#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIAA2013	90231	broad.mit.edu	37	1	11983424	11983424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:11983424C>T	ENST00000376572.3	-	2	1341	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	KIAA2013_ENST00000376576.3_Missense_Mutation_p.E386K	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	386						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCTCGCTCCCTGTGGCTC	0.637																																						uc001atk.2		NA																	0				ovary(1)	1						c.(1156-1158)GAG>AAG		hypothetical protein LOC90231 precursor							73.0	63.0	66.0					1																	11983424		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11983424C>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1156G>A	1.37:g.11983424C>T	ENSP00000365756:p.Glu386Lys					KIAA2013_uc001atl.1_Missense_Mutation_p.E386K	p.E386K	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1350	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	386			Extracellular (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1156G>A	CCDS141.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068134	0.36470	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	4.6	0.57074	.	0.275762	0.34025	N	0.004338	T	0.47116	0.1428	L	0.36672	1.1	0.54753	D	0.999983	B;B	0.28178	0.168;0.202	B;B	0.29862	0.108;0.077	T	0.36286	-0.9754	9	0.10902	T	0.67	-5.0332	15.7436	0.77920	0.0:0.8631:0.1369:0.0	.	386;386	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	K	386	.	ENSP00000365756:E386K	E	-	1	0	KIAA2013	11906011	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.437000	0.80417	1.458000	0.47871	-0.181000	0.13052	GAG		0.637	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		5	75	0	0	0	0	5	75				
VPS13D	55187	broad.mit.edu	37	1	12304423	12304423	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:12304423A>G	ENST00000358136.3	+	4	426	c.296A>G	c.(295-297)gAt>gGt	p.D99G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D99G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATTTCAATGATGAAAAGGAG	0.478																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(295-297)GAT>GGT		vacuolar protein sorting 13D isoform 1							92.0	89.0	90.0					1																	12304423		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12304423A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.296A>G	1.37:g.12304423A>G	ENSP00000350854:p.Asp99Gly					VPS13D_uc001atw.2_Missense_Mutation_p.D99G	p.D99G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	4	437	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	99						Missense_Mutation	SNP	ENST00000358136.3	37	c.296A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021827	0.54576	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	.	0.105362	0.64402	D	0.000008	T	0.72961	0.3526	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14578	0.006;0.011	T	0.67035	-0.5772	10	0.25106	T	0.35	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	99;99	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	G	99	ENSP00000348666:D99G;ENSP00000350854:D99G	ENSP00000348666:D99G	D	+	2	0	VPS13D	12227010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.479000	0.66813	2.371000	0.80710	0.533000	0.62120	GAT		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		26	61	0	0	0	0	26	61				
RUNX3	864	broad.mit.edu	37	1	25245773	25245773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:25245773G>A	ENST00000308873.6	-	3	510	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RUNX3_ENST00000399916.1_Nonsense_Mutation_p.R182*|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.R75*|RUNX3_ENST00000338888.3_Nonsense_Mutation_p.R182*	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	168	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGATGGCTCGGTGGTAGGTC	0.652																																						uc001bjq.2		NA																	0					0						c.(502-504)CGA>TGA		runt-related transcription factor 3 isoform 2							84.0	72.0	76.0					1																	25245773		2203	4300	6503	SO:0001587	stop_gained	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25245773G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.502C>T	1.37:g.25245773G>A	ENSP00000308051:p.Arg168*					RUNX3_uc010oen.1_Nonsense_Mutation_p.R168*|RUNX3_uc009vrj.2_Nonsense_Mutation_p.R182*|RUNX3_uc001bjr.2_Nonsense_Mutation_p.R182*	p.R168*	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	3	913	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	168			Runt.		B1AJV5|Q12969|Q13760	Nonsense_Mutation	SNP	ENST00000308873.6	37	c.502C>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859181	0.71834	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	.	.	.	5.07	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0475	12.8108	0.57639	0.0:0.0:0.5698:0.4302	.	.	.	.	X	182;168;182;75;168	.	ENSP00000308051:R168X	R	-	1	2	RUNX3	25118360	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.162000	0.50755	0.502000	0.28037	-0.181000	0.13052	CGA		0.652	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		10	62	0	0	0	0	10	62				
ARID1A	8289	broad.mit.edu	37	1	27088729	27088729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:27088729C>T	ENST00000324856.7	+	7	2709	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q397*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q780*|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	780					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)		TTCCGGAGGACAGATACACAC	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		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.(2338-2340)CAG>TAG		AT rich interactive domain 1A isoform a							73.0	75.0	74.0					1																	27088729		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.chr1:27088729C>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.2338C>T	1.37:g.27088729C>T	ENSP00000320485:p.Gln780*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q780*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q780*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q397*	p.Q780*	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)	7	2711	+		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)	780					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2338C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	40	8.038909	0.98624	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-7.2596	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	780;780;397	.	ENSP00000320485:Q780X	Q	+	1	0	ARID1A	26961316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.459000	0.80802	2.824000	0.97209	0.655000	0.94253	CAG		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		22	70	0	0	0	0	22	70				
INADL	10207	broad.mit.edu	37	1	62321821	62321821	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:62321821T>C	ENST00000371158.2	+	18	2346	c.2232T>C	c.(2230-2232)tgT>tgC	p.C744C	INADL_ENST00000316485.6_Silent_p.C744C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	744	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.		C -> R (in dbSNP:rs1134764). {ECO:0000269|PubMed:9280290}.		cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGAATACTGTTTGGACAACA	0.493																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(2230-2232)TGT>TGC		InaD-like							175.0	155.0	162.0					1																	62321821		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62321821T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2232T>C	1.37:g.62321821T>C						INADL_uc009waf.1_Silent_p.C744C|INADL_uc001daa.2_Silent_p.C744C|INADL_uc001dad.3_Silent_p.C441C|INADL_uc001dac.2_RNA	p.C744C	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			18	2346	+			744			PDZ 5.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.2232T>C	CCDS617.2																																																																																				0.493	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		42	76	0	0	0	0	42	76				
SASS6	163786	broad.mit.edu	37	1	100550935	100550935	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:100550935C>T	ENST00000287482.5	-	17	2063	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000535161.1_Silent_p.A474A|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	641					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGAGGGGAGCGCTGTGGGTT	0.408																																						uc001dsu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1921-1923)GCG>GCA		spindle assembly abnormal protein 6							172.0	179.0	177.0					1																	100550935		2203	4300	6503	SO:0001819	synonymous_variant	163786				centriole replication	centriole		g.chr1:100550935C>T	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1923G>A	1.37:g.100550935C>T						SASS6_uc009wdz.2_Silent_p.A474A	p.A641A	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	17	2064	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	641					D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	37	c.1923G>A	CCDS764.1																																																																																				0.408	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		54	117	0	0	0	0	54	117				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|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		NA																	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		6	61	0	0	0	0	6	61				
FLAD1	80308	broad.mit.edu	37	1	154962992	154962992	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:154962992C>T	ENST00000292180.3	+	5	1864	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	FLAD1_ENST00000315144.10_Silent_p.I417I|FLAD1_ENST00000368432.1_Silent_p.I417I|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000368428.1_Silent_p.I55I|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	514	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCGCATCAACCCACTGC	0.607																																						uc001fgf.1		NA																	0				ovary(2)|skin(1)	3						c.(1540-1542)ATC>ATT		flavin adenine dinucleotide synthetase isoform							44.0	43.0	43.0					1																	154962992		2203	4300	6503	SO:0001819	synonymous_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962992C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1542C>T	1.37:g.154962992C>T						FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Silent_p.I417I|FLAD1_uc001fgg.1_Silent_p.I417I|FLAD1_uc001fgh.1_Intron	p.I514I	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	1896	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		514			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.1542C>T	CCDS1078.1																																																																																				0.607	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		7	28	0	0	0	0	7	28				
TMCO1	54499	broad.mit.edu	37	1	165721337	165721337	+	Splice_Site	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:165721337A>G	ENST00000392129.6	-	5	474		c.e5+1		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAGGACACTCACATGGAATTG	0.299																																						uc001gdj.3		NA																	0				central_nervous_system(1)	1						c.e5+1		transmembrane and coiled-coil domains 1							92.0	85.0	87.0					1																	165721337		2203	4300	6503	SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165721337A>G	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.323+1T>C	1.37:g.165721337A>G						TMCO1_uc001gdl.3_Splice_Site_p.I24_splice|TMCO1_uc001gdm.3_Splice_Site_p.I24_splice|TMCO1_uc001gdk.3_Splice_Site_p.I96_splice|TMCO1_uc001gdn.3_Splice_Site	p.I108_splice	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			5	472	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	SNP	ENST00000392129.6	37	c.323_splice		.	.	.	.	.	.	.	.	.	.	A	23.4	4.413220	0.83449	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0243	0.64575	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMCO1	163987961	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.667000	0.91153	2.199000	0.70637	0.529000	0.55759	.		0.299	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	5	62	0	0	0	0	5	62				
C1orf35	79169	broad.mit.edu	37	1	228288911	228288911	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:228288911C>A	ENST00000272139.4	-	8	947	c.713G>T	c.(712-714)tGt>tTt	p.C238F	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	238							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTCCTCTTACAGCAGGGGGA	0.647																																						uc001hrx.2		NA																	0					0						c.(712-714)TGT>TTT		hypothetical protein LOC79169							96.0	85.0	89.0					1																	228288911		2203	4300	6503	SO:0001583	missense	79169							g.chr1:228288911C>A	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.713G>T	1.37:g.228288911C>A	ENSP00000272139:p.Cys238Phe					C1orf35_uc009xew.2_RNA	p.C238F	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN			8	807	-		Prostate(94;0.0488)	238					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.713G>T	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477032	0.26511	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.44	-0.738	0.11125	.	1.191980	0.06026	N	0.652228	T	0.26629	0.0651	L	0.27053	0.805	0.22317	N	0.999207	B	0.23128	0.08	B	0.14578	0.011	T	0.20806	-1.0264	9	0.39692	T	0.17	-4.407	4.1501	0.10234	0.0:0.3888:0.3811:0.2301	.	238	Q9BU76	MMTA2_HUMAN	F	238	.	ENSP00000272139:C238F	C	-	2	0	C1orf35	226355534	0.001000	0.12720	0.516000	0.27786	0.762000	0.43233	-0.097000	0.11042	-0.120000	0.11809	0.485000	0.47835	TGT		0.647	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		28	25	1	0	2.49e-11	2.82e-11	28	25				
OR2L13	284521	broad.mit.edu	37	1	248262831	248262831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:248262831C>T	ENST00000358120.2	+	2	299	c.154C>T	c.(154-156)Cct>Tct	p.P52S	OR2L13_ENST00000366478.2_Missense_Mutation_p.P52S			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P52S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCACGTGGATCCTCGTCTCCA	0.498																																						uc001ids.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(154-156)CCT>TCT		olfactory receptor, family 2, subfamily L,							240.0	223.0	229.0					1																	248262831		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262831C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.154C>T	1.37:g.248262831C>T	ENSP00000350836:p.Pro52Ser						p.P52S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	491	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		52			Cytoplasmic (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.154C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.468323	0.01053	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03951	3.75;3.75	4.07	-6.72	0.01755	GPCR, rhodopsin-like superfamily (1);	1.550550	0.04043	N	0.303352	T	0.01661	0.0053	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.02654	T	1	.	6.9267	0.24419	0.0:0.1956:0.3347:0.4697	.	52	Q8N349	OR2LD_HUMAN	S	52	ENSP00000355434:P52S;ENSP00000350836:P52S	ENSP00000350836:P52S	P	+	1	0	OR2L13	246329454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.034000	0.00158	-1.538000	0.01734	-0.145000	0.13849	CCT		0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		17	137	0	0	0	0	17	137				
CDH23	64072	broad.mit.edu	37	10	73569779	73569779	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:73569779C>T	ENST00000224721.6	+	60	8945	c.8940C>T	c.(8938-8940)ttC>ttT	p.F2980F	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.F735F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2975					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGAGGAGTTCATCCACCTGC	0.602																																						uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(8923-8925)TTC>TTT		cadherin-like 23 isoform 1 precursor							67.0	68.0	68.0					10																	73569779		2092	4196	6288	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73569779C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8940C>T	10.37:g.73569779C>T						CDH23_uc001jsg.3_Silent_p.F735F|CDH23_uc001jsh.3_Silent_p.F735F|CDH23_uc001jsi.3_Silent_p.F735F|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	p.F2975F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			59	9302	+			2975			Cadherin 27.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.8925C>T																																																																																					0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		26	102	0	0	0	0	26	102				
TAF5	6877	broad.mit.edu	37	10	105139408	105139408	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:105139408T>G	ENST00000369839.3	+	4	1180	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	TAF5_ENST00000351396.4_Missense_Mutation_p.L386W	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	386					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGGTACCTTTGGATGACGAG	0.308																																						uc001kwv.2		NA																	0				ovary(2)	2						c.(1156-1158)TTG>TGG		TBP-associated factor 5							59.0	58.0	58.0					10																	105139408		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105139408T>G	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1157T>G	10.37:g.105139408T>G	ENSP00000358854:p.Leu386Trp					TAF5_uc010qqq.1_Missense_Mutation_p.L386W	p.L386W	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	4	1180	+		Colorectal(252;0.0747)|Breast(234;0.128)	386					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1157T>G	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946238	0.73672	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.61980	0.35;0.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	L	0.47716	1.5	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.76184	-0.3052	10	0.66056	D	0.02	-1.5045	15.8441	0.78874	0.0:0.0:0.0:1.0	.	386;386	Q15542-2;Q15542	.;TAF5_HUMAN	W	386	ENSP00000358854:L386W;ENSP00000311024:L386W	ENSP00000311024:L386W	L	+	2	0	TAF5	105129398	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.675000	0.84002	2.137000	0.66172	0.533000	0.62120	TTG		0.308	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			9	49	0	0	0	0	9	49				
CNGA4	1262	broad.mit.edu	37	11	6262969	6262969	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:6262969C>A	ENST00000379936.2	+	5	1341	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	CNGA4_ENST00000533426.1_Missense_Mutation_p.A178E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	409					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCGGTGCAGGGCTCTAC	0.537																																						uc001mco.2		NA																	0				skin(1)	1						c.(1225-1227)GCA>GAA		cyclic nucleotide gated channel alpha 4							225.0	193.0	204.0					11																	6262969		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262969C>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1226C>A	11.37:g.6262969C>A	ENSP00000369268:p.Ala409Glu					CNGA4_uc010raa.1_Missense_Mutation_p.A178E|CNGA4_uc001mcn.2_Missense_Mutation_p.A369E	p.A409E	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1333	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	409			cNMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1226C>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	3.413	-0.119739	0.06838	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.92752	-3.1;-3.1	5.0	5.0	0.66597	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.233994	0.41938	D	0.000795	T	0.82042	0.4951	N	0.13352	0.335	0.45733	D	0.998637	B;B;B	0.27192	0.171;0.04;0.026	B;B;B	0.31101	0.124;0.027;0.023	T	0.75983	-0.3125	10	0.02654	T	1	.	10.8115	0.46549	0.2863:0.7137:0.0:0.0	.	178;409;369	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	E	178;409	ENSP00000433399:A178E;ENSP00000369268:A409E	ENSP00000369268:A409E	A	+	2	0	CNGA4	6219545	0.021000	0.18746	1.000000	0.80357	0.981000	0.71138	0.336000	0.19823	2.588000	0.87417	0.655000	0.94253	GCA		0.537	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		39	152	1	0	2.25e-16	2.62e-16	39	152				
USH1C	10083	broad.mit.edu	37	11	17548774	17548774	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:17548774C>T	ENST00000318024.4	-	5	600	c.492G>A	c.(490-492)gtG>gtA	p.V164V	USH1C_ENST00000005226.7_Silent_p.V164V|USH1C_ENST00000527020.1_Silent_p.V164V|USH1C_ENST00000527720.1_Silent_p.V133V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	164	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACTCACGTCTCACTTTGATGG	0.572																																						uc001mnf.2		NA																	0				ovary(1)	1						c.(490-492)GTG>GTA		harmonin isoform a							133.0	105.0	114.0					11																	17548774		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17548774C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.492G>A	11.37:g.17548774C>T						USH1C_uc001mne.2_Silent_p.V164V|USH1C_uc009yhb.2_Silent_p.V164V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.V128V	p.V164V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			5	601	-			164			PDZ 1.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.492G>A	CCDS31438.1																																																																																				0.572	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		19	65	0	0	0	0	19	65				
FRMD8	83786	broad.mit.edu	37	11	65161133	65161133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65161133G>A	ENST00000317568.5	+	4	506	c.343G>A	c.(343-345)Gac>Aac	p.D115N	FRMD8_ENST00000355991.5_Missense_Mutation_p.D59N|FRMD8_ENST00000416776.2_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	115	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAGACGATGACGTGGCCAT	0.652																																						uc001odu.3		NA																	0				lung(1)|pancreas(1)	2						c.(343-345)GAC>AAC		FERM domain containing 8							73.0	54.0	60.0					11																	65161133		2201	4296	6497	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65161133G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.343G>A	11.37:g.65161133G>A	ENSP00000319726:p.Asp115Asn					FRMD8_uc009yqj.2_Missense_Mutation_p.D59N|FRMD8_uc010rof.1_Intron	p.D115N	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			4	535	+			115			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.343G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008941	0.54361	.	.	ENSG00000126391	ENST00000317568;ENST00000533782;ENST00000355991	D;T;T	0.84223	-1.82;-1.18;-1.24	4.84	4.84	0.62591	Band 4.1 domain (1);FERM domain (1);	0.108661	0.64402	D	0.000012	D	0.90998	0.7169	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.063;0.999	B;D	0.66716	0.099;0.946	D	0.91558	0.5262	10	0.56958	D	0.05	-15.2935	15.7846	0.78291	0.0:0.0:1.0:0.0	.	59;115	Q9BZ67-2;Q9BZ67	.;FRMD8_HUMAN	N	115;59;59	ENSP00000319726:D115N;ENSP00000435913:D59N;ENSP00000348270:D59N	ENSP00000319726:D115N	D	+	1	0	FRMD8	64917709	1.000000	0.71417	0.218000	0.23776	0.254000	0.26022	6.774000	0.75012	2.410000	0.81850	0.462000	0.41574	GAC		0.652	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		5	24	0	0	0	0	5	24				
EFEMP2	30008	broad.mit.edu	37	11	65635459	65635459	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65635459A>T	ENST00000307998.6	-	10	1273	c.1043T>A	c.(1042-1044)aTg>aAg	p.M348K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.M348K|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	348					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGTGATGGTCATGTAGCGGTG	0.612																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(1042-1044)ATG>AAG		EGF-containing fibulin-like extracellular matrix							102.0	93.0	96.0					11																	65635459		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635459A>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1043T>A	11.37:g.65635459A>T	ENSP00000309953:p.Met348Lys					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.M348K	p.M348K	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1237	-			348					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1043T>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	A	34	5.383514	0.95967	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;T	0.86769	-2.17;-1.69;-1.62;-1.52;-1.49	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	D	0.92309	0.7560	M	0.78637	2.42	0.80722	D	1	D;P	0.55800	0.973;0.932	D;P	0.64042	0.921;0.888	D	0.92605	0.6094	10	0.52906	T	0.07	.	13.3002	0.60321	1.0:0.0:0.0:0.0	.	348;348	E9PRU1;O95967	.;FBLN4_HUMAN	K	7;64;348;348;1	ENSP00000436536:M7K;ENSP00000436521:M64K;ENSP00000434151:M348K;ENSP00000309953:M348K;ENSP00000436526:M1K	ENSP00000309953:M348K	M	-	2	0	EFEMP2	65392035	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.102000	0.77005	2.044000	0.60594	0.374000	0.22700	ATG		0.612	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		5	86	0	0	0	0	5	86				
ARHGEF12	23365	broad.mit.edu	37	11	120352148	120352148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:120352148G>A	ENST00000397843.2	+	39	4583	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1370K|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1454K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1473					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTCACCCCCGAATTTCTGGT	0.532			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(4417-4419)GAA>AAA		Rho guanine nucleotide exchange factor (GEF) 12							88.0	90.0	89.0					11																	120352148		1909	4133	6042	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352148G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4417G>A	11.37:g.120352148G>A	ENSP00000380942:p.Glu1473Lys					ARHGEF12_uc009zau.1_Missense_Mutation_p.E1370K	p.E1473K	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4424	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1473					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4417G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167251	0.78339	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	6.08	6.08	0.98989	.	0.126809	0.35235	N	0.003360	T	0.54319	0.1851	L	0.29908	0.895	0.35149	D	0.769637	P	0.47253	0.892	B	0.35413	0.202	T	0.65611	-0.6126	10	0.41790	T	0.15	-19.7281	18.8453	0.92203	0.0:0.0:1.0:0.0	.	1473	Q9NZN5	ARHGC_HUMAN	K	1473;1454;1370	ENSP00000380942:E1473K;ENSP00000349056:E1454K;ENSP00000432984:E1370K	ENSP00000349056:E1454K	E	+	1	0	ARHGEF12	119857358	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	4.380000	0.59581	2.890000	0.99128	0.655000	0.94253	GAA		0.532	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		22	65	0	0	0	0	22	65				
RAPGEF3	10411	broad.mit.edu	37	12	48142708	48142708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:48142708C>A	ENST00000449771.2	-	11	1136	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.E350*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	350					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTCTTTGCCTCCACATCCTGG	0.592																																						uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(922-924)GAG>TAG		Rap guanine nucleotide exchange factor 3 isoform							132.0	109.0	117.0					12																	48142708		2203	4300	6503	SO:0001587	stop_gained	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48142708C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1048G>T	12.37:g.48142708C>A	ENSP00000395708:p.Glu350*					RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Nonsense_Mutation_p.E308*|RAPGEF3_uc001rpz.3_Nonsense_Mutation_p.E350*|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Nonsense_Mutation_p.E362*	p.E308*	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	10	1362	-	Lung SC(27;0.192)		308					A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	ENST00000449771.2	37	c.922G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	41	8.586878	0.98875	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.314	0.82909	0.0:1.0:0.0:0.0	.	.	.	.	X	308;350;308;308;308;350;362;308;350	.	ENSP00000171000:E308X	E	-	1	0	RAPGEF3	46428975	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.004000	0.76317	2.623000	0.88846	0.650000	0.86243	GAG		0.592	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		30	93	1	0	3.99e-17	4.68e-17	30	93				
ARHGEF25	115557	broad.mit.edu	37	12	58008471	58008471	+	Splice_Site	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:58008471G>T	ENST00000286494.4	+	9	1276		c.e9-1		ARHGEF25_ENST00000333972.7_Splice_Site|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGTCCCCAGGAGCTCCGGC	0.587																																						uc001spb.2		NA																	0					0						c.e9-1		RhoA/RAC/CDC42 exchange factor isoform 1							35.0	33.0	34.0					12																	58008471		2203	4300	6503	SO:0001630	splice_region_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58008471G>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.817-1G>T	12.37:g.58008471G>T						GEFT_uc009zpy.2_Splice_Site_p.E312_splice|GEFT_uc001soz.1_Splice_Site_p.E147_splice|GEFT_uc001spa.2_Splice_Site_p.E167_splice|uc001spc.2_Intron|GEFT_uc001spd.2_Translation_Start_Site	p.E273_splice	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			9	1277	+	Melanoma(17;0.122)							A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Splice_Site	SNP	ENST00000286494.4	37	c.817_splice	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701227	0.68501	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.273	0.82630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF25	56294738	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.159000	0.94728	2.436000	0.82500	0.563000	0.77884	.		0.587	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	Intron	4	35	1	0	0.00909568	0.0097075	4	35				
SART3	9733	broad.mit.edu	37	12	108917341	108917341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:108917341G>C	ENST00000228284.3	-	19	3019	c.2785C>G	c.(2785-2787)Cag>Gag	p.Q929E	SART3_ENST00000431469.2_Missense_Mutation_p.Q893E	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	929					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCTCAGCCTGAGGAGCTGCA	0.602									Porokeratosis																													uc001tmz.1		NA																	0				pancreas(1)	1						c.(2785-2787)CAG>GAG		squamous cell carcinoma antigen recognized by T							72.0	70.0	71.0					12																	108917341		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108917341G>C	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2785C>G	12.37:g.108917341G>C	ENSP00000228284:p.Gln929Glu					SART3_uc001tmy.1_Missense_Mutation_p.Q455E|SART3_uc009zux.1_Missense_Mutation_p.Q541E|SART3_uc010swx.1_Missense_Mutation_p.Q893E	p.Q929E	NM_014706	NP_055521	Q15020	SART3_HUMAN			19	3020	-			929					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.2785C>G	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681366	0.29872	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329	T;T	0.15487	2.53;2.42	5.65	4.68	0.58851	.	0.151564	0.64402	D	0.000019	T	0.13243	0.0321	L	0.43152	1.355	0.80722	D	1	B;B	0.27450	0.179;0.172	B;B	0.24006	0.033;0.05	T	0.03112	-1.1071	10	0.07175	T	0.84	-35.7112	13.2647	0.60127	0.0:0.0:0.7609:0.2391	.	893;929	B7ZKM0;Q15020	.;SART3_HUMAN	E	929;893;494	ENSP00000228284:Q929E;ENSP00000414453:Q893E	ENSP00000228284:Q929E	Q	-	1	0	SART3	107441471	0.999000	0.42202	0.917000	0.36280	0.989000	0.77384	3.945000	0.56637	2.648000	0.89879	0.655000	0.94253	CAG		0.602	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			34	84	0	0	0	0	34	84				
ATXN2	6311	broad.mit.edu	37	12	111893892	111893892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:111893892G>A	ENST00000377617.3	-	23	3846	c.3685C>T	c.(3685-3687)Cat>Tat	p.H1229Y	ATXN2_ENST00000608853.1_Missense_Mutation_p.H1069Y|ATXN2_ENST00000535949.1_Missense_Mutation_p.H922Y|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966Y|ATXN2_ENST00000542287.2_Missense_Mutation_p.H964Y|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGAAGGATGGATCGTAAAG	0.557																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(3685-3687)CAT>TAT		ataxin 2							415.0	363.0	380.0					12																	111893892		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893892G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3685C>T	12.37:g.111893892G>A	ENSP00000366843:p.His1229Tyr					ATXN2_uc001tsh.2_Missense_Mutation_p.H964Y|ATXN2_uc001tsi.2_Missense_Mutation_p.H922Y|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.H417Y|ATXN2_uc001tsl.1_Missense_Mutation_p.H230Y	p.H1229Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN			23	3847	-			1229					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3685C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856689	0.91433	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	D	0.84298	-1.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.993;0.981;0.998;0.996	D;D;D;D;D	0.79784	0.986;0.968;0.954;0.993;0.986	D	0.87211	0.2247	10	0.36615	T	0.2	-12.2066	19.9595	0.97236	0.0:0.0:1.0:0.0	.	230;1229;922;964;966	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	Y	284;966;1229;230;964;922;154	ENSP00000366843:H1229Y	ENSP00000366843:H1229Y	H	-	1	0	ATXN2	110378275	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.974000	0.93433	2.797000	0.96272	0.563000	0.77884	CAT		0.557	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		39	247	0	0	0	0	39	247				
HECTD4	283450	broad.mit.edu	37	12	112667559	112667559	+	Silent	SNP	G	G	A	rs370476121		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:112667559G>A	ENST00000430131.2	-	40	6341	c.5196C>T	c.(5194-5196)gcC>gcT	p.A1732A	HECTD4_ENST00000377560.5_Silent_p.A1982A|HECTD4_ENST00000550722.1_Silent_p.A2008A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1732					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACACAGTGCGGCAACGGCCT	0.493																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(5194-5196)GCC>GCT		chromosome 12 open reading frame 51							161.0	163.0	162.0					12																	112667559		1967	4136	6103	SO:0001819	synonymous_variant	283450							g.chr12:112667559G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5196C>T	12.37:g.112667559G>A						C12orf51_uc001ttr.1_5'Flank	p.A1732A	NM_001109662	NP_001103132					34	5214	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5196C>T																																																																																					0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		40	119	0	0	0	0	40	119				
SOX1	6656	broad.mit.edu	37	13	112722100	112722100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr13:112722100G>A	ENST00000330949.1	+	1	188	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ggcggcgggggcgCCAAGGCC	0.781																																						uc001vsb.1		NA																	0					0						c.(127-129)GGC>GAC		SRY (sex determining region Y)-box 1							10.0	13.0	12.0					13																	112722100		2182	4275	6457	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722100G>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.128G>A	13.37:g.112722100G>A	ENSP00000330218:p.Gly43Asp						p.G43D	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	188	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	43			Poly-Gly.		Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.128G>A	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.728682	0.48833	.	.	ENSG00000182968	ENST00000330949	D	0.98701	-5.08	3.26	2.38	0.29361	High mobility group, superfamily (1);	0.095165	0.39834	U	0.001253	D	0.97604	0.9215	L	0.41632	1.29	0.39835	D	0.973027	D	0.64830	0.994	P	0.56823	0.807	D	0.96301	0.9221	10	0.45353	T	0.12	.	10.2587	0.43414	0.0:0.0:0.786:0.214	.	43	O00570	SOX1_HUMAN	D	43	ENSP00000330218:G43D	ENSP00000330218:G43D	G	+	2	0	SOX1	111770101	1.000000	0.71417	0.835000	0.33067	0.582000	0.36321	3.888000	0.56204	0.544000	0.28883	0.450000	0.29827	GGC		0.781	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	2	0	0	0	0	5	2				
FAN1	22909	broad.mit.edu	37	15	31197067	31197067	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:31197067T>C	ENST00000362065.4	+	2	492	c.201T>C	c.(199-201)aaT>aaC	p.N67N	FAN1_ENST00000565466.1_Silent_p.N67N|FAN1_ENST00000561607.1_Silent_p.N67N|FAN1_ENST00000561594.1_Silent_p.N67N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	67					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTGCTAACAATGACTTCGTTC	0.413								Direct reversal of damage																														uc001zff.2		NA																	0					0						c.(199-201)AAT>AAC	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							84.0	82.0	83.0					15																	31197067		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197067T>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.201T>C	15.37:g.31197067T>C						MTMR15_uc001zfc.3_Silent_p.N67N|MTMR15_uc010azw.2_Silent_p.N67N|MTMR15_uc001zfd.3_Silent_p.N67N|MTMR15_uc001zfe.2_5'UTR	p.N67N	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	492	+		all_lung(180;2.23e-09)	67			UBZ-type.		A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.201T>C	CCDS32186.1																																																																																				0.413	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		19	51	0	0	0	0	19	51				
WDR90	197335	broad.mit.edu	37	16	715685	715685	+	Missense_Mutation	SNP	G	G	A	rs150784706		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:715685G>A	ENST00000293879.4	+	35	4318	c.4318G>A	c.(4318-4320)Gag>Aag	p.E1440K	WDR90_ENST00000547944.1_Missense_Mutation_p.E39K|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000549091.1_Missense_Mutation_p.E1442K|WDR90_ENST00000315764.4_Missense_Mutation_p.E39K|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGAACGAGGTGGTCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14161	0.0		0.001	False		,,,				2504	0.0					uc002cii.1		NA																	0				ovary(1)	1						c.(4318-4320)GAG>AAG		WD repeat domain 90							50.0	59.0	56.0					16																	715685		2043	4182	6225	SO:0001583	missense	197335							g.chr16:715685G>A	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.4318G>A	16.37:g.715685G>A	ENSP00000293879:p.Glu1440Lys					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E55K|WDR90_uc010uul.1_Missense_Mutation_p.E39K|WDR90_uc002cio.1_Missense_Mutation_p.E39K|WDR90_uc010bqx.1_Missense_Mutation_p.E39K|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.E1440K	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			35	4372	+		Hepatocellular(780;0.0218)	1440			WD 17.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4318G>A	CCDS42092.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.42	2.829314	0.50845	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.53	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.632758	0.16404	N	0.215885	T	0.45115	0.1326	N	0.12920	0.275	0.48511	D	0.999664	D;D;D;D	0.65815	0.961;0.967;0.995;0.984	B;B;P;P	0.45099	0.305;0.373;0.469;0.453	T	0.42430	-0.9452	10	0.29301	T	0.29	.	16.2401	0.82402	0.0:0.0:1.0:0.0	.	39;39;39;1440	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	K	1442;1440;39;39	ENSP00000448122:E1442K;ENSP00000293879:E1440K;ENSP00000449576:E39K;ENSP00000322808:E39K	ENSP00000293879:E1440K	E	+	1	0	WDR90	655686	1.000000	0.71417	0.939000	0.37840	0.022000	0.10575	7.405000	0.80007	2.086000	0.62901	0.561000	0.74099	GAG		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		5	66	0	0	0	0	5	66				
PTX4	390667	broad.mit.edu	37	16	1536086	1536086	+	Missense_Mutation	SNP	C	C	T	rs371016282		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:1536086C>T	ENST00000447419.2	-	3	1316	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.D426N			Q96A99	PTX4_HUMAN	pentraxin 4, long	431	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGCGCCCGATCCCAGATAGCC	0.642																																						uc010uvf.1		NA																	0					0						c.(1276-1278)GAT>AAT		neuronal pentraxin II-like		C	ASN/ASP	1,4397	2.1+/-5.4	0,1,2198	68.0	66.0	67.0		1276	3.2	0.9	16		67	0,8600		0,0,4300	no	missense	PTX4	NM_001013658.1	23	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	426/474	1536086	1,12997	2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536086C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1291G>A	16.37:g.1536086C>T	ENSP00000445277:p.Asp431Asn						p.D426N	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			3	1276	-			431			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1276G>A		.	.	.	.	.	.	.	.	.	.	C	8.421	0.846375	0.16963	2.27E-4	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.61980	0.06;0.06	5.21	3.25	0.37280	.	0.293617	0.33040	N	0.005358	T	0.51210	0.1661	L	0.48260	1.515	0.37669	D	0.923058	P	0.36633	0.562	B	0.36922	0.236	T	0.55088	-0.8195	10	0.72032	D	0.01	.	5.6606	0.17667	0.0:0.6632:0.1627:0.1742	.	426	Q96A99-2	.	N	431;426	ENSP00000445277:D431N;ENSP00000293922:D426N	ENSP00000293922:D426N	D	-	1	0	PTX4	1476087	1.000000	0.71417	0.930000	0.37139	0.012000	0.07955	0.602000	0.24134	0.603000	0.29913	-0.251000	0.11542	GAT		0.642	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		12	62	0	0	0	0	12	62				
TRAP1	10131	broad.mit.edu	37	16	3726128	3726128	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3726128G>A	ENST00000246957.5	-	7	811	c.723C>T	c.(721-723)atC>atT	p.I241I	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Silent_p.I188I|TRAP1_ENST00000575671.1_Silent_p.I32I	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	241					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				AAGCTTCGGCGATTTCAAACA	0.557																																						uc002cvt.3		NA																	0				central_nervous_system(1)	1						c.(721-723)ATC>ATT		TNF receptor-associated protein 1 precursor							85.0	82.0	83.0					16																	3726128		2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3726128G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.723C>T	16.37:g.3726128G>A						TRAP1_uc002cvs.2_Silent_p.I32I|TRAP1_uc010uxf.1_Silent_p.I188I	p.I241I	NM_016292	NP_057376	Q12931	TRAP1_HUMAN			7	812	-		Ovarian(90;0.0261)	241					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.723C>T	CCDS10508.1																																																																																				0.557	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		18	54	0	0	0	0	18	54				
CREBBP	1387	broad.mit.edu	37	16	3779591	3779591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3779591G>T	ENST00000262367.5	-	31	6266	c.5457C>A	c.(5455-5457)tgC>tgA	p.C1819*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.C1781*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1819	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGCTGCTTGCACACCGGGC	0.607			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5455-5457)TGC>TGA		CREB binding protein isoform a							133.0	114.0	121.0					16																	3779591		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779591G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5457C>A	16.37:g.3779591G>T	ENSP00000262367:p.Cys1819*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.C1781*	p.C1819*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	5661	-		Ovarian(90;0.0266)	1819			TAZ-type 2.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.5457C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	49	15.874375	0.99847	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.35	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5591	12.2685	0.54691	0.1401:0.0:0.8599:0.0	.	.	.	.	X	1819;1849;1781;354	.	ENSP00000262367:C1819X	C	-	3	2	CREBBP	3719592	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.716000	0.68437	0.627000	0.30340	-0.216000	0.12614	TGC		0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		31	97	1	0	1.4e-14	1.62e-14	31	97				
KIAA0430	9665	broad.mit.edu	37	16	15716857	15716857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:15716857T>C	ENST00000396368.3	-	11	2600	c.2394A>G	c.(2392-2394)atA>atG	p.I798M	KIAA0430_ENST00000602337.1_Missense_Mutation_p.I795M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.I798M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.I795M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.I633M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.I467M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	798	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATCTGTAGTCTATGTTGCTGA	0.498																																						uc002ddr.2		NA																	0					0						c.(2392-2394)ATA>ATG		limkain b1							85.0	84.0	84.0					16																	15716857		1907	4129	6036	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15716857T>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2394A>G	16.37:g.15716857T>C	ENSP00000379654:p.Ile798Met					KIAA0430_uc002ddq.2_Missense_Mutation_p.I632M|KIAA0430_uc010uzv.1_Missense_Mutation_p.I794M|KIAA0430_uc010uzw.1_Missense_Mutation_p.I797M	p.I798M	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			11	2587	-			797			RRM.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2394A>G	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286696	0.59867	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.82	-5.37	0.02681	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.623860	0.16161	N	0.226756	T	0.28200	0.0696	L	0.40543	1.245	0.32861	D	0.507955	P;P;P;P	0.42757	0.631;0.789;0.789;0.498	B;P;P;B	0.45856	0.274;0.495;0.495;0.141	T	0.38200	-0.9672	9	0.66056	D	0.02	.	1.0441	0.01565	0.1584:0.2441:0.2563:0.3411	.	797;795;794;797	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	M	798;633;797;467;795;798;645	.	ENSP00000315718:I797M	I	-	3	3	KIAA0430	15624358	0.972000	0.33761	0.247000	0.24249	0.918000	0.54935	0.027000	0.13621	-0.692000	0.05128	-0.321000	0.08615	ATA		0.498	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		4	96	0	0	0	0	4	96				
HS3ST2	9956	broad.mit.edu	37	16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:22926408G>A	ENST00000261374.3	+	2	1063	c.629G>A	c.(628-630)cGt>cAt	p.R210H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	210					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.R210H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587																																						uc002dli.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|pancreas(1)	2						c.(628-630)CGT>CAT		heparan sulfate D-glucosaminyl							133.0	116.0	122.0					16																	22926408		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926408G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.629G>A	16.37:g.22926408G>A	ENSP00000261374:p.Arg210His					HS3ST2_uc002dlj.2_RNA	p.R210H	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	701	+			210			PAPS and substrate (By similarity).|Lumenal (Potential).		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.629G>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005896	0.74932	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83250	-1.7	5.07	4.11	0.48088	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96285	0.9209	10	0.87932	D	0	.	14.7047	0.69179	0.0:0.1454:0.8546:0.0	.	210	Q9Y278	HS3S2_HUMAN	H	210;218	ENSP00000261374:R210H	ENSP00000261374:R210H	R	+	2	0	HS3ST2	22833909	1.000000	0.71417	0.895000	0.35142	0.512000	0.34134	9.869000	0.99810	1.129000	0.42072	0.561000	0.74099	CGT		0.587	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		38	120	0	0	0	0	38	120				
SRCAP	10847	broad.mit.edu	37	16	30732558	30732558	+	Missense_Mutation	SNP	C	C	G	rs149248373	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:30732558C>G	ENST00000262518.4	+	21	3687	c.3302C>G	c.(3301-3303)aCg>aGg	p.T1101R	SRCAP_ENST00000395059.2_Missense_Mutation_p.T1101R|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1101	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGGCCTCCCACGCCAACCTTG	0.602																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(3301-3303)ACG>AGG		Snf2-related CBP activator protein							109.0	118.0	115.0					16																	30732558		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732558C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3302C>G	16.37:g.30732558C>G	ENSP00000262518:p.Thr1101Arg					SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.T958R|SRCAP_uc010bzz.1_Missense_Mutation_p.T671R	p.T1101R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3687	+			1101			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3302C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525821	0.27299	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91464	-2.85;-2.75	5.36	4.41	0.53225	.	.	.	.	.	T	0.80859	0.4704	N	0.14661	0.345	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.21151	0.033;0.015	T	0.75328	-0.3356	9	0.42905	T	0.14	-1.5386	7.321	0.26528	0.0:0.7419:0.17:0.0881	.	1101;1101	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	R	1101	ENSP00000262518:T1101R;ENSP00000378499:T1101R	ENSP00000262518:T1101R	T	+	2	0	SRCAP	30640059	0.102000	0.21896	0.924000	0.36721	0.955000	0.61496	1.191000	0.32138	1.499000	0.48617	0.557000	0.71058	ACG		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		31	134	0	0	0	0	31	134				
SF3B3	23450	broad.mit.edu	37	16	70602265	70602265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:70602265G>C	ENST00000302516.5	+	22	3243	c.3032G>C	c.(3031-3033)tGg>tCg	p.W1011S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1011					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTTTCATCTGGGTTCGCTAC	0.438																																						uc002ezf.2		NA																	0				ovary(1)	1						c.(3031-3033)TGG>TCG		splicing factor 3b, subunit 3							142.0	133.0	136.0					16																	70602265		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602265G>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3032G>C	16.37:g.70602265G>C	ENSP00000305790:p.Trp1011Ser						p.W1011S	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			22	3243	+		Ovarian(137;0.0694)	1011					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3032G>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944190	0.73672	.	.	ENSG00000189091	ENST00000302516	T	0.40756	1.02	5.81	5.81	0.92471	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.057806	0.85682	D	0.000000	T	0.45236	0.1332	L	0.40543	1.245	0.80722	D	1	B	0.19935	0.04	B	0.33121	0.158	T	0.37197	-0.9716	10	0.72032	D	0.01	-15.4975	20.0726	0.97729	0.0:0.0:1.0:0.0	.	1011	Q15393	SF3B3_HUMAN	S	1011	ENSP00000305790:W1011S	ENSP00000305790:W1011S	W	+	2	0	SF3B3	69159766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.675000	0.98638	2.738000	0.93877	0.655000	0.94253	TGG		0.438	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		13	67	0	0	0	0	13	67				
MYO1C	4641	broad.mit.edu	37	17	1375218	1375218	+	Silent	SNP	G	G	A	rs78672478	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:1375218G>A	ENST00000575158.1	-	19	2075	c.1899C>T	c.(1897-1899)taC>taT	p.Y633Y	MYO1C_ENST00000361007.2_Silent_p.Y633Y|MYO1C_ENST00000438665.2_Silent_p.Y649Y|MYO1C_ENST00000359786.5_Silent_p.Y668Y|MYO1C_ENST00000545534.2_Silent_p.Y644Y			Q12965	MYO1E_HUMAN	myosin IC	629	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAAAGCTTCGTATTTGCGGC	0.632													G|||	6	0.00119808	0.0	0.0029	5008	,	,		17468	0.0		0.004	False		,,,				2504	0.0					uc002fsp.2		NA																	0					0						c.(2002-2004)TAC>TAT		myosin IC isoform a		G	,,	7,4399	11.4+/-27.6	0,7,2196	68.0	69.0	68.0		2004,1947,1899	-9.3	0.6	17	dbSNP_133	68	40,8560	26.3+/-74.7	0,40,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	,,	0,47,6456	AA,AG,GG		0.4651,0.1589,0.3614	,,	668/1064,649/1045,633/1029	1375218	47,12959	2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1375218G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1899C>T	17.37:g.1375218G>A						MYO1C_uc002fsn.2_Silent_p.Y649Y|MYO1C_uc002fso.2_Silent_p.Y633Y|MYO1C_uc010vqj.1_Silent_p.Y633Y|MYO1C_uc010vqk.1_Silent_p.Y644Y	p.Y668Y	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	19	2224	-			668			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.2004C>T	CCDS11003.1																																																																																				0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	121	0	0	0	0	6	121				
TNFSF13	8741	broad.mit.edu	37	17	7462496	7462496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:7462496C>T	ENST00000338784.4	+	1	583	c.140C>T	c.(139-141)gCt>gTt	p.A47V	TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000396542.1_Missense_Mutation_p.A30V|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000349228.4_Missense_Mutation_p.A47V|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000380535.4_Missense_Mutation_p.A47V|TNFSF13_ENST00000396545.4_Missense_Mutation_p.A47V	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	47					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TGTGCCATGGCTCTGCTGACC	0.652																																						uc002ghk.2		NA																	0				skin(1)	1						c.(139-141)GCT>GTT		tumor necrosis factor ligand superfamily, member							13.0	15.0	14.0					17																	7462496		2192	4277	6469	SO:0001583	missense	8741				mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction	extracellular space|nucleoplasm	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7462496C>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.140C>T	17.37:g.7462496C>T	ENSP00000343505:p.Ala47Val					SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Missense_Mutation_p.A47V|TNFSF13_uc002ghl.2_Missense_Mutation_p.A47V|TNFSF13_uc010cmk.2_Missense_Mutation_p.A47V|TNFSF13_uc010vua.1_Missense_Mutation_p.A47V	p.A47V	NM_003808	NP_003799	O75888	TNF13_HUMAN			1	888	+		Prostate(122;0.157)	47					A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	37	c.140C>T	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002582	0.35320	.	.	ENSG00000161955	ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;T;T;D;D;D;D	0.98012	-4.66;1.33;1.28;-4.0;-4.03;-4.66;-4.03	4.87	3.88	0.44766	.	.	.	.	.	D	0.93423	0.7902	N	0.21142	0.635	0.33017	D	0.528304	B;B;B;B;B	0.14805	0.007;0.007;0.004;0.007;0.011	B;B;B;B;B	0.16722	0.007;0.007;0.011;0.007;0.016	D	0.91573	0.5273	9	0.26408	T	0.33	-3.8423	8.7382	0.34541	0.0:0.8887:0.0:0.1113	.	47;47;47;47;47	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3	.;.;.;TNF13_HUMAN;.	V	30;30;30;47;47;47;47	ENSP00000379792:A30V;ENSP00000390771:A30V;ENSP00000410094:A30V;ENSP00000314455:A47V;ENSP00000343505:A47V;ENSP00000369908:A47V;ENSP00000379794:A47V	ENSP00000343505:A47V	A	+	2	0	TNFSF13	7403220	0.986000	0.35501	0.998000	0.56505	0.998000	0.95712	1.530000	0.36007	1.114000	0.41781	0.655000	0.94253	GCT		0.652	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		5	28	0	0	0	0	5	28				
MYH4	4622	broad.mit.edu	37	17	10369674	10369674	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:10369674G>C	ENST00000255381.2	-	4	374	c.264C>G	c.(262-264)atC>atG	p.I88M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	88	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCATGTCCTCGATCTTGTCAT	0.438																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(262-264)ATC>ATG		myosin, heavy polypeptide 4, skeletal muscle							251.0	221.0	231.0					17																	10369674		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369674G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.264C>G	17.37:g.10369674G>C	ENSP00000255381:p.Ile88Met					uc002gml.1_Intron	p.I88M	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	375	-			88			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.264C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078271	0.55753	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	T	0.72167	-0.63	4.74	-5.37	0.02681	Myosin head, motor domain (1);	0.000000	0.37857	U	0.001913	T	0.75170	0.3813	M	0.80183	2.485	0.80722	D	1	B	0.23185	0.081	P	0.45099	0.469	T	0.67369	-0.5688	10	0.52906	T	0.07	.	9.988	0.41854	0.5717:0.0:0.3386:0.0897	.	88	Q9Y623	MYH4_HUMAN	M	88	ENSP00000255381:I88M	ENSP00000431873:I88M	I	-	3	3	MYH2;MYH4	10310399	0.244000	0.23889	0.816000	0.32577	0.978000	0.69477	-0.303000	0.08210	-1.211000	0.02624	-0.813000	0.03139	ATC		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		30	103	0	0	0	0	30	103				
CSH2	1443	broad.mit.edu	37	17	61950577	61950577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:61950577G>A	ENST00000392886.2	-	2	284	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Missense_Mutation_p.R45C|CSH2_ENST00000345366.7_Missense_Mutation_p.R45C	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	45						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						TGGTGCGCGCGATGGGCTTGG	0.592																																						uc002jch.2		NA																	0					0						c.(133-135)CGC>TGC		chorionic somatomammotropin hormone 2 isoform 1							74.0	73.0	73.0					17																	61950577		2202	4300	6502	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950577G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.133C>T	17.37:g.61950577G>A	ENSP00000376623:p.Arg45Cys					CSH2_uc002jcg.2_Missense_Mutation_p.R45C|CSH2_uc002jci.2_Missense_Mutation_p.R45C|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.R45C	p.R45C	NM_020991	NP_066271	P01243	CSH_HUMAN			2	248	-			45					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.133C>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.664162	0.47572	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.89270	-2.49;-2.49;-2.49	4.42	4.42	0.53409	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.155182	0.56097	D	0.000021	D	0.94258	0.8156	M	0.86028	2.79	0.38545	D	0.949323	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.966;0.983;0.966;0.99	D	0.95628	0.8687	10	0.87932	D	0	.	12.5129	0.56015	0.0:0.0:1.0:0.0	.	45;45;45;45	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	C	45	ENSP00000308396:R45C;ENSP00000338816:R45C;ENSP00000376623:R45C	ENSP00000338816:R45C	R	-	1	0	CSH2	59304309	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	5.409000	0.66374	1.995000	0.58328	0.561000	0.74099	CGC		0.592	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		20	102	0	0	0	0	20	102				
KCNJ2	3759	broad.mit.edu	37	17	68172221	68172221	+	Silent	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:68172221T>G	ENST00000243457.3	+	2	1424	c.1041T>G	c.(1039-1041)acT>acG	p.T347T	KCNJ2_ENST00000535240.1_Silent_p.T347T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	347					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCCACAAAACTTACGAAGTCC	0.418																																						uc010dfg.2		NA																	0					0						c.(1039-1041)ACT>ACG		potassium inwardly-rectifying channel J2							96.0	101.0	99.0					17																	68172221		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172221T>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1041T>G	17.37:g.68172221T>G						KCNJ2_uc002jir.2_Silent_p.T347T	p.T347T	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1442	+	Breast(10;1.64e-08)		347			Cytoplasmic (By similarity).		O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.1041T>G	CCDS11688.1																																																																																				0.418	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		22	136	0	0	0	0	22	136				
POTEC	388468	broad.mit.edu	37	18	14543020	14543020	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr18:14543020G>T	ENST00000358970.5	-	1	125	c.126C>A	c.(124-126)aaC>aaA	p.N42K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	42										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTGCCCATGTTGCTCTTGC	0.587																																						uc010dln.2		NA																	0				skin(3)	3						c.(124-126)AAC>AAA		ANKRD26-like family B, member 2							84.0	74.0	77.0					18																	14543020		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543020G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.126C>A	18.37:g.14543020G>T	ENSP00000351856:p.Asn42Lys					POTEC_uc010xaj.1_RNA	p.N42K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	580	-			42						Missense_Mutation	SNP	ENST00000358970.5	37	c.126C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.382991	0.25031	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.35048	1.33	0.722	0.722	0.18225	.	.	.	.	.	T	0.47060	0.1425	L	0.43152	1.355	0.09310	N	1	D	0.64830	0.994	D	0.72338	0.977	T	0.26643	-1.0097	8	0.87932	D	0	.	.	.	.	.	42	B2RU33	POTEC_HUMAN	K	42	ENSP00000351856:N42K	ENSP00000351856:N42K	N	-	3	2	POTEC	14533020	0.001000	0.12720	0.002000	0.10522	0.072000	0.16883	1.039000	0.30266	0.668000	0.31126	0.186000	0.17326	AAC		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		11	193	1	0	2.49e-13	2.84e-13	11	193				
TJP3	27134	broad.mit.edu	37	19	3734415	3734415	+	Missense_Mutation	SNP	G	G	T	rs554862128	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:3734415G>T	ENST00000541714.2	+	8	1430	c.968G>T	c.(967-969)aGc>aTc	p.S323I	TJP3_ENST00000262968.9_Missense_Mutation_p.S356I|TJP3_ENST00000539908.2_Missense_Mutation_p.S287I|TJP3_ENST00000587686.1_Missense_Mutation_p.S342I|TJP3_ENST00000382008.3_Missense_Mutation_p.S337I|TJP3_ENST00000589378.1_Missense_Mutation_p.S332I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	323					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGAGGCCAGCCAGACCGAC	0.657																																						uc010xhv.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1066-1068)AGC>ATC		tight junction protein 3							51.0	47.0	49.0					19																	3734415		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3734415G>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.968G>T	19.37:g.3734415G>T	ENSP00000439278:p.Ser323Ile					TJP3_uc010xhs.1_Missense_Mutation_p.S323I|TJP3_uc010xht.1_Missense_Mutation_p.S287I|TJP3_uc010xhu.1_Missense_Mutation_p.S332I|TJP3_uc010xhw.1_Missense_Mutation_p.S342I	p.S356I	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1067	+			337					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1067G>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967898	0.53507	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09817	2.94;3.09;2.99;3.09	4.28	2.1	0.27182	.	1.180580	0.05960	N	0.640371	T	0.09423	0.0232	L	0.32530	0.975	0.09310	N	0.999997	P;B;B;B	0.34724	0.465;0.051;0.335;0.328	B;B;B;B	0.33521	0.165;0.097;0.116;0.165	T	0.35919	-0.9769	10	0.59425	D	0.04	.	4.9873	0.14196	0.2001:0.1726:0.6273:0.0	.	342;356;337;323	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	I	323;287;337;356	ENSP00000439278:S323I;ENSP00000439991:S287I;ENSP00000371438:S337I;ENSP00000262968:S356I	ENSP00000262968:S356I	S	+	2	0	TJP3	3685415	0.009000	0.17119	0.023000	0.16930	0.524000	0.34500	0.575000	0.23729	0.373000	0.24621	0.561000	0.74099	AGC		0.657	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			5	29	1	0	3.6e-05	3.95e-05	5	29				
CREB3L3	84699	broad.mit.edu	37	19	4171778	4171778	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:4171778G>A	ENST00000078445.2	+	10	1345	c.1198G>A	c.(1198-1200)Ggg>Agg	p.G400R	CREB3L3_ENST00000252587.3_Silent_p.P288P|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G398R|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G399R|CREB3L3_ENST00000602147.1_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	400					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGCCCCGGGGCAGACTG	0.667																																						uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(1198-1200)GGG>AGG		cAMP responsive element binding protein 3-like							40.0	50.0	47.0					19																	4171778		2202	4297	6499	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171778G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1198G>A	19.37:g.4171778G>A	ENSP00000078445:p.Gly400Arg					CREB3L3_uc002lzm.2_Missense_Mutation_p.G390R|CREB3L3_uc010xib.1_Missense_Mutation_p.G389R|CREB3L3_uc010xic.1_3'UTR	p.G400R	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1314	+			400			Lumenal (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.1198G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	0.538	-0.855033	0.02630	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.82619	-1.63	3.27	-6.54	0.01860	.	2.205170	0.01597	N	0.021841	T	0.66297	0.2775	N	0.16478	0.41	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.57051	-0.7877	10	0.15499	T	0.54	-20.6249	7.2397	0.26090	0.6408:0.1406:0.2186:0.0	.	398;399;400	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	R	400;358	ENSP00000078445:G400R	ENSP00000078445:G400R	G	+	1	0	CREB3L3	4122778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.828000	0.01702	-1.555000	0.01697	-1.036000	0.02392	GGG		0.667	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		29	83	0	0	0	0	29	83				
U2AF1L4	199746	broad.mit.edu	37	19	36233655	36233655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:36233655G>A	ENST00000412391.2	-	8	641	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	IGFLR1_ENST00000588992.1_5'Flank|U2AF1L4_ENST00000292879.5_Silent_p.I151I|PSENEN_ENST00000591949.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000587101.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R171W|IGFLR1_ENST00000344990.3_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	210					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGAACACCGATGGTTCCTC	0.597																																						uc002obg.2		NA																	0					0						c.(523-525)ATC>ATT		Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.							86.0	96.0	93.0					19																	36233655		2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36233655G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.628C>T	19.37:g.36233655G>A	ENSP00000397645:p.Arg210Trp					TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.R171W|U2AF1L4_uc002obf.2_Silent_p.I151I|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank	p.I175I			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	834	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q8WU68_after_alignment					A6NKI8|Q56UU3	Silent	SNP	ENST00000412391.2	37	c.525C>T		.	.	.	.	.	.	.	.	.	.	G	13.95	2.388863	0.42308	.	.	ENSG00000161265	ENST00000378975;ENST00000412391	.	.	.	5.46	-9.76	0.00503	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	7	0.72032	D	0.01	.	5.4036	0.16308	0.4639:0.0:0.1648:0.3713	.	171	Q8WU68-3	.	W	171;210	.	ENSP00000368258:R171W	R	-	1	2	U2AF1L4	40925495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.431000	0.06965	-1.266000	0.02446	-0.253000	0.11424	CGG		0.597	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		32	133	0	0	0	0	32	133				
ITPKC	80271	broad.mit.edu	37	19	41239201	41239201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:41239201C>T	ENST00000263370.2	+	4	1639	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	536	Substrate binding.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CACCAAGCCCCGCTACATGCA	0.642																																						uc002oot.2		NA																	0					0						c.(1606-1608)CGC>TGC		inositol 1,4,5-trisphosphate 3-kinase C							48.0	42.0	44.0					19																	41239201		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41239201C>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1606C>T	19.37:g.41239201C>T	ENSP00000263370:p.Arg536Cys						p.R536C	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1639	+			536			Substrate binding.		Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1606C>T	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184919	0.57909	.	.	ENSG00000086544	ENST00000263370	T	0.19105	2.17	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.83774	2.66	0.80722	D	1	D	0.60160	0.987	P	0.51777	0.679	T	0.47761	-0.9092	10	0.87932	D	0	-9.972	18.7851	0.91951	0.0:1.0:0.0:0.0	.	536	Q96DU7	IP3KC_HUMAN	C	536	ENSP00000263370:R536C	ENSP00000263370:R536C	R	+	1	0	ITPKC	45931041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.834000	0.62774	2.799000	0.96334	0.644000	0.83932	CGC		0.642	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		4	15	0	0	0	0	4	15				
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:178098804C>A	ENST00000397062.3	-	2	795	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGAAATTCACCTGTCTCTTCA	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(3)|Deletion - In frame(1)		lung(2)|liver(1)|endometrium(1)	central_nervous_system(1)	1						c.(241-243)GGT>TGT		nuclear factor erythroid 2-like 2 isoform 1							143.0	142.0	142.0					2																	178098804		1901	4105	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098804C>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.241G>T	2.37:g.178098804C>A	ENSP00000380252:p.Gly81Cys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G65C|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65C|NFE2L2_uc002uli.3_Missense_Mutation_p.G65C|NFE2L2_uc010fra.2_Missense_Mutation_p.G65C|NFE2L2_uc010frb.2_Missense_Mutation_p.G65C	p.G81C	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	796	-			81					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.241G>T	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.125375|4.125375	0.77436|0.77436	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T|T;T;T;T;T;T	0.29142|0.53423	1.58|1.18;1.18;1.18;0.62;0.62;1.18	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75110|0.75110	0.3805|0.3805	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.78563|0.78563	-0.2156|-0.2156	7|10	0.31617|0.87932	T|D	0.26|0	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	S|C	65|65;81;65;65;65;65	ENSP00000391590:A65S|ENSP00000380253:G65C;ENSP00000380252:G81C;ENSP00000411575:G65C;ENSP00000400073:G65C;ENSP00000412191:G65C;ENSP00000410015:G65C	ENSP00000391590:A65S|ENSP00000380252:G81C	A|G	-|-	1|1	0|0	NFE2L2|NFE2L2	177807050|177807050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.995000|0.995000	0.86356|0.86356	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GCA|GGT		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		46	68	1	0	1.43e-14	1.65e-14	46	68				
TTN	7273	broad.mit.edu	37	2	179600758	179600758	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:179600758T>C	ENST00000591111.1	-	48	13688	c.13464A>G	c.(13462-13464)acA>acG	p.T4488T	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3561T|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.T4805T|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12243	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAAAAGTTGTAAGGGACT	0.458																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10681-10683)ACA>ACG		titin isoform N2-A							68.0	65.0	66.0					2																	179600758		1917	4132	6049	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600758T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13464A>G	2.37:g.179600758T>C						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T222T	p.T3561T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	10907	-			4488					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10683A>G																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	54	0	0	0	0	25	54				
SP140	11262	broad.mit.edu	37	2	231155199	231155199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:231155199C>A	ENST00000392045.3	+	19	1859	c.1745C>A	c.(1744-1746)aCt>aAt	p.T582N	SP140_ENST00000486687.2_Missense_Mutation_p.T506N|SP140_ENST00000350136.5_Missense_Mutation_p.T451N|SP140_ENST00000420434.3_Missense_Mutation_p.T555N|SP140_ENST00000417495.3_Missense_Mutation_p.T468N|SP140_ENST00000343805.6_Missense_Mutation_p.T522N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	582	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAACTGTGGATTTT	0.428																																						uc002vql.2		NA																	0					0						c.(1744-1746)ACT>AAT		SP140 nuclear body protein isoform 1							158.0	150.0	153.0					2																	231155199		1878	4109	5987	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231155199C>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1745C>A	2.37:g.231155199C>A	ENSP00000375899:p.Thr582Asn					SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.T468N|SP140_uc002vqm.2_Missense_Mutation_p.T522N|SP140_uc010fxl.2_Missense_Mutation_p.T555N	p.T582N	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	19	1860	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	582			SAND.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1745C>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366045	0.24684	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	3.06	-5.41	0.02648	SAND domain-like (2);SAND domain (2);	.	.	.	.	T	0.64538	0.2607	L	0.33137	0.985	0.09310	N	1	D;D;D;P	0.76494	0.999;0.981;0.989;0.801	D;D;D;B	0.75020	0.958;0.95;0.985;0.405	T	0.55418	-0.8144	9	0.20519	T	0.43	5.481	0.6208	0.00778	0.2579:0.3386:0.1659:0.2375	.	555;468;522;582	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	N	506;451;582;468;522;555	ENSP00000440107:T506N;ENSP00000345846:T451N;ENSP00000375899:T582N;ENSP00000342096:T522N;ENSP00000398210:T555N	ENSP00000342096:T522N	T	+	2	0	SP140	230863443	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	-2.220000	0.01217	-1.005000	0.03417	0.456000	0.33151	ACT		0.428	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		34	104	1	0	4.03e-09	4.52e-09	34	104				
SPATA25	128497	broad.mit.edu	37	20	44516182	44516182	+	Silent	SNP	G	G	A	rs535223101		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:44516182G>A	ENST00000372519.3	-	1	92	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	16					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACCTTGGCCGGAAGGCAGAG	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.0					uc002xqf.2		NA																	0					0						c.(46-48)TCC>TCT		chromosome 20 open reading frame 165							85.0	73.0	77.0					20																	44516182		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44516182G>A	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.48C>T	20.37:g.44516182G>A							p.S16S	NM_080608	NP_542175	Q9BR10	CT165_HUMAN			1	57	-		Myeloproliferative disorder(115;0.0122)	16						Silent	SNP	ENST00000372519.3	37	c.48C>T	CCDS13383.1																																																																																				0.607	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			9	45	0	0	0	0	9	45				
ZFP64	55734	broad.mit.edu	37	20	50803572	50803572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:50803572C>A	ENST00000216923.4	-	2	434	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	ZFP64_ENST00000371518.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000371515.4_Missense_Mutation_p.D27Y|ZFP64_ENST00000361387.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000346617.4_Missense_Mutation_p.D29Y	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	29					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)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATATGGATGTCGGGAGTCAGC	0.512																																						uc002xwl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(85-87)GAC>TAC		zinc finger protein 64 isoform a							67.0	60.0	63.0					20																	50803572		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803572C>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.85G>T	20.37:g.50803572C>A	ENSP00000216923:p.Asp29Tyr					ZFP64_uc002xwk.2_Missense_Mutation_p.D29Y|ZFP64_uc002xwm.2_Missense_Mutation_p.D27Y|ZFP64_uc002xwn.2_Missense_Mutation_p.D29Y	p.D29Y	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			2	434	-			29					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.85G>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696219	0.68386	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000371516	T;T;T;T;T	0.24151	2.23;2.2;1.87;2.56;2.08	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000029	T	0.52058	0.1711	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;0.999	T	0.53989	-0.8360	10	0.72032	D	0.01	-28.9466	18.9332	0.92574	0.0:1.0:0.0:0.0	.	29;27;29;29	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	Y	29;29;29;29;27;29	ENSP00000360573:D29Y;ENSP00000355179:D29Y;ENSP00000216923:D29Y;ENSP00000344615:D29Y;ENSP00000360570:D27Y	ENSP00000216923:D29Y	D	-	1	0	ZFP64	50236979	1.000000	0.71417	0.951000	0.38953	0.500000	0.33767	6.563000	0.73964	2.481000	0.83766	0.655000	0.94253	GAC		0.512	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		8	31	1	0	5.49e-09	6.14e-09	8	31				
COL6A1	1291	broad.mit.edu	37	21	47412128	47412128	+	Silent	SNP	C	C	T	rs140478280		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr21:47412128C>T	ENST00000361866.3	+	17	1347	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	411	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.D411D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGCGGGCGACGAGGTGAGTG	0.627																																						uc002zhu.1		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(1)	1						c.(1231-1233)GAC>GAT		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)	C		2,4396	4.2+/-10.8	0,2,2197	53.0	60.0	58.0		1233	-2.8	0.9	21	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	COL6A1	NM_001848.2		0,2,6497	TT,TC,CC		0.0,0.0455,0.0154		411/1029	47412128	2,12996	2199	4300	6499	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47412128C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1233C>T	21.37:g.47412128C>T							p.D411D	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	17	1335	+	all_hematologic(128;0.24)		411			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1233C>T	CCDS13727.1																																																																																				0.627	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	32	0	0	0	0	7	32				
TMEM207	131920	broad.mit.edu	37	3	190158157	190158157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr3:190158157C>A	ENST00000354905.2	-	4	246	c.180G>T	c.(178-180)ttG>ttT	p.L60F		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	60						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GAGCTGCCACCAAAACCAGCA	0.517																																						uc003fsj.2		NA																	0					0						c.(178-180)TTG>TTT		transmembrane protein 207 precursor							42.0	39.0	40.0					3																	190158157		2203	4300	6503	SO:0001583	missense	131920					integral to membrane		g.chr3:190158157C>A	BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.180G>T	3.37:g.190158157C>A	ENSP00000346981:p.Leu60Phe						p.L60F	NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	4	247	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		60			Helical; (Potential).			Missense_Mutation	SNP	ENST00000354905.2	37	c.180G>T	CCDS3297.1	.	.	.	.	.	.	.	.	.	.	C	1.213	-0.629161	0.03610	.	.	ENSG00000198398	ENST00000354905	T	0.15017	2.46	6.07	4.29	0.51040	.	0.446541	0.21191	N	0.078641	T	0.05410	0.0143	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30297	-0.9983	10	0.39692	T	0.17	-3.0743	8.6314	0.33922	0.0807:0.155:0.7642:0.0	.	60	Q6UWW9	TM207_HUMAN	F	60	ENSP00000346981:L60F	ENSP00000346981:L60F	L	-	3	2	TMEM207	191640851	0.005000	0.15991	0.024000	0.17045	0.000000	0.00434	0.749000	0.26320	0.915000	0.36847	-0.841000	0.03054	TTG		0.517	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316		9	32	1	0	0.000274275	0.000296716	9	32				
UGT2B7	7364	broad.mit.edu	37	4	69962247	69962247	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:69962247G>A	ENST00000508661.1	+	1	36	c.9G>A	c.(7-9)gtG>gtA	p.V3V	UGT2B7_ENST00000305231.7_Silent_p.V3V|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	3					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGATGTCTGTGAAATGGACTT	0.408																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(7-9)GTG>GTA		UDP glucuronosyltransferase 2B7 precursor							121.0	119.0	120.0					4																	69962247		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962247G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.9G>A	4.37:g.69962247G>A						UGT2B7_uc010ihq.2_Silent_p.V3V	p.V3V	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	55	+			3					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.9G>A																																																																																					0.408	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		15	77	0	0	0	0	15	77				
CHD1	1105	broad.mit.edu	37	5	98205532	98205532	+	Missense_Mutation	SNP	T	T	C	rs139215644	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:98205532T>C	ENST00000284049.3	-	29	4182	c.4033A>G	c.(4033-4035)Ata>Gta	p.I1345V	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1345					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCACTTTTATAGACTTCATT	0.308													T|||	13	0.00259585	0.0	0.0	5008	,	,		16386	0.0		0.003	False		,,,				2504	0.0102					uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(4033-4035)ATA>GTA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	136.0	126.0	130.0		4033	-0.1	0.9	5	dbSNP_134	130	15,8583	11.2+/-40.8	0,15,4284	yes	missense	CHD1	NM_001270.2	29	0,17,6485	CC,CT,TT		0.1745,0.0454,0.1307	benign	1345/1711	98205532	17,12987	2203	4299	6502	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98205532T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4033A>G	5.37:g.98205532T>C	ENSP00000284049:p.Ile1345Val					CHD1_uc010jbn.2_Missense_Mutation_p.I71V	p.I1345V	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	29	4181	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1345					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4033A>G	CCDS34204.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	8.522	0.868936	0.17322	4.54E-4	0.001745	ENSG00000153922	ENST00000284049	D	0.89123	-2.47	4.87	-0.126	0.13515	.	0.824068	0.09805	N	0.753602	T	0.69806	0.3152	N	0.02539	-0.55	0.23298	N	0.997952	B	0.02656	0.0	B	0.01281	0.0	T	0.58025	-0.7709	10	0.27785	T	0.31	.	5.4768	0.16700	0.1588:0.4786:0.0:0.3626	.	1345	O14646	CHD1_HUMAN	V	1345	ENSP00000284049:I1345V	ENSP00000284049:I1345V	I	-	1	0	CHD1	98233432	0.556000	0.26538	0.945000	0.38365	0.797000	0.45037	0.144000	0.16135	0.085000	0.17107	-1.070000	0.02257	ATA		0.308	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		3	32	0	0	0	0	3	32				
SAP30L	79685	broad.mit.edu	37	5	153826344	153826344	+	Silent	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153826344C>A	ENST00000297109.6	+	1	828	c.180C>A	c.(178-180)ctC>ctA	p.L60L	SAP30L-AS1_ENST00000522312.1_RNA|SAP30L_ENST00000440364.2_Silent_p.L60L|SAP30L_ENST00000426761.2_Silent_p.L60L|SAP30L_ENST00000523198.1_3'UTR|SAP30L-AS1_ENST00000501280.3_RNA|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAAGAAACTCAAGCTGGACA	0.687																																						uc003lvk.2		NA																	0					0						c.(178-180)CTC>CTA		SAP30-like isoform 1							21.0	20.0	20.0					5																	153826344		2176	4266	6442	SO:0001819	synonymous_variant	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153826344C>A	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.180C>A	5.37:g.153826344C>A						uc003lvi.2_5'Flank|SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Silent_p.L60L|SAP30L_uc011ddd.1_Silent_p.L60L	p.L60L	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		1	828	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	60			Atypical.		E9PAU7|E9PAY2	Silent	SNP	ENST00000297109.6	37	c.180C>A	CCDS4326.1																																																																																				0.687	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		5	12	1	0	1.24e-05	1.37e-05	5	12				
KLHL31	401265	broad.mit.edu	37	6	53519325	53519325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:53519325T>C	ENST00000407079.1	-	1	745	c.746A>G	c.(745-747)aAa>aGa	p.K249R	KLHL31_ENST00000370905.3_Missense_Mutation_p.K249R			Q9H511	KLH31_HUMAN	kelch-like family member 31	249	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCAGCGTATTTTACTCTCTT	0.373																																						uc003pcb.3		NA																	0				ovary(1)	1						c.(745-747)AAA>AGA		kelch repeat and BTB (POZ) domain containing 1							114.0	111.0	112.0					6																	53519325		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519325T>C		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.746A>G	6.37:g.53519325T>C	ENSP00000384644:p.Lys249Arg						p.K249R	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			2	887	-	Lung NSC(77;0.0158)		249			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.746A>G	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309247	0.23821	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.69926	-0.44;-0.44	6.04	3.68	0.42216	BTB/Kelch-associated (2);	0.083320	0.85682	N	0.000000	T	0.42471	0.1204	L	0.51422	1.61	0.44918	D	0.997936	B	0.09022	0.002	B	0.10450	0.005	T	0.43032	-0.9416	10	0.37606	T	0.19	.	10.111	0.42563	0.0:0.1341:0.0:0.8659	.	249	Q9H511	KLH31_HUMAN	R	249	ENSP00000359942:K249R;ENSP00000384644:K249R	ENSP00000359942:K249R	K	-	2	0	KLHL31	53627284	1.000000	0.71417	0.962000	0.40283	0.951000	0.60555	3.521000	0.53472	1.101000	0.41535	0.459000	0.35465	AAA		0.373	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		26	97	0	0	0	0	26	97				
HS3ST5	222537	broad.mit.edu	37	6	114379002	114379002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:114379002C>G	ENST00000312719.5	-	5	1648	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E154Q			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	154					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.E154K(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCTTTTCAATTGTGATT	0.383																																						uc003pwg.3		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|pancreas(1)	2						c.(460-462)GAA>CAA		heparan sulfate (glucosamine)							130.0	135.0	133.0					6																	114379002		2202	4300	6502	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379002C>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.460G>C	6.37:g.114379002C>G	ENSP00000427888:p.Glu154Gln					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E154Q	p.E154Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	492	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	154			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.460G>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764454	0.69878	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.66995	-0.24;-0.24	5.92	5.92	0.95590	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89165	0.3533	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	154	Q8IZT8	HS3S5_HUMAN	Q	154	ENSP00000427888:E154Q;ENSP00000440332:E154Q	ENSP00000427888:E154Q	E	-	1	0	HS3ST5	114485695	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.804000	0.96469	0.655000	0.94253	GAA		0.383	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		29	145	0	0	0	0	29	145				
QKI	9444	broad.mit.edu	37	6	163956139	163956139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:163956139G>T	ENST00000361752.3	+	4	1079	c.528G>T	c.(526-528)aaG>aaT	p.K176N	QKI_ENST00000424802.3_Missense_Mutation_p.K176N|QKI_ENST00000361195.2_Missense_Mutation_p.K176N|QKI_ENST00000392127.2_Missense_Mutation_p.K176N|QKI_ENST00000453779.2_Missense_Mutation_p.K176N|QKI_ENST00000275262.7_Missense_Mutation_p.K176N	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	176					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAGAAGTGAAGAAATTATTGG	0.343																																						uc003qui.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(526-528)AAG>AAT		quaking homolog, KH domain RNA binding isoform							99.0	107.0	104.0					6																	163956139		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163956139G>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.528G>T	6.37:g.163956139G>T	ENSP00000355094:p.Lys176Asn					QKI_uc003que.2_Missense_Mutation_p.K176N|QKI_uc003quf.2_Missense_Mutation_p.K176N|QKI_uc003qug.2_Missense_Mutation_p.K176N|QKI_uc003quh.2_Missense_Mutation_p.K176N|QKI_uc003quj.2_Missense_Mutation_p.K176N	p.K176N	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	4	1079	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	176					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.528G>T	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.59|14.59	2.581321|2.581321	0.46006|0.46006	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823	.|T;T;T;T;T;T;T;T	.|0.19806	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.56|5.56	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.06188	.|0.0160	L|L	0.32530|0.32530	0.975|0.975	0.52099|0.52099	D|D	0.999941|0.999941	.|P;B;P;B;B;P	.|0.34743	.|0.466;0.17;0.466;0.14;0.14;0.466	.|B;B;B;B;B;B	.|0.26517	.|0.062;0.07;0.062;0.043;0.062;0.043	.|T	.|0.11060	.|-1.0603	.|10	.|0.51188	.|T	.|0.08	-2.8611|-2.8611	6.6686|6.6686	0.23056|0.23056	0.2055:0.0:0.7945:0.0|0.2055:0.0:0.7945:0.0	.|.	.|176;176;176;176;176;176	.|Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.|.;QKI_HUMAN;.;.;.;.	X|N	73;10|176;176;176;176;176;176;121;121	.|ENSP00000408775:K176N;ENSP00000275262:K176N;ENSP00000375973:K176N;ENSP00000355094:K176N;ENSP00000354867:K176N;ENSP00000408382:K176N;ENSP00000440991:K121N;ENSP00000440599:K121N	.|ENSP00000275262:K176N	E|K	+|+	1|3	0|2	QKI|QKI	163876129|163876129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.948000|4.948000	0.63590|0.63590	2.604000|2.604000	0.88044|0.88044	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.343	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		24	96	1	0	1.75e-13	2.01e-13	24	96				
HGF	3082	broad.mit.edu	37	7	81381502	81381502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr7:81381502G>A	ENST00000222390.5	-	5	785	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HGF_ENST00000453411.1_Missense_Mutation_p.P182S|HGF_ENST00000444829.2_Missense_Mutation_p.P187S|HGF_ENST00000457544.2_Missense_Mutation_p.P182S|HGF_ENST00000423064.2_Missense_Mutation_p.P187S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.P187S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAACACCAGGGTCCCCCTTCT	0.443																																						uc003uhl.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(2)	4						c.(559-561)CCC>TCC		hepatocyte growth factor isoform 1							147.0	127.0	133.0					7																	81381502		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381502G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.559C>T	7.37:g.81381502G>A	ENSP00000222390:p.Pro187Ser					HGF_uc003uhm.2_Missense_Mutation_p.P182S|HGF_uc003uhn.1_Missense_Mutation_p.P187S|HGF_uc003uho.1_Missense_Mutation_p.P182S|HGF_uc003uhp.2_Missense_Mutation_p.P187S	p.P187S	NM_000601	NP_000592	P14210	HGF_HUMAN			5	724	-			187			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.559C>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195333	0.94960	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.95480	0.8559	10	0.72032	D	0.01	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	222;182;187;182;187	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	S	187;182;187;182;187;187	ENSP00000222390:P187S;ENSP00000391238:P182S;ENSP00000389854:P187S;ENSP00000408270:P182S;ENSP00000413829:P187S	ENSP00000222390:P187S	P	-	1	0	HGF	81219438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.966000	0.93397	2.880000	0.98712	0.655000	0.94253	CCC		0.443	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		8	31	0	0	0	0	8	31				
ZFAT	57623	broad.mit.edu	37	8	135614165	135614165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:135614165C>A	ENST00000377838.3	-	6	1971	c.1797G>T	c.(1795-1797)ttG>ttT	p.L599F	ZFAT_ENST00000520727.1_Missense_Mutation_p.L587F|ZFAT_ENST00000429442.2_Missense_Mutation_p.L587F|ZFAT_ENST00000520214.1_Missense_Mutation_p.L587F|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.L537F|ZFAT_ENST00000520356.1_Missense_Mutation_p.L587F	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	599					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TATCATTTTTCAACAAAAAAT	0.537																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(1795-1797)TTG>TTT		zinc finger protein 406 isoform ZFAT-1							42.0	44.0	43.0					8																	135614165		1933	4153	6086	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614165C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1797G>T	8.37:g.135614165C>A	ENSP00000367069:p.Leu599Phe					ZFAT_uc003yun.2_Missense_Mutation_p.L587F|ZFAT_uc003yuo.2_Missense_Mutation_p.L587F|ZFAT_uc010meh.2_Missense_Mutation_p.L587F|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.L587F|ZFAT_uc010mej.2_Missense_Mutation_p.L537F|ZFAT_uc003yur.2_Missense_Mutation_p.L587F	p.L599F	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1972	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		599					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1797G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361149	0.24684	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11712	2.81;2.76;2.75;2.75;2.76;2.79	5.38	1.46	0.22682	.	0.532223	0.16759	N	0.200688	T	0.08846	0.0219	L	0.32530	0.975	0.19300	N	0.999975	P;P;D;P	0.53462	0.716;0.893;0.96;0.664	B;B;P;B	0.48795	0.178;0.165;0.59;0.178	T	0.17930	-1.0353	10	0.10377	T	0.69	-2.6417	5.5399	0.17031	0.0:0.5583:0.1314:0.3102	.	537;587;587;599	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	F	587;587;587;599;587;486;537;587	ENSP00000427879:L587F;ENSP00000427831:L587F;ENSP00000394501:L587F;ENSP00000367069:L599F;ENSP00000428483:L587F;ENSP00000429091:L537F	ENSP00000326997:L486F	L	-	3	2	ZFAT	135683347	0.791000	0.28800	0.074000	0.20217	0.527000	0.34593	0.077000	0.14738	0.382000	0.24878	0.655000	0.94253	TTG		0.537	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		9	37	1	0	1.13e-05	1.25e-05	9	37				
SMC1A	8243	broad.mit.edu	37	X	53432540	53432540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:53432540C>T	ENST00000322213.4	-	11	1923	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R365H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	599	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGGCTCATAGCGAATCACATC	0.532																																						uc004dsg.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1795-1797)CGC>CAC		structural maintenance of chromosomes 1A							69.0	55.0	60.0					X																	53432540		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432540C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1796G>A	X.37:g.53432540C>T	ENSP00000323421:p.Arg599His					SMC1A_uc011moe.1_Missense_Mutation_p.R577H|SMC1A_uc011mof.1_Missense_Mutation_p.R365H	p.R599H	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			11	1865	-			599			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1796G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706666	0.68615	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86030	-2.06;-2.06	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.38953	1.18	0.80722	D	1	D;B;B	0.67145	0.996;0.263;0.198	D;B;B	0.69654	0.965;0.046;0.024	D	0.88783	0.3272	10	0.49607	T	0.09	.	17.4486	0.87586	0.0:1.0:0.0:0.0	.	365;577;599	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	599;365	ENSP00000323421:R599H;ENSP00000364489:R365H	ENSP00000323421:R599H	R	-	2	0	SMC1A	53449265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.811000	0.69187	2.476000	0.83614	0.600000	0.82982	CGC		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		32	14	0	0	0	0	32	14				
WDR44	54521	broad.mit.edu	37	X	117578415	117578415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:117578415G>A	ENST00000254029.3	+	19	3000	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	WDR44_ENST00000371825.3_Missense_Mutation_p.E861K|WDR44_ENST00000371822.5_Missense_Mutation_p.E780K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	869						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAAGGGAACGAGAAAAGTGA	0.393													G|||	4	0.0010596	0.0	0.0	3775	,	,		13106	0.0		0.0	False		,,,				2504	0.0041					uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(2605-2607)GAG>AAG		WD repeat domain 44 protein							148.0	132.0	137.0					X																	117578415		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117578415G>A	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2605G>A	X.37:g.117578415G>A	ENSP00000254029:p.Glu869Lys					WDR44_uc004eqo.2_Missense_Mutation_p.E861K|WDR44_uc011mtr.1_Missense_Mutation_p.E780K|WDR44_uc010nqi.2_Missense_Mutation_p.E579K	p.E869K	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			19	3030	+			869					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.2605G>A	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.116|4.116	0.019794|0.019794	0.08006|0.08006	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	T;T;T|.	0.73047|.	-0.71;-0.13;-0.0|.	5.29|5.29	1.03|1.03	0.20045|0.20045	.|.	1.077360|.	0.06910|.	N|.	0.807485|.	T|T	0.35998|0.35998	0.0951|0.0951	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26708|.	0.049;0.157;0.065;0.001|.	B;B;B;B|.	0.18263|.	0.021;0.014;0.02;0.001|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07030|.	T|.	0.85|.	0.1378|0.1378	8.8434|8.8434	0.35155|0.35155	0.5192:0.0:0.4808:0.0|0.5192:0.0:0.4808:0.0	.|.	780;869;861;869|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	K|Q	780;869;861;255|768	ENSP00000360887:E780K;ENSP00000254029:E869K;ENSP00000360890:E861K|.	ENSP00000254029:E869K|.	E|R	+|+	1|2	0|0	WDR44|WDR44	117462443|117462443	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	0.300000|0.300000	0.19156|0.19156	-0.161000|-0.161000	0.10983|0.10983	-0.397000|-0.397000	0.06425|0.06425	GAG|CGA		0.393	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		42	41	0	0	0	0	42	41				
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						uc010ujf.1		NA																	0					0						c.(1759-1761)CTGdel		solute carrier family 24				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.1_In_Frame_Del_p.L591del	p.L591del	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	2046_2048	+			591			Helical; (Potential).		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		8	121	NA	NA	NA	NA	8	121	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27614070	27614071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:27614070_27614071insT	ENST00000225388.4	-	2	999_1000	c.941_942insA	c.(940-942)aagfs	p.K314fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	314						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATCATCAAACTTTTTGCTGCT	0.475																																						uc002hdy.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(940-942)AAGfs		nuclear fragile X mental retardation protein																																				SO:0001589	frameshift_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614070_27614071insT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.942dupA	17.37:g.27614075_27614075dupT	ENSP00000225388:p.Lys314fs					NUFIP2_uc002hdx.3_Intron	p.K314fs	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1030_1031	-			314					A1L3A6|Q9P2M5	Frame_Shift_Ins	INS	ENST00000225388.4	37	c.941_942insA	CCDS32600.1																																																																																				0.475	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		38	82	NA	NA	NA	NA	38	82	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162307374	162307374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:162307374delT	ENST00000306100.5	-	16	2505	c.2069delA	c.(2068-2070)aatfs	p.N690fs	FSTL5_ENST00000427802.2_Frame_Shift_Del_p.N680fs|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.N689fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.N689fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	690						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACATCACTATTGAACCCAAT	0.488																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2068-2070)AATfs		follistatin-like 5 isoform a							134.0	121.0	126.0					4																	162307374		2203	4300	6503	SO:0001589	frameshift_variant	56884					extracellular region	calcium ion binding	g.chr4:162307374delT	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2069delA	4.37:g.162307374delT	ENSP00000305334:p.Asn690fs					FSTL5_uc003iqi.2_Frame_Shift_Del_p.N689fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.N680fs|uc010iqu.1_RNA	p.N690fs	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2505	-	all_hematologic(180;0.24)		690					E9PCP6|Q9NSW7|Q9ULF7	Frame_Shift_Del	DEL	ENST00000306100.5	37	c.2069delA	CCDS3802.1																																																																																				0.488	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	56	NA	NA	NA	NA	17	56	---	---	---	---
HIST1H2BL	8340	broad.mit.edu	37	6	27775637	27775638	+	Frame_Shift_Ins	INS	-	-	TT	rs372391364		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:27775637_27775638insTT	ENST00000377401.2	-	1	71_72	c.47_48insAA	c.(46-48)aagfs	p.K16fs	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	16					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCACCGCCTTCTTGGAGCCCTT	0.54																																						uc003njl.2		NA																	0					0						c.(46-48)AAGfs		histone cluster 1, H2bl																																				SO:0001589	frameshift_variant	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775637_27775638insTT	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.46_47dupAA	6.37:g.27775638_27775639dupTT	ENSP00000366618:p.Lys16fs					HIST1H3H_uc003njm.2_5'Flank	p.K16fs	NM_003519	NP_003510	Q99880	H2B1L_HUMAN			1	72_73	-			16					B2R5A3|Q52LW9	Frame_Shift_Ins	INS	ENST00000377401.2	37	c.47_48insAA	CCDS4625.1																																																																																				0.540	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		7	141	NA	NA	NA	NA	7	141	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aacfs	p.N3604fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3605					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)	TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10813-10815)AACfs	NHEJ	protein kinase, DNA-activated, catalytic																																				SO:0001589	frameshift_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.chr8:48701554_48701555insT		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		ENST00000314191.2:c.10812dupA	8.37:g.48701562_48701562dupT	ENSP00000313420:p.Asn3604fs					PRKDC_uc003xqj.2_Frame_Shift_Ins_p.N3605fs|PRKDC_uc011ldh.1_Intron	p.N3605fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN			77	10871_10872	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3605					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.10814_10815insA																																																																																					0.401	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		15	69	NA	NA	NA	NA	15	69	---	---	---	---
