	0.97081	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	4.47	4.47	0.54385	.	0.049117	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.68	0.88240	0.0:0.0:1.0:0.0	.	.	.	.	X	320;320;308;320;320;320	.	.	E	+	1	0	PHF17	129998036	1.000000	0.71417	0.987000	0.45799	0.847000	0.48162	6.869000	0.75521	2.473000	0.83533	0.655000	0.94253	GAG		0.537	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1				43	144	1	0	2.46787e-29	0.01441	2.92633e-29	43	144		
RNF150	57484	broad.mit.edu	37	4	141888843	141888843	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:141888843G>T	ENST00000515673.2	-	2	702	c.669C>A	c.(667-669)tcC>tcA	p.S223S	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000420921.2_Silent_p.S82S|RNF150_ENST00000507500.1_Silent_p.S223S|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Silent_p.S82S			Q9ULK6	RN150_HUMAN	ring finger protein 150	223						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCCATGCGAGGGAAATGATCA	0.423																																						uc003iio.1		NaN																	0				ovary(1)	1						c.(667-669)TCC>TCA		ring finger protein 150 precursor							159.0	145.0	150.0					4																	141888843		2203	4300	6503	SO:0001819	synonymous_variant	57484					integral to membrane	zinc ion binding	g.chr4:141888843G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.669C>A	4.37:g.141888843G>T						RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Silent_p.S223S	p.S223S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			2	1323	-	all_hematologic(180;0.162)		223			Helical; (Potential).		Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	c.669C>A	CCDS34065.1																																																																																				0.423	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2		XM_291090		17	92	1	0	1.99824e-07	0.00499	2.22026e-07	17	92		
GRIA2	2891	broad.mit.edu	37	4	158281083	158281083	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:158281083C>T	ENST00000264426.9	+	13	2358	c.2079C>T	c.(2077-2079)acC>acT	p.T693T	GRIA2_ENST00000393815.2_Silent_p.T646T|GRIA2_ENST00000296526.7_Silent_p.T693T|GRIA2_ENST00000507898.1_Silent_p.T646T|GRIA2_ENST00000449365.1_Silent_p.T646T|AC079233.1_ENST00000578227.1_RNA	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	693					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAATGTGGACCTACATGCGGA	0.468																																						uc003ipm.3		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2077-2079)ACC>ACT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						71.0	70.0	70.0					4																	158281083		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281083C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2079C>T	4.37:g.158281083C>T						GRIA2_uc011cit.1_Silent_p.T646T|GRIA2_uc003ipl.3_Silent_p.T693T|GRIA2_uc003ipk.3_Silent_p.T646T|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.T3T|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Silent_p.T3T|GRIA2_uc011ciy.1_Silent_p.T3T|GRIA2_uc011ciz.1_RNA	p.T693T	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2538	+	all_hematologic(180;0.24)	Renal(120;0.0458)	693			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2079C>T	CCDS43274.1																																																																																				0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2				7	17	0	0	0	0.001984	0	7	17		
DROSHA	29102	broad.mit.edu	37	5	31472255	31472255	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:31472255A>G	ENST00000511367.2	-	16	2400	c.2156T>C	c.(2155-2157)aTt>aCt	p.I719T	DROSHA_ENST00000442743.1_Missense_Mutation_p.I682T|DROSHA_ENST00000344624.3_Missense_Mutation_p.I719T|DROSHA_ENST00000513349.1_Missense_Mutation_p.I682T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	719	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CATATTGGCAATCTCCTCCTC	0.512																																						uc003jhg.2		NaN																	0					0						c.(2155-2157)ATT>ACT		ribonuclease III, nuclear isoform 1							142.0	140.0	141.0					5																	31472255		2057	4197	6254	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31472255A>G	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2156T>C	5.37:g.31472255A>G	ENSP00000425979:p.Ile719Thr					RNASEN_uc003jhh.2_Missense_Mutation_p.I682T|RNASEN_uc003jhi.2_Missense_Mutation_p.I682T	p.I719T	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			16	2515	-			719			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2156T>C	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353199	0.82132	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.50277	1.32;1.32;0.75;0.75	5.51	5.51	0.81932	.	0.049805	0.85682	D	0.000000	T	0.48429	0.1499	L	0.54323	1.7	0.80722	D	1	D;B	0.57257	0.979;0.019	B;B	0.43701	0.428;0.021	T	0.55872	-0.8072	10	0.87932	D	0	-14.9291	15.9178	0.79535	1.0:0.0:0.0:0.0	.	682;719	E7EMP9;Q9NRR4	.;RNC_HUMAN	T	719;719;682;682;644;675	ENSP00000425979:I719T;ENSP00000339845:I719T;ENSP00000409335:I682T;ENSP00000424161:I682T	ENSP00000265075:I644T	I	-	2	0	DROSHA	31508012	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	8.795000	0.91872	2.216000	0.71823	0.533000	0.62120	ATT		0.512	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235		32	130	0	0	0	0.006999	0	32	130		
FST	10468	broad.mit.edu	37	5	52780943	52780943	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:52780943G>C	ENST00000256759.3	+	5	1221	c.838G>C	c.(838-840)Gat>Cat	p.D280H	FST_ENST00000396947.3_Missense_Mutation_p.D280H	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	280	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTAAGTCGGATGAGCCTGT	0.522																																						uc003jpd.2		NaN																	0					0						c.(838-840)GAT>CAT		follistatin isoform FST344 precursor							222.0	193.0	203.0					5																	52780943		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780943G>C	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.838G>C	5.37:g.52780943G>C	ENSP00000256759:p.Asp280His					FST_uc003jpc.2_Missense_Mutation_p.D280H	p.D280H	NM_013409	NP_037541	P19883	FST_HUMAN			5	865	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	280			Kazal-like 3.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.838G>C	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982629	0.53827	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.05649	3.41;3.41;3.41	5.45	5.45	0.79879	Proteinase inhibitor I1, Kazal (2);	0.088977	0.85682	D	0.000000	T	0.16300	0.0392	L	0.42245	1.32	0.58432	D	0.999998	P	0.48294	0.908	P	0.55508	0.777	T	0.00129	-1.2016	10	0.48119	T	0.1	-14.6361	19.6555	0.95837	0.0:0.0:1.0:0.0	.	280	P19883	FST_HUMAN	H	280;280;280;151	ENSP00000256759:D280H;ENSP00000380151:D280H;ENSP00000426315:D151H	ENSP00000256759:D280H	D	+	1	0	FST	52816700	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	8.009000	0.88606	2.725000	0.93324	0.655000	0.94253	GAT		0.522	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1		NM_013409		31	60	0	0	0	0.015359	0	31	60		
ERBB2IP	55914	broad.mit.edu	37	5	65290597	65290597	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:65290597T>C	ENST00000284037.5	+	4	601	c.212T>C	c.(211-213)tTa>tCa	p.L71S	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L71S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	71					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGTCAGTCTTTACACAAACTG	0.333																																						uc003juk.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(211-213)TTA>TCA		ERBB2 interacting protein isoform 2							92.0	89.0	90.0					5																	65290597		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65290597T>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.212T>C	5.37:g.65290597T>C	ENSP00000284037:p.Leu71Ser					ERBB2IP_uc003juh.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jui.1_Missense_Mutation_p.L71S|ERBB2IP_uc003juj.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L71S|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jul.1_Missense_Mutation_p.L71S	p.L71S	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	4	520	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	71			LRR 3.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.212T>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448690	0.84101	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999	D	0.91234	0.5016	10	0.87932	D	0	.	15.639	0.76981	0.0:0.0:0.0:1.0	.	71;71;71;71;71;71;71;71	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	S	71	ENSP00000284037:L71S;ENSP00000370330:L71S;ENSP00000397833:L71S;ENSP00000370326:L71S;ENSP00000370323:L71S;ENSP00000370322:L71S;ENSP00000370325:L71S;ENSP00000422766:L71S;ENSP00000426632:L71S;ENSP00000422015:L71S	ENSP00000284037:L71S	L	+	2	0	ERBB2IP	65326353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.599000	0.82757	2.140000	0.66376	0.482000	0.46254	TTA		0.333	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		5	7	0	0	0	0.014758	0	5	7		
FNIP1	96459	broad.mit.edu	37	5	130987673	130987673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:130987673G>C	ENST00000510461.1	-	16	3223	c.3128C>G	c.(3127-3129)cCa>cGa	p.P1043R	FNIP1_ENST00000307954.8_Missense_Mutation_p.P998R|FNIP1_ENST00000307968.7_Missense_Mutation_p.P1015R|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1043					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCTGCTATTGGTTCATCCAA	0.363																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(3127-3129)CCA>CGA		folliculin interacting protein 1 isoform 1							82.0	77.0	79.0					5																	130987673		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:130987673G>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3128C>G	5.37:g.130987673G>C	ENSP00000421985:p.Pro1043Arg					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.P1015R	p.P1043R	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	16	3270	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	1043					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3128C>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589677	0.86851	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.17054	2.3;2.33;2.32	5.36	5.36	0.76844	.	.	.	.	.	T	0.47619	0.1455	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.49969	-0.8882	9	0.87932	D	0	-5.8143	19.4571	0.94897	0.0:0.0:1.0:0.0	.	1015;1043	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	R	1015;998;795;1043	ENSP00000309266:P1015R;ENSP00000310453:P998R;ENSP00000421985:P1043R	ENSP00000310453:P998R	P	-	2	0	FNIP1	131015572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.690000	0.91761	0.655000	0.94253	CCA		0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		9	52	0	0	0	0.008291	0	9	52		
PCDHGA3	56112	broad.mit.edu	37	5	140723652	140723652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:140723652G>A	ENST00000253812.6	+	1	52	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	18					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGTGCGCGCTCCTGGG	0.537											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1		NaN																	0				breast(1)	1						c.(52-54)GCG>ACG		protocadherin gamma subfamily A, 3 isoform 1							124.0	136.0	132.0					5																	140723652		2077	4234	6311	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723652G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.52G>A	5.37:g.140723652G>A	ENSP00000253812:p.Ala18Thr		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.A18T	p.A18T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	52	+			18					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.52G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	9.398	1.077337	0.20227	.	.	ENSG00000254245	ENST00000253812	T	0.46819	0.86	5.54	1.57	0.23409	.	4.056370	0.02056	U	0.050427	T	0.34542	0.0901	N	0.25957	0.775	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.10450	0.005;0.001	T	0.20306	-1.0279	10	0.39692	T	0.17	.	3.0437	0.06146	0.1578:0.1171:0.5319:0.1933	.	18;18	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	18	ENSP00000253812:A18T	ENSP00000253812:A18T	A	+	1	0	PCDHGA3	140703836	0.000000	0.05858	0.640000	0.29408	0.907000	0.53573	-0.716000	0.04991	0.813000	0.34350	0.655000	0.94253	GCG		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1		NM_018916		5	227	0	0	0	0.001984	0	5	227		
PCDH1	5097	broad.mit.edu	37	5	141244926	141244926	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:141244926C>T	ENST00000394536.3	-	3	1109	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.E302K|PCDH1_ENST00000287008.3_Missense_Mutation_p.E324K|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.E312K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCACAACTTCGGGCGCCTGG	0.532																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NaN																	0				ovary(5)	5						c.(970-972)GAA>AAA		protocadherin 1 isoform 1 precursor							90.0	94.0	93.0					5																	141244926		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244926C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.970G>A	5.37:g.141244926C>T	ENSP00000378043:p.Glu324Lys					PCDH1_uc003llp.2_Missense_Mutation_p.E324K|PCDH1_uc011dbf.1_Missense_Mutation_p.E302K	p.E324K	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1087	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	324			Extracellular (Potential).|Cadherin 3.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.970G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.935267	0.34189	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.118903	0.37012	N	0.002292	T	0.48314	0.1493	L	0.39467	1.215	0.29264	N	0.871155	B;B	0.28900	0.227;0.112	B;B	0.33690	0.168;0.078	T	0.49826	-0.8898	10	0.40728	T	0.16	.	16.2043	0.82114	0.0:1.0:0.0:0.0	.	324;324	Q08174;Q08174-2	PCDH1_HUMAN;.	K	324;324;312;335;302	ENSP00000287008:E324K;ENSP00000378043:E324K;ENSP00000403497:E312K;ENSP00000350122:E335K;ENSP00000438825:E302K	ENSP00000287008:E324K	E	-	1	0	PCDH1	141225110	0.999000	0.42202	0.113000	0.21522	0.034000	0.12701	4.473000	0.60196	2.699000	0.92147	0.645000	0.84053	GAA		0.532	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420		13	77	0	0	0	0.016723	0	13	77		
FAT2	2196	broad.mit.edu	37	5	150889707	150889707	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:150889707G>A	ENST00000261800.5	-	21	11946	c.11934C>T	c.(11932-11934)ttC>ttT	p.F3978F	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3978	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCCAGAGAACTGTGGGG	0.522																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(11932-11934)TTC>TTT		FAT tumor suppressor 2 precursor							126.0	128.0	127.0					5																	150889707		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150889707G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11934C>T	5.37:g.150889707G>A						GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.F585F	p.F3978F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	11947	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3978			Extracellular (Potential).|EGF-like 1.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.11934C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.890114	0.02511	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.54	2.82	0.32997	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50734	-0.8793	4	.	.	.	.	9.0367	0.36291	0.3567:0.0:0.6433:0.0	.	.	.	.	F	751	.	.	L	-	1	0	FAT2	150869900	1.000000	0.71417	0.546000	0.28166	0.015000	0.08874	1.051000	0.30417	0.309000	0.22966	-0.140000	0.14226	CTC		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		36	96	0	0	0	0.01441	0	36	96		
HK3	3101	broad.mit.edu	37	5	176308338	176308338	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:176308338C>G	ENST00000292432.5	-	18	2683	c.2592G>C	c.(2590-2592)gtG>gtC	p.V864V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	864	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCACCCCCACAGACACTG	0.682																																						uc003mfa.2		NaN																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2590-2592)GTG>GTC		hexokinase 3							100.0	109.0	106.0					5																	176308338		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308338C>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2592G>C	5.37:g.176308338C>G						HK3_uc003mez.2_Silent_p.V420V	p.V864V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2684	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	864			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.2592G>C	CCDS4407.1																																																																																				0.682	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1				33	237	0	0	0	0.007835	0	33	237		
FOXF2	2295	broad.mit.edu	37	6	1390493	1390493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:1390493C>T	ENST00000259806.1	+	1	425	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	104					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCGCCCTACTCGTACATCGCG	0.716																																						uc003mtm.2		NaN																	0					0						c.(310-312)TCG>TTG		forkhead box F2							18.0	19.0	19.0					6																	1390493		2200	4299	6499	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390493C>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.311C>T	6.37:g.1390493C>T	ENSP00000259806:p.Ser104Leu					FOXF2_uc003mtn.2_Missense_Mutation_p.S104L	p.S104L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	425	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	104			Fork-head.		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.311C>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094482	0.94149	.	.	ENSG00000137273	ENST00000259806	D	0.97598	-4.45	3.99	3.99	0.46301	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.99004	0.9660	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	.	14.6959	0.69121	0.0:1.0:0.0:0.0	.	104	Q12947	FOXF2_HUMAN	L	104	ENSP00000259806:S104L	ENSP00000259806:S104L	S	+	2	0	FOXF2	1335492	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.528000	0.67129	1.780000	0.52325	0.543000	0.68304	TCG		0.716	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1				6	23	0	0	0	0.00308	0	6	23		
FAM50B	26240	broad.mit.edu	37	6	3850302	3850302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:3850302G>T	ENST00000380274.1	+	1	683	c.257G>T	c.(256-258)cGg>cTg	p.R86L	FAM50B_ENST00000380272.3_Missense_Mutation_p.R86L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	86						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GAGCGCGAGCGGCAGCTGGCC	0.701																																						uc003mvu.2		NaN																	0				pancreas(1)	1						c.(256-258)CGG>CTG		family with sequence similarity 50, member B							16.0	20.0	19.0					6																	3850302		2197	4297	6494	SO:0001583	missense	26240					nucleus		g.chr6:3850302G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.257G>T	6.37:g.3850302G>T	ENSP00000369627:p.Arg86Leu						p.R86L	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			2	369	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	86					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.257G>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	g	8.249	0.808570	0.16467	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.39	-8.78	0.00824	.	0.377355	0.27504	U	0.019077	T	0.07954	0.0199	L	0.42245	1.32	0.20196	N	0.999925	B	0.15141	0.012	B	0.22880	0.042	T	0.13953	-1.0490	9	0.39692	T	0.17	-3.6969	2.4453	0.04505	0.2546:0.0783:0.1444:0.5227	.	86	Q9Y247	FA50B_HUMAN	L	86	.	ENSP00000369625:R86L	R	+	2	0	FAM50B	3795301	0.941000	0.31946	0.007000	0.13788	0.097000	0.18754	-0.056000	0.11787	-3.583000	0.00137	-0.359000	0.07587	CGG		0.701	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1		NM_012135		14	6	1	0	9.31168e-06	0.016723	1.01582e-05	14	6		
KDM1B	221656	broad.mit.edu	37	6	18212781	18212781	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:18212781G>A	ENST00000297792.5	+	14	1410	c.1233G>A	c.(1231-1233)ttG>ttA	p.L411L	KDM1B_ENST00000388870.2_Silent_p.L644L|KDM1B_ENST00000397244.1_Silent_p.L412L|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	643					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATCCACCGTTGTCAGAGAAGA	0.403																																						uc003nco.1		NaN																	0				skin(1)	1						c.(1318-1320)TTG>TTA		amine oxidase (flavin containing) domain 1							206.0	185.0	192.0					6																	18212781		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18212781G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1233G>A	6.37:g.18212781G>A						KDM1B_uc003ncn.1_Silent_p.L411L|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR	p.L440L	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			11	1395	+			643					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1320G>A	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262744	0.10294	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.79	0.835	0.18886	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15065	-1.0450	4	.	.	.	-19.5584	3.3926	0.07294	0.1814:0.3058:0.4064:0.1064	.	.	.	.	Y	461	.	.	C	+	2	0	KDM1B	18320760	1.000000	0.71417	0.359000	0.25824	0.550000	0.35303	0.694000	0.25512	-0.129000	0.11620	-0.133000	0.14855	TGT		0.403	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1		NM_153042		14	142	0	0	0	0.020292	0	14	142		
HLA-E	3133	broad.mit.edu	37	6	30459140	30459140	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:30459140G>C	ENST00000376630.4	+	4	902	c.837G>C	c.(835-837)acG>acC	p.T279T		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGAGATACACGTGCCATGTGC	0.622																																						uc003nqg.2		NaN																	0				central_nervous_system(4)|ovary(1)	5						c.(835-837)ACG>ACC		major histocompatibility complex, class I, E							95.0	83.0	87.0					6																	30459140		1511	2709	4220	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30459140G>C	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.837G>C	6.37:g.30459140G>C						HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.T320T	p.T279T	NM_005516	NP_005507	P13747	HLAE_HUMAN			4	875	+			279			Ig-like C1-type.|Alpha-3.|Extracellular (Potential).		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.837G>C	CCDS34379.1																																																																																				0.622	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2		NM_005516		3	110	0	0	0	0.004672	0	3	110		
VWA7	80737	broad.mit.edu	37	6	31734367	31734367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:31734367G>A	ENST00000375688.4	-	14	2257	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.S686L|VWA7_ENST00000447450.1_Silent_p.L679L			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	686						extracellular region (GO:0005576)											GGGCGACAGCGAGGCTGCGAG	0.692																																						uc011dog.1		NaN																	0				ovary(3)	3						c.(2056-2058)TCG>TTG		G7c protein precursor							41.0	41.0	41.0					6																	31734367		1510	2709	4219	SO:0001583	missense	80737					extracellular region		g.chr6:31734367G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2057C>T	6.37:g.31734367G>A	ENSP00000364840:p.Ser686Leu					C6orf27_uc003nxd.2_Missense_Mutation_p.S361L	p.S686L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			14	2295	-			686					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2057C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187558	0.21870	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.14391	2.74;2.51	5.74	3.59	0.41128	.	0.964704	0.08572	N	0.925851	T	0.02267	0.0070	N	0.19112	0.55	0.20196	N	0.999925	B	0.15141	0.012	B	0.08055	0.003	T	0.42682	-0.9437	10	0.09084	T	0.74	-1.8764	7.8201	0.29282	0.0977:0.1691:0.7332:0.0	.	686	Q9Y334	G7C_HUMAN	L	686	ENSP00000364840:S686L;ENSP00000364838:S686L	ENSP00000364838:S686L	S	-	2	0	C6orf27	31842346	0.088000	0.21588	0.500000	0.27589	0.883000	0.51084	1.522000	0.35921	1.389000	0.46526	0.563000	0.77884	TCG		0.692	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		3	57	0	0	0	0.009096	0	3	57		
ZNF76	7629	broad.mit.edu	37	6	35262967	35262967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35262967C>T	ENST00000373953.3	+	14	1921	c.1655C>T	c.(1654-1656)gCg>gTg	p.A552V	DEF6_ENST00000316637.5_5'Flank|ZNF76_ENST00000339411.5_Missense_Mutation_p.A497V|ZNF76_ENST00000440666.2_Missense_Mutation_p.A526V|DEF6_ENST00000542066.1_5'Flank	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	552					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGGCCACTGCGGCCATGCAG	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1		NaN																	0					0						c.(1654-1656)GCG>GTG		zinc finger protein 76 (expressed in testis)							64.0	50.0	55.0					6																	35262967		2203	4299	6502	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35262967C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1655C>T	6.37:g.35262967C>T	ENSP00000363064:p.Ala552Val					ZNF76_uc003okj.1_Missense_Mutation_p.A497V|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank	p.A552V	NM_003427	NP_003418	P36508	ZNF76_HUMAN			14	1860	+			552					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1655C>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670116	0.67814	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.10192	2.9;2.91;2.93	5.91	5.04	0.67666	.	0.157349	0.29791	N	0.011193	T	0.05044	0.0135	L	0.47716	1.5	0.48135	D	0.999592	P;P	0.47604	0.898;0.727	B;B	0.37387	0.248;0.059	T	0.17289	-1.0374	10	0.72032	D	0.01	.	12.12	0.53885	0.0:0.9208:0.0:0.0792	.	497;552	P36508-2;P36508	.;ZNF76_HUMAN	V	552;526;497	ENSP00000363064:A552V;ENSP00000392243:A526V;ENSP00000344097:A497V	ENSP00000344097:A497V	A	+	2	0	ZNF76	35370945	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	6.579000	0.74036	1.500000	0.48636	0.655000	0.94253	GCG		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2		NM_003427		7	18	0	0	0	0.004482	0	7	18		
ARMC12	221481	broad.mit.edu	37	6	35716570	35716570	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35716570C>G	ENST00000373866.3	+	6	968	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	ARMC12_ENST00000373869.3_Missense_Mutation_p.L306V|ARMC12_ENST00000288065.2_Missense_Mutation_p.L343V			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	316						nucleus (GO:0005634)											CATTGTCAGCCTGCAGTATCC	0.532																																						uc003ola.2		NaN																	0				ovary(1)	1						c.(1027-1029)CTG>GTG		hypothetical protein LOC221481							71.0	69.0	70.0					6																	35716570		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35716570C>G	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.946C>G	6.37:g.35716570C>G	ENSP00000362973:p.Leu316Val					C6orf81_uc003olb.1_Missense_Mutation_p.L306V	p.L343V	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN			6	1054	+			316			ARM 3.		Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.1027C>G		.	.	.	.	.	.	.	.	.	.	C	17.41	3.381902	0.61845	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.62105	0.05;1.0;1.0	4.77	3.89	0.44902	.	0.000000	0.39083	N	0.001466	T	0.54303	0.1850	L	0.29908	0.895	0.31866	N	0.620316	D;D	0.76494	0.999;0.998	D;D	0.83275	0.994;0.996	T	0.58808	-0.7571	10	0.62326	D	0.03	.	9.2725	0.37679	0.0:0.8948:0.0:0.1052	.	306;343	Q5T9G4-3;Q5T9G4-2	.;.	V	306;343;316	ENSP00000362976:L306V;ENSP00000288065:L343V;ENSP00000362973:L316V	ENSP00000288065:L343V	L	+	1	2	C6orf81	35824548	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.812000	0.27211	0.975000	0.38392	0.563000	0.77884	CTG		0.532	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2		NM_145028		30	85	0	0	0	0.012213	0	30	85		
NFYA	4800	broad.mit.edu	37	6	41051837	41051837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:41051837C>T	ENST00000341376.6	+	4	416	c.215C>T	c.(214-216)tCa>tTa	p.S72L	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.S43L	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	72	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTAATCACATCAACTGGCCAA	0.453																																						uc003opo.2		NaN																	0					0						c.(214-216)TCA>TTA		nuclear transcription factor Y, alpha isoform 1							104.0	80.0	88.0					6																	41051837		2203	4300	6503	SO:0001583	missense	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41051837C>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.215C>T	6.37:g.41051837C>T	ENSP00000345702:p.Ser72Leu					NFYA_uc003opp.2_Missense_Mutation_p.S43L|NFYA_uc003opq.2_Missense_Mutation_p.S43L	p.S72L	NM_002505	NP_002496	P23511	NFYA_HUMAN			4	393	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		72			Gln-rich.		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	c.215C>T	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265671	0.80358	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.56769	1.78	0.58432	D	0.999998	P;P	0.51449	0.945;0.909	P;P	0.54965	0.765;0.587	T	0.64394	-0.6418	9	0.59425	D	0.04	-7.8967	15.554	0.76177	0.139:0.861:0.0:0.0	.	43;72	P23511-2;P23511	.;NFYA_HUMAN	L	72;43	.	ENSP00000345702:S72L	S	+	2	0	NFYA	41159815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.760000	0.85248	1.550000	0.49438	0.650000	0.86243	TCA		0.453	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1				10	58	0	0	0	0.010729	0	10	58		
GSTA1	2938	broad.mit.edu	37	6	52659018	52659018	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52659018G>C	ENST00000334575.5	-	5	474	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	107	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GGCAGAAGGAGGATCATTTCA	0.378																																						uc003paz.2		NaN																	0				ovary(1)	1						c.(319-321)CTC>GTC		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						169.0	160.0	163.0					6																	52659018		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659018G>C		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.319C>G	6.37:g.52659018G>C	ENSP00000335620:p.Leu107Val						p.L107V	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	431	-	Lung NSC(77;0.118)		107			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.319C>G	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	g	8.352	0.831210	0.16820	.	.	ENSG00000243955	ENST00000334575	T	0.01981	4.52	2.58	-5.17	0.02849	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.288302	0.34178	N	0.004198	T	0.00637	0.0021	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44019	-0.9355	10	0.59425	D	0.04	.	6.0886	0.19980	0.1314:0.0:0.2155:0.6531	.	107	P08263	GSTA1_HUMAN	V	107	ENSP00000335620:L107V	ENSP00000335620:L107V	L	-	1	0	GSTA1	52766977	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.315000	0.02713	-1.080000	0.03109	0.195000	0.17529	CTC		0.378	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1				20	83	0	0	0	0.008871	0	20	83		
GSTA5	221357	broad.mit.edu	37	6	52701126	52701126	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52701126A>C	ENST00000370989.2	-	3	209	c.180T>G	c.(178-180)atT>atG	p.I60M	GSTA5_ENST00000284562.2_Missense_Mutation_p.I60M|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	60	GST N-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)	TCATCCCGTCAATCTCAACCA	0.433																																						uc003pba.1		NaN																	0				ovary(1)	1						c.(178-180)ATT>ATG		glutathione S-transferase alpha 5	Glutathione(DB00143)						123.0	121.0	122.0					6																	52701126		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701126A>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.180T>G	6.37:g.52701126A>C	ENSP00000360028:p.Ile60Met						p.I60M	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	250	-	Lung NSC(77;0.0912)		60			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.180T>G	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.332635	0.24167	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.07908	3.15;3.15	2.63	-0.164	0.13359	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.55103	1.725	0.37281	D	0.907854	P	0.37955	0.612	P	0.47645	0.553	T	0.40997	-0.9533	10	0.40728	T	0.16	.	1.1065	0.01695	0.3219:0.1694:0.3428:0.1658	.	60	Q7RTV2	GSTA5_HUMAN	M	60	ENSP00000360028:I60M;ENSP00000284562:I60M	ENSP00000284562:I60M	I	-	3	3	GSTA5	52809085	0.000000	0.05858	0.982000	0.44146	0.708000	0.40852	-2.304000	0.01134	-0.146000	0.11274	0.172000	0.16884	ATT		0.433	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1		NM_153699		13	72	0	0	0	0.016723	0	13	72		
TINAG	27283	broad.mit.edu	37	6	54173466	54173466	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:54173466A>C	ENST00000259782.4	+	1	214	c.118A>C	c.(118-120)Acc>Ccc	p.T40P	TINAG_ENST00000370864.3_Missense_Mutation_p.T22P|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.T36P	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	40					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAGGAATCACACCGTTTTGCA	0.398																																						uc003pcj.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(118-120)ACC>CCC		tubulointerstitial nephritis antigen							133.0	124.0	127.0					6																	54173466		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173466A>C	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.118A>C	6.37:g.54173466A>C	ENSP00000259782:p.Thr40Pro					TINAG_uc003pci.2_Missense_Mutation_p.T40P|TINAG_uc010jzt.2_RNA	p.T40P	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	264	+	Lung NSC(77;0.0518)		40					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.118A>C	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	8.093	0.774946	0.16051	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.66815	1.86;-0.23;1.83	5.88	4.71	0.59529	.	0.260953	0.32785	N	0.005644	T	0.37348	0.1000	L	0.60455	1.87	0.22457	N	0.999088	P;B	0.43169	0.8;0.437	B;B	0.32289	0.143;0.132	T	0.18650	-1.0330	10	0.38643	T	0.18	.	9.4086	0.38477	0.8416:0.0:0.0:0.1584	.	40;40	Q9UJW2;Q7Z477	TINAG_HUMAN;.	P	36;40;40;22	ENSP00000359906:T36P;ENSP00000259782:T40P;ENSP00000359901:T22P	ENSP00000259782:T40P	T	+	1	0	TINAG	54281425	0.008000	0.16893	0.643000	0.29450	0.044000	0.14063	2.129000	0.42055	1.041000	0.40125	-0.403000	0.06358	ACC		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1		NM_014464		22	46	0	0	0	0.016522	0	22	46		
ENPP1	5167	broad.mit.edu	37	6	132207839	132207839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:132207839G>A	ENST00000360971.2	+	24	2602	c.2582G>A	c.(2581-2583)aGg>aAg	p.R861K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	861	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCCTCACAGGACTGATAAC	0.388																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2581-2583)AGG>AAG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						126.0	115.0	119.0					6																	132207839		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132207839G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2582G>A	6.37:g.132207839G>A	ENSP00000354238:p.Arg861Lys						p.R861K	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	24	2602	+	Breast(56;0.0505)		861			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2582G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280038	0.59758	.	.	ENSG00000197594	ENST00000360971	T	0.64438	-0.1	5.62	3.79	0.43588	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.152844	0.56097	N	0.000035	T	0.44767	0.1309	L	0.53561	1.675	0.49130	D	0.999754	B	0.28378	0.209	B	0.34385	0.181	T	0.51505	-0.8697	10	0.46703	T	0.11	-12.475	11.2043	0.48760	0.0699:0.1275:0.8026:0.0	.	861	P22413	ENPP1_HUMAN	K	861	ENSP00000354238:R861K	ENSP00000354238:R861K	R	+	2	0	ENPP1	132249532	1.000000	0.71417	0.991000	0.47740	0.681000	0.39784	5.098000	0.64548	1.394000	0.46624	0.655000	0.94253	AGG		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2				16	40	0	0	0	0.008871	0	16	40		
PBOV1	59351	broad.mit.edu	37	6	138539184	138539184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:138539184G>C	ENST00000527246.2	-	1	443	c.349C>G	c.(349-351)Cta>Gta	p.L117V	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	117						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCCAGACCTAGGGTCTGAGTT	0.388																																						uc003qhv.2		NaN																	0					0						c.(349-351)CTA>GTA		prostate and breast cancer overexpressed 1							158.0	159.0	159.0					6																	138539184		2203	4300	6503	SO:0001583	missense	59351					cytoplasm|nucleus		g.chr6:138539184G>C	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.349C>G	6.37:g.138539184G>C	ENSP00000432353:p.Leu117Val					KIAA1244_uc003qhu.2_Intron	p.L117V	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)	1	444	-	Breast(32;0.135)		117						Missense_Mutation	SNP	ENST00000527246.2	37	c.349C>G	CCDS5190.1	.	.	.	.	.	.	.	.	.	.	G	1.556	-0.537828	0.04082	.	.	ENSG00000254440	ENST00000527246	T	0.42513	0.97	2.04	-0.137	0.13469	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	P	0.51945	0.685	T	0.05666	-1.0871	9	0.87932	D	0	.	4.0548	0.09811	0.5149:0.0:0.4851:0.0	.	117	Q9GZY1	PBOV1_HUMAN	V	117	ENSP00000432353:L117V	ENSP00000432353:L117V	L	-	1	2	PBOV1	138580877	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.020000	0.13466	-0.066000	0.12998	0.563000	0.77884	CTA		0.388	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392617.1		NM_021635		9	34	0	0	0	0.010729	0	9	34		
TCP1	6950	broad.mit.edu	37	6	160210477	160210477	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:160210477G>A	ENST00000321394.7	-	1	304	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TCP1_ENST00000544255.1_5'UTR|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000420894.2_Silent_p.F8F|TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000392168.2_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	8					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGCGGTCACCGAACACGGACA	0.677																																						uc003qsr.2		NaN																	0				breast(1)	1						c.(22-24)TTC>TTT		T-complex protein 1 isoform a							52.0	47.0	49.0					6																	160210477		2203	4300	6503	SO:0001819	synonymous_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160210477G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.24C>T	6.37:g.160210477G>A						TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Silent_p.F8F|TCP1_uc003qst.2_5'UTR|TCP1_uc010kka.1_RNA|MRPL18_uc010kkb.2_5'Flank|MRPL18_uc003qsw.3_5'Flank	p.F8F	NM_030752	NP_110379	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	1	259	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	8					E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	c.24C>T	CCDS5269.1																																																																																				0.677	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2		NM_030752		11	59	0	0	0	0.016723	0	11	59		
PDE10A	10846	broad.mit.edu	37	6	165746546	165746546	+	Missense_Mutation	SNP	C	C	T	rs549106980		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:165746546C>T	ENST00000366882.1	-	23	2462	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	PDE10A_ENST00000539869.2_Missense_Mutation_p.V780M|PDE10A_ENST00000354448.4_Missense_Mutation_p.V770M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	770					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTCTGAGCCACGGATGGGGAT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18791	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NaN																	0				ovary(3)|skin(2)	5						c.(2308-2310)GTG>ATG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						147.0	133.0	138.0					6																	165746546		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165746546C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2308G>A	6.37:g.165746546C>T	ENSP00000355847:p.Val770Met					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V700M|PDE10A_uc003quo.2_Missense_Mutation_p.V780M	p.V770M	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	23	2549	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	770					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2308G>A		.	.	.	.	.	.	.	.	.	.	C	4.827	0.153708	0.09185	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.71222	-0.55;-0.55	3.2	-0.376	0.12505	.	7.719400	0.00166	N	0.000000	T	0.27489	0.0675	N	0.14661	0.345	0.09310	N	1	B;B	0.27882	0.131;0.192	B;B	0.23574	0.01;0.047	T	0.20207	-1.0282	10	0.46703	T	0.11	.	1.253	0.01986	0.1283:0.3208:0.2397:0.3112	.	780;770	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	770;798;780;770;769	ENSP00000355847:V770M;ENSP00000346435:V770M	ENSP00000341187:V780M	V	-	1	0	PDE10A	165666536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.150000	0.03178	0.103000	0.17682	-0.345000	0.07892	GTG		0.498	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1				21	113	0	0	0	0.004656	0	21	113		
MLLT4	4301	broad.mit.edu	37	6	168272964	168272964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:168272964C>G	ENST00000447894.2	+	4	485	c.485C>G	c.(484-486)tCa>tGa	p.S162*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S162*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.S162*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S161*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S162*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S161*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S162*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	162					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAACTCTCTCaaagaaagaa	0.388			T	MLL	AL																																	uc003qwd.2		NaN		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(481-483)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia							81.0	86.0	84.0					6																	168272964		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168272964C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.485C>G	6.37:g.168272964C>G	ENSP00000404595:p.Ser162*					MLLT4_uc003qwb.1_Nonsense_Mutation_p.S161*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S162*	p.S161*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	4	624	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	162			Potential.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.482C>G		.	.	.	.	.	.	.	.	.	.	C	36	5.897176	0.97081	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-26.7986	19.783	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	X	162;162;162;162;162;161;162;163;161;162	.	ENSP00000345834:S162X	S	+	2	0	MLLT4	168015813	1.000000	0.71417	0.894000	0.35097	0.973000	0.67179	6.952000	0.75989	2.752000	0.94435	0.467000	0.42956	TCA		0.388	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936		7	32	0	0	0	0.00308	0	7	32		
TTYH3	80727	broad.mit.edu	37	7	2687635	2687635	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:2687635C>G	ENST00000258796.7	+	5	874	c.669C>G	c.(667-669)atC>atG	p.I223M	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.I52M|TTYH3_ENST00000407643.1_Intron	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	223					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACGTCATCATCTGCCTCCTGG	0.701																																						uc003smp.2		NaN																	0					0						c.(667-669)ATC>ATG		tweety 3							110.0	93.0	99.0					7																	2687635		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687635C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.669C>G	7.37:g.2687635C>G	ENSP00000258796:p.Ile223Met					TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.I52M	p.I223M	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	856	+		Ovarian(82;0.0112)	223			Helical; Name=3; (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.669C>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533423	0.27387	.	.	ENSG00000136295	ENST00000258796;ENST00000403167	T;T	0.16324	2.35;2.35	4.34	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.82630	2.6	0.45777	D	0.998664	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.09662	-1.0664	10	0.54805	T	0.06	.	7.2167	0.25963	0.2006:0.6355:0.0:0.1638	.	52;223	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	M	223;52	ENSP00000258796:I223M;ENSP00000385015:I52M	ENSP00000258796:I223M	I	+	3	3	TTYH3	2654161	0.999000	0.42202	0.998000	0.56505	0.274000	0.26718	0.759000	0.26461	0.397000	0.25310	-1.134000	0.01955	ATC		0.701	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2		XM_166523		31	158	0	0	0	0.00874	0	31	158		
ZDHHC4	55146	broad.mit.edu	37	7	6624725	6624725	+	Missense_Mutation	SNP	G	G	C	rs141408179	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:6624725G>C	ENST00000396706.2	+	7	1018	c.575G>C	c.(574-576)aGg>aCg	p.R192T	ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R192T|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R192T|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R192T|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R192T|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R192T			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	192						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGAACATCAGGTACTTCCTC	0.537																																						uc003sqi.2		NaN																	0				breast(1)|pancreas(1)	2						c.(574-576)AGG>ACG		zinc finger, DHHC-type containing 4		G	THR/ARG,THR/ARG,THR/ARG,THR/ARG	2,4404	4.2+/-10.8	0,2,2201	211.0	136.0	161.0		575,575,575,575	4.5	1.0	7	dbSNP_134	161	6,8594	5.0+/-18.6	0,6,4294	no	missense,missense,missense,missense	ZDHHC4	NM_001134387.1,NM_001134388.1,NM_001134389.1,NM_018106.3	71,71,71,71	0,8,6495	CC,CG,GG		0.0698,0.0454,0.0615	benign,benign,benign,benign	192/345,192/345,192/345,192/345	6624725	8,12998	2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6624725G>C	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.575G>C	7.37:g.6624725G>C	ENSP00000379934:p.Arg192Thr					ZDHHC4_uc003sql.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R192T	p.R192T	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	933	+		Ovarian(82;0.232)	192			DHHC-type.		A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.575G>C	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.372636	0.82573	4.54E-4	6.98E-4	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.37	4.48	0.54585	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.147803	0.53938	D	0.000047	T	0.48277	0.1491	M	0.87617	2.895	0.49130	D	0.999757	D	0.58970	0.984	P	0.56960	0.81	T	0.54827	-0.8235	10	0.72032	D	0.01	-26.7245	11.4461	0.50125	0.0874:0.0:0.9126:0.0	.	192	Q9NPG8	ZDHC4_HUMAN	T	192	ENSP00000385027:R192T;ENSP00000379941:R192T;ENSP00000379935:R192T;ENSP00000337475:R192T;ENSP00000379937:R192T;ENSP00000379934:R192T	ENSP00000337475:R192T	R	+	2	0	ZDHHC4	6591250	0.860000	0.29831	0.961000	0.40146	0.998000	0.95712	2.337000	0.43947	2.684000	0.91462	0.655000	0.94253	AGG		0.537	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3		NM_018106		12	61	0	0	0	0.003163	0	12	61		
SCIN	85477	broad.mit.edu	37	7	12668812	12668812	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:12668812C>G	ENST00000297029.5	+	9	1385	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	SCIN_ENST00000445618.2_Silent_p.L181L|SCIN_ENST00000519209.1_Silent_p.L181L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	428	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCATACTCTACACCTATC	0.418																																						uc003ssn.3		NaN																	0				ovary(2)	2						c.(1282-1284)CTC>CTG		scinderin isoform 1							163.0	155.0	157.0					7																	12668812		1905	4128	6033	SO:0001819	synonymous_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12668812C>G	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1284C>G	7.37:g.12668812C>G						SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Silent_p.L181L	p.L428L	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	9	1494	+			428			Ca(2+)-dependent actin binding.|Gelsolin-like 4.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	c.1284C>G	CCDS47545.1																																																																																				0.418	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1		NM_033128		24	98	0	0	0	0.009535	0	24	98		
YAE1D1	57002	broad.mit.edu	37	7	39612143	39612143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:39612143G>C	ENST00000223273.2	+	3	562	c.519G>C	c.(517-519)aaG>aaC	p.K173N	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	173																	ACTGTAGCAAGAGCCATAGTG	0.393																																						uc003thc.3		NaN																	0					0						c.(517-519)AAG>AAC		hypothetical protein LOC57002							105.0	105.0	105.0					7																	39612143		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612143G>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.519G>C	7.37:g.39612143G>C	ENSP00000223273:p.Lys173Asn						p.K173N	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			3	528	+			173					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.519G>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742382	0.15642	.	.	ENSG00000241127	ENST00000223273	T	0.45276	0.9	5.85	3.99	0.46301	.	0.682414	0.15864	N	0.240879	T	0.31888	0.0811	L	0.40543	1.245	0.09310	N	0.999998	B	0.09022	0.002	B	0.09377	0.004	T	0.22487	-1.0215	10	0.46703	T	0.11	-0.5435	6.6775	0.23102	0.0696:0.1287:0.6683:0.1335	.	173	Q9NRH1	CG036_HUMAN	N	173	ENSP00000223273:K173N	ENSP00000223273:K173N	K	+	3	2	C7orf36	39578668	0.000000	0.05858	0.368000	0.25939	0.610000	0.37248	0.299000	0.19138	0.767000	0.33267	0.655000	0.94253	AAG		0.393	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1		NM_020192		13	100	0	0	0	0.020292	0	13	100		
PSPH	5723	broad.mit.edu	37	7	56082826	56082826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:56082826C>T	ENST00000395471.3	-	7	1265	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	PSPH_ENST00000275605.3_Missense_Mutation_p.E154K|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	154					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCACCAGATTCAGCTGTTGGC	0.363																																						uc003trg.2		NaN																	0				ovary(1)|skin(1)	2						c.(460-462)GAA>AAA		phosphoserine phosphatase							54.0	57.0	56.0					7																	56082826		2202	4300	6502	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56082826C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.460G>A	7.37:g.56082826C>T	ENSP00000378854:p.Glu154Lys					PSPH_uc003trh.2_Missense_Mutation_p.E154K|PSPH_uc003tri.2_Missense_Mutation_p.E154K|PSPH_uc003trj.2_Missense_Mutation_p.E183K	p.E154K	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	823	-	Breast(14;0.214)		154					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.460G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682984	0.29872	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.83591	-1.74;-1.74;-1.74	5.59	4.72	0.59763	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.149781	0.64402	D	0.000018	T	0.68705	0.3030	N	0.11818	0.18	0.54753	D	0.999987	B;B	0.13594	0.008;0.001	B;B	0.09377	0.004;0.004	T	0.62348	-0.6873	10	0.22706	T	0.39	-28.1006	13.8727	0.63629	0.0:0.9266:0.0:0.0734	.	154;154	Q53EY1;P78330	.;SERB_HUMAN	K	154	ENSP00000275605:E154K;ENSP00000378854:E154K;ENSP00000398653:E154K	ENSP00000275605:E154K	E	-	1	0	PSPH	56050320	1.000000	0.71417	0.841000	0.33234	0.218000	0.24690	4.709000	0.61867	1.376000	0.46267	-0.191000	0.12829	GAA		0.363	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1		NM_004577		7	37	0	0	0	0.001984	0	7	37		
SEMA3D	223117	broad.mit.edu	37	7	84671545	84671545	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:84671545G>C	ENST00000284136.6	-	8	961	c.918C>G	c.(916-918)gcC>gcG	p.A306A	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	306	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAATCAGTCTGGCCTTAAGAA	0.383																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(916-918)GCC>GCG		semaphorin 3D precursor							288.0	267.0	274.0					7																	84671545		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671545G>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.918C>G	7.37:g.84671545G>C						SEMA3D_uc010led.2_Silent_p.A306A|SEMA3D_uc003uib.2_5'Flank	p.A306A	NM_152754	NP_689967	O95025	SEM3D_HUMAN			8	958	-			306			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.918C>G	CCDS34676.1																																																																																				0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		65	81	0	0	0	0.01441	0	65	81		
PTCD1	26024	broad.mit.edu	37	7	99022928	99022928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99022928C>G	ENST00000292478.4	-	6	1477	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.K458N|PTCD1_ENST00000555673.1_Missense_Mutation_p.K458N	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	409					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGTTGGGCCTTGCCGGGCA	0.637																																						uc003uqh.2		NaN																	0				ovary(1)	1						c.(1225-1227)AAG>AAC		pentatricopeptide repeat domain 1							109.0	107.0	108.0					7																	99022928		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022928C>G	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1227G>C	7.37:g.99022928C>G	ENSP00000292478:p.Lys409Asn					PTCD1_uc011kiw.1_Missense_Mutation_p.K458N	p.K409N	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1358	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		409					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1227G>C	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	4.210	0.037781	0.08148	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.65732	-0.16;-0.17;-0.17	5.72	4.85	0.62838	.	0.988948	0.08279	N	0.970259	T	0.52565	0.1742	L	0.57536	1.79	0.09310	N	1	P;P	0.38767	0.646;0.514	B;B	0.35931	0.214;0.046	T	0.47471	-0.9115	10	0.22109	T	0.4	-16.4549	2.4802	0.04585	0.2463:0.4825:0.1252:0.1461	.	458;409	G3V325;O75127	.;PTCD1_HUMAN	N	409;191;458;458	ENSP00000292478:K409N;ENSP00000450995:K458N;ENSP00000400168:K458N	ENSP00000400168:K458N	K	-	3	2	ATP5J2-PTCD1;PTCD1	98860864	0.003000	0.15002	0.313000	0.25210	0.108000	0.19459	1.204000	0.32296	1.418000	0.47098	0.561000	0.74099	AAG		0.637	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1		NM_015545		32	107	0	0	0	0.006999	0	32	107		
ZSCAN25	221785	broad.mit.edu	37	7	99220228	99220228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99220228G>C	ENST00000394152.2	+	6	973	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E216Q|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	216					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGAGACCAAGAGATGGCAGC	0.532																																						uc003url.1		NaN																	0				ovary(2)	2						c.(646-648)GAG>CAG		zinc finger and SCAN domain containing 25							101.0	101.0	101.0					7																	99220228		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99220228G>C	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.646G>C	7.37:g.99220228G>C	ENSP00000377708:p.Glu216Gln					ZNF498_uc003urm.1_Missense_Mutation_p.E52Q|ZNF498_uc010lge.1_Missense_Mutation_p.E52Q|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_5'UTR	p.E216Q	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			6	973	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		216					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.646G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259883	0.39995	.	.	ENSG00000197037	ENST00000394152;ENST00000334715	T;T	0.09350	2.99;2.99	4.92	4.92	0.64577	.	0.263788	0.27311	N	0.019949	T	0.08179	0.0204	N	0.16368	0.405	0.80722	D	1	P	0.35155	0.487	B	0.34991	0.193	T	0.31223	-0.9951	10	0.44086	T	0.13	-16.7338	14.3556	0.66735	0.0:0.0:1.0:0.0	.	216	Q6NSZ9	ZN498_HUMAN	Q	216	ENSP00000377708:E216Q;ENSP00000334800:E216Q	ENSP00000334800:E216Q	E	+	1	0	ZNF498	99058164	0.998000	0.40836	1.000000	0.80357	0.406000	0.30931	2.404000	0.44539	2.659000	0.90383	0.655000	0.94253	GAG		0.532	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4		NM_145115		30	85	0	0	0	0.007291	0	30	85		
ZSCAN25	221785	broad.mit.edu	37	7	99227017	99227017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227017G>A	ENST00000394152.2	+	8	1336	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E337K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E265K|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	337					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E337K(1)									CCTGCCTGACGAAGTCAAAAC	0.632																																						uc003url.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(1009-1011)GAA>AAA		zinc finger and SCAN domain containing 25							56.0	49.0	51.0					7																	99227017		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99227017G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1009G>A	7.37:g.99227017G>A	ENSP00000377708:p.Glu337Lys					ZNF498_uc003urm.1_Missense_Mutation_p.E173K|ZNF498_uc010lge.1_Missense_Mutation_p.E173K|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.E265K|ZNF498_uc003uro.1_Missense_Mutation_p.E121K	p.E337K	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1336	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		337					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1009G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	0.355	-0.942440	0.02322	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08370	3.14;3.14;3.1	3.89	2.98	0.34508	.	0.610047	0.14670	N	0.305382	T	0.04272	0.0118	N	0.11756	0.17	0.19575	N	0.999963	B;B	0.25743	0.133;0.082	B;B	0.19666	0.026;0.012	T	0.41378	-0.9512	10	0.09338	T	0.73	-13.4289	10.2562	0.43399	0.1013:0.0:0.8987:0.0	.	265;337	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	337;337;265	ENSP00000377708:E337K;ENSP00000334800:E337K;ENSP00000262941:E265K	ENSP00000262941:E265K	E	+	1	0	ZNF498	99064953	0.002000	0.14202	0.453000	0.27007	0.191000	0.23601	0.992000	0.29667	1.178000	0.42870	0.561000	0.74099	GAA		0.632	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4		NM_145115		13	32	0	0	0	0.003163	0	13	32		
ZSCAN25	221785	broad.mit.edu	37	7	99227062	99227062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227062G>T	ENST00000394152.2	+	8	1381	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	ZSCAN25_ENST00000334715.3_Nonsense_Mutation_p.E352*|ZSCAN25_ENST00000262941.6_Nonsense_Mutation_p.E280*|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	352					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCAGTGCCCTGAGTGTGGGAA	0.587																																						uc003url.1		NaN																	0				ovary(2)	2						c.(1054-1056)GAG>TAG		zinc finger and SCAN domain containing 25							66.0	59.0	61.0					7																	99227062		2203	4300	6503	SO:0001587	stop_gained	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99227062G>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1054G>T	7.37:g.99227062G>T	ENSP00000377708:p.Glu352*					ZNF498_uc003urm.1_Nonsense_Mutation_p.E188*|ZNF498_uc010lge.1_Nonsense_Mutation_p.E188*|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Nonsense_Mutation_p.E280*|ZNF498_uc003uro.1_Nonsense_Mutation_p.E136*	p.E352*	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1381	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		352			C2H2-type 1.		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Nonsense_Mutation	SNP	ENST00000394152.2	37	c.1054G>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483367	0.63962	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	.	.	.	3.89	3.89	0.44902	.	0.000000	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.3432	7.5921	0.28027	0.1122:0.0:0.8878:0.0	.	.	.	.	X	352;352;280	.	ENSP00000262941:E280X	E	+	1	0	ZNF498	99064998	0.001000	0.12720	0.946000	0.38457	0.951000	0.60555	0.521000	0.22893	2.454000	0.82982	0.561000	0.74099	GAG		0.587	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4		NM_145115		13	44	1	0	1.5842e-08	0.016723	1.78669e-08	13	44		
MUC17	140453	broad.mit.edu	37	7	100684992	100684992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:100684992C>G	ENST00000306151.4	+	3	10359	c.10295C>G	c.(10294-10296)aCt>aGt	p.T3432S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3432	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGTGACCACTTCTACTGAA	0.488																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10294-10296)ACT>AGT		mucin 17 precursor							229.0	238.0	235.0					7																	100684992		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684992C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10295C>G	7.37:g.100684992C>G	ENSP00000302716:p.Thr3432Ser					MUC17_uc010lho.1_RNA	p.T3432S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10348	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3432			Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10295C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	6.030	0.373867	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.52	-0.851	0.10716	.	.	.	.	.	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	D	0.68483	0.958	T	0.45716	-0.9242	9	0.21540	T	0.41	.	5.7807	0.18304	0.0:0.6649:0.0:0.3351	.	3432	Q685J3	MUC17_HUMAN	S	3432	ENSP00000302716:T3432S	ENSP00000302716:T3432S	T	+	2	0	MUC17	100471712	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.089000	0.15002	-0.542000	0.06249	-1.133000	0.01973	ACT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		4	286	0	0	0	0.001168	0	4	286		
CNTNAP2	26047	broad.mit.edu	37	7	147600711	147600711	+	Nonsense_Mutation	SNP	G	G	A	rs398124268		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:147600711G>A	ENST00000361727.3	+	14	2669	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	718	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)			CACTACTACTGGGGAGGCTCT	0.507										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2152-2154)TGG>TAG		cell recognition molecule Caspr2 precursor							73.0	66.0	68.0					7																	147600711		2203	4300	6503	SO:0001587	stop_gained	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.chr7:147600711G>A	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.2153G>A	7.37:g.147600711G>A	ENSP00000354778:p.Trp718*	HNSCC(39;0.1)					p.W718*	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2669	+	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)	718			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.2153G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754699	0.89843	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	X	718;109	.	ENSP00000354778:W718X	W	+	2	0	CNTNAP2	147231644	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	9.756000	0.98918	2.700000	0.92200	0.563000	0.77884	TGG		0.507	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				4	25	0	0	0	0.001168	0	4	25		
SSPO	23145	broad.mit.edu	37	7	149489422	149489422	+	RNA	SNP	G	G	A	rs542037603		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:149489422G>A	ENST00000378016.2	+	0	5575							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGCAGCGAGGGGTGGTG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15593	0.001		0.0	False		,,,				2504	0.0					uc010lpk.2		NaN																	0					0						c.(5575-5577)GAG>AAG		SCO-spondin precursor							13.0	20.0	18.0					7																	149489422		2041	4191	6232			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489422G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489422G>A							p.E1859K	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		38	5575	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1859			EGF-like 1.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5575G>A																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					5	9	0	0	0	0.00308	0	5	9		
UBE3C	9690	broad.mit.edu	37	7	157000422	157000422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:157000422G>C	ENST00000348165.5	+	13	1962	c.1602G>C	c.(1600-1602)atG>atC	p.M534I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	534					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AATCATCAATGATGCCTTTTA	0.373																																						uc010lqs.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)	5						c.(1600-1602)ATG>ATC		ubiquitin protein ligase E3C							107.0	103.0	104.0					7																	157000422		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000422G>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1602G>C	7.37:g.157000422G>C	ENSP00000309198:p.Met534Ile					UBE3C_uc003wng.2_Missense_Mutation_p.M534I	p.M534I	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	13	1914	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	534					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1602G>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653469	0.29425	.	.	ENSG00000009335	ENST00000348165	T	0.39406	1.08	5.46	5.46	0.80206	.	0.035117	0.85682	D	0.000000	T	0.39489	0.1080	L	0.45137	1.4	0.80722	D	1	B;B	0.24576	0.0;0.106	B;B	0.20577	0.001;0.03	T	0.12477	-1.0546	10	0.35671	T	0.21	.	19.2903	0.94096	0.0:0.0:1.0:0.0	.	534;534	Q15386;Q15386-2	UBE3C_HUMAN;.	I	534	ENSP00000309198:M534I	ENSP00000309198:M534I	M	+	3	0	UBE3C	156693183	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	8.834000	0.92094	2.556000	0.86216	0.655000	0.94253	ATG		0.373	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1		NM_014671		8	46	0	0	0	0.008291	0	8	46		
CHRNB3	1142	broad.mit.edu	37	8	42586933	42586933	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:42586933G>T	ENST00000289957.2	+	5	611	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	161					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CGTTTTTCCCGTTCGACCGAC	0.488																																						uc003xpi.1		NaN																	0				ovary(1)	1						c.(481-483)CCG>CCT		cholinergic receptor, nicotinic, beta							68.0	53.0	58.0					8																	42586933		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42586933G>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.483G>T	8.37:g.42586933G>T							p.P161P	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	611	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	161			Extracellular (Potential).		Q15827	Silent	SNP	ENST00000289957.2	37	c.483G>T	CCDS6134.1																																																																																				0.488	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1				3	41	1	0	0.00024832	0.009096	0.000267011	3	41		
PRKDC	5591	broad.mit.edu	37	8	48846651	48846651	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:48846651C>G	ENST00000523565.1	-	15	1554		c.e15-1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTCAGGGCCCTGGCCAGAAA	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.e15-1	NHEJ	protein kinase, DNA-activated, catalytic							117.0	111.0	113.0					8																	48846651		1894	4106	6000	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48846651C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.11955-1G>C	8.37:g.48846651C>G						PRKDC_uc003xqj.2_Splice_Site_p.G500_splice|PRKDC_uc011ldh.1_Splice_Site_p.G500_splice	p.G500_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN			15	1555	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)						P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37	c.1498_splice		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785249	0.31593	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3222	0.21225	0.0:0.808:0.0:0.192	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	49009204	0.982000	0.34865	0.662000	0.29724	0.036000	0.12997	1.609000	0.36858	2.583000	0.87209	0.557000	0.71058	.		0.473	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1		NM_001081640	Intron	3	159	0	0	0	0.009096	0	3	159		
MSC	9242	broad.mit.edu	37	8	72755904	72755904	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:72755904G>A	ENST00000325509.4	-	1	799	c.510C>T	c.(508-510)aaC>aaT	p.N170N	RP11-383H13.1_ENST00000537896.1_Missense_Mutation_p.V90I|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	170					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCACGTAGCCGTTCTCATAGC	0.662											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyx.1		NaN																	0					0						c.(508-510)AAC>AAT		musculin							37.0	40.0	39.0					8																	72755904		2202	4299	6501	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72755904G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.510C>T	8.37:g.72755904G>A			OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	uc011lff.1_RNA|uc003xyy.2_5'Flank	p.N170N	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	828	-	Breast(64;0.176)		170					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.510C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511860	0.44660	.	.	ENSG00000235531	ENST00000537896	.	.	.	5.07	0.943	0.19531	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63051	-0.6723	5	0.87932	D	0	.	8.7707	0.34731	0.3947:0.0:0.6053:0.0	.	.	.	.	I	90	.	ENSP00000440866:V90I	V	+	1	0	RP11-383H13.1	72918458	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	0.887000	0.28254	0.117000	0.18138	0.555000	0.69702	GTT		0.662	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1		NM_005098		22	85	0	0	0	0.021523	0	22	85		
CDH17	1015	broad.mit.edu	37	8	95186397	95186397	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:95186397G>A	ENST00000027335.3	-	6	640	c.516C>T	c.(514-516)ccC>ccT	p.P172P	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.P172P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTTGATCATGGGAAGCTGGA	0.488																																						uc003ygh.2		NaN																	0				ovary(5)|skin(1)	6						c.(514-516)CCC>CCT		cadherin 17 precursor							178.0	173.0	175.0					8																	95186397		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95186397G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.516C>T	8.37:g.95186397G>A						CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.P172P	p.P172P	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		6	641	-	Breast(36;4.65e-06)		172			Extracellular (Potential).|Cadherin 2.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.516C>T	CCDS6260.1																																																																																				0.488	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1		NM_004063		37	340	0	0	0	0.00623	0	37	340		
RGS22	26166	broad.mit.edu	37	8	101078419	101078419	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101078419A>C	ENST00000360863.6	-	7	894	c.700T>G	c.(700-702)Tca>Gca	p.S234A	RGS22_ENST00000523437.1_Missense_Mutation_p.S222A|RGS22_ENST00000523287.1_Missense_Mutation_p.S53A	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	234					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATAGCTGGTGATTTAAGTTTG	0.338																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(700-702)TCA>GCA		regulator of G-protein signaling 22							145.0	137.0	140.0					8																	101078419		1838	4094	5932	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101078419A>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.700T>G	8.37:g.101078419A>C	ENSP00000354109:p.Ser234Ala					RGS22_uc003yja.1_Missense_Mutation_p.S53A|RGS22_uc003yjc.1_Missense_Mutation_p.S222A|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.S234A	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		7	895	-			234					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.700T>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514436	0.44763	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.35236	1.39;1.32;1.38	4.75	-4.12	0.03916	.	1.162290	0.06548	N	0.744478	T	0.25344	0.0616	L	0.59436	1.845	0.09310	N	1	B;B;B	0.28636	0.085;0.085;0.218	B;B;B	0.25291	0.039;0.039;0.059	T	0.30327	-0.9982	10	0.28530	T	0.3	.	0.6411	0.00810	0.3768:0.2118:0.2428:0.1687	.	222;234;53	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	A	234;222;53;222	ENSP00000354109:S234A;ENSP00000429382:S53A;ENSP00000428212:S222A	ENSP00000354109:S234A	S	-	1	0	RGS22	101147595	0.002000	0.14202	0.013000	0.15412	0.135000	0.20990	-0.178000	0.09782	-0.274000	0.09232	0.482000	0.46254	TCA		0.338	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		10	92	0	0	0	0.010729	0	10	92		
PABPC1	26986	broad.mit.edu	37	8	101721413	101721413	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101721413A>G	ENST00000318607.5	-	9	2412	c.1284T>C	c.(1282-1284)atT>atC	p.I428I	PABPC1_ENST00000519004.1_Silent_p.I383I|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Silent_p.I396I|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	428				I -> V (in Ref. 1; CAA68428). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTAGTTGAGCAATTTGGCTAG	0.393																																						uc003yjs.1		NaN																	0					0						c.(1282-1284)ATT>ATC		poly(A) binding protein, cytoplasmic 1							136.0	141.0	140.0					8																	101721413		2203	4300	6503	SO:0001819	synonymous_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101721413A>G	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1284T>C	8.37:g.101721413A>G						PABPC1_uc011lhc.1_Silent_p.I396I|PABPC1_uc011lhd.1_Silent_p.I383I|PABPC1_uc003yjt.1_Silent_p.I425I|PABPC1_uc003yju.2_RNA	p.I428I	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		9	1788	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		428	I -> V (in Ref. 1; CAA68428).				Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.1284T>C	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571560	0.28003	.	.	ENSG00000070756	ENST00000517403	.	.	.	5.61	4.45	0.53987	.	.	.	.	.	T	0.56499	0.1989	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54589	-0.8271	4	.	.	.	.	6.7641	0.23556	0.7356:0.1366:0.1278:0.0	.	.	.	.	S	81	.	.	L	-	2	0	PABPC1	101790589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.839000	0.39220	2.254000	0.74563	0.533000	0.62120	TTG		0.393	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568		49	280	0	0	0	0.01441	0	49	280		
ZFPM2	23414	broad.mit.edu	37	8	106813404	106813404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:106813404G>A	ENST00000407775.2	+	8	1344	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.C233Y|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.C233Y|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.C96Y|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	365					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCCTTCCGATGTAATCACTGC	0.502																																						uc003ymd.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1093-1095)TGT>TAT		zinc finger protein, multitype 2							177.0	170.0	172.0					8																	106813404		2012	4214	6226	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813404G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1094G>A	8.37:g.106813404G>A	ENSP00000384179:p.Cys365Tyr					ZFPM2_uc011lhs.1_Missense_Mutation_p.C96Y|uc003yme.1_5'Flank	p.C365Y	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1117	+			365			C2H2-type 3.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1094G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852955	0.71719	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.93420	3.415	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85394	0.1127	10	0.87932	D	0	.	19.887	0.96915	0.0:0.0:1.0:0.0	.	365	Q8WW38	FOG2_HUMAN	Y	365;233;233;96	ENSP00000384179:C365Y;ENSP00000430757:C233Y;ENSP00000428720:C233Y;ENSP00000367733:C96Y	ENSP00000367733:C96Y	C	+	2	0	ZFPM2	106882580	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	9.420000	0.97426	2.774000	0.95407	0.650000	0.86243	TGT		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1				41	344	0	0	0	0.011902	0	41	344		
CSMD3	114788	broad.mit.edu	37	8	113358438	113358438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:113358438C>G	ENST00000297405.5	-	41	6574	c.6330G>C	c.(6328-6330)caG>caC	p.Q2110H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2006H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2070H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2040H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2110						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						CACCACCACACTGAGCTGCAA	0.383										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.(6328-6330)CAG>CAC		CUB and Sushi multiple domains 3 isoform 1							97.0	96.0	96.0					8																	113358438		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358438C>G	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.6330G>C	8.37:g.113358438C>G	ENSP00000297405:p.Gln2110His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q1312H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2070H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2006H	p.Q2110H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			41	6489	-			2110			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6330G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971918	0.53614	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.44	1.75	0.24633	CUB (1);Complement control module (2);	0.000000	0.64402	D	0.000001	T	0.44180	0.1281	L	0.54965	1.715	0.41445	D	0.987943	B;B;D	0.67145	0.016;0.002;0.996	B;B;D	0.69479	0.026;0.005;0.964	T	0.17715	-1.0360	10	0.45353	T	0.12	.	9.5948	0.39567	0.0:0.6298:0.0:0.3702	.	2006;2110;2070	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2070;2110;1380;2006;2040	ENSP00000345799:Q2070H;ENSP00000297405:Q2110H;ENSP00000341558:Q1380H;ENSP00000412263:Q2006H;ENSP00000343124:Q2040H	ENSP00000297405:Q2110H	Q	-	3	2	CSMD3	113427614	0.974000	0.33945	0.999000	0.59377	0.941000	0.58515	0.172000	0.16704	0.153000	0.19213	-0.142000	0.14014	CAG		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		4	81	0	0	0	0.009096	0	4	81		
ZHX2	22882	broad.mit.edu	37	8	123963985	123963985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:123963985G>C	ENST00000314393.4	+	3	1070	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	79					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGTGGTTATGAGTGCAAATA	0.483																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1		NaN																	0				ovary(1)|skin(1)	2						c.(235-237)GAG>CAG		zinc fingers and homeoboxes 2							79.0	74.0	76.0					8																	123963985		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963985G>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.235G>C	8.37:g.123963985G>C	ENSP00000314709:p.Glu79Gln						p.E79Q	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	802	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		79			C2H2-type 1.			Missense_Mutation	SNP	ENST00000314393.4	37	c.235G>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840864	0.71488	.	.	ENSG00000178764	ENST00000314393	T	0.52983	0.64	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.78637	2.42	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.72693	-0.4216	10	0.54805	T	0.06	-20.4076	19.5336	0.95240	0.0:0.0:1.0:0.0	.	79	Q9Y6X8	ZHX2_HUMAN	Q	79	ENSP00000314709:E79Q	ENSP00000314709:E79Q	E	+	1	0	ZHX2	124033166	1.000000	0.71417	0.426000	0.26672	0.925000	0.55904	9.429000	0.97481	2.637000	0.89404	0.455000	0.32223	GAG		0.483	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1		NM_014943		7	94	0	0	0	0.006214	0	7	94		
ADCY8	114	broad.mit.edu	37	8	131848566	131848566	+	Missense_Mutation	SNP	C	C	T	rs557261841		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:131848566C>T	ENST00000286355.5	-	12	4724	c.2632G>A	c.(2632-2634)Gca>Aca	p.A878T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A747T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	878					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAGGCCTGCGTAGACGGTC	0.542										HNSCC(32;0.087)			.|||	1	0.000199681	0.0008	0.0	5008	,	,		18985	0.0		0.0	False		,,,				2504	0.0					uc003ytd.3		NaN																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2632-2634)GCA>ACA		adenylate cyclase 8							149.0	118.0	129.0					8																	131848566		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848566C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2632G>A	8.37:g.131848566C>T	ENSP00000286355:p.Ala878Thr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A747T	p.A878T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		12	2888	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		878			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2632G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	6.699	0.497668	0.12762	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79554	-1.28;-1.24	5.29	5.29	0.74685	.	0.193992	0.45361	D	0.000380	T	0.59595	0.2205	N	0.08118	0	0.27945	N	0.937384	P;D	0.56035	0.491;0.974	B;B	0.40477	0.043;0.33	T	0.55786	-0.8086	10	0.14252	T	0.57	.	11.4075	0.49906	0.0:0.9173:0.0:0.0827	.	747;878	E7EVL1;P40145	.;ADCY8_HUMAN	T	878;747	ENSP00000286355:A878T;ENSP00000367161:A747T	ENSP00000286355:A878T	A	-	1	0	ADCY8	131917748	1.000000	0.71417	0.498000	0.27564	0.134000	0.20937	3.406000	0.52637	2.471000	0.83476	0.561000	0.74099	GCA		0.542	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1				22	163	0	0	0	0.01892	0	22	163		
CYP11B2	1585	broad.mit.edu	37	8	143993439	143993439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:143993439C>G	ENST00000323110.2	-	9	1471	c.1469G>C	c.(1468-1470)aGg>aCg	p.R490T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	490					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CGTGCCAGGCCTCAATATGAA	0.562									Familial Hyperaldosteronism type I																													uc003yxk.1		NaN																	0					0						c.(1468-1470)AGG>ACG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						200.0	170.0	180.0					8																	143993439		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993439C>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1469G>C	8.37:g.143993439C>G	ENSP00000325822:p.Arg490Thr						p.R490T	NM_000498	NP_000489	P19099	C11B2_HUMAN			9	1472	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		490					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1469G>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	C	5.909	0.351883	0.11182	.	.	ENSG00000179142	ENST00000323110	T	0.68181	-0.31	2.92	-5.84	0.02318	.	0.910148	0.09114	N	0.846684	T	0.34658	0.0905	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20107	-1.0285	10	0.16896	T	0.51	.	4.308	0.10956	0.2719:0.4369:0.0:0.2911	.	490	P19099	C11B2_HUMAN	T	490	ENSP00000325822:R490T	ENSP00000325822:R490T	R	-	2	0	CYP11B2	143990441	0.000000	0.05858	0.123000	0.21794	0.008000	0.06430	-0.076000	0.11412	-0.998000	0.03446	-0.311000	0.09066	AGG		0.562	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1				14	147	0	0	0	0.006122	0	14	147		
TONSL	4796	broad.mit.edu	37	8	145665527	145665527	+	Missense_Mutation	SNP	C	C	T	rs189270359	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:145665527C>T	ENST00000409379.3	-	11	1386	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	453	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGTCTGGTTTCGGTCTCAGGG	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		17175	0.003		0.0	False		,,,				2504	0.0					uc011llg.1		NaN																	0					0						c.(1357-1359)GAA>AAA		NF-kappa-B inhibitor-like protein 2							40.0	43.0	42.0					8																	145665527		2202	4296	6498	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145665527C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1357G>A	8.37:g.145665527C>T	ENSP00000386239:p.Glu453Lys						p.E453K	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		11	1372	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		453			Glu-rich.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1357G>A	CCDS34968.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	7.736	0.700345	0.15106	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46451	0.87	5.7	1.42	0.22433	.	0.501210	0.22812	N	0.055335	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.29508	0.246	B	0.15484	0.013	T	0.15492	-1.0435	10	0.23891	T	0.37	-1.9312	10.023	0.42055	0.0:0.6659:0.0:0.3341	.	453	Q96HA7	TONSL_HUMAN	K	453	ENSP00000386239:E453K	ENSP00000386239:E453K	E	-	1	0	TONSL	145636335	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.059000	0.14322	0.367000	0.24454	-0.136000	0.14681	GAA		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432		32	112	0	0	0	0.01441	0	32	112		
PTPRD	5789	broad.mit.edu	37	9	8500765	8500765	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:8500765G>C	ENST00000381196.4	-	21	2660	c.2117C>G	c.(2116-2118)aCc>aGc	p.T706S	PTPRD_ENST00000360074.4_Missense_Mutation_p.T693S|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T693S|PTPRD_ENST00000540109.1_Missense_Mutation_p.T706S|PTPRD_ENST00000356435.5_Missense_Mutation_p.T706S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	706	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ATCTTCATTGGTTCGAATCAA	0.478										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2116-2118)ACC>AGC		protein tyrosine phosphatase, receptor type, D							184.0	164.0	171.0					9																	8500765		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.chr9:8500765G>C	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.2117C>G	9.37:g.8500765G>C	ENSP00000370593:p.Thr706Ser	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T706S|PTPRD_uc003zkm.2_Missense_Mutation_p.T693S|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.T706S	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)	23	2828	-		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)	706			Fibronectin type-III 4.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2117C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219582	0.79464	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;0.05;-0.14	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86764	0.6011	H	0.96604	3.85	0.80722	D	1	D;D;D	0.69078	0.969;0.993;0.997	P;D;D	0.68943	0.721;0.956;0.961	D	0.90514	0.4483	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	693;706;706	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	S	706;706;693;693;706	ENSP00000370593:T706S;ENSP00000348812:T706S;ENSP00000353187:T693S;ENSP00000351293:T693S;ENSP00000438164:T706S	.	T	-	2	0	PTPRD	8490765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	ACC		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				29	51	0	0	0	0.013726	0	29	51		
UBAP2	55833	broad.mit.edu	37	9	33941739	33941739	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:33941739T>C	ENST00000379238.1	-	16	1954	c.1837A>G	c.(1837-1839)Atg>Gtg	p.M613V	UBAP2_ENST00000360802.1_Missense_Mutation_p.M613V|UBAP2_ENST00000418786.2_Missense_Mutation_p.M560V|UBAP2_ENST00000379239.4_Missense_Mutation_p.M346V|UBAP2_ENST00000449054.1_Missense_Mutation_p.M613V|UBAP2_ENST00000379225.1_Missense_Mutation_p.M246V|UBAP2_ENST00000539807.1_Missense_Mutation_p.M368V					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GAGGAAGACATTGCTACTGGA	0.463																																						uc003ztq.1		NaN																	0				ovary(3)	3						c.(1837-1839)ATG>GTG		ubiquitin associated protein 2							167.0	151.0	156.0					9																	33941739		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33941739T>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1837A>G	9.37:g.33941739T>C	ENSP00000368540:p.Met613Val					UBAP2_uc011loc.1_Missense_Mutation_p.M522V|UBAP2_uc011lod.1_Missense_Mutation_p.M346V|UBAP2_uc011loe.1_Missense_Mutation_p.M368V|UBAP2_uc011lof.1_Missense_Mutation_p.M538V|UBAP2_uc011log.1_Missense_Mutation_p.M559V|UBAP2_uc003ztr.2_Missense_Mutation_p.M485V|UBAP2_uc003zts.2_Missense_Mutation_p.M246V	p.M613V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	16	1950	-			613						Missense_Mutation	SNP	ENST00000379238.1	37	c.1837A>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.642762	0.00112	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.82;2.82;2.82;2.6;2.61;2.35;2.05	5.7	0.686	0.18015	.	0.464685	0.23997	N	0.042504	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.18968	0.002;0.017;0.001;0.001;0.001;0.002;0.01;0.032	B;B;B;B;B;B;B;B	0.18561	0.006;0.0;0.006;0.006;0.006;0.0;0.0;0.022	T	0.33292	-0.9874	10	0.21540	T	0.41	1.9392	5.8431	0.18645	0.115:0.321:0.0:0.564	.	560;538;368;346;522;246;538;613	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	V	613;613;613;522;346;368;560;246	ENSP00000368540:M613V;ENSP00000416932:M613V;ENSP00000354039:M613V;ENSP00000368541:M346V;ENSP00000439329:M368V;ENSP00000404436:M560V;ENSP00000368527:M246V	ENSP00000354039:M613V	M	-	1	0	UBAP2	33931739	1.000000	0.71417	0.117000	0.21633	0.023000	0.10783	1.171000	0.31896	-0.052000	0.13311	-0.333000	0.08304	ATG		0.463	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		7	54	0	0	0	0.001984	0	7	54		
ALDH1A1	216	broad.mit.edu	37	9	75526950	75526950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:75526950C>G	ENST00000297785.3	-	10	1178	c.1124G>C	c.(1123-1125)tGg>tCg	p.W375S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	375					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTTATTCCCCCACGGGCCTCC	0.433																																						uc004ajd.2		NaN																	0				ovary(3)|lung(1)	4						c.(1123-1125)TGG>TCG		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						144.0	129.0	134.0					9																	75526950		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526950C>G	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1124G>C	9.37:g.75526950C>G	ENSP00000297785:p.Trp375Ser					ALDH1A1_uc011lsh.1_Missense_Mutation_p.W296S|ALDH1A1_uc011lsg.1_Missense_Mutation_p.W201S	p.W375S	NM_000689	NP_000680	P00352	AL1A1_HUMAN			10	1177	-			375					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1124G>C	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298510	0.23650	.	.	ENSG00000165092	ENST00000297785	T	0.74632	-0.86	5.91	4.98	0.66077	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.161256	0.45606	D	0.000358	T	0.49287	0.1548	N	0.01431	-0.87	0.80722	D	1	B;B	0.21753	0.03;0.06	B;B	0.23150	0.019;0.044	T	0.49153	-0.8969	10	0.22109	T	0.4	.	16.5327	0.84365	0.1311:0.8689:0.0:0.0	.	296;375	B4DDF8;P00352	.;AL1A1_HUMAN	S	375	ENSP00000297785:W375S	ENSP00000297785:W375S	W	-	2	0	ALDH1A1	74716770	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	2.336000	0.43938	2.813000	0.96785	0.655000	0.94253	TGG		0.433	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1				18	70	0	0	0	0.012319	0	18	70		
CDC14B	8555	broad.mit.edu	37	9	99327675	99327675	+	Splice_Site	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:99327675T>A	ENST00000375241.1	-	2	702	c.251A>T	c.(250-252)aAc>aTc	p.N84I	CDC14B_ENST00000463569.1_Splice_Site_p.N84I|CDC14B_ENST00000375240.3_Splice_Site_p.N84I|CDC14B_ENST00000265659.2_Splice_Site_p.N84I|CDC14B_ENST00000375242.3_Splice_Site_p.N47I|CDC14B_ENST00000375236.1_Splice_Site_p.N84I	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	84	A.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAATACTTACTTCTCATATTC	0.313																																						uc004awj.2		NaN																	0				ovary(1)	1						c.(250-252)AAC>ATC		CDC14 homolog B isoform 2							93.0	95.0	94.0					9																	99327675		2203	4300	6503	SO:0001630	splice_region_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99327675T>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.251+1A>T	9.37:g.99327675T>A						CDC14B_uc004awk.2_Missense_Mutation_p.N84I|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.N47I	p.N84I	NM_033331	NP_201588	O60729	CC14B_HUMAN			2	703	-		Acute lymphoblastic leukemia(62;0.0559)	84			A.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.251A>T	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.71|17.71	3.455602|3.455602	0.63401|0.63401	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000452280|ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236;ENST00000415608	T|T;T;T;T;T;T;T	0.46451|0.47528	0.87|0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.26|4.26	3.12|3.12	0.35913|0.35913	.|.	.|0.045986	.|0.85682	.|D	.|0.000000	T|T	0.59500|0.59500	0.2198|0.2198	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;0.997	.|D;D;D	.|0.81914	.|0.995;0.992;0.97	T|T	0.56523|0.56523	-0.7965|-0.7965	6|9	.|.	.|.	.|.	-1.0187|-1.0187	8.601|8.601	0.33745|0.33745	0.0:0.0944:0.0:0.9056|0.0:0.0944:0.0:0.9056	.|.	.|84;84;47	.|O60729-2;O60729;A8MQ20	.|.;CC14B_HUMAN;.	D|I	61|84;84;84;47;84;84;68	ENSP00000396951:E61D|ENSP00000265659:N84I;ENSP00000364389:N84I;ENSP00000364388:N84I;ENSP00000364390:N47I;ENSP00000420572:N84I;ENSP00000364384:N84I;ENSP00000400480:N68I	.|.	E|N	-|-	3|2	2|0	CDC14B|CDC14B	98367496|98367496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.088000|4.088000	0.57678|0.57678	0.791000|0.791000	0.33826|0.33826	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.313	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2		NM_033331	Missense_Mutation	7	40	0	0	0	0.00308	0	7	40		
ZNF483	158399	broad.mit.edu	37	9	114296106	114296106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:114296106G>T	ENST00000309235.5	+	4	747	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E197*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E197*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	197	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCTATATAAGGAAGTGCTACT	0.398																																						uc004bff.2		NaN																	0				skin(1)	1						c.(589-591)GAA>TAA		zinc finger protein 483 isoform a							98.0	106.0	103.0					9																	114296106		2203	4300	6503	SO:0001587	stop_gained	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296106G>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.589G>T	9.37:g.114296106G>T	ENSP00000311679:p.Glu197*					ZNF483_uc011lwq.1_Nonsense_Mutation_p.E197*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.E197*	p.E197*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			4	813	+			197			KRAB.		Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	ENST00000309235.5	37	c.589G>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060626	0.55432	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	3.91	3.91	0.45181	.	0.168825	0.28393	N	0.015513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.7617	7.5954	0.28046	0.1151:0.0:0.8849:0.0	.	.	.	.	X	197	.	ENSP00000311679:E197X	E	+	1	0	ZNF483	113335927	0.856000	0.29760	0.986000	0.45419	0.035000	0.12851	1.036000	0.30228	2.193000	0.70182	0.655000	0.94253	GAA		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1		XM_088567		9	29	1	0	0.000673444	0.008291	0.00071643	9	29		
GLE1	2733	broad.mit.edu	37	9	131286012	131286012	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131286012C>A	ENST00000309971.4	+	6	890	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	GLE1_ENST00000372770.4_Missense_Mutation_p.L262M|GLE1_ENST00000539582.1_Missense_Mutation_p.L8M|GLE1_ENST00000494417.1_3'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	262					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAGCCAGCAGCTGGATGCCTC	0.612																																						uc004bvj.2		NaN																	0					0						c.(784-786)CTG>ATG		GLE1 RNA export mediator homolog isoform 1							37.0	39.0	38.0					9																	131286012		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131286012C>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.784C>A	9.37:g.131286012C>A	ENSP00000308622:p.Leu262Met					GLE1_uc004bvi.2_Missense_Mutation_p.L262M|GLE1_uc010myd.2_Missense_Mutation_p.L8M	p.L262M	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN			6	898	+			262			Potential.		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.784C>A	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237693	0.58886	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;D	0.82167	-0.59;-0.18;-1.58	5.86	4.0	0.46444	.	0.137863	0.49916	D	0.000127	D	0.87767	0.6260	M	0.70275	2.135	0.41935	D	0.990589	D;D	0.76494	0.999;0.999	D;D	0.74674	0.974;0.984	D	0.85834	0.1393	10	0.49607	T	0.09	-18.4009	6.1527	0.20320	0.2252:0.6245:0.0:0.1503	.	262;262	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	M	262;262;8	ENSP00000308622:L262M;ENSP00000361856:L262M;ENSP00000438670:L8M	ENSP00000308622:L262M	L	+	1	2	GLE1	130325833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.691000	0.37721	0.798000	0.33994	0.655000	0.94253	CTG		0.612	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1		NM_001003722		8	35	1	0	1.12685e-05	0.004482	1.22484e-05	8	35		
SPTAN1	6709	broad.mit.edu	37	9	131387392	131387392	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131387392G>A	ENST00000372731.4	+	46	6098	c.5988G>A	c.(5986-5988)gaG>gaA	p.E1996E	SPTAN1_ENST00000372739.3_Silent_p.E2001E|SPTAN1_ENST00000358161.5_Silent_p.E2001E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1996					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						GTGAAAAGGAGAACAGCTTGA	0.448																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5986-5988)GAG>GAA		spectrin, alpha, non-erythrocytic 1							114.0	108.0	110.0					9																	131387392		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.chr9:131387392G>A	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.5988G>A	9.37:g.131387392G>A						SPTAN1_uc004bvm.3_Silent_p.E2001E|SPTAN1_uc004bvn.3_Silent_p.E1976E|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	p.E1996E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			46	6101	+			1996			Spectrin 21.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.5988G>A	CCDS6905.1																																																																																				0.448	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		7	48	0	0	0	0.004482	0	7	48		
TBC1D13	54662	broad.mit.edu	37	9	131553894	131553894	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131553894G>C	ENST00000372648.5	+	5	372	c.222G>C	c.(220-222)ctG>ctC	p.L74L	TBC1D13_ENST00000223865.8_Silent_p.L74L|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	74	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCAGTTCCTGAGGGAAATGA	0.577																																						uc010myj.2		NaN																	0					0						c.(220-222)CTG>CTC		TBC1 domain family, member 13							96.0	85.0	88.0					9																	131553894		2203	4300	6503	SO:0001819	synonymous_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131553894G>C	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.222G>C	9.37:g.131553894G>C						TBC1D13_uc010myk.2_Silent_p.L74L|TBC1D13_uc010myl.2_Intron	p.L74L	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			5	345	+			74			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	ENST00000372648.5	37	c.222G>C	CCDS6911.1																																																																																				0.577	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1		NM_018201		15	65	0	0	0	0.003163	0	15	65		
PNPLA7	375775	broad.mit.edu	37	9	140354928	140354928	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140354928C>A	ENST00000277531.4	-	34	4057	c.3871G>T	c.(3871-3873)Gag>Tag	p.E1291*	NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000339554.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000371457.1_Splice_Site_p.E897*|PNPLA7_ENST00000406427.1_Splice_Site_p.E1316*	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1291					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GACTCGTCCTCCTGCAAGCAG	0.637																																						uc004cnf.2		NaN																	0				skin(1)	1						c.(3871-3873)GAG>TAG		patatin-like phospholipase domain containing 7							52.0	46.0	48.0					9																	140354928		2202	4300	6502	SO:0001630	splice_region_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140354928C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3871-1G>T	9.37:g.140354928C>A						C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Nonsense_Mutation_p.E538*|PNPLA7_uc004cne.1_Nonsense_Mutation_p.E557*|PNPLA7_uc011mfa.1_Nonsense_Mutation_p.E699*|PNPLA7_uc010ncj.1_Nonsense_Mutation_p.E1316*|NELF_uc011mey.1_5'Flank|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	p.E1291*	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	34	4208	-	all_cancers(76;0.126)		1291					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Nonsense_Mutation	SNP	ENST00000277531.4	37	c.3871G>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439514	0.96168	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451	.	.	.	3.42	3.42	0.39159	.	0.589533	0.16872	N	0.196086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.3574	7.2784	0.26297	0.0:0.8701:0.0:0.1299	.	.	.	.	X	897;699;1291;1316;1228	.	ENSP00000277531:E1291X	E	-	1	0	PNPLA7	139474749	0.002000	0.14202	0.441000	0.26858	0.101000	0.19017	0.321000	0.19558	1.850000	0.53721	0.457000	0.33378	GAG		0.637	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286	Nonsense_Mutation	25	28	1	0	3.65163e-15	0.00632	4.27925e-15	25	28		
PNPLA7	375775	broad.mit.edu	37	9	140437237	140437237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140437237C>T	ENST00000277531.4	-	6	634	c.448G>A	c.(448-450)Gag>Aag	p.E150K	PNPLA7_ENST00000406427.1_Missense_Mutation_p.E175K|AL365502.1_ENST00000580317.1_RNA	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	150					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCGGCTTCTCAAAGTGGCCC	0.622																																						uc004cnf.2		NaN																	0				skin(1)	1						c.(448-450)GAG>AAG		patatin-like phospholipase domain containing 7							65.0	60.0	61.0					9																	140437237		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437237C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.448G>A	9.37:g.140437237C>T	ENSP00000277531:p.Glu150Lys					PNPLA7_uc010ncj.1_Missense_Mutation_p.E175K	p.E150K	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	785	-	all_cancers(76;0.126)		150			cNMP 1.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.448G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747631	0.89663	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.44482	0.92;0.92;0.92	3.98	3.98	0.46160	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.70227	0.906;0.968	T	0.75218	-0.3395	10	0.87932	D	0	-32.6725	15.406	0.74877	0.0:1.0:0.0:0.0	.	175;150	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	K	150;175;150;141;175	ENSP00000277531:E150K;ENSP00000384610:E175K;ENSP00000400582:E141K	ENSP00000277531:E150K	E	-	1	0	PNPLA7	139557058	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.494000	0.81503	1.928000	0.55862	0.563000	0.77884	GAG		0.622	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286		12	71	0	0	0	0.00499	0	12	71		
IQSEC2	23096	broad.mit.edu	37	X	53270978	53270978	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:53270978A>T	ENST00000375368.5	-	9	3173	c.2973T>A	c.(2971-2973)aaT>aaA	p.N991K	IQSEC2_ENST00000375365.2_Missense_Mutation_p.N796K|IQSEC2_ENST00000396435.3_Missense_Mutation_p.N1001K			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	991	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CAAGGAGATCATTGAAGAGGA	0.557																																						uc004dsd.2		NaN																	0				ovary(3)	3						c.(3001-3003)AAT>AAA		IQ motif and Sec7 domain 2 isoform1							87.0	62.0	70.0					X																	53270978		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53270978A>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2973T>A	X.37:g.53270978A>T	ENSP00000364517:p.Asn991Lys					IQSEC2_uc004dsc.2_Missense_Mutation_p.N796K	p.N1001K	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			10	3204	-			991			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3003T>A		.	.	.	.	.	.	.	.	.	.	a	19.20	3.782525	0.70222	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.60299	0.2;0.2;0.2	5.12	-0.391	0.12446	.	0.105445	0.64402	D	0.000007	T	0.72700	0.3493	M	0.83483	2.645	0.53688	D	0.999971	D;P	0.89917	1.0;0.912	D;P	0.97110	1.0;0.483	T	0.71290	-0.4637	10	0.87932	D	0	.	9.4878	0.38940	0.5631:0.0:0.4369:0.0	.	1001;796	Q5JU85-2;Q5JU85-3	.;.	K	1001;991;796	ENSP00000379712:N1001K;ENSP00000364517:N991K;ENSP00000364514:N796K	ENSP00000364514:N796K	N	-	3	2	IQSEC2	53287703	0.892000	0.30473	0.995000	0.50966	0.998000	0.95712	-0.018000	0.12568	-0.366000	0.08064	0.474000	0.43551	AAT		0.557	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding			XM_291345		9	29	0	0	0	0.008291	0	9	29		
HEPH	9843	broad.mit.edu	37	X	65476064	65476064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:65476064G>A	ENST00000343002.2	+	16	3452	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	HEPH_ENST00000419594.1_Missense_Mutation_p.E741K|HEPH_ENST00000374727.3_Missense_Mutation_p.E933K|HEPH_ENST00000336279.5_Missense_Mutation_p.E663K|HEPH_ENST00000441993.2_Missense_Mutation_p.E933K|HEPH_ENST00000519389.1_Missense_Mutation_p.E984K			Q9BQS7	HEPH_HUMAN	hephaestin	930	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATTTTTGATGAAAATAAGTC	0.473																																						uc011moz.1		NaN																	0				lung(5)|ovary(4)	9						c.(2797-2799)GAA>AAA		hephaestin isoform a							162.0	150.0	154.0					X																	65476064		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65476064G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2788G>A	X.37:g.65476064G>A	ENSP00000343939:p.Glu930Lys					HEPH_uc004dwn.2_Missense_Mutation_p.E933K|HEPH_uc004dwo.2_Missense_Mutation_p.E663K|HEPH_uc010nkr.2_Missense_Mutation_p.E741K|HEPH_uc011mpa.1_Missense_Mutation_p.E933K|HEPH_uc010nks.2_Missense_Mutation_p.E222K	p.E933K	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			17	2857	+			930			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2797G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.003773	0.74932	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81;-5.81;-5.81	4.43	4.43	0.53597	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.87547	2.89	0.48087	D	0.999588	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.974;1.0;1.0;0.999	D	0.98505	1.0616	10	0.66056	D	0.02	.	15.0499	0.71858	0.0:0.0:1.0:0.0	.	984;330;741;930	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	K	984;933;663;933;741;930	ENSP00000430620:E984K;ENSP00000363859:E933K;ENSP00000337418:E663K;ENSP00000411687:E933K;ENSP00000413211:E741K;ENSP00000343939:E930K	ENSP00000337418:E663K	E	+	1	0	HEPH	65392789	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	9.330000	0.96422	2.198000	0.70561	0.600000	0.82982	GAA		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1		NM_138737		13	25	0	0	0	0.016723	0	13	25		
ARMCX1	51309	broad.mit.edu	37	X	100808026	100808026	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:100808026G>C	ENST00000372829.3	+	4	484	c.113G>C	c.(112-114)tGg>tCg	p.W38S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	38						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GAGAAAATCTGGGACGAAGAC	0.567																																						uc004ehv.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(112-114)TGG>TCG		armadillo repeat containing, X-linked 1							85.0	73.0	77.0					X																	100808026		2203	4300	6503	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808026G>C	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.113G>C	X.37:g.100808026G>C	ENSP00000361917:p.Trp38Ser					ARMCX1_uc004ehw.2_Missense_Mutation_p.W38S	p.W38S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN			4	484	+			38					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.113G>C	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	12.81	2.048713	0.36181	.	.	ENSG00000126947	ENST00000372829	T	0.22134	1.97	3.6	2.73	0.32206	.	0.000000	0.30347	N	0.009837	T	0.12817	0.0311	N	0.24115	0.695	0.45806	D	0.998681	P	0.48911	0.917	B	0.41135	0.348	T	0.04165	-1.0972	10	0.51188	T	0.08	-1.122	7.4532	0.27250	0.0:0.0:0.7431:0.2569	.	38	Q9P291	ARMX1_HUMAN	S	38	ENSP00000361917:W38S	ENSP00000361917:W38S	W	+	2	0	ARMCX1	100694682	1.000000	0.71417	0.993000	0.49108	0.390000	0.30446	2.376000	0.44292	0.868000	0.35678	-0.283000	0.09986	TGG		0.567	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1		NM_016608		9	26	0	0	0	0.006214	0	9	26		
MORF4L2	9643	broad.mit.edu	37	X	102931203	102931203	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:102931203T>C	ENST00000441076.2	-	4	1057	c.753A>G	c.(751-753)ttA>ttG	p.L251L	MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Silent_p.L251L|MORF4L2_ENST00000451301.1_Silent_p.L251L|MORF4L2_ENST00000433176.2_Silent_p.L251L|MORF4L2_ENST00000423833.2_Silent_p.L251L|MORF4L2_ENST00000360458.1_Silent_p.L251L	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	251	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AGCCCAACAATAATGCAAGGC	0.423																																						uc004ekw.2		NaN																	0					0						c.(751-753)TTA>TTG		mortality factor 4 like 2							94.0	84.0	88.0					X																	102931203		2203	4300	6503	SO:0001819	synonymous_variant	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931203T>C	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.753A>G	X.37:g.102931203T>C						MORF4L2_uc004ela.2_Silent_p.L251L|MORF4L2_uc004ekx.2_Silent_p.L251L|MORF4L2_uc004elb.2_Silent_p.L251L|MORF4L2_uc004eky.2_Silent_p.L251L|MORF4L2_uc010nos.2_Silent_p.L251L|MORF4L2_uc004ekz.2_Silent_p.L251L|MORF4L2_uc011mry.1_Silent_p.L251L|MORF4L2_uc011mrz.1_Silent_p.L251L|MORF4L2_uc004elc.2_Silent_p.L251L|MORF4L2_uc004elf.2_Silent_p.L251L|MORF4L2_uc004ele.2_Silent_p.L251L|MORF4L2_uc011msa.1_Silent_p.L251L|MORF4L2_uc011msb.1_Silent_p.L251L|MORF4L2_uc011msc.1_Silent_p.L251L|MORF4L2_uc011msd.1_Silent_p.L251L|MORF4L2_uc004eld.2_Silent_p.L251L	p.L251L	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1985	-			251					B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	ENST00000441076.2	37	c.753A>G	CCDS14512.1																																																																																				0.423	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1		NM_012286		4	32	0	0	0	0.009096	0	4	32		
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)	uc010pvo.1		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(274-285)AGCAGCGGCAGT>AGT		1D-myo-inositol-trisphosphate 3-kinase B				530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				SO:0001651	inframe_deletion	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924876_226924884delCTGCCGCTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del					ITPKB_uc001hqh.2_In_Frame_Del_p.92_95SSGS>S	p.92_95SSGS>S	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	616_624	-		Prostate(94;0.0773)	92_95					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	c.276_284delCAGCGGCAG	CCDS1555.1																																																																																				0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		NM_002221		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
SF1	7536	broad.mit.edu	37	11	64533611	64533631	+	Splice_Site	DEL	GGTGGTAGTCGTCGTATCTGG	GGTGGTAGTCGTCGTATCTGG	-	rs372358136		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:64533611_64533631delGGTGGTAGTCGTCGTATCTGG	ENST00000377390.3	-	13	1920_1936	c.1583_1599delCCAGATACGACGACTACCACC	c.(1582-1599)accagatacgacgactac>a	p.TRYDDY528del	SF1_ENST00000422298.2_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Splice_Site_p.TRYDDY502del|SF1_ENST00000227503.9_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Splice_Site_p.TRYDDY528del	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	528	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCGCTCGTGGTGGTAGTCGTCGTATCTGGGGTGGTAAAG	0.67																																						uc001obb.1		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.e13-1		splicing factor 1 isoform 1																																				SO:0001630	splice_region_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64533611_64533631delGGTGGTAGTCGTCGTATCTGG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1583-1CCAGATACGACGACTACCACC>-	11.37:g.64533611_64533631delGGTGGTAGTCGTCGTATCTGG						SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Splice_Site_p.N502_splice|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Splice_Site_p.N528_splice|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	p.N528_splice	NM_004630	NP_004621	Q15637	SF01_HUMAN			13	1960	-								B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	DEL	ENST00000377390.3	37	c.1583_splice	CCDS31599.1																																																																																				0.670	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1		NM_004630	In_Frame_Del	11	62	NaN	NaN	NaN	NaN	NaN	11	62	---	---
DUSP6	1848	broad.mit.edu	37	12	89743323	89743341	+	Splice_Site	DEL	TTGCCCCGGGCTTCATCTG	TTGCCCCGGGCTTCATCTG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:89743323_89743341delTTGCCCCGGGCTTCATCTG	ENST00000279488.7	-	3	2070_2085	c.839_854delCAGATGAAGCCCGGGGCAA	c.(838-855)gcagatgaagcccggggc>gc	p.ADEARG280fs	DUSP6_ENST00000308385.6_Splice_Site_p.ADEARG134fs|DUSP6_ENST00000547291.1_Splice_Site_p.ADEARG155fs|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	280	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|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 ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						ACCACAGTTCTTGCCCCGGGCTTCATCTGTGAACACAAA	0.425																																					Colon(132;3456 5224)	uc001tay.2		NaN																	0					0						c.e3-1		dual specificity phosphatase 6 isoform a																																				SO:0001630	splice_region_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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 tyrosine phosphatase activity	g.chr12:89743323_89743341delTTGCCCCGGGCTTCATCTG	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.839-1CAGATGAAGCCCGGGGCAA>-	12.37:g.89743323_89743341delTTGCCCCGGGCTTCATCTG						DUSP6_uc001taz.2_Splice_Site_p.D134_splice	p.D280_splice	NM_001946	NP_001937	Q16828	DUS6_HUMAN			3	1319	-								O75109|Q53Y75|Q9BSH6	Splice_Site	DEL	ENST00000279488.7	37	c.839_splice	CCDS9033.1																																																																																				0.425	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2		NM_001946, NM_022652	Frame_Shift_Del	14	59	NaN	NaN	NaN	NaN	NaN	14	59	---	---
PCMTD2	55251	broad.mit.edu	37	20	62895852	62895854	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:62895852_62895854delCTT	ENST00000308824.6	+	3	505_507	c.378_380delCTT	c.(376-381)gacttc>gac	p.F128del	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_In_Frame_Del_p.F128del|PCMTD2_ENST00000299468.7_In_Frame_Del_p.F128del	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	128						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAAACTGGACTTCTTCATCAGA	0.355																																						uc002yil.3		NaN																	0					0						c.(376-381)GACTTC>GAC		protein-L-isoaspartate (D-aspartate)																																				SO:0001651	inframe_deletion	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62895852_62895854delCTT	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.378_380delCTT	20.37:g.62895855_62895857delCTT	ENSP00000307854:p.Phe128del					PCMTD2_uc002yim.3_In_Frame_Del_p.F128del	p.F128del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			3	578_580	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		128					E1P5H3|Q8IW60|Q9H4K2	In_Frame_Del	DEL	ENST00000308824.6	37	c.378_380delCTT	CCDS13559.1																																																																																				0.355	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1		NM_018257		8	74	NaN	NaN	NaN	NaN	NaN	8	74	---	---
HHATL	57467	broad.mit.edu	37	3	42740315	42740317	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:42740315_42740317delAGC	ENST00000441594.1	-	5	627_629	c.366_368delGCT	c.(364-369)ctgctt>ctt	p.122_123LL>L	HHATL_ENST00000310417.5_In_Frame_Del_p.122_123LL>L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	122					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACAGTGACCAAGCAGCAGCAGCA	0.621																																						uc003clw.2		NaN																	0				ovary(3)	3						c.(364-369)CTGCTT>CTT		hedgehog acyltransferase-like																																				SO:0001651	inframe_deletion	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42740315_42740317delAGC	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.366_368delGCT	3.37:g.42740324_42740326delAGC	ENSP00000405423:p.Leu123del					HHATL_uc003clx.2_In_Frame_Del_p.122_123LL>L	p.122_123LL>L	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	6	513_515	-			122_123					Q8TBG3|Q9ULP7	In_Frame_Del	DEL	ENST00000441594.1	37	c.366_368delGCT	CCDS2704.1																																																																																				0.621	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1		NM_020707		7	139	NaN	NaN	NaN	NaN	NaN	7	139	---	---
OR2B3	442184	broad.mit.edu	37	6	29054200	29054200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:29054200delG	ENST00000377173.2	-	1	890	c.826delC	c.(826-828)ctcfs	p.L276fs		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	276						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)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCATAGAAGAGGGAAACCATC	0.433																																						uc003nlx.2		NaN																	0				skin(1)	1						c.(826-828)CTCfs		olfactory receptor, family 2, subfamily B,							102.0	88.0	93.0					6																	29054200		2203	4300	6503	SO:0001589	frameshift_variant	442184							g.chr6:29054200delG		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.826delC	6.37:g.29054200delG	ENSP00000366378:p.Leu276fs						p.L276fs	NM_001005226	NP_001005226					1	891	-								B0UYQ1|Q5ST41|Q96R13	Frame_Shift_Del	DEL	ENST00000377173.2	37	c.826delC	CCDS34358.1																																																																																				0.433	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2				7	35	NaN	NaN	NaN	NaN	NaN	7	35	---	---
